Original Article
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
N Engl J Med 2008; 359:1685-1699October 16, 2008
- Abstract
Background
Duplications and deletions in the human genome can cause disease or predispose persons to disease. Advances in technologies to detect these changes allow for the routine identification of submicroscopic imbalances in large numbers of patients.
Methods
We tested for the presence of microdeletions and microduplications at a specific region of chromosome 1q21.1 in two groups of patients with unexplained mental retardation, autism, or congenital anomalies and in unaffected persons.
Results
We identified 25 persons with a recurrent 1.35-Mb deletion within 1q21.1 from screening 5218 patients. The microdeletions had arisen de novo in eight patients, were inherited from a mildly affected parent in three patients, were inherited from an apparently unaffected parent in six patients, and were of unknown inheritance in eight patients. The deletion was absent in a series of 4737 control persons (P=1.1×10−7). We found considerable variability in the level of phenotypic expression of the microdeletion; phenotypes included mild-to-moderate mental retardation, microcephaly, cardiac abnormalities, and cataracts. The reciprocal duplication was enriched in nine children with mental retardation or autism spectrum disorder and other variable features (P=0.02). We identified three deletions and three duplications of the 1q21.1 region in an independent sample of 788 patients with mental retardation and congenital anomalies.
Conclusions
We have identified recurrent molecular lesions that elude syndromic classification and whose disease manifestations must be considered in a broader context of development as opposed to being assigned to a specific disease. Clinical diagnosis in patients with these lesions may be most readily achieved on the basis of genotype rather than phenotype.
Media in This Article
Figure 1
High-Density Oligonucleotide-Array Mapping of Chromosome 1q21.1 Rearrangements in the Study Patients.Figure 2
Pedigrees of Eight Probands with a 1q21.1 Deletion.Article Activity
- Article
Recent advances in technologies such as comparative genomic hybridization (CGH; see Glossary) allow for the routine detection of submicroscopic deletions and duplications. Several studies of persons with mental retardation or congenital anomalies of unknown cause have led to the identification of new genomic disorders.1-10 Classically, criteria that have been applied to determine whether a given rearrangement is causative include de novo appearance of the deletion or duplication in an affected individual (i.e., it is not present in unaffected parents), recurrence of the same or an overlapping event in similarly affected persons, and absence of the deletion or duplication in a control population. Examples of genomic disorders with these features include the Williams–Beuren syndrome, the 17q21.31 microdeletion syndrome, and the Prader–Willi and Angelman syndromes.
As more patients are identified with a given unbalanced microrearrangement, it has become clear that some genomic disorders have high penetrance but a wide range of phenotypic severity. For example, although 90% of persons with the 22q11 deletion syndrome have the same 3-Mb deletion on chromosome 22, the phenotypic features are highly variable. Congenital heart disease is found in most (74%) but not all carriers of the deletion, and cleft palate is found in 27% of carriers (reviewed in Robin and Shprintzen11). More recently, reports of microdeletions or duplications with apparently incomplete penetrance and variable expressivity have been identified in mental retardation–multiple congenital anomalies, autism, and other psychiatric disorders.12-16 The 1q21.1 microdeletions associated with the thrombocytopenia–absent radius syndrome are necessary but not sufficient to cause disease.17 As these reports accumulate, it is becoming clear that the phenotypes associated with imbalances of some regions of the genome can be variable, and modifiers probably play an important role. The ascertainment and description of patients with a specific chromosomal rearrangement critically affects the spectrum of phenotypes associated with it.
Methods
Populations of Patients
DNA samples were obtained from the series described in Table 1A and Table 1B in the Supplementary Appendix (available with the full text of this article at www.nejm.org) after approval by local institutional review boards at each of the participating centers in Europe and the United States. Series 1 and 2, 4 through 11, 13 through 15, and the Dutch series of 788 patients came from diagnostic referral centers to which the majority of patients (95%) were referred for mental retardation with or without other features. Series 3 and 12 comprise probands with a diagnosis of autism according to Autism Diagnostic Interview–Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS) criteria. Written informed consent was provided by all patients or, if children, by their parent or guardian.
Determining Variation in Copy Number
Affected Persons
The method of screening for changes in copy number for each series is included in Table 1A in the Supplementary Appendix. The Dutch series of patients was screened using array-based CGH involving a bacterial artificial chromosome microarray, as described in Table 1B in the Supplementary Appendix. Rearrangements of 1q21.1 were further analyzed with the use of custom oligonucleotide arrays (NimbleGen Systems). Details are given in the Methods section of the Supplementary Appendix.18-20
Unaffected Persons
We evaluated 2063 unaffected persons, using HumanHap 300, HumanHap 550, or HumanHap 650Y Genotyping BeadChips (Illumina) (Table 2 in the Supplementary Appendix; 91, 206, or 212 probes used, respectively, within the critical region). Hybridization, data analysis, and copy-number analysis, with particular reference to chromosome 1q21.1 (mapping between genome coordinates 143,500,000 and 145,000,000 on chromosome 1, according to National Center for Biotechnology Information [NCBI] build 35), were performed according to published protocols.21 We also evaluated 300 unaffected persons, using a quantitative real-time polymerase-chain-reaction (PCR) assay for changes in copy number at five loci within the region of minimal deletion (primer list available on request). Details about this assay, as well as information about the TaqMan quantitative PCR, DNA-methylation studies, sequence analysis, and fluorescence in situ hybridization (FISH), are given in the Supplementary Appendix.
Results
Chromosome 1q21.1 Rearrangements in Affected Persons
We previously described one person with a deletion of 1q21.1 and another with an overlapping duplication in a series of 390 persons screened by array-based CGH involving a bacterial artificial chromosome microarray.2,8 These persons had global delay, growth retardation, and seizures (Patient 1) (Table 1Table 1
Phenotypic Features of Probands with a Deletion in Chromosome 1q21.1.) and mental retardation, growth retardation, and facial dysmorphism (Patient 2) (Table 3 in the Supplementary Appendix). In a collaborative study of 3788 patients from 12 centers in Europe and the United States using array-based CGH (Table 1A in the Supplementary Appendix), we identified an additional 22 probands with deletion and 8 probands with duplication. Targeted screening of another 1040 persons with unexplained mental retardation, by means of two TaqMan quantitative PCR assays within the commonly deleted region, resulted in detection of a deletion in two additional patients. Thus, from a total of 5218 persons with idiopathic mental retardation, autism, or congenital anomalies, we have a series of 25 unrelated probands with overlapping deletions of 1q21.1 (0.5%) (Figure 1AFigure 1High-Density Oligonucleotide-Array Mapping of Chromosome 1q21.1 Rearrangements in the Study Patients.) and 9 persons with the apparently reciprocal duplication (0.2%) (Figure 1B). Five persons (four with a 1q21.1 deletion and one with a duplication) also carried one or more additional chromosome abnormalities that could have contributed to their phenotype and were therefore excluded from further analysis (see Table 4 in the Supplementary Appendix for their phenotypic features).The minimally deleted region spans approximately 1.35 Mb (on chromosome 1, 143.65 to 145 Mb [according to NCBI build 35], or 145 to 146.35 Mb [according to NCBI build 36]) and includes at least seven genes. The majority of persons studied have deletions with breakpoints (BP) in segmental-duplication blocks BP3 and BP4 (see Glossary and Figure 1). Patient 12 has a larger, atypical deletion approximately 5.5 Mb in size that extends more proximally toward the centromere than the common deletion (on chromosome 1, 142.5 to 148.0 Mb [NCBI build 36]) (Figure 1 in the Supplementary Appendix). Of the 21 probands without secondary karyotype abnormalities, the 1q21.1 deletion was de novo in 7 (3 with maternal origin, 1 with paternal origin, and 3 with undetermined parental origin), maternally inherited in 3, paternally inherited in 4, and of unknown inheritance (parents unavailable for study) in 7 (Table 1).
The phenotypes of persons with 1q21.1 deletions are described in Table 1 (21 patients without additional chromosomal abnormalities) and Table 4 in the Supplementary Appendix (4 patients with additional chromosomal abnormalities). Pedigrees of eight probands are shown in Figure 2Figure 2
Pedigrees of Eight Probands with a 1q21.1 Deletion.. The majority of persons with a deletion have a history of mild-to-moderate developmental delay (16 of 21 [76.2%]) and dysmorphic features (17 of 21 [81.0%]), consistent with their ascertainment criteria. Three parents are also mildly affected; however, five probands had normal cognitive development, and four apparently unaffected parents have the same deletion. In addition, 14 of the 21 patients (66.7%) and 2 parents with the deletion have microcephaly or relative microcephaly. Other phenotypic features noted in more than one patient with the deletion include ligamentous laxity or joint hypermobility (five patients), congenital heart abnormality (six patients), hypotonia (five patients), seizures (three patients) and cataracts (three patients). There are no notable phenotypic differences among carriers of a deletion with different breakpoints. Consistent with variability of phenotypic outcome, we noted that the same region was recently described in an adult patient with schizophrenia22 (Table 4 in the Supplementary Appendix). We obtained DNA from this patient to map the breakpoints; our results show that the deletion in this patient with adult-onset schizophrenia is apparently identical to the common 1.35-Mb deletion found in our sample of patients with primarily childhood-onset phenotypes (Figure 3Figure 3
High-Density Oligonucleotide-Array Comparative Genomic Hybridization of Chromosome 1q21.1 Deletions in Three Study Patients.).We also detected the reciprocal 1q21.1 duplication in nine persons (Figure 1B), one of whom carried an additional large chromosomal abnormality and was thus excluded from further analysis (Table 4 in the Supplementary Appendix). Of the remaining eight patients with duplication, two had inheritance from an unaffected father, two had de novo duplication (parent of origin not known), and four did not have parental DNA available for analysis. Four of the eight patients with duplication (50.0%) had autism or autistic behaviors (Table 3 in the Supplementary Appendix). Other common phenotypic features of the eight duplication carriers include mild-to-moderate mental retardation (in five [62.5%]), macrocephaly or relative macrocephaly (in four [50.0%]), and mild dysmorphic features (in five [62.5%]).
In an independent sample of 788 patients with mental retardation and congenital anomalies from the Netherlands, we identified deletion in 3 patients (0.4%) and duplication in another 3 patients (0.4%). The phenotypic features and inheritance patterns of these patients are listed in Table 1B in the Supplementary Appendix.
Deletions and Duplications in Unaffected Persons
To assess the frequency of 1q21.1 rearrangements in the general population, we evaluated data on copy number from three control populations: 2063 persons evaluated by means of single-nucleotide polymorphism (SNP)–genotyping bead arrays21 (Itsara A: personal communication), 300 persons evaluated by means of quantitative PCR performed on specimens from five different locations within the minimal-deletion region, and 2374 persons from previously published studies for which the copy-number variation of the 1q21.1 region was genotyped (Table 2 in the Supplementary Appendix).18,20,23-29 In this series of 4737 controls, we found no deletions of the 1q21.1 minimal-deletion region. Two controls each had one small duplication (117 kb and 184 kb) at the distal end of the minimal-deletion region, and only one control had confirmed duplication of the entire minimal 1q21.1 rearrangement region29 (Feuk L: personal communication). Thus, the frequency of the 1.35-Mb deletion is clearly enriched in affected persons as compared with controls (25 of 5218 patients vs. 0 of 4737 controls, P=1.1×10−7 by Fisher's exact test). Although detected at a lower frequency in our series, the reciprocal duplication also appears to be enriched in affected persons (9 of 5218 patients, vs. 1 of 4737 controls; P=0.02 by Fisher's exact test).
Genomic Structure of the 1q21.1 Region
The genomic structure of the 1q21.1 breakpoint regions is extremely complex, with at least four large segmental-duplication blocks ranging in size from 270 kb to 2.2 Mb (Figure 1, and Figure 1 in the Supplementary Appendix), most of which exhibit copy-number polymorphism in the general population25,27 (see also the Database of Genomic Variants, http://projects.tcag.ca/variation/). A large inversion polymorphism that spans the recurrent deletion–duplication region, a feature associated with many other recurrent genomic disorders, has also been described.27,30 The complexity of 1q21.1 is underscored by the fact that there are still 15 assembly gaps, representing approximately 700 kb of missing sequence, in the most recent NCBI genome build (build 36). Of the 5.4 Mb of sequence within 1q21.1, only 25% represents unique (i.e., nonduplicated) sequence.
Although the complexity of the region complicates mapping efforts, our high-density array-based CGH results show that the proximal and distal breakpoints of the deletion–duplication events map within large segmental-duplication blocks. Our analysis reveals four possible breakpoint regions, BP1 and BP4 (Figure 1, and Figure 1 in the Supplementary Appendix), as well as BP2 and BP3, which correspond to the previously described breakpoints associated with the thrombocytopenia–absent radius syndrome.17 Breakpoints of the most common 1.35-Mb deletion map to BP3 and BP4, which share 281 kb of sequence with more than 99.9% identity (Table 5 in the Supplementary Appendix). The structure of the 1q21.1 region (with multiple large blocks of highly homologous segmental duplication), the frequency of recurrent deletions or duplications, and the additional observation of reciprocal deletion and duplication events strongly suggest nonallelic homologous recombination as the mechanism that generates the deletion and duplication.
