Identification of novel candidate disease genes from de novo exonic copy number variants

[1]  Juliane Hoyer,et al.  Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. , 2017, American journal of human genetics.

[2]  Mahshid S. Azamian,et al.  Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability , 2017, PloS one.

[3]  Michael F. Wangler,et al.  Lessons learned from additional research analyses of unsolved clinical exome cases , 2017, Genome Medicine.

[4]  J. Rosenfeld,et al.  Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features , 2017, Human Genetics.

[5]  Stephan J Sanders,et al.  De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. , 2017, American journal of human genetics.

[6]  C. Shaw,et al.  Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort , 2016, Nucleic acids research.

[7]  R. Pfundt,et al.  Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism , 2016, Human Genetics.

[8]  Mahshid S. Azamian,et al.  Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO , 2016, Journal of Medical Genetics.

[9]  J. Lupski,et al.  Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. , 2016, American journal of human genetics.

[10]  Samuel S. Gross,et al.  Genome-wide characteristics of de novo mutations in autism , 2016, npj Genomic Medicine.

[11]  J. Rosenfeld,et al.  Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate , 2016, BMC Medical Genomics.

[12]  R. Takai,et al.  A commentary on de novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux , 2016, Journal of Human Genetics.

[13]  N. Matsumoto,et al.  De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux , 2016, Journal of Human Genetics.

[14]  J. Lupski.  Clinical genomics: from a truly personal genome viewpoint , 2016, Human Genetics.

[15]  Susan Shur-Fen Gau,et al.  Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder , 2016, Molecular Autism.

[16]  Mahshid S. Azamian,et al.  Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. , 2016, American journal of human genetics.

[17]  R. Durbin,et al.  Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy. , 2016, American Journal of Human Genetics.

[18]  M. Oti,et al.  Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts , 2015, Human Genetics.

[19]  S. Krauss,et al.  Meis2 is essential for cranial and cardiac neural crest development , 2015, BMC Developmental Biology.

[20]  J. Lupski,et al.  Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. , 2015, American journal of human genetics.

[21]  W. Chung,et al.  Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease , 2015, Neuron.

[22]  James Y. Zou.  Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[23]  Michael M. Halassa,et al.  Thalamic reticular impairment underlies attention deficit in Ptchd1Y/− mice , 2015, Nature.

[24]  B. Thompson,et al.  MST kinases in development and disease , 2015, The Journal of cell biology.

[25]  C. Cytrynbaum,et al.  Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder , 2015, Clinical genetics.

[26]  G. Winterer,et al.  Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy , 2015, Epilepsia.

[27]  Tom R. Gaunt,et al.  Title : Copy number variations and cognitive phenotypes in unselected populations , 2022 .

[28]  Karynne E. Patterson,et al.  The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. , 2015, American journal of human genetics.

[29]  J. Lupski,et al.  Secondary findings and carrier test frequencies in a large multiethnic sample , 2015, Genome Medicine.

[30]  C. Woods,et al.  A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development , 2015, Brain : a journal of neurology.

[31]  J. Lupski.  Cognitive phenotypes and genomic copy number variations. , 2015, JAMA.

[32]  K. Devriendt,et al.  MEIS2 involvement in cardiac development, cleft palate, and intellectual disability , 2015, American journal of medical genetics. Part A.

[33]  G. Kirov,et al.  Copy number variation in bipolar disorder , 2015, Molecular Psychiatry.

[34]  Magalie S Leduc,et al.  Vaccine‐associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray , 2014, Clinical and experimental immunology.

[35]  Magalie S Leduc,et al.  Molecular findings among patients referred for clinical whole-exome sequencing. , 2014, JAMA.

[36]  S. Bale,et al.  Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort , 2014, Genetics in Medicine.

[37]  Eric Boerwinkle,et al.  A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases , 2014, Cell.

[38]  Kali T. Witherspoon,et al.  Refining analyses of copy number variation identifies specific genes associated with developmental delay , 2014, Nature Genetics.

[39]  P. Stankiewicz,et al.  The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. , 2014, American journal of human genetics.

[40]  Stephan J Sanders,et al.  A framework for the interpretation of de novo mutation in human disease , 2014, Nature Genetics.

[41]  R. Pfundt,et al.  Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability , 2014, American journal of medical genetics. Part A.

[42]  H. Mefford.  CNVs in Epilepsy , 2014, Current Genetic Medicine Reports.

[43]  J. Lupski,et al.  Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome , 2013, American journal of medical genetics. Part A.

[44]  R. Pfundt,et al.  De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL‐like association and analysis of EFNB2 in patients with anorectal malformations , 2013, American journal of medical genetics. Part A.

[45]  A. V. Vulto-van Silfhout,et al.  Clinical Significance of De Novo and Inherited Copy‐Number Variation , 2013, Human mutation.

[46]  M. Marra,et al.  Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes , 2013, European Journal of Human Genetics.

[47]  P. Sieving,et al.  Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis , 2013, Molecular vision.

[48]  A. Battaglia,et al.  Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features. , 2013, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[49]  Magalie S Leduc,et al.  Clinical whole-exome sequencing for the diagnosis of mendelian disorders. , 2013, The New England journal of medicine.

[50]  Sharmila Banerjee-Basu,et al.  SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs) , 2013, Molecular Autism.

