Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

(2014) Anneke T. Vulto-van Silfhout et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel homozygousDEAF1variant suspected in causing white matter disease, intellectual disability, and microcephaly

(2014) Eissa A. Faqeih et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Analysis ofELP4,SRPX2, and interacting genes in typical and atypical rolandic epilepsy

(2014) Eva M. Reinthaler et al.   EPILEPSIA

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

(2013) Hung-Chun Yu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

(2013) Amélie Piton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Tubacin prevents neuronal migration defects and epileptic activity caused by rat Srpx2 silencing in utero

(2013) Manal Salmi et al.   BRAIN

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

(2013) Amélie Piton et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy

(2013) Arjan PM de Brouwer et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

(2013) Reza Asadollahi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

(2013) Frederic Tran Mau-Them et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

(2013) Gaetan Lesca et al.   NATURE GENETICS

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Lack of Association between NLGN3, NLGN4, SHANK2 and SHANK3 Gene Variants and Autism Spectrum Disorder in a Chinese Population

(2013) Yanyan Liu et al.   PLoS One

The Human Language-Associated Gene SRPX2 Regulates Synapse Formation and Vocalization in Mice

(2013) G. M. Sia et al.   SCIENCE

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

(2012) Herbert A. Lubs et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

(2012) Lingli Huang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Parent-child exome sequencing identifiesade novotruncating mutation inTCF4in non-syndromic intellectual disability

(2012) F F Hamdan et al.   CLINICAL GENETICS

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals

(2012) Amélie Piton et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

(2012) Claire Redin et al.   JOURNAL OF MEDICAL GENETICS

TheDYRK1Agene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

(2012) Jean-Benoît Courcet et al.   JOURNAL OF MEDICAL GENETICS

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

(2012) Cornelis A Albers et al.   NATURE GENETICS

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

(2012) Claire S. Leblond et al.   PLoS Genetics

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

(2012) C Nava et al.   Translational Psychiatry

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

(2011) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly

(2011) BWM van Bon et al.   CLINICAL GENETICS

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

(2011) C. P. Schaaf et al.   HUMAN MOLECULAR GENETICS

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families

(2011) Zippora Brownstein et al.   GENOME BIOLOGY

Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature

(2010) Anne Behnecke et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6

(2010) Toshiyuki Yamamoto et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetics of Early Onset Cognitive Impairment

(2010) Hans Hilger Ropers   Annual Review of Genomics and Human Genetics

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

(2010) W. G. Leen et al.   BRAIN

A study of possible heterogeneity in Duchenne muscular dystrophy

(2010) Alan E. H. Emery et al.   CLINICAL GENETICS

DELETION STATUS AND INTELLECTUAL IMPAIRMENT IN DUCHENNE MUSCULAR DYSTROPHY

(2010) K. M. D. Bushby et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa

(2010) D. A. Simpson et al.   JOURNAL OF MEDICAL GENETICS

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

(2010) Cheryl Shoubridge et al.   NATURE GENETICS

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Dystrophin Gene Mutation Location and the Risk of Cognitive Impairment in Duchenne Muscular Dystrophy

(2010) Peter J. Taylor et al.   PLoS One

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression

(2009) F. Daoud et al.   HUMAN MOLECULAR GENETICS

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly

(2008) Rikke S. Møller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

No evidence for involvement of genetic variants in the X-linked neuroligin genesNLGN3andNLGN4Xin probands with autism spectrum disorder on high functioning level

(2008) Anne-Kathrin Wermter et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Mutations in the chromatin-associated protein ATRX

(2008) Richard J. Gibbons et al.   HUMAN MUTATION

Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities

(2007) Bradley L. Griggs et al.   GENOMICS