The presence of numerous assembly gaps in the 1q21.1 region hinders precise mapping of the chromosomal breakpoints that flank each duplication or deletion. Moreover, these gaps may contain genes that are absent from the current reference sequence and could potentially contribute to phenotypic differences between deletion carriers. One example is a partially duplicated copy of the hydrocephalus-inducing homologue (mouse) 2 gene HYDIN2, recently mapped to 1q21.1.31 We confirmed the presence of a HYDIN homologue within 1q21.1 by using FISH analysis involving two chromosome 16q22 fosmids containing the chromosome-16 HYDIN sequence (Figure 2 in the Supplementary Appendix). Analysis of two deletion carriers (Patient 7 and her unaffected mother) revealed that the HYDIN2 locus lies within the commonly deleted region and therefore may reside in one of the gaps between BP3 and BP4. Because probes designed to detect HYDIN also hybridize with HYDIN2 sequence, data obtained through CGH studies, involving a whole-genome array, of persons with the 1q21.1 deletion suggest the existence of an approximately 35-kb deletion at 16q22 (Figure 2 in the Supplementary Appendix) — that is, a false positive for the 16q22 deletion. FISH studies revealed only the 1q21.1 deletion and did not confirm the apparent 16q22 deletion.
Analysis of Potential Modifiers of Phenotype
Given associations between GJA5 (the gene encoding connexin 40) and cardiac phenotypes32-35 and between GJA8 (the gene encoding connexin 50) and eye phenotypes,36-38 we hypothesized that coding variants on the remaining GJA5 or GJA8 allele of deletion carriers may contribute to the cardiac or eye phenotypes, respectively, seen in some patients. However, we sequenced the coding and upstream regions of both genes in 11 deletion carriers and found no mutations (Table 6 in the Supplementary Appendix). We also investigated the possibility that epigenetic differences on the single remaining 1q21.1 allele might underlie the variable phenotype of those with 1q21.1 deletions. We analyzed the CpG (cytidine–phosphate–guanosine) methylation status within the deletion region in an affected 1q21.1 deletion carrier (Patient 7) and in her mother, who also carries the deletion but is unaffected. We found no significant differences between them (data not shown).
Discussion
Our data show that 1q21.1 deletions are associated with a broad array of pediatric developmental abnormalities. There is considerable phenotypic diversity associated with haploinsufficiency of 1q21.1, consistent with previous reports of apparently identical 1q21.1 deletions in patients with different phenotypes, including isolated heart defects,39 cataracts,27 mullerian aplasia,40 autism,41 and schizophrenia.13,14,22 We identified several unaffected deletion carriers; however, it is possible that apparently unaffected parents who have a 1q21.1 deletion could also have subtle phenotypic features consistent with the deletion that would become evident on further clinical evaluation. In one of our patients (Patient 2), for example, subtle cataracts and a patent ductus arteriosus were detected only after directed studies were performed after discovery of the 1q21 deletion (Table 1).
The reciprocal duplication was detected less frequently in our series, a finding that is consistent with recent studies showing that rates of deletion mediated by nonallelic homologous recombination are higher than that for duplications in the male germ line.42 Nonetheless, the duplication is also enriched in affected persons as compared with controls (P=0.02). Seven of the eight duplication carriers have learning or developmental delay or mental retardation. Four of the eight duplication carriers have autistic behaviors or autism, consistent with previously reported 1q21.1 duplications in patients with autism.41 Two patients were initially identified among 141 patients with autism, a finding that suggests even greater enrichment in this population (vs. 1 of 4737 controls, P=0.002 by Fisher's exact test). Other phenotypes described in the majority of patients for whom data are available include macrocephaly or relative macrocephaly. However, because of the small number of patients with a duplication event in our series, identification of additional carriers will be required to determine whether these clinical manifestations are consistent with the presence of the duplication.
Several possibilities may account for the phenotypic variability we found among carriers of 1q21.1 rearrangements, including variation in genetic background, epigenetic phenomena such as imprinting, expression or regulatory variation among genes in the rearrangement region, and (in the case of deletions) the unmasking of recessive variants residing on the single remaining allele. It is known, for example, that coding variants on the nondeleted allele in carriers of the velocardiofacial syndrome deletion can modify the phenotypes of patients.43,44 Sequence analysis of GJA5 and GJA8 (the genes previously implicated in cardiac and eye phenotypes, respectively) in 11 deletion carriers yielded no data to support the unmasking of recessive variants as a cause of phenotypic variability. Likewise, preliminary data from methylation analyses of an affected deletion carrier and her mother, who also carried the deletion but was unaffected, suggest that differences in the methylation status of the nondeleted 1q21.1 locus does not contribute to the variability in phenotype. Finally, parent-of-origin studies reveal both maternal and paternal transmission of the deletion, making it unlikely that imprinting plays a role in phenotypic variability.
Our results emphasize the importance of rare structural variants in human disease; they also demonstrate some of the challenges. First, large samples of patients and controls are required to show that a specific variant is pathogenic. Although there have been several reports of patients with 1q21.1 deletions in studies of specific diseases,22,39-41 our study shows that recurrent 1q21.1 microdeletions are significantly associated with pediatric disease, through systematic comparison of the frequency of rearrangements in affected and unaffected persons. Second, detailed clinical evaluations of affected persons disclosed a much broader spectrum of phenotypes than anticipated, dispelling any notion of syndromic disease. While this article was being reviewed before publication, two groups reported enrichment of 1q21.1 deletions in persons with schizophrenia13,14; they report deletions in 0.26% of patients with schizophrenia, as compared with our finding of deletions in 0.5% of persons with developmental abnormalities. These results confirm the association of 1q21.1 rearrangements with a broad spectrum of phenotypes but also further dispel the notion that rare copy-number variants will necessarily follow the one gene (or one rearrangement)–one disease model.
The phenotypic diversity, incomplete penetrance, and lack of distinct syndromic features associated with 1q21 rearrangements will complicate genetic diagnosis and counseling. For clinicians caring for patients with developmental abnormalities, the identification of a 1q21 rearrangement by means of diagnostic array-based CGH should be considered a clinically significant finding and probably an influential genetic factor contributing to the phenotype. Evaluation of family members may reveal apparently unaffected (or mildly affected) persons carrying the same rearrangement. Given the spectrum of possible outcomes associated with 1q21 rearrangements, such persons should be monitored in the long term for learning disabilities, autism, or schizophrenia or other neuropsychiatric disorders. Counseling in the prenatal setting will present the greatest challenge: although the likelihood of an abnormal outcome is high in a person with a 1q21.1 rearrangement, current knowledge does not allow us to predict which abnormalities will occur in any given person. Further investigation of genetic and environmental modifiers may explain such variable expressivity but requires characterization of an even larger number of patients with a 1q21 deletion. Data on rare, de novo structural variants are collectively beginning to explain an increasingly greater fraction (approximately 15%) of patients with developmental delay, autism, schizophrenia, or other neuropsychiatric disorders, and our study adds 1q21.1 as a locus to include in screening panels for such patients.
Supported in part by grants from the National Institutes of Health (HD043569, to Dr. Eichler), the South Carolina Department of Disabilities and Special Needs (to Drs. Skinner, Stevenson, and Schwartz), the Wellcome Trust (061183, to Dr. Tassabehji), the André & Cyprien Foundation and the University Hospitals of Geneva (to Drs. Antonarakis, Bena, and Gallati), and the European Union (project 219250, to Dr. Sharp; AnEUploidy project 037627, to Drs. Leeuw, Armengol, Antonarakis, Estivill, Veltman, and de Vries). The Irish Autism Study was funded by the Wellcome Trust and the Health Research Board (a grant to Drs. Gallagher and Gill). Dr. Poot was supported by a grant from the Dutch Foundation for Brain Research (Hersenstichting grant 2008(1) 34); Drs. Regan and Knight, by the Oxford Partnership Comprehensive Biomedical Research Centre; Dr. Willatt, by the Cambridge Biomedical Research Centre, with funding from the United Kingdom Department of Health's National Institute for Health Research Biomedical Research Centres funding scheme; Drs. Huang and Maloney, as part of the National Genetics Reference Laboratory (Wessex) by the United Kingdom Department of Health; Ms. Buysse, as a research assistant of the Research Foundation–Flanders (FWO–Vlaanderen); and Dr. Eichler, as an investigator of the Howard Hughes Medical Institute. The views expressed in this publication are those of the authors and not necessarily those of the United Kingdom Department of Health.
Drs. Mefford and Sharp report giving invited Webinars and seminars for NimbleGen, a manufacturer of microarrays; Drs. Li, Casuga, Broomer, and Chen report being employees of Applied Biosystems, manufacturer of the TaqMan assay and reagents; and Dr. Eichler reports being an invited speaker at an Applied Biosystems workshop on human copy-number variation. No other potential conflict of interest relevant to this article was reported.
Drs. Mefford and Sharp contributed equally to this article.
This article (10.1056/NEJMoa0805384) was published at www.nejm.org on September 10, 2008.
We thank Francesca Antonacci for performing fluorescence in situ hybridization analysis. This study used data from the SNP Database at the National Institute of Neurological Disorders and Stroke Human Genetics Resource Center DNA and Cell Line Repository (http://ccr.coriell.org/ninds), as well as clinical data. The Illumina genotyping was performed in the laboratories of Drs. Singleton and Hardy (National Institute of Aging [NIA], Laboratory of Neurogenetics [LNG]), Bethesda, MD.
Source Information
The authors' affiliations are listed in the Appendix.
Address reprint requests to Dr. Eichler at the Department of Genome Sciences, University of Washington and Howard Hughes Medical Institute, Foege Bldg. S413A, Box 355065, 1705 NE Pacific St., Seattle, WA 98195, or at eee@gs.washington.edu.
The full names and degrees of the authors are listed in the Appendix.
Appendix
The authors' affiliations are as follows: the University of Washington School of Medicine (H.C.M., C.B., A.I., Z.J., M.-C.K., E.E.E.), University of Washington (J.M., M.-C.K., T.W.), and Howard Hughes Medical Institute (E.E.E.) — all in Seattle; University of Geneva Medical School (A.J.S., S.E.A.) and Geneva University Hospitals (S. Gimelli, F.B.) — both in Geneva; Center for Medical Genetics (K.B., G.M., F.S., B.M.) and Division of Pediatric Neurology and Metabolism (Y.S., P.V., A.D.C., L. Goossens), Ghent University Hospital, Ghent, Belgium; National Genetics Reference Laboratory (S.H., J.A.C., J.C.K.B.) and Wessex Regional Genetics Laboratory (V.K.M., J.A.C., J.C.K.B.), Salisbury National Health Service (NHS) Foundation Trust, Salisbury; Wessex Clinical Genetics Service, Southampton University Hospitals Trust, Southampton (D.B., A.C., C.M.); University College London (R.C.H.) and Great Ormond Street Hospital for Children NHS Trust (A.M.), London; Department of Clinical Genetics (L. Gaunt, J.C.-S.) and Academic Unit of Medical Genetics, University of Manchester (M.T.), St. Mary's Hospital, Manchester; Addenbrooke's Hospital NHS Trust (I.S., S.M.P., S.G.M., S.N.-Z., C.G.W., H.V.F., G.P., L.W.) and Wellcome Trust Sanger Institute (S. Gribble), Cambridge; and the Wellcome Trust Centre for Human Genetics, Churchill Hospital, Oxford (R.R., S.J.L.K.) — all in the United Kingdom; Children's Hospital and Vlaams Interuniversitar Instituut Voor Biotechnologie (K.N.) and Center for Human Genetics (T.R., K.D., J.R.V.), Catholic University of Leuven, Leuven, Belgium; Radboud University Nijmegen Medical Center, Nijmegen (E.M.H.F.B., N.L., J.A.V., B.B.A.V.); University Medical Center, Utrecht (E.B., M.R.N., R.H., M.P.); and Academic Medical Center, Amsterdam (R.C.H.) — all in the Netherlands; Our Lady's Hospital for Sick Children (W.R.) and St. James's Hospital (L. Gallagher, M.G.) — both in Dublin; Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Associazione Oasi Maria Santissima, Troina (M.F., S.R., M.L.G., C.R.); Università Federico II, Naples (A.C.); and Unità di Malattie Muscolari e Neurodegenerative, Istituto G. Gaslini (P.S.) and Istituto G. Gaslini (G.G.), Genoa — all in Italy; Applied Biosystems, Foster City, CA (K.E.L., I.C., A.B., C.C.); Bern University Children's Hospital (B.C., S. Gallati) and Department of Cardiology, University Hospital Bern (M.S., L.R.) — both in Bern, Switzerland; Royal Hospital for Sick Children, Glasgow, Scotland (J.L.T., E.S.T., C.L.); Biomedical Research Center for Epidemiology and Public Health (CIBERESP) and Pompeu Fabra University, Barcelona (L.A., X.E.); Greenwood Genetic Center, Greenwood, SC (C.S., R.E.S., C.E.S.); University of Chicago, Chicago (S.S.); Vanderbilt University, Nashville (J.S.S.); and Cold Spring Harbor Laboratory, Cold Spring Harbor, NY (J.S.).
