CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability

Leveraging Rules of Nonsense-Mediated mRNA Decay for Genome Engineering and Personalized Medicine

(2016) Maximilian W. Popp et al.   CELL

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

(2016) Nathalie Fieremans et al.   HUMAN MUTATION

Next-generation sequencing in X-linked intellectual disability

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

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

(2015) H Hu et al.   MOLECULAR PSYCHIATRY

Genetic studies in intellectual disability and related disorders

(2015) Lisenka E. L. M. Vissers et al.   NATURE REVIEWS GENETICS

UBE2A deficiency syndrome: A report of two unrelated cases with large Xq24 deletions encompassingUBE2Agene

(2014) Sofia Thunstrom et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Nonsense-mediated mRNA decay — Mechanisms of substrate mRNA recognition and degradation in mammalian cells

(2013) Christoph Schweingruber et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Making headway with genetic diagnostics of intellectual disabilities

(2013) M.H. Willemsen et al.   CLINICAL GENETICS

A novel link of HLA locus to the regulation of immunity and infection: NFKBIL1 regulates alternative splicing of human immune-related genes and influenza virus M gene

(2013) Jianbo An et al.   JOURNAL OF AUTOIMMUNITY

Genetics of recessive cognitive disorders

(2013) Luciana Musante et al.   TRENDS IN GENETICS

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

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

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

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Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation

(2011) Liesbeth Rooms et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Semiquantitative Proteomic Analysis of the Human Spliceosome via a Novel Two-Dimensional Gel Electrophoresis Method

(2011) D. E. Agafonov et al.   MOLECULAR AND CELLULAR BIOLOGY

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability

(2010) Annabel C. Whibley et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetics of Early Onset Cognitive Impairment

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

Phenotypic annotation of the mouse X chromosome

(2010) B. J. Cox et al.   GENOME RESEARCH

Novel genomic techniques open new avenues in the analysis of monogenic disorders

(2010) Gregor Kuhlenbäumer et al.   HUMAN MUTATION

The genetic basis of non-syndromic intellectual disability: a review

(2010) Liana Kaufman et al.   Journal of Neurodevelopmental Disorders

A de novo paradigm for mental retardation

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

Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy

(2009) Annemieke J.M.H. Verkerk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

(2009) L. E. L. M. Vissers et al.   JOURNAL OF MEDICAL GENETICS

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

(2009) Patrick S Tarpey et al.   NATURE GENETICS

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE

The genetic landscape of intellectual disability arising from chromosome X

(2009) Jozef Gécz et al.   TRENDS IN GENETICS

Neuronal Polarity

(2009) S. Tahirovic et al.   Cold Spring Harbor Perspectives in Biology

Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice

(2008) Femke M.S. de Vrij et al.   NEUROBIOLOGY OF DISEASE