[51]  J. Rosenfeld,et al.  NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits , 2013, Genome research.

[52]  P. Lapunzina,et al.  Customized high resolution CGH‐array for clinical diagnosis reveals additional genomic imbalances in previous well‐defined pathological samples , 2013, American journal of medical genetics. Part A.

[53]  P. Stankiewicz,et al.  Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing , 2013, European Journal of Human Genetics.

[54]  P. Stankiewicz,et al.  Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles , 2013, Genome research.

[55]  S. Cheung,et al.  A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14 , 2013, American journal of medical genetics. Part A.

[56]  R. Reading,et al.  Diagnostic exome sequencing in persons with severe intellectual disability , 2013 .

[57]  Bradley P. Coe,et al.  Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. , 2013, American journal of human genetics.

[58]  Kenny Q. Ye,et al.  An integrated map of genetic variation from 1,092 human genomes , 2012, Nature.

[59]  Anna Gambin,et al.  Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders , 2012, European Journal of Human Genetics.

[60]  James P Evans,et al.  An informatics approach to analyzing the incidentalome , 2012, Genetics in Medicine.

[61]  P. Stankiewicz,et al.  Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders , 2012, European Journal of Human Genetics.

[62]  Jacob A. Tennessen,et al.  Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes , 2012, Science.

[63]  L. Gallagher,et al.  Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability , 2012, Journal of Medical Genetics.

[64]  P. Stankiewicz,et al.  Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions , 2012, European Journal of Human Genetics.

[65]  S. Aradhya,et al.  Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders , 2012, Genetics in Medicine.

[66]  Z. Stark,et al.  Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high‐resolution SNP microarrays , 2011, Human mutation.

[67]  Stephan J Sanders,et al.  Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. , 2011, Human molecular genetics.

[68]  Swaroop Aradhya,et al.  An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities , 2011, Genetics in Medicine.

[69]  Gregory M. Cooper,et al.  A Copy Number Variation Morbidity Map of Developmental Delay , 2011, Nature Genetics.

[70]  Xiaoting Zhang,et al.  Arginine and Glutamate-rich 1 (ARGLU1) Interacts with Mediator Subunit 1 (MED1) and Is Required for Estrogen Receptor-mediated Gene Transcription and Breast Cancer Cell Growth* , 2011, The Journal of Biological Chemistry.

[71]  P. Demougin,et al.  Deletion in Xp22.11: PTCHD1 is a candidate gene for X‐linked intellectual disability with or without autism , 2011, Clinical genetics.

[72]  P. Stankiewicz,et al.  Detection of clinically relevant exonic copy‐number changes by array CGH , 2010, Human mutation.

[73]  J. Lupski.  New mutations and intellectual function , 2010, Nature Genetics.

[74]  Insuk Lee,et al.  Characterising and Predicting Haploinsufficiency in the Human Genome , 2010, PLoS genetics.

[75]  Chi-Chung Hui,et al.  Disruption at the Ptchd1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability Nih Public Access , 2010 .

[76]  M. Shaw,et al.  Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. , 2010, American journal of human genetics.

[77]  Gary D Bader,et al.  Functional impact of global rare copy number variation in autism spectrum disorders , 2010, Nature.

[78]  J. Lupski,et al.  Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. , 2010, American journal of human genetics.

[79]  B. Pakkenberg,et al.  Spatiotemporal Distribution of PAX6 and MEIS2 Expression and Total Cell Numbers in the Ganglionic Eminence in the Early Developing Human Forebrain , 2010, Developmental Neuroscience.

[80]  Leslie G Biesecker,et al.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. , 2010, American journal of human genetics.

[81]  E. Zackai,et al.  Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum , 2010, American journal of medical genetics. Part A.

[82]  Y. Kong,et al.  Crucial Role for Mst1 and Mst2 Kinases in Early Embryonic Development of the Mouse , 2009, Molecular and Cellular Biology.

[83]  J. Lupski,et al.  The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans , 2009, Nature Genetics.

[84]  Lora J. H. Bean,et al.  Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications , 2009, Genetics in Medicine.

[85]  Thomas W. Mühleisen,et al.  Large recurrent microdeletions associated with schizophrenia , 2008, Nature.

[86]  P. Visscher,et al.  Rare chromosomal deletions and duplications increase risk of schizophrenia , 2008, Nature.

[87]  Kosuke M. Teshima,et al.  Natural Selection on Genes that Underlie Human Disease Susceptibility , 2008, Current Biology.

[88]  L. D. White,et al.  Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses , 2008, Genetics in Medicine.

[89]  D. Pinto,et al.  Structural variation of chromosomes in autism spectrum disorder. , 2008, American journal of human genetics.

[90]  Christa Lese Martin,et al.  Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism , 2007, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[91]  Chad A Shaw,et al.  Development and validation of a CGH microarray for clinical cytogenetic diagnosis , 2005, Genetics in Medicine.

[92]  Chad A. Cowan,et al.  Bidirectional signaling mediated by ephrin-B2 and EphB2 controls urorectal development. , 2004, Developmental biology.

[93]  L. D. White,et al.  Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders , 2004, Journal of Medical Genetics.

[94]  L. Shaffer,et al.  Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory. , 1997, American journal of medical genetics.

[95]  Ivan K. Chinn,et al.  Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders , 2017, The Journal of allergy and clinical immunology.