- References
References
1
Barber JC ,Maloney VK ,Huang S , et al. 8p23.1 Duplication syndrome: a novel genomic condition with unexpected complexity revealed by array CGH. Eur J Hum Genet 2008;16:18-27
CrossRef | Web of Science | Medline2
de Vries BB ,Pfundt R ,Leisink M , et al. Diagnostic genome profiling in mental retardation. Am J Hum Genet 2005;77:606-616
CrossRef | Web of Science | Medline3
Friedman JM ,Baross A ,Delaney AD , et al. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet 2006;79:500-513
CrossRef | Web of Science | Medline4
Koolen DA ,Vissers LE ,Pfundt R , et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet 2006;38:999-1001
CrossRef | Web of Science | Medline5
Mefford HC ,Clauin S ,Sharp AJ , et al. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet 2007;81:1057-1069
CrossRef | Web of Science | Medline6
Menten B ,Maas N ,Thienpont B , et al. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J Med Genet 2006;43:625-633
CrossRef | Web of Science | Medline7
Rosenberg C ,Knijnenburg J ,Bakker E , et al. Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. J Med Genet 2006;43:180-186
CrossRef | Web of Science | Medline8
Sharp AJ ,Hansen S ,Selzer RR , et al. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet 2006;38:1038-1042
CrossRef | Web of Science | Medline9
Sharp AJ ,Mefford HC ,Li K , et al. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet 2008;40:322-328
CrossRef | Web of Science | Medline10
Sharp AJ ,Selzer RR ,Veltman JA , et al. Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet 2007;16:567-572
CrossRef | Web of Science | Medline11
Robin NH ,Shprintzen RJ . Defining the clinical spectrum of deletion 22q11.2. J Pediatr 2005;147:90-96
CrossRef | Web of Science | Medline12
Hannes FD, Sharp AJ, Mefford HC, et al. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet 2008 June 11 (Epub ahead of print).
13
Stefansson H, Rujescu D, Cichon S, et al. Large recurrent microdeletions associated with schizophrenia. Nature 2008 July 30 (Epub ahead of print).
14
Stone JL, O'Donovan MC, Gurling H, et al. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 2008 July 30 (Epub ahead of print).
15
Ullmann R ,Turner G ,Kirchhoff M , et al. Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Hum Mutat 2007;28:674-682
CrossRef | Web of Science | Medline16
Weiss LA ,Shen Y ,Korn JM , et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008;358:667-675
Full Text | Web of Science | Medline17
Klopocki E ,Schulze H ,Strauss G , et al. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet 2007;80:232-240
CrossRef | Web of Science | Medline18
Sharp AJ ,Locke DP ,McGrath SD , et al. Segmental duplications and copy-number variation in the human genome. Am J Hum Genet 2005;77:78-88
CrossRef | Web of Science | Medline19
Cusco I ,del Campo M ,Vilardell M , et al. Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration. BMC Med Genet 2008;9:27-27
CrossRef | Web of Science | Medline20
Sebat J ,Lakshmi B ,Troge J , et al. Large-scale copy number polymorphism in the human genome. Science 2004;305:525-528
CrossRef | Web of Science | Medline21
Peiffer DA ,Le JM ,Steemers FJ , et al. High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res 2006;16:1136-1148
CrossRef | Web of Science | Medline22
Walsh T ,McClellan JM ,McCarthy SE , et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 2008;320:539-543
CrossRef | Web of Science | Medline23
de Stahl TD ,Sandgren J ,Piotrowski A , et al. Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array. Hum Mutat 2008;29:398-408
CrossRef | Web of Science | Medline24
Iafrate AJ ,Feuk L ,Rivera MN , et al. Detection of large-scale variation in the human genome. Nat Genet 2004;36:949-951
CrossRef | Web of Science | Medline25
Locke DP ,Sharp AJ ,McCarroll SA , et al. Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am J Hum Genet 2006;79:275-290
CrossRef | Web of Science | Medline26
Pinto D ,Marshall C ,Feuk L ,Scherer SW . Copy-number variation in control population cohorts. Hum Mol Genet 2007;16 Spec No. Pinto D, Marshall C, Feuk L, Scherer SW. Copy-number variation in control population cohorts. Hum Mol Genet 2007;16 Spec No. 2:R168-R173.;[Erratum, Hum Mol Genet 2008;17:166-7.]27
Redon R ,Ishikawa S ,Fitch KR , et al. Global variation in copy number in the human genome. Nature 2006;444:444-454
CrossRef | Web of Science | Medline28
Simon-Sanchez J ,Scholz S ,Fung HC , et al. Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet 2007;16:1-14
CrossRef | Web of Science | Medline29
Zogopoulos G ,Ha KC ,Naqib F , et al. Germ-line DNA copy number variation frequencies in a large North American population. Hum Genet 2007;122:345-353
CrossRef | Web of Science | Medline30
Kidd JM ,Cooper GM ,Donahue WF , et al. Mapping and sequencing of structural variation from eight human genomes. Nature 2008;453:56-64
CrossRef | Web of Science | Medline31
Doggett NA ,Xie G ,Meincke LJ , et al. A 360-kb interchromosomal duplication of the human HYDIN locus. Genomics 2006;88:762-771
CrossRef | Web of Science | Medline32
Gu H ,Smith FC ,Taffet SM ,Delmar M . High incidence of cardiac malformations in connexin40-deficient mice. Circ Res 2003;93:201-206
CrossRef | Web of Science | Medline33
Firouzi M ,Ramanna H ,Kok B , et al. Association of human connexin40 gene polymorphisms with atrial vulnerability as a risk factor for idiopathic atrial fibrillation. Circ Res 2004;95:e29-e33
CrossRef | Web of Science | Medline34
Hauer RN ,Groenewegen WA ,Firouzi M ,Ramanna H ,Jongsma HJ . Cx40 polymorphism in human atrial fibrillation. Adv Cardiol 2006;42:284-291
CrossRef | Web of Science | Medline35
Juang JM ,Chern YR ,Tsai CT , et al. The association of human connexin 40 genetic polymorphisms with atrial fibrillation. Int J Cardiol 2007;116:107-112
CrossRef | Web of Science | Medline36
Shiels A ,Mackay D ,Ionides A ,Berry V ,Moore A ,Bhattacharya S . A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant “zonular pulverulent” cataract, on chromosome 1q. Am J Hum Genet 1998;62:526-532
CrossRef | Web of Science | Medline37
Vanita V ,Singh JR ,Singh D ,Varon R ,Sperling K . A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin. Mol Vis 2008;14:323-326
Web of Science | Medline38
Ponnam SP ,Ramesha K ,Tejwani S ,Ramamurthy B ,Kannabiran C . Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract. J Med Genet 2007;44:e85-e85
CrossRef | Web of Science | Medline39
Christiansen J ,Dyck JD ,Elyas BG , et al. Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease. Circ Res 2004;94:1429-1435
CrossRef | Web of Science | Medline40
Cheroki C ,Krepischi-Santos AC ,Szuhai K , et al. Genomic imbalances associated with mullerian aplasia. J Med Genet 2008;45:228-232
CrossRef | Web of Science | Medline41
Szatmari P ,Paterson AD ,Zwaigenbaum L , et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 2007;39:319-328
CrossRef | Web of Science | Medline42
Turner DJ ,Miretti M ,Rajan D , et al. Germline rates of de novo meiotic deletions and duplications causing several genomic disorders. Nat Genet 2008;40:90-95
CrossRef | Web of Science | Medline43
Bearden CE ,Jawad AF ,Lynch DR , et al. Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome. Am J Psychiatry 2004;161:1700-1702
CrossRef | Web of Science | Medline44
Gothelf D ,Eliez S ,Thompson T , et al. COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat Neurosci 2005;8:1500-1502
CrossRef | Web of Science | Medline
- Citing Articles (194)
Citing Articles
1
B J Mowry, J Gratten. (2012) The emerging spectrum of allelic variation in schizophrenia: current evidence and strategies for the identification and functional characterization of common and rare variants. Molecular Psychiatry
CrossRef2
George McGillivray, Jill A Rosenfeld, R. J. McKinlay Gardner, Lynn H. Gillam. (2012) Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing. Prenatal Diagnosis 32:4, 389-395
CrossRef3
Annapurna Poduri, Gilad D. Evrony, Xuyu Cai, Princess Christina Elhosary, Rameen Beroukhim, Maria K. Lehtinen, L. Benjamin Hills, Erin L. Heinzen, Anthony Hill, R. Sean Hill, Brenda J. Barry, Blaise F.D. Bourgeois, James J. Riviello, A. James Barkovich, Peter M. Black, Keith L. Ligon, Christopher A. Walsh. (2012) Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations. Neuron 74:1, 41-48
CrossRef4
Andy Itsara, Lisenka E.L.M. Vissers, Karyn Meltz Steinberg, Kevin J. Meyer, Michael C. Zody, David A. Koolen, Joep de Ligt, Edwin Cuppen, Carl Baker, Choli Lee, Tina A. Graves, Richard K. Wilson, Robert B. Jenkins, Joris A. Veltman, Evan E. Eichler. (2012) Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing. The American Journal of Human Genetics 90:4, 599-613
CrossRef5
Jurate Kasnauskiene, Zivile Ciuladaite, Egle Preiksaitiene, Aušra Matulevičienė, Angelos Alexandrou, George Koumbaris, Carolina Sismani, Ingrida Pepalytė, Philippos C. Patsalis, Vaidutis Kučinskas. (2012) A single gene deletion on 4q28.3: PCDH18 – A new candidate gene for intellectual disability?. European Journal of Medical Genetics 55:4, 274-277
CrossRef6
Jennifer Gladys Mulle. (2012) Schizophrenia genetics: progress, at last. Current Opinion in Genetics & Development
CrossRef7
Dheeraj Malhotra, Jonathan Sebat. (2012) CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics. Cell 148:6, 1223-1241
CrossRef8
Yuwu Jiang, Yuehua Zhang, Pingping Zhang, Tian Sang, Feng Zhang, Taoyun Ji, Qionghui Huang, Han Xie, Renqian Du, Bin Cai, Haijuan Zhao, Jingmin Wang, Ye Wu, Husheng Wu, Keming Xu, Xiaoyan Liu, Piu Chan, Xiru Wu. (2012) NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy. Human Genetics
CrossRef9
Feero, W. Gregory, Guttmacher, Alan E., , Mefford, Heather C., Batshaw, Mark L., Hoffman, Eric P., . (2012) Genomics, Intellectual Disability, and Autism. New England Journal of Medicine 366:8, 733-743
Full Text10
Jill A Rosenfeld, Ryan N Traylor, G Bradley Schaefer, Elizabeth W McPherson, Blake C Ballif, Eva Klopocki, Stefan Mundlos, Lisa G Shaffer, Arthur S Aylsworth. (2012) Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. European Journal of Human Genetics
CrossRef11
Nicolien M Hanemaaijer, Birgit Sikkema-Raddatz, Gerben van der Vries, Trijnie Dijkhuizen, Roel Hordijk, Anthonie J van Essen, Hermine E Veenstra-Knol, Wilhelmina S Kerstjens-Frederikse, Johanna C Herkert, Erica H Gerkes, Lamberta K Leegte, Klaas Kok, Richard J Sinke, Conny M A van Ravenswaaij-Arts. (2012) Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics. European Journal of Human Genetics 20:2, 161-165
CrossRef12
Ron Hochstenbach, Martin Poot, Isaac J Nijman, Ivo Renkens, Karen J Duran, Ruben van'T Slot, Ellen van Binsbergen, Bert van der Zwaag, Maartje J Vogel, Paulien A Terhal, Hans Kristian Ploos van Amstel, Wigard P Kloosterman, Edwin Cuppen. (2012) Discovery of variants unmasked by hemizygous deletions. European Journal of Human Genetics
CrossRef13
Kimberly J. Moles, Gordon C. Gowans, Satyanarayana Gedela, David Beversdorf, Arthur Yu, Laurie H. Seaver, Roger A. Schultz, Jill A. Rosenfeld, Beth S. Torchia, Lisa G. Shaffer. (2012) NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype. Genetics in Medicine
CrossRef14
K. Stouffs, D. Vandermaelen, A. Massart, B. Menten, S. Vergult, H. Tournaye, W. Lissens. (2012) Array comparative genomic hybridization in male infertility. Human Reproduction
CrossRef15
Marian Reiff, Barbara A. Bernhardt, Surabhi Mulchandani, Danielle Soucier, Diana Cornell, Reed E. Pyeritz, Nancy B. Spinner. (2012) “What does it mean?”: Uncertainties in understanding results of chromosomal microarray testing. Genetics in Medicine
CrossRef16
Alison Millson, Danielle LaGrave, Mary J.H. Willis, Leslie R. Rowe, Elaine Lyon, Sarah T. South. (2012) Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability. American Journal of Medical Genetics Part A 158A:1, 159-165
CrossRef17
Chad R. Haldeman-Englert, Sulagna C. Saitta, Elaine H. Zackai. 2012. Specific Chromosome Disorders in Newborns. , 196-208.
