Deep sequencing reveals 50 novel genes for recessive cognitive disorders

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

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

(2011) Rami Abou Jamra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

(2011) Muhammad Arshad Rafiq et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The novel BTB/POZ and zinc finger factor Zbtb45 is essential for proper glial differentiation of neural and oligodendrocyte progenitor cells 

(2011) Erik Södersten et al.   CELL CYCLE

A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures

(2011) Yeşerin Yıldırım et al.   HUMAN MOLECULAR GENETICS

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

(2011) Audrey Putoux et al.   NATURE GENETICS

Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans

(2011) C. Pak et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetics of Early Onset Cognitive Impairment

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

SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

(2010) Vincent Cantagrel et al.   CELL

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

(2010) Kimia Kahrizi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A genetic screen identifies the Triple T complex required for DNA damage signaling and ATM and ATR stability

(2010) K. E. Hurov et al.   GENES & DEVELOPMENT

Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots

(2010) Andreas Walter Kuss et al.   HUMAN GENETICS

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

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

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

A de novo paradigm for mental retardation

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

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism

(2009) Robert Steinfeld et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

(2009) Asif Mir et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

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

(2009) Patrick S Tarpey et al.   NATURE GENETICS

Mutations inSYNGAP1in Autosomal Nonsyndromic Mental Retardation

(2009) Fadi F. Hamdan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Role of voltage-gated calcium channels in epilepsy

(2009) Gerald W. Zamponi et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation

(2008) Masoud Garshasbi et al.   AMERICAN JOURNAL OF