Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

(2015) Lot Snijders Blok et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Next-generation sequencing in X-linked intellectual disability

(2015) Andreas Tzschach et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features

(2015) Nathalie Fieremans et al.   European Journal of Medical Genetics

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

(2015) Daniela Rusconi et al.   HUMAN GENETICS

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

(2015) Detelina Grozeva et al.   HUMAN MUTATION

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

(2015) H Hu et al.   MOLECULAR PSYCHIATRY

Identification of a NovelNHSMutation in a Chinese Family with Nance-Horan Syndrome

(2014) Aijun Li et al.   CURRENT EYE RESEARCH

De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation

(2014) Nathalie Fieremans et al.   HUMAN GENETICS

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

(2014) Frank J. Kaiser et al.   HUMAN MOLECULAR GENETICS

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

(2014) Claire Redin et al.   JOURNAL OF MEDICAL GENETICS

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

De Novo Mutations in Moderate or Severe Intellectual Disability

(2014) Fadi F. Hamdan et al.   PLoS Genetics

Core promoter factor TAF9B regulates neuronal gene expression

(2014) Francisco J Herrera et al.   eLife

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

MLL2 and KDM6A mutations in patients with Kabuki syndrome

(2013) Noriko Miyake et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cornelia de Lange individuals with new and recurrentSMC1Amutations enhance delineation of mutation repertoire and phenotypic spectrum

(2013) Cristina Gervasini et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

X-linked thrombocytopenia in a female with a complex familial pattern of X-chromosome inactivation

(2013) V. Daza-Cajigal et al.   BLOOD CELLS MOLECULES AND DISEASES

Combined De-Novo Mutation and Non-Random X-Chromosome Inactivation Causing Wiskott-Aldrich Syndrome in a Female with Thrombocytopenia

(2013) Boonchai Boonyawat et al.   JOURNAL OF CLINICAL IMMUNOLOGY

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

(2013) Hirotomo Saitsu et al.   NATURE GENETICS

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

(2013) James R Lupski et al.   Genome Medicine

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

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

Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

(2012) Guy Froyen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

(2012) Tobias B. Haack et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation

(2012) Raul E. Piña-Aguilar et al.   European 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

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

(2012) Matthew A. Deardorff et al.   NATURE

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

(2012) Jonàs Juan-Mateu et al.   Orphanet Journal of Rare Diseases

Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation

(2011) MG Bouwman et al.   CLINICAL GENETICS

Three New Loci for Determining X Chromosome Inactivation Patterns

(2011) Birgitte Bertelsen et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

The Demoiselle of X-Inactivation: 50 Years Old and As Trendy and Mesmerising As Ever

(2011) Céline Morey et al.   PLoS Genetics

RNF12 Activates Xist and Is Essential for X Chromosome Inactivation

(2011) Tahsin Stefan Barakat et al.   PLoS Genetics

Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A

(2010) Giuseppe Limongelli 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

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X-linked disorders

(2010) A Kloska et al.   CLINICAL GENETICS

X-changing information on X inactivation

(2010) Tahsin Stefan Barakat et al.   EXPERIMENTAL CELL RESEARCH

A de novo paradigm for mental retardation

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression

(2008) Suzanna Gerarda Maria Frints et al.   EUROPEAN JOURNAL OF HUMAN GENETICS