CrossRef18
AM Lehman, C du Souich, D Chai, P Eydoux, JL Huang, AK Fok, L Avila, J Swingland, AD Delaney, B McGillivray, D Goldowitz, B Argiropoulos, MS Kobor, CF Boerkoel. (2012) 19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression. Clinical Genetics 81:1, 56-63
CrossRef19
Kevin J Mitchell. (2012) What is complex about complex disorders?. Genome Biology 13:1, 237
CrossRef20
Isabel Filges, Luzia Suda, Peter Weber, Alexandre N. Datta, Dirk Fischer, Patricia Dill, Réné Glanzmann, Jörg Benzing, Lukas Hegi, Friedel Wenzel, Andreas R. Huber, Andrea Capone Mori, Peter Miny, Benno Röthlisberger. (2012) High resolution array in the clinical approach to chromosomal phenotypes. Gene
CrossRef21
Moneef Shoukier, Nina Klein, Bernd Auber, Julia Wickert, Julia Schröder, Barbara Zoll, Peter Burfeind, Iris Bartels, Ebru Aileen Alsat, Michael Lingen, Pawel Grzmil, Sandra Schulze, Johanna Keyser, Dagmar Weise, Maike Borchers, Elke Hobbiebrunken, Markus Röbl, Jutta Gärtner, Knut Brockmann, Birgit Zirn. (2012) Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?. Clinical Geneticsno-no
CrossRef22
Franziska Degenhardt, Lutz Priebe, Stefan Herms, Manuel Mattheisen, Thomas W. Mühleisen, Sandra Meier, Susanne Moebus, Jana Strohmaier, Magdalena Groß, René Breuer, Christoph Lange, Per Hoffmann, Andreas Meyer-Lindenberg, Andreas Heinz, Henrik Walter, Susanne Lucae, Christiane Wolf, Bertram Müller-Myhsok, Florian Holsboer, Wolfgang Maier, Marcella Rietschel, Markus M. Nöthen, Sven Cichon. (2012) Association between copy number variants in 16p11.2 and major depressive disorder in a German case-control sample. American Journal of Medical Genetics Part B: Neuropsychiatric Geneticsn/a-n/a
CrossRef23
Paweł Stankiewicz, Shashikant Kulkarni, Avinash V. Dharmadhikari, Srirangan Sampath, Samarth S. Bhatt, Tamim H. Shaikh, Zhilian Xia, Amber N. Pursley, M. Lance Cooper, Marwan Shinawi, Alex R. Paciorkowski, Dorothy K. Grange, Michael J. Noetzel, Scott Saunders, Paul Simons, Marshall Summar, Brendan Lee, Fernando Scaglia, Florence Fellmann, Danielle Martinet, Jacques S. Beckmann, Alexander Asamoah, Kathryn Platky, Susan Sparks, Ann S. Martin, Suneeta Madan-Khetarpal, Jacqueline Hoover, Livija Medne, Carsten G. Bonnemann, John B. Moeschler, Stephanie E. Vallee, Sumit Parikh, Polly Irwin, Victoria P. Dalzell, Wendy E. Smith, Valerie C. Banks, David B. Flannery, Carolyn M. Lovell, Gary A. Bellus, Kathryn Golden-Grant, Jerome L. Gorski, Jennifer L. Kussmann, Tracy L. McGregor, Rizwan Hamid, Jean Pfotenhauer, Blake C. Ballif, Chad A. Shaw, Sung-Hae L. Kang, Carlos A. Bacino, Ankita Patel, Jill A. Rosenfeld, Sau Wai Cheung, Lisa G. Shaffer. (2012) Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Human Mutation 33:1, 165-179
CrossRef24
Elizabeth K Ruzzo, Andrea L Pappas, David B Goldstein. (2012) Modifier genetics in neuropsychiatric disease: challenges and opportunities. Genome Biology 13:3, 150
CrossRef25
Bradley P. Coe, Santhosh Girirajan, Evan E. Eichler. (2012) The genetic variability and commonality of neurodevelopmental disease. American Journal of Medical Genetics Part C: Seminars in Medical Geneticsn/a-n/a
CrossRef26
R. Soemedi, A. Topf, I. J. Wilson, R. Darlay, T. Rahman, E. Glen, D. Hall, N. Huang, J. Bentham, S. Bhattacharya, C. Cosgrove, J. D. Brook, J. Granados-Riveron, K. Setchfield, F. Bu'Lock, C. Thornborough, K. Devriendt, J. Breckpot, M. Hofbeck, M. Lathrop, A. Rauch, G. M. Blue, D. S. Winlaw, M. Hurles, M. Santibanez-Koref, H. J. Cordell, J. A. Goodship, B. D. Keavney. (2011) Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. Human Molecular Genetics
CrossRef27
Santhosh Girirajan, Catarina D. Campbell, Evan E. Eichler. (2011) Human Copy Number Variation and Complex Genetic Disease. Annual Review of Genetics 45:1, 203-226
CrossRef28
Kristen L. Deak, Sarah R. Horn, Catherine W. Rehder. (2011) The Evolving Picture of Microdeletion/Microduplication Syndromes in the Age of Microarray Analysis: Variable Expressivity and Genomic Complexity. Clinics in Laboratory Medicine 31:4, 543-564
CrossRef29
Tiffany H. Vu, Emil F. Coccaro, Evan E. Eichler, Santhosh Girirajan. (2011) Genomic architecture of aggression: Rare copy number variants in intermittent explosive disorder. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156:7, 808-816
CrossRef30
Elliott Rees, Valentina Moskvina, Michael J. Owen, Michael C. O'Donovan, George Kirov. (2011) De Novo Rates and Selection of Schizophrenia-Associated Copy Number Variants. Biological Psychiatry 70:12, 1109-1114
CrossRef31
Kristen J. Brennand, Fred H. Gage. (2011) Concise Review: The Promise of Human Induced Pluripotent Stem Cell-Based Studies of Schizophrenia. STEM CELLS 29:12, 1915-1922
CrossRef32
Paola Giordano, Valerio Cecinati, Massimo Grassi, Lucia Giordani, Delia De Mattia, Nicola Santoro. (2011) Langerhans cell histiocytosis in a pediatric patient with thrombocytopenia-absent radius syndrome and 1q21.1 deletion: case report and proposal of a rapid molecular diagnosis of 1q21.1 deletion. Immunopharmacology and Immunotoxicology 33:4, 754-758
CrossRef33
Živilė Čiuladaitė, Jūratė Kasnauskienė, Loreta Cimbalistienė, Eglė Preikšaitienė, Philippos C. Patsalis, Vaidutis Kučinskas. (2011) Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity. Journal of Applied Genetics 52:4, 443-449
CrossRef34
Jill Clayton-Smith, James O'Sullivan, Sarah Daly, Sanjeev Bhaskar, Ruth Day, Beverley Anderson, Anne K. Voss, Tim Thomas, Leslie G. Biesecker, Philip Smith, Alan Fryer, Kate E. Chandler, Bronwyn Kerr, May Tassabehji, Sally-Ann Lynch, Malgorzata Krajewska-Walasek, Shane McKee, Janine Smith, Elizabeth Sweeney, Sahar Mansour, Shehla Mohammed, Dian Donnai, Graeme Black. (2011) Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome. The American Journal of Human Genetics 89:5, 675-681
CrossRef35
Ilse Feenstra, Nicolien Hanemaaijer, Birgit Sikkema-Raddatz, Helger Yntema, Trijnie Dijkhuizen, Dorien Lugtenberg, Joke Verheij, Andrew Green, Roel Hordijk, William Reardon, Bert de Vries, Han Brunner, Ernie Bongers, Nicole de Leeuw, Conny van Ravenswaaij-Arts. (2011) Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis. European Journal of Human Genetics 19:11, 1152-1160
CrossRef36
Periklis Makrythanasis, Stefania Gimelli, Frédérique Béna, Sophie Dahoun, Michael A. Morris, Stylianos E. Antonarakis, Armand Bottani. (2011) Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: Could biallelic loss of conserved, non-coding elements lead to a phenotype?. European Journal of Medical Genetics
CrossRef37
Detelina Grozeva, Donald F. Conrad, Chris P. Barnes, Matthew Hurles, Michael J. Owen, Michael C. O'Donovan, Nick Craddock, George Kirov. (2011) Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia. Schizophrenia Research
CrossRef38
Matthew W State, Pat Levitt. (2011) The conundrums of understanding genetic risks for autism spectrum disorders. Nature Neuroscience 14:12, 1499-1506
CrossRef39
Jacobine E. Buizer-Voskamp, Jan-Willem Muntjewerff, Eric Strengman, Chiara Sabatti, Hreinn Stefansson, Jacob A.S. Vorstman, Roel A. Ophoff. (2011) Genome-Wide Analysis Shows Increased Frequency of Copy Number Variation Deletions in Dutch Schizophrenia Patients. Biological Psychiatry 70:7, 655-662
CrossRef40
David N. Cooper, Albino Bacolla, Claude Férec, Karen M. Vasquez, Hildegard Kehrer-Sawatzki, Jian-Min Chen. (2011) On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease. Human Mutation 32:10, 1075-1099
CrossRef41
Rachel D. Burnside, Romela Pasion, Fady M. Mikhail, Andrew J. Carroll, Nathaniel H. Robin, Erin L. Youngs, Inder K. Gadi, Elizabeth Keitges, Vikram L. Jaswaney, Peter R. Papenhausen, Venkateswara R. Potluri, Hiba Risheg, Brooke Rush, Janice L. Smith, Stuart Schwartz, James H. Tepperberg, Merlin G. Butler. (2011) Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. Human Genetics 130:4, 517-528
CrossRef42
Trilochan Sahoo, Aaron Theisen, Jill A. Rosenfeld, Allen N. Lamb, J. Britt Ravnan, Roger A. Schultz, Beth S. Torchia, Nicholas Neill, Ian Casci, Bassem A. Bejjani, Lisa G. Shaffer. (2011) Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. Genetics in Medicine 13:10, 868-880
CrossRef43
Pablo V. Gejman, Alan R. Sanders, Kenneth S. Kendler. (2011) Genetics of Schizophrenia: New Findings and Challenges. Annual Review of Genomics and Human Genetics 12:1, 121-144
CrossRef44
Erin B. Kaminsky, Vineith Kaul, Justin Paschall, Deanna M. Church, Brian Bunke, Dawn Kunig, Daniel Moreno-De-Luca, Andres Moreno-De-Luca, Jennifer G. Mulle, Stephen T. Warren, Gabriele Richard, John G. Compton, Amy E. Fuller, Troy J. Gliem, Shuwen Huang, Morag N. Collinson, Sarah J. Beal, Todd Ackley, Diane L. Pickering, Denae M. Golden, Emily Aston, Heidi Whitby, Shashirekha Shetty, Michael R. Rossi, M. Katharine Rudd, Sarah T. South, Arthur R. Brothman, Warren G. Sanger, Ramaswamy K. Iyer, John A. Crolla, Erik C. Thorland, Swaroop Aradhya, David H. Ledbetter, Christa L. Martin. (2011) An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genetics in Medicine 13:9, 777-784
CrossRef45
Daniel H. Geschwind. (2011) Genetics of autism spectrum disorders. Trends in Cognitive Sciences 15:9, 409-416
CrossRef46
Gregory M Cooper, Bradley P Coe, Santhosh Girirajan, Jill A Rosenfeld, Tiffany H Vu, Carl Baker, Charles Williams, Heather Stalker, Rizwan Hamid, Vickie Hannig, Hoda Abdel-Hamid, Patricia Bader, Elizabeth McCracken, Dmitriy Niyazov, Kathleen Leppig, Heidi Thiese, Marybeth Hummel, Nora Alexander, Jerome Gorski, Jennifer Kussmann, Vandana Shashi, Krys Johnson, Catherine Rehder, Blake C Ballif, Lisa G Shaffer, Evan E Eichler. (2011) A copy number variation morbidity map of developmental delay. Nature Genetics 43:9, 838-846
CrossRef47
A. Nicoulaz, F. Rubi, L. Lieder, R. Wolf, B. Goeggel-Simonetti, M. Steinlin, R. Wiest, H.M. Bonel, A. Schaller, S. Gallati, B. Conrad. (2011) Contiguous
16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality. American Journal of Medical Genetics Part A 155:8, 1964-1968
CrossRef48
Richard Holt, Anthony P. Monaco. (2011) Links between genetics and pathophysiology in the autism spectrum disorders. EMBO Molecular Medicine 3:8, 438-450
CrossRef49
Stephen W. Scherer, Geraldine Dawson. (2011) Risk factors for autism: translating genomic discoveries into diagnostics. Human Genetics 130:1, 123-148
CrossRef50
Christine M Freitag. (2011) Genetic risk in autism: new associations and clinical testing. Expert Opinion on Medical Diagnostics 5:4, 347-356
CrossRef51
AL Mosca-Boidron, S Bouquillon, L Faivre, P Callier, J Andrieux, N Marle, C Bonnet, C Vincent-Delorme, M Berri, G Plessis, S Manouvrier-Hanu, A Dieux-Coeslier, C Thauvin-Robinet, E Pipiras, A Delahaye, M Payet, C Ragon, A Masurel-Paulet, E Questiaux, B Benzacken, P Jonveaux, F Mugneret, M Holder-Espinasse. (2011) What can we learn from old microdeletion syndromes using array-CGH screening?. Clinical Geneticsno-no
CrossRef52
Tiong Yang Tan, Amanda Collins, Paul A. James, George McGillivray, Zornitza Stark, Christopher T. Gordon, Richard J. Leventer, Kate Pope, Robin Forbes, John A. Crolla, Devika Ganesamoorthy, Trent Burgess, Damien L. Bruno, Howard R. Slater, Peter G. Farlie, David J. Amor. (2011) Phenotypic variability of distal 22q11.2 copy number abnormalities. American Journal of Medical Genetics Part A 155:7, 1623-1633
CrossRef53
Claude Bouchard, Tuomo Rankinen, James A. Timmons. 2011. Genomics and Genetics in the Biology of Adaptation to Exercise. .
CrossRef54
Christopher P. Barnett, William Reardon. 2011. Chromosomes and the Skin. , 116.1-116.19.
CrossRef55
Irina Balikova, Thomy de Ravel, Carmen Ayuso, Bernard Thienpont, Ingele Casteels, Cristina Villaverde, Koenraad Devriendt, Jean-Pierre Fryns, Joris Robert Vermeesch. (2011) High Frequency Of Submicroscopic Chromosomal Deletions in Patients with Idiopathic Congenital Eye Malformations. American Journal of Ophthalmology 151:6, 1087-1094.e45
CrossRef56
Garret O’Connell, Stephen M. Lawrie, Andrew M. McIntosh, Jeremy Hall. (2011) Schizophrenia risk genes: Implications for future drug development and discovery. Biochemical Pharmacology 81:12, 1367-1373
CrossRef57
Catherine E. Cottrell, Natalie Bir, Elizabeth Varga, Carlos E. Alvarez, Samuel Bouyain, Randall Zernzach, Devon L. Thrush, Johnna Evans, Michael Trimarchi, Eric M. Butter, David Cunningham, Julie M. Gastier-Foster, Kim L. McBride, Gail E. Herman. (2011) Contactin 4 as an autism susceptibility locus. Autism Research 4:3, 189-199
CrossRef58
Boris Keren, Cedric Le Caignec. (2011) Oligonucleotide microarrays in constitutional genetic diagnosis. Expert Review of Molecular Diagnostics 11:5, 521-532
CrossRef59
Jill A Rosenfeld, Lindsey E Stephens, Justine Coppinger, Blake C Ballif, Joe J Hoo, Beatrice N French, Valerie C Banks, Wendy E Smith, David Manchester, Anne Chun-Hui Tsai, Katrina Merrion, Roberto Mendoza-Londono, Lucie Dupuis, Roger Schultz, Beth Torchia, Trilochan Sahoo, Bassem Bejjani, David D Weaver, Lisa G Shaffer. (2011) Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes. European Journal of Human Genetics 19:5, 547-554
CrossRef60
Andrew McQuillin, Nicholas Bass, Adebayo Anjorin, Jacob Lawrence, Radhika Kandaswamy, Greg Lydall, Jennifer Moran, Pamela Sklar, Shaun Purcell, Hugh Gurling. (2011) Analysis of genetic deletions and duplications in the University College London bipolar disorder case control sample. European Journal of Human Genetics 19:5, 588-592
CrossRef61
Matthew W. State. (2011) The Erosion of Phenotypic Specificity in Psychiatric Genetics: Emerging Lessons from CNTNAP2. Biological Psychiatry 69:9, 816-817
CrossRef62
Daniel Moreno-De-Luca, Joseph F. Cubells. (2011) Copy Number Variants: A New Molecular Frontier in Clinical Psychiatry. Current Psychiatry Reports 13:2, 129-137
CrossRef63
E. Klopocki. (2011) Molekulare Karyotypisierung. Der Gynäkologe 44:4, 285-290
CrossRef64
Lisa G. Shaffer, Bassem A. Bejjani. (2011) Development of new postnatal diagnostic methods for chromosome disorders. Seminars in Fetal and Neonatal Medicine 16:2, 114-118
CrossRef65
James T. R. Walters, Michael O'Donovan, Michael J. Owen. 2011. The Genetics of Schizophrenia. , 109-140.
CrossRef66
Bregje W M van Bon, Jorune Balciuniene, Gary Fruhman, Sandesh Chakravarthy Sreenath Nagamani, Diane L Broome, Elizabeth Cameron, Danielle Martinet, Eliane Roulet, Sebastien Jacquemont, Jacques S Beckmann, Mira Irons, Lorraine Potocki, Brendan Lee, Sau Wai Cheung, Ankita Patel, Melissa Bellini, Angelo Selicorni, Roberto Ciccone, Margherita Silengo, Annalisa Vetro, Nine V Knoers, Nicole de Leeuw, Rolph Pfundt, Barry Wolf, Petr Jira, Swaroop Aradhya, Pawel Stankiewicz, Han G Brunner, Orsetta Zuffardi, Scott B Selleck, James R Lupski, Bert B A de Vries. (2011) The phenotype of recurrent 10q22q23 deletions and duplications. European Journal of Human Genetics 19:4, 400-408
CrossRef67
Orsetta Zuffardi, Annalisa Vetro, Paul Brady, Joris Vermeesch. (2011) Array technology in prenatal diagnosis. Seminars in Fetal and Neonatal Medicine 16:2, 94-98
CrossRef68
Michael Bloch, Matthew State, Christopher Pittenger. (2011) Recent advances in Tourette syndrome. Current Opinion in Neurology 24:2, 119-125
CrossRef69
Lisenka E. L. M. Vissers, Joris A. Veltman. 2011. Impact of Genomewide Structural Variation on Gene Discovery. , 443-470.
CrossRef70
A M Addington, J Gauthier, A Piton, F F Hamdan, A Raymond, N Gogtay, R Miller, J Tossell, J Bakalar, G Germain, P Gochman, R Long, J L Rapoport, G A Rouleau. (2011) A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders. Molecular Psychiatry 16:3, 238-239
CrossRef71
Sandesh C Sreenath Nagamani, Ayelet Erez, Patricia Bader, Seema R Lalani, Daryl A Scott, Fernando Scaglia, Sharon E Plon, Chun-Hui Tsai, Tyler Reimschisel, Elizabeth Roeder, Amy D Malphrus, Patricia A Eng, Patricia M Hixson, Sung-Hae L Kang, Pawel Stankiewicz, Ankita Patel, Sau Wai Cheung. (2011) Phenotypic manifestations of copy number variation in chromosome 16p13.11. European Journal of Human Genetics 19:3, 280-286
CrossRef72
Catalina Betancur. (2011) Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting. Brain Research 1380, 42-77
CrossRef73
J. Byrne. (2011) Three generations of matrilineal excess of birth defects in Irish families with neural tube defects. Irish Journal of Medical Science 180:1, 69-72
CrossRef74
L Priebe, F A Degenhardt, S Herms, B Haenisch, M Mattheisen, V Nieratschker, M Weingarten, S Witt, R Breuer, T Paul, M Alblas, S Moebus, M Lathrop, M Leboyer, S Schreiber, M Grigoroiu-Serbanescu, W Maier, P Propping, M Rietschel, M M Nöthen, S Cichon, T W Mühleisen. (2011) Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorder. Molecular Psychiatry
CrossRef75
K. A. Fakhro, M. Choi, S. M. Ware, J. W. Belmont, J. A. Towbin, R. P. Lifton, M. K. Khokha, M. Brueckner. (2011) Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. Proceedings of the National Academy of Sciences 108:7, 2915-2920
CrossRef76
Kevin J Mitchell. (2011) The genetics of neurodevelopmental disease. Current Opinion in Neurobiology 21:1, 197-203
CrossRef77
Liesbeth Rooms, Geert Vandeweyer, Edwin Reyniers, Kurt van Mol, Ilse de Canck, Nathalie Van der Aa, Rudi Rossau, R. Frank Kooy. (2011) Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation. American Journal of Medical Genetics Part A 155:2, 343-348
CrossRef78
Krishnaswami Sankaranarayanan, Hooshang Nikjoo. (2011) Ionising radiation and genetic risks. XVI. A genome-based framework for risk estimation in the light of recent advances in genome research*. International Journal of Radiation Biology 87:2, 161-178
CrossRef79
Chansonette Harvard, Emma Strong, Eloi Mercier, Rita Colnaghi, Diana Alcantara, Eva Chow, Sally Martell, Christine Tyson, Monica Hrynchak, Barbara McGillivray, Sara Hamilton, Sandra Marles, Aziz Mhanni, Angelika J Dawson, Paul Pavlidis, Ying Qiao, Jeanette J Holden, Suzanne ME Lewis, Mark O'Driscoll, Evica Rajcan-Separovic. (2011) Understanding the impact of 1q21.1 copy number variant. Orphanet Journal of Rare Diseases 6:1, 54
CrossRef80
Lisa G. Shaffer. 2011. Innovations in the Early Diagnosis of Chromosomal Disorders Associated with Intellectual Disability. , 211-228.
CrossRef81
J. Breckpot, B. Thienpont, Y. Arens, L.C. Tranchevent, J.R. Vermeesch, Y. Moreau, M. Gewillig, K. Devriendt. (2011) Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects. Cytogenetic and Genome Research 135:3-4, 251-259
CrossRef82
N. de Leeuw, J.Y. Hehir-Kwa, A. Simons, A. Geurts van Kessel, D.F. Smeets, B.H.W. Faas, R. Pfundt. (2011) SNP Array Analysis in Constitutional and Cancer Genome Diagnostics – Copy Number Variants, Genotyping and Quality Control. Cytogenetic and Genome Research 135:3-4, 212-221
CrossRef83
A Ingason, D Rujescu, S Cichon, E Sigurdsson, T Sigmundsson, O P H Pietiläinen, J E Buizer-Voskamp, E Strengman, C Francks, P Muglia, A Gylfason, O Gustafsson, P I Olason, S Steinberg, T Hansen, K D Jakobsen, H B Rasmussen, I Giegling, H-J Möller, A Hartmann, C Crombie, G Fraser, N Walker, J Lonnqvist, J Suvisaari, A Tuulio-Henriksson, E Bramon, L A Kiemeney, B Franke, R Murray, E Vassos, T Toulopoulou, T W Mühleisen, S Tosato, M Ruggeri, S Djurovic, O A Andreassen, Z Zhang, T Werge, R A Ophoff, M Rietschel, M M Nöthen, H Petursson, H Stefansson, L Peltonen, D Collier, K Stefansson, D M St Clair. (2011) Copy number variations of chromosome 16p13.1 region associated with schizophrenia. Molecular Psychiatry 16:1, 17-25
CrossRef84
Larissa R Stewart, April L Hall, Sung-Hae L Kang, Chad A Shaw, Arthur L Beaudet. (2011) High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy. BMC Medical Genetics 12:1, 154
CrossRef85
Cristina Cuoco, Patrizia Ronchetto, Stefania Gimelli, Frédérique Béna, Maria Divizia, Margherita Lerone, Marisol Mirabelli-Badenier, Monica Mascaretti, Giorgio Gimelli. (2011) Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children. Orphanet Journal of Rare Diseases 6:1, 12
CrossRef86
Mi Hyun Bae, Han-Wook Yoo, Jin-Ok Lee, Maria Hong, Eul-Ju Seo. (2011) Molecular Cytogenetic Characterization of Supernumerary Marker Chromosomes by Chromosomal Microarray. Journal of Genetic Medicine 8:2, 119
CrossRef87
R. Hochstenbach, J.E. Buizer-Voskamp, J.A.S. Vorstman, R.A. Ophoff. (2011) Genome Arrays for the Detection of Copy Number Variations in Idiopathic Mental Retardation, Idiopathic Generalized Epilepsy and Neuropsychiatric Disorders: Lessons for Diagnostic Workflow and Research. Cytogenetic and Genome Research 135:3-4, 174-202
CrossRef88
Namik Kaya, Dilek Colak, Albandary Albakheet, Mohammad Al-Owain, Nada Abu-Dheim, Banan Al-Younes, Jawaher Al-Zahrani, Nahit M. Mukaddes, Aysin Dervent, Naji Al-Dosari, Ali Al-Odaib, Inci V. Kayaalp, Moeenaladin Al-Sayed, Zuhair Al-Hassnan, Michael J. Nester, Mohammad Al-Dosari, Hesham Al-Dhalaan, Aziza Chedrawi, Hulya Gunoz, Bedri Karakas, Nadia Sakati, Fowzan S. Alkuraya, Generaso G. Gascon, Pinar T. Ozand. (2011) A novel X-linked disorder with developmental delay and autistic features. Annals of Neurologyn/a-n/a
CrossRef89
Carlos A. Bacino, Brendan Lee. 2011. Cytogenetics. , 394-414.
CrossRef90
Michael C. O'Donovan, Michael J. Owen. 2010. Genetic Associations in Schizophrenia. , 269-288.
CrossRef91
Idit Maya, Bella Davidov, Liron Gershovitz, Yael Zalzstein, Ellen Taub, Justine Coppinger, Lisa G. Shaffer, Mordechai Shohat. (2010) Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting. Prenatal Diagnosis 30:12-13, 1131-1137
CrossRef92
Melissa B. Ramocki, Magdalena Bartnik, Przemyslaw Szafranski, Katarzyna E. Kołodziejska, Zhilian Xia, Jaclyn Bravo, G. Steve Miller, Diana L. Rodriguez, Charles A. Williams, Patricia I. Bader, Elżbieta Szczepanik, Tomasz Mazurczak, Dorota Antczak-Marach, James G. Coldwell, Cigdem I. Akman, Karen McAlmon, Melinda P. Cohen, James McGrath, Elizabeth Roeder, Jennifer Mueller, Sung-Hae L. Kang, Carlos A. Bacino, Ankita Patel, Ewa Bocian, Chad A. Shaw, Sau Wai Cheung, Tadeusz Mazurczak, Paweł Stankiewicz. (2010) Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems. The American Journal of Human Genetics 87:6, 857-865
CrossRef93
Jill A Rosenfeld, Blake C Ballif, Beth S Torchia, Trilochan Sahoo, J Britt Ravnan, Roger Schultz, Allen Lamb, Bassem A Bejjani, Lisa G Shaffer. (2010) Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. Genetics in Medicine 12:11, 694-702
CrossRef94
Eric M. Morrow. (2010) Genomic Copy Number Variation in Disorders of Cognitive Development. Journal of the American Academy of Child & Adolescent Psychiatry 49:11, 1091-1104
CrossRef95
LISA G SHAFFER, DAVID CHITAYAT. (2010) CHROMOSOMAL MICROARRAYS: THE BENEFITS AND CHALLENGES OF INTRODUCTION INTO PRENATAL DIAGNOSIS. Fetal and Maternal Medicine Review 21:04, 307-322
CrossRef96
Adam Shlien, Berivan Baskin, Maria Isabel W. Achatz, Dimitrios J. Stavropoulos, Kim E. Nichols, Louanne Hudgins, Chantal F. Morel, Margaret P. Adam, Nataliya Zhukova, Lianne Rotin, Ana Novokmet, Harriet Druker, Mary Shago, Peter N. Ray, Pierre Hainaut, David Malkin. (2010) A Common Molecular Mechanism Underlies Two Phenotypically Distinct 17p13.1 Microdeletion Syndromes. The American Journal of Human Genetics 87:5, 631-642
CrossRef97
S. Girirajan, E. E. Eichler. (2010) Phenotypic variability and genetic susceptibility to genomic disorders. Human Molecular Genetics 19:R2, R176-R187
CrossRef98
David T Miller. (2010) Genetic testing for autism: recent advances and clinical implications. Expert Review of Molecular Diagnostics 10:7, 837-840
CrossRef99
Ellen Hanson, Ramzi H. Nasir, Alexa Fong, Alyss Lian, Rachel Hundley, Yiping Shen, Bai-Lin Wu, Ingrid A. Holm, David T. Miller. (2010) Cognitive and Behavioral Characterization of 16p11.2 Deletion Syndrome. Journal of Developmental & Behavioral Pediatrics 31:8, 649-657
CrossRef100
A. Aleshin, D. Zhi. (2010) Recombination-Associated Sequence Homogenization of Neighboring Alu Elements: Signature of Nonallelic Gene Conversion. Molecular Biology and Evolution 27:10, 2300-2311
CrossRef101
Ruxandra Bachmann-Gagescu, Heather C Mefford, Charles Cowan, Gwen M Glew, Anne V Hing, Stephanie Wallace, Patricia I Bader, Aline Hamati, Pamela J Reitnauer, Rosemarie Smith, David W Stockton, Hiltrud Muhle, Ingo Helbig, Evan E Eichler, Blake C Ballif, Jill Rosenfeld, Karen D Tsuchiya. (2010) Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity. Genetics in Medicine 12:10, 641-647
CrossRef102
Miroslava Hancarova, Jana Drabova, Zuzana Zmitkova, Marketa Vlckova, Petra Hedvicakova, Drahuse Novotna, Zdenka Vlckova, Sarka Vejvalkova, Tatana Marikova, Zdenek Sedlacek. (2010) Array comparative genome hybridization in patients with developmental delay: two example cases. New Biotechnology
CrossRef103
Jubao Duan, Alan R. Sanders, Pablo V. Gejman. (2010) Genome-wide approaches to schizophrenia. Brain Research Bulletin 83:3-4, 93-102
CrossRef104
Tak Yeung Leung, Ritsuko K Pooh, Chi Chiu Wang, Tze Kin Lau, Kwong Wai Choy. (2010) Classification of pathogenic or benign status of CNVs detected by microarray analysis. Expert Review of Molecular Diagnostics 10:6, 717-721
CrossRef105
E. Vassos, D. A. Collier, S. Holden, C. Patch, D. Rujescu, D. St Clair, C. M. Lewis. (2010) Penetrance for copy number variants associated with schizophrenia. Human Molecular Genetics 19:17, 3477-3481
CrossRef106
Hans Hilger Ropers. (2010) Genetics of Early Onset Cognitive Impairment. Annual Review of Genomics and Human Genetics 11:1, 161-187
CrossRef107
Andrea L. Gropman, Mark L. Batshaw. (2010) Epigenetics, Copy Number Variation, and Other Molecular Mechanisms Underlying Neurodevelopmental Disabilities: New Insights and Diagnostic Approaches. Journal of Developmental & Behavioral Pediatrics 31:7, 582-591
CrossRef108
Jennifer Gladys Mulle, Anne F. Dodd, John A. McGrath, Paula S. Wolyniec, Adele A. Mitchell, Amol C. Shetty, Nara L. Sobreira, David Valle, M. Katharine Rudd, Glen Satten, David J. Cutler, Ann E. Pulver, Stephen T. Warren. (2010) Microdeletions of 3q29 Confer High Risk for Schizophrenia. The American Journal of Human Genetics 87:2, 229-236
CrossRef109
MW Wessels, PJ Willems. (2010) Genetic factors in non-syndromic congenital heart malformations. Clinical Genetics 78:2, 103-123
CrossRef110
A Masurel-Paulet, J Andrieux, P Callier, JM Cuisset, C Le Caignec, M Holder, C Thauvin-Robinet, B Doray, E Flori, MP Alex-Cordier, M Beri, O Boute, B Delobel, A Dieux, L Vallee, S Jaillard, S Odent, B Isidor, C Beneteau, J Vigneron, F Bilan, B Gilbert-Dussardier, C Dubourg, A Labalme, C Bidon, A Gautier, P Pernes, JM Pinoit, F Huet, F Mugneret, B Aral, P Jonveaux, D Sanlaville, L Faivre. (2010) Delineation of 15q13.3 microdeletions. Clinical Genetics 78:2, 149-161
CrossRef111
Martin Poot, Ron Hochstenbach. (2010) A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies. Genetics in Medicine 12:8, 478-485
CrossRef112
Michelle Dolan, Nancy J Mendelsohn, Mary Ella Pierpont, Lisa A Schimmenti, Susan A Berry, Betsy Hirsch. (2010) A novel microdeletion/microduplication syndrome of 19p13.13. Genetics in Medicine 12:8, 503-511
CrossRef113
Adriana Lo-Castro, Arianna Benvenuto, Cinzia Galasso, Cristina Porfirio, Paolo Curatolo. (2010) Autism spectrum disorders associated with chromosomal abnormalities. Research in Autism Spectrum Disorders 4:3, 319-327
CrossRef114
Milen Velinov, Natalia Dolzhanskaya. (2010) Clavicular pseudoarthrosis, anomalous coronary artery and extra crease of the fifth finger-previously unreported features in individuals with class II 1q21.1 microdeletions. European Journal of Medical Genetics 53:4, 213-216
CrossRef115
F. Bena, S. Gimelli, E. Migliavacca, N. Brun-Druc, K. Buiting, S. E. Antonarakis, A. J. Sharp. (2010) A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats. Human Molecular Genetics 19:10, 1967-1973
CrossRef116
Debra L Silver, Dawn E Watkins-Chow, Karisa C Schreck, Tarran J Pierfelice, Denise M Larson, Anthony J Burnetti, Hung-Jiun Liaw, Kyungjae Myung, Christopher A Walsh, Nicholas Gaiano, William J Pavan. (2010) The exon junction complex component Magoh controls brain size by regulating neural stem cell division. Nature Neuroscience 13:5, 551-558
CrossRef117
Pawel Stankiewicz, Amber N. Pursley, Sau Wai Cheung. (2010) Challenges in clinical interpretation of microduplications detected by array CGH analysis. American Journal of Medical Genetics Part A 152A:5, 1089-1100
CrossRef118
David T. Miller, Margaret P. Adam, Swaroop Aradhya, Leslie G. Biesecker, Arthur R. Brothman, Nigel P. Carter, Deanna M. Church, John A. Crolla, Evan E. Eichler, Charles J. Epstein, W. Andrew Faucett, Lars Feuk, Jan M. Friedman, Ada Hamosh, Laird Jackson, Erin B. Kaminsky, Klaas Kok, Ian D. Krantz, Robert M. Kuhn, Charles Lee, James M. Ostell, Carla Rosenberg, Stephen W. Scherer, Nancy B. Spinner, Dimitri J. Stavropoulos, James H. Tepperberg, Erik C. Thorland, Joris R. Vermeesch, Darrel J. Waggoner, Michael S. Watson, Christa Lese Martin, David H. Ledbetter. (2010) Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies. The American Journal of Human Genetics 86:5, 749-764
CrossRef119
Sung-Hae L. Kang, Chad Shaw, Zhishuo Ou, Patricia A. Eng, M. Lance Cooper, Amber N. Pursley, Trilochan Sahoo, Carlos A. Bacino, A. Craig Chinault, Pawel Stankiewicz, Ankita Patel, James R. Lupski, Sau Wai Cheung. (2010) Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results. American Journal of Medical Genetics Part A 152A:5, 1111-1126
CrossRef120
Jeroen Breckpot, Bernard Thienpont, Hilde Peeters, Thomy de Ravel, Amihood Singer, Maissa Rayyan, Karel Allegaert, Christine Vanhole, Benedicte Eyskens, Joris Robert Vermeesch, Marc Gewillig, Koenraad Devriendt. (2010) Array Comparative Genomic Hybridization as a Diagnostic Tool for Syndromic Heart Defects. The Journal of Pediatrics 156:5, 810-817.e4
CrossRef121
Jonathan S. Berg, Lorraine Potocki, Carlos A. Bacino. (2010) Common recurrent microduplication syndromes: Diagnosis and management in clinical practice. American Journal of Medical Genetics Part A 152A:5, 1066-1078
CrossRef122
Erin L. Heinzen, Rodney A. Radtke, Thomas J. Urban, Gianpiero L. Cavalleri, Chantal Depondt, Anna C. Need, Nicole M. Walley, Paola Nicoletti, Dongliang Ge, Claudia B. Catarino, John S. Duncan, Dalia Kasperavičiūte˙, Sarah K. Tate, Luis O. Caboclo, Josemir W. Sander, Lisa Clayton, Kristen N. Linney, Kevin V. Shianna, Curtis E. Gumbs, Jason Smith, Kenneth D. Cronin, Jessica M. Maia, Colin P. Doherty, Massimo Pandolfo, David Leppert, Lefkos T. Middleton, Rachel A. Gibson, Michael R. Johnson, Paul M. Matthews, David Hosford, Reetta Kälviäinen, Kai Eriksson, Anne-Mari Kantanen, Thomas Dorn, Jörg Hansen, Günter Krämer, Bernhard J. Steinhoff, Heinz-Gregor Wieser, Dominik Zumsteg, Marcos Ortega, Nicholas W. Wood, Julie Huxley-Jones, Mohamad Mikati, William B. Gallentine, Aatif M. Husain, Patrick G. Buckley, Ray L. Stallings, Mihai V. Podgoreanu, Norman Delanty, Sanjay M. Sisodiya, David B. Goldstein. (2010) Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes. The American Journal of Human Genetics 86:5, 707-718
CrossRef123
A. Ingason, I. Giegling, S. Cichon, T. Hansen, H. B. Rasmussen, J. Nielsen, G. Jurgens, P. Muglia, A. M. Hartmann, E. Strengman, C. Vasilescu, T. W. Muhleisen, S. Djurovic, I. Melle, B. Lerer, H.-J. Moller, C. Francks, O. P.H. Pietilainen, J. Lonnqvist, J. Suvisaari, A. Tuulio-Henriksson, M. Walshe, E. Vassos, M. Di Forti, R. Murray, C. Bonetto, S. Tosato, , R. M. Cantor, M. Rietschel, N. Craddock, M. J. Owen, L. Peltonen, O. A. Andreassen, M. M. Nothen, D. St Clair, R. A. Ophoff, M. C. O'Donovan, D. A. Collier, T. Werge, D. Rujescu. (2010) A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia. Human Molecular Genetics 19:7, 1379-1386
CrossRef124
Santhosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, Francesca Antonacci, Priscillia Siswara, Andy Itsara, Laura Vives, Tom Walsh, Shane E McCarthy, Carl Baker, Heather C Mefford, Jeffrey M Kidd, Sharon R Browning, Brian L Browning, Diane E Dickel, Deborah L Levy, Blake C Ballif, Kathryn Platky, Darren M Farber, Gordon C Gowans, Jessica J Wetherbee, Alexander Asamoah, David D Weaver, Paul R Mark, Jennifer Dickerson, Bhuwan P Garg, Sara A Ellingwood, Rosemarie Smith, Valerie C Banks, Wendy Smith, Marie T McDonald, Joe J Hoo, Beatrice N French, Cindy Hudson, John P Johnson, Jillian R Ozmore, John B Moeschler, Urvashi Surti, Luis F Escobar, Dima El-Khechen, Jerome L Gorski, Jennifer Kussmann, Bonnie Salbert, Yves Lacassie, Alisha Biser, Donna M McDonald-McGinn, Elaine H Zackai, Matthew A Deardorff, Tamim H Shaikh, Eric Haan, Kathryn L Friend, Marco Fichera, Corrado Romano, Jozef Gécz, Lynn E DeLisi, Jonathan Sebat, Mary-Claire King, Lisa G Shaffer, Evan E Eichler. (2010) A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics 42:3, 203-209
CrossRef125
Sylvie Jaillard, Séverine Drunat, Claude Bendavid, Azzedine Aboura, Amandine Etcheverry, Hubert Journel, Andrée Delahaye, Laurent Pasquier, Dominique Bonneau, Annick Toutain, Lydie Burglen, Agnès Guichet, Eva Pipiras, Brigitte Gilbert-Dussardier, Brigitte Benzacken, Dominique Martin-Coignard, Catherine Henry, Albert David, Josette Lucas, Jean Mosser, Véronique David, Sylvie Odent, Alain Verloes, Christèle Dubourg. (2010) Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series. European Journal of Medical Genetics 53:2, 66-75
CrossRef126
Thomas G. Schulze. (2010) Genetic Research into Bipolar Disorder: The Need for a Research Framework that Integrates Sophisticated Molecular Biology and Clinically Informed Phenotype Characterization. Psychiatric Clinics of North America 33:1, 67-82
CrossRef127
Gary Fruhman, Ignatia B. Van den Veyver. (2010) Applications of Array Comparative Genomic Hybridization in Obstetrics. Obstetrics and Gynecology Clinics of North America 37:1, 71-85
CrossRef128
Charles Lee, Stephen W. Scherer. (2010) The clinical context of copy number variation in the human genome. Expert Reviews in Molecular Medicine 12,
CrossRef129
Pablo V. Gejman, Alan R. Sanders, Jubao Duan. (2010) The Role of Genetics in the Etiology of Schizophrenia. Psychiatric Clinics of North America 33:1, 35-66
CrossRef130
M Fanciulli, E Petretto, TJ Aitman. (2010) Gene copy number variation and common human disease. Clinical Genetics 77:3, 201-213
CrossRef131
Bixia Xiang, Hongbo Zhu, Yiping Shen, David T. Miller, Kangmo Lu, Xiaofeng Hu, Hans C. Andersson, Tarachandra M. Narumanchi, Yueying Wang, Jose E. Martinez, Bai-Lin Wu, Peining Li, Marilyn M. Li, Tian-Jian Chen, Yao-Shan Fan. (2010) Genome-Wide Oligonucleotide Array Comparative Genomic Hybridization for Etiological Diagnosis of Mental Retardation. The Journal of Molecular Diagnostics 12:2, 204-212
CrossRef132
Mariko Sasaki, Julian Lange, Scott Keeney. (2010) Genome destabilization by homologous recombination in the germ line. Nature Reviews Molecular Cell Biology
CrossRef133
Bregje WM van Bon, David A Koolen, Louise Brueton, Dominic McMullan, Klaske D Lichtenbelt, Lesley C Adès, Gregory Peters, Kate Gibson, Francesca Novara, Tiziano Pramparo, Bernardo Dalla Bernardina, Leonardo Zoccante, Umberto Balottin, Fausta Piazza, Vanna Pecile, Paolo Gasparini, Veronica Guerci, Marleen Kets, Rolph Pfundt, Arjan P de Brouwer, Joris A Veltman, Nicole de Leeuw, Meredith Wilson, Jayne Antony, Santina Reitano, Daniela Luciano, Marco Fichera, Corrado Romano, Han G Brunner, Orsetta Zuffardi, Bert BA de Vries. (2010) The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. European Journal of Human Genetics 18:2, 163-170
CrossRef134
Paweł Stankiewicz, James R. Lupski. (2010) Structural Variation in the Human Genome and its Role in Disease. Annual Review of Medicine 61:1, 437-455
CrossRef135
C. M. B. Carvalho, F. Zhang, J. R. Lupski. (2010) Colloquium Paper: Genomic disorders: A window into human gene and genome evolution. Proceedings of the National Academy of Sciences 107:suppl_1, 1765-1771
CrossRef136
B. Crespi, P. Stead, M. Elliot. (2010) Colloquium Paper: Comparative genomics of autism and schizophrenia. Proceedings of the National Academy of Sciences 107:suppl_1, 1736-1741
CrossRef137
George Kirov. (2010) The role of copy number variation in schizophrenia. Expert Review of Neurotherapeutics 10:1, 25-32
CrossRef138
Adam Shlien, David Malkin. (2010) Copy number variations and cancer susceptibility. Current Opinion in Oncology 22:1, 55-63
CrossRef139
C. G. F. de Kovel, H. Trucks, I. Helbig, H. C. Mefford, C. Baker, C. Leu, C. Kluck, H. Muhle, S. von Spiczak, P. Ostertag, T. Obermeier, A. A. Kleefuss-Lie, K. Hallmann, M. Steffens, V. Gaus, K. M. Klein, H. M. Hamer, F. Rosenow, E. H. Brilstra, D. Kasteleijn-Nolst Trenite, M. E. M. Swinkels, Y. G. Weber, I. Unterberger, F. Zimprich, L. Urak, M. Feucht, K. Fuchs, R. S. Moller, H. Hjalgrim, P. De Jonghe, A. Suls, I.-M. Ruckert, H.-E. Wichmann, A. Franke, S. Schreiber, P. Nurnberg, C. E. Elger, H. Lerche, U. Stephani, B. P. C. Koeleman, D. Lindhout, E. E. Eichler, T. Sander. (2010) Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 133:1, 23-32
CrossRef140
Martin Poot, Marc J Eleveld, Ruben van 't Slot, Hans Kristian Ploos van Amstel, Ron Hochstenbach. (2010) Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex. European Journal of Human Genetics 18:1, 39-46
CrossRef141
J.A. Stockman. (2010) Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes. Yearbook of Pediatrics 2010, 300-302
CrossRef142
Jonathan Sebat, Deborah L. Levy, Shane E. McCarthy. (2009) Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. Trends in Genetics 25:12, 528-535
CrossRef143
Alison K. Merikangas, Aiden P. Corvin, Louise Gallagher. (2009) Copy-number variants in neurodevelopmental disorders: promises and challenges. Trends in Genetics 25:12, 536-544
CrossRef144
Karen D Tsuchiya, Lisa G Shaffer, Swaroop Aradhya, Julie M Gastier-Foster, Ankita Patel, M Katharine Rudd, Julie Sanford Biggerstaff, Warren G Sanger, Stuart Schwartz, James H Tepperberg, Erik C Thorland, Beth A Torchia, Arthur R Brothman. (2009) Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories. Genetics in Medicine 11:12, 866-873
CrossRef145
Hartmut Engels, Eva Wohlleber, Alexander Zink, Juliane Hoyer, Kerstin U Ludwig, Felix F Brockschmidt, Dagmar Wieczorek, Ute Moog, Birgit Hellmann-Mersch, Ruthild G Weber, Lionel Willatt, Martina Kreiß-Nachtsheim, Helen V Firth, Anita Rauch. (2009) A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients. European Journal of Human Genetics 17:12, 1592-1599
CrossRef146
A. C. Need, D. K. Attix, J. M. McEvoy, E. T. Cirulli, K. L. Linney, P. Hunt, D. Ge, E. L. Heinzen, J. M. Maia, K. V. Shianna, M. E. Weale, L. F. Cherkas, G. Clement, T. D. Spector, G. Gibson, D. B. Goldstein. (2009) A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. Human Molecular Genetics 18:23, 4650-4661
CrossRef147
Heather C Mefford. (2009) Genotype to phenotype—discovery and characterization of novel genomic disorders in a “genotype-first” era. Genetics in Medicine 11:12, 836-842
CrossRef148
Gloria W.C. Tam, Richard Redon, Nigel P. Carter, Seth G.N. Grant. (2009) The Role of DNA Copy Number Variation in Schizophrenia. Biological Psychiatry 66:11, 1005-1012
CrossRef149
Alex R. Paciorkowski, Min Fang. (2009) Chromosomal Microarray Interpretation: What Is a Child Neurologist to Do?. Pediatric Neurology 41:6, 391-398
CrossRef150
Adam C. Shaw, Raoul C.M. Hennekam. (2009) Interpreting humanity's genes. European Journal of Medical Genetics 52:6, 379-380
CrossRef151
Lauren A Weiss. (2009) Autism genetics: emerging data from genome-wide copy-number and single nucleotide polymorphism scans. Expert Review of Molecular Diagnostics 9:8, 795-803
CrossRef152
Shane E McCarthy, Vladimir Makarov, George Kirov, Anjene M Addington, Jon McClellan, Seungtai Yoon, Diana O Perkins, Diane E Dickel, Mary Kusenda, Olga Krastoshevsky, Verena Krause, Ravinesh A Kumar, Detelina Grozeva, Dheeraj Malhotra, Tom Walsh, Elaine H Zackai, Paige Kaplan, Jaya Ganesh, Ian D Krantz, Nancy B Spinner, Patricia Roccanova, Abhishek Bhandari, Kevin Pavon, B Lakshmi, Anthony Leotta, Jude Kendall, Yoon-ha Lee, Vladimir Vacic, Sydney Gary, Lilia M Iakoucheva, Timothy J Crow, Susan L Christian, Jeffrey A Lieberman, T Scott Stroup, Terho Lehtimäki, Kaija Puura, Chad Haldeman-Englert, Justin Pearl, Meredith Goodell, Virginia L Willour, Pamela DeRosse, Jo Steele, Layla Kassem, Jessica Wolff, Nisha Chitkara, Francis J McMahon, Anil K Malhotra, James B Potash, Thomas G Schulze, Markus M Nöthen, Sven Cichon, Marcella Rietschel, Ellen Leibenluft, Vlad Kustanovich, Clara M Lajonchere, James S Sutcliffe, David Skuse, Michael Gill, Louise Gallagher, Nancy R Mendell, Nick Craddock, Michael J Owen, Michael C O'Donovan, Tamim H Shaikh, Ezra Susser, Lynn E DeLisi, Patrick F Sullivan, Curtis K Deutsch, Judith Rapoport, Deborah L Levy, Mary-Claire King, Jonathan Sebat. (2009) Microduplications of 16p11.2 are associated with schizophrenia. Nature Genetics 41:11, 1223-1227
CrossRef153
Karen Buysse, Barbara Delle Chiaie, Rudy Van Coster, Bart Loeys, Anne De Paepe, Geert Mortier, Frank Speleman, Björn Menten. (2009) Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience. European Journal of Medical Genetics 52:6, 398-403
CrossRef154
A. Bertolino, G. Blasi. (2009) The genetics of schizophrenia. Neuroscience 164:1, 288-299
CrossRef155
Teri A. Manolio, Francis S. Collins, Nancy J. Cox, David B. Goldstein, Lucia A. Hindorff, David J. Hunter, Mark I. McCarthy, Erin M. Ramos, Lon R. Cardon, Aravinda Chakravarti, Judy H. Cho, Alan E. Guttmacher, Augustine Kong, Leonid Kruglyak, Elaine Mardis, Charles N. Rotimi, Montgomery Slatkin, David Valle, Alice S. Whittemore, Michael Boehnke, Andrew G. Clark, Evan E. Eichler, Greg Gibson, Jonathan L. Haines, Trudy F. C. Mackay, Steven A. McCarroll, Peter M. Visscher. (2009) Finding the missing heritability of complex diseases. Nature 461:7265, 747-753
CrossRef156
L. E.L.M. Vissers, S. S. Bhatt, I. M. Janssen, Z. Xia, S. R. Lalani, R. Pfundt, K. Derwinska, B. B.A. de Vries, C. Gilissen, A. Hoischen, M. Nesteruk, B. Wisniowiecka-Kowalnik, M. Smyk, H. G. Brunner, S. W. Cheung, A. G. van Kessel, J. A. Veltman, P. Stankiewicz. (2009) Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Human Molecular Genetics 18:19, 3579-3593
CrossRef157
SARAH E. ALI-KHAN, ABDALLAH S. DAAR, CHERYL SHUMAN, PETER N. RAY, STEPHEN W. SCHERER. (2009) Whole Genome Scanning: Resolving Clinical Diagnosis and Management Amidst Complex Data. Pediatric Research 66:4, 357-363
CrossRef158
Feng Zhang, Wenli Gu, Matthew E. Hurles, James R. Lupski. (2009) Copy Number Variation in Human Health, Disease, and Evolution. Annual Review of Genomics and Human Genetics 10:1, 451-481
CrossRef159
Marilyn M. Li, Hans C. Andersson. (2009) Clinical Application of Microarray-Based Molecular Cytogenetics: An Emerging New Era of Genomic Medicine. The Journal of Pediatrics 155:3, 311-317
CrossRef160
H. J. Williams, M. J. Owen, M. C. O'Donovan. (2009) Schizophrenia genetics: new insights from new approaches. British Medical Bulletin 91:1, 61-74
CrossRef161
Uwe Heinrich, Imma Rost, Anthony Brown, Tony Gordon, Nick Haan, Jessica Massie. (2009) Array comparative genomic hybridisation in clinical diagnostics: principles and applications / Array-CGH in der klinischen Diagnostik: Prinzipien und Anwendungen. LaboratoriumsMedizin 33:5, 255-266
CrossRef162
M. K. Rudd, J. Keene, B. Bunke, E. B. Kaminsky, M. P. Adam, J. G. Mulle, D. H. Ledbetter, C. L. Martin. (2009) Segmental duplications mediate novel, clinically relevant chromosome rearrangements. Human Molecular Genetics 18:16, 2957-2962
CrossRef163
D. Gurwitz, I. Fortier, J. E. Lunshof, B. M. Knoppers. (2009) Children and Population Biobanks. Science 325:5942, 818-819
CrossRef164
Steven C Greenway, Alexandre C Pereira, Jennifer C Lin, Steven R DePalma, Samuel J Israel, Sonia M Mesquita, Emel Ergul, Jessie H Conta, Joshua M Korn, Steven A McCarroll, Joshua M Gorham, Stacey Gabriel, David M Altshuler, Maria de Lourdes Quintanilla-Dieck, Maria Alexandra Artunduaga, Roland D Eavey, Robert M Plenge, Nancy A Shadick, Michael E Weinblatt, Philip L De Jager, David A Hafler, Roger E Breitbart, Jonathan G Seidman, Christine E Seidman. (2009) De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nature Genetics 41:8, 931-935
CrossRef165
Natasha Shur, Dianne Abuelo. (2009) Genetic Syndromes: From Clinical Suspicion to Referral to Diagnosis. Pediatric Annals 38:8, 419-425
CrossRef166
Hreinn Stefansson, Roel A. Ophoff, Stacy Steinberg, Ole A. Andreassen, Sven Cichon, Dan Rujescu, Thomas Werge, Olli P. H. Pietiläinen, Ole Mors, Preben B. Mortensen, Engilbert Sigurdsson, Omar Gustafsson, Mette Nyegaard, Annamari Tuulio-Henriksson, Andres Ingason, Thomas Hansen, Jaana Suvisaari, Jouko Lonnqvist, Tiina Paunio, Anders D. Børglum, Annette Hartmann, Anders Fink-Jensen, Merete Nordentoft, David Hougaard, Bent Norgaard-Pedersen, Yvonne Böttcher, Jes Olesen, René Breuer, Hans-Jürgen Möller, Ina Giegling, Henrik B. Rasmussen, Sally Timm, Manuel Mattheisen, István Bitter, János M. Réthelyi, Brynja B. Magnusdottir, Thordur Sigmundsson, Pall Olason, Gisli Masson, Jeffrey R. Gulcher, Magnus Haraldsson, Ragnheidur Fossdal, Thorgeir E. Thorgeirsson, Unnur Thorsteinsdottir, Mirella Ruggeri, Sarah Tosato, Barbara Franke, Eric Strengman, Lambertus A. Kiemeney, GROUP†, Ingrid Melle, Srdjan Djurovic, Lilia Abramova, Vasily Kaleda, Julio Sanjuan, Rosa de Frutos, Elvira Bramon, Evangelos Vassos, Gillian Fraser, Ulrich Ettinger, Marco Picchioni, Nicholas Walker, Timi Toulopoulou, Anna C. Need, Dongliang Ge, Joeng Lim Yoon, Kevin V. Shianna, Nelson B. Freimer, Rita M. Cantor, Robin Murray, Augustine Kong, Vera Golimbet, Angel Carracedo, Celso Arango, Javier Costas, Erik G. Jönsson, Lars Terenius, Ingrid Agartz, Hannes Petursson, Markus M. Nöthen, Marcella Rietschel, Paul M. Matthews, Pierandrea Muglia, Leena Peltonen, David St Clair, David B. Goldstein, Kari Stefansson, David A. Collier, René S. Kahn, Don H. Linszen, Jim van Os, Durk Wiersma, Richard Bruggeman, Wiepke Cahn, Lieuwe de Haan, Lydia Krabbendam, Inez Myin-Germeys. (2009) Common variants conferring risk of schizophrenia. Nature
CrossRef167
Alice Masurel-Paulet, Patrick Callier, Christel Thauvin-Robinet, Mondher Chouchane, Nathalie Mejean, Nathalie Marle, Anne-Laure Mosca, Douraied Ben Salem, Maurice Giroud, Laurent Guibaud, Frédéric Huet, Francine Mugneret, Laurence Faivre. (2009) Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH. American Journal of Medical Genetics Part A 149A:7, 1504-1510
CrossRef168
Jozef Gécz, Cheryl Shoubridge, Mark Corbett. (2009) The genetic landscape of intellectual disability arising from chromosome X. Trends in Genetics 25:7, 308-316
CrossRef169
Dominic J. McMullan, Michael Bonin, Jayne Y. Hehir-Kwa, Bert B.A. de Vries, Andreas Dufke, Eleanor Rattenberry, Marloes Steehouwer, Luminita Moruz, Rolph Pfundt, Nicole de Leeuw, Angelika Riess, Ãzge Altug-Teber, Herbert Enders, Sylke Singer, Ute Grasshoff, Michael Walter, Judith M. Walker, Catherine V. Lamb, E. Val Davison, Louise Brueton, Olaf Riess, Joris A. Veltman. (2009) Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study. Human Mutation 30:7, 1082-1092
CrossRef170
Abraham Reichenberg, Jonathan Mill, James H. MacCabe. (2009) Epigenetics, genomic mutations and cognitive function. Cognitive Neuropsychiatry 14:4-5, 377-390
CrossRef171
Sharon J. Diskin, Cuiping Hou, Joseph T. Glessner, Edward F. Attiyeh, Marci Laudenslager, Kristopher Bosse, Kristina Cole, Yaël P. Mossé, Andrew Wood, Jill E. Lynch, Katlyn Pecor, Maura Diamond, Cynthia Winter, Kai Wang, Cecilia Kim, Elizabeth A. Geiger, Patrick W. McGrady, Alexandra I. F. Blakemore, Wendy B. London, Tamim H. Shaikh, Jonathan Bradfield, Struan F. A. Grant, Hongzhe Li, Marcella Devoto, Eric R. Rappaport, Hakon Hakonarson, John M. Maris. (2009) Copy number variation at 1q21.1 associated with neuroblastoma. Nature 459:7249, 987-991
CrossRef172
K. Vandepoele, V. Andries, F. van Roy. (2009) The NBPF1 Promoter Has Been Recruited from the Unrelated EVI5 Gene Before Simian Radiation. Molecular Biology and Evolution 26:6, 1321-1332
CrossRef173
Michael J Owen, Hywel J Williams, Michael C O’Donovan. (2009) Schizophrenia genetics: advancing on two fronts. Current Opinion in Genetics & Development 19:3, 266-270
CrossRef174
A. Reis, A. Rauch. (2009) Chromosomale Ursachen der geistigen Behinderung. medizinische genetik 21:2, 237-245
CrossRef175
Heather C Mefford, Evan E Eichler. (2009) Duplication hotspots, rare genomic disorders, and common disease. Current Opinion in Genetics & Development 19:3, 196-204
CrossRef176
Robert A Saul, John B Moeschler. (2009) How best to use CGH arrays in the clinical setting. Genetics in Medicine 11:5, 371-371
CrossRef177
Ravinesh A. Kumar, Susan L. Christian. (2009) Genetics of autism spectrum disorders. Current Neurology and Neuroscience Reports 9:3, 188-197
CrossRef178
C. N. Henrichsen, E. Chaignat, A. Reymond. (2009) Copy number variants, diseases and gene expression. Human Molecular Genetics 18:R1, R1-R8
CrossRef179
Helen V. Firth, Shola M. Richards, A. Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M. Pettett, Nigel P. Carter. (2009) DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. The American Journal of Human Genetics 84:4, 524-533
CrossRef180
Anjené M. Addington, Judith L. Rapoport. (2009) The genetics of childhood-onset schizophrenia: When madness strikes the prepubescent. Current Psychiatry Reports 11:2, 156-161
CrossRef181
Beben Benyamin, Peter M Visscher, Allan F McRae. (2009) Family-based genome-wide association studies. Pharmacogenomics 10:2, 181-190
CrossRef182
Bernard Crespi, Kyle Summers, Steve Dorus. (2009) ORIGINAL ARTICLE: Genomic sister-disorders of neurodevelopment: an evolutionary approach. Evolutionary Applications 2:1, 81-100
CrossRef183
Andy Itsara, Gregory M. Cooper, Carl Baker, Santhosh Girirajan, Jun Li, Devin Absher, Ronald M. Krauss, Richard M. Myers, Paul M. Ridker, Daniel I. Chasman, Heather Mefford, Phyllis Ying, Deborah A. Nickerson, Evan E. Eichler. (2009) Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease. The American Journal of Human Genetics 84:2, 148-161
CrossRef184
J. Peter H. Burbach, Bert van der Zwaag. (2009) Contact in the genetics of autism and schizophrenia. Trends in Neurosciences 32:2, 69-72
CrossRef185
G. Kirov, D. Grozeva, N. Norton, D. Ivanov, K. K. Mantripragada, P. Holmans, , , N. Craddock, M. J. Owen, M. C. O'Donovan. (2009) Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Human Molecular Genetics 18:8, 1497-1503
CrossRef186
D. St Clair. (2009) Copy Number Variation and Schizophrenia. Schizophrenia Bulletin 35:1, 9-12
CrossRef187
Hywel J Williams, Michael J Owen, Michael C O'Donovan. (2009) New findings from genetic association studies of schizophrenia. Journal of Human Genetics 54:1, 9-14
CrossRef188
Samantha JL Knight. 2008. Intellectual Disability: Genetics. .
CrossRef189
Michael C O'Donovan, George Kirov, Michael J Owen. (2008) Phenotypic variations on the theme of CNVs. Nature Genetics 40:12, 1392-1393
CrossRef190
Nicola Brunetti-Pierri, Jonathan S Berg, Fernando Scaglia, John Belmont, Carlos A Bacino, Trilochan Sahoo, Seema R Lalani, Brett Graham, Brendan Lee, Marwan Shinawi, Joseph Shen, Sung-Hae L Kang, Amber Pursley, Timothy Lotze, Gail Kennedy, Susan Lansky-Shafer, Christine Weaver, Elizabeth R Roeder, Theresa A Grebe, Georgianne L Arnold, Terry Hutchison, Tyler Reimschisel, Stephen Amato, Michael T Geragthy, Jeffrey W Innis, Ewa Obersztyn, Beata Nowakowska, Sally S Rosengren, Patricia I Bader, Dorothy K Grange, Sayed Naqvi, Adolfo D Garnica, Saunder M Bernes, Chin-To Fong, Anne Summers, W David Walters, James R Lupski, Pawel Stankiewicz, Sau Wai Cheung, Ankita Patel. (2008) Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nature Genetics 40:12, 1466-1471
CrossRef191
A. Rauch. (2008) Molekulare Karyotypisierung in der klinischen Diagnostik. medizinische genetik 20:4, 386-394
CrossRef192
Ledbetter, David H., . (2008) Cytogenetic Technology — Genotype and Phenotype. New England Journal of Medicine 359:16, 1728-1730
Full Text193
Edwin H. Cook. (2008) Literature review: adult structural MRI, postmortem GABA-A protein, 1q21.1 microdeletion/microduplication. Autism Research 1:5, 308-310
CrossRef194
Curtis K. Deutsch, William V. Dube, William J. McIlvane. (2008) Attention deficits, Attention-Deficit Hyperactivity Disorder, and intellectual disabilities. Developmental Disabilities Research Reviews 14:4, 285-292
CrossRef
- Glossary
Glossary
-
Comparative genomic hybridization (CGH):
An assay in which DNA samples from patients and from reference genomes are labeled with different fluorescent dyes and cohybridized to an array containing known DNA sequences. Differences in relative fluorescence intensities of hybridized DNA on the microarray reflect differences in copy number between the genome of the patients and reference DNA.
-
Nonallelic homologous recombination:
Aberrant meiotic recombination between nonallelic segmental duplications that are highly homologous but located at different places on the chromosome. This recombination causes duplication, deletion, or inversion of the sequence between the homologous blocks of DNA.
-
Segmental duplications:
Large stretches of DNA (>1 kb in length), with more than 90% sequence identity, that are present at two or more places in the genome. These duplication blocks often include one or more genes and constitute approximately 5% of the human genome. They are also referred to as low-copy repeats or duplicons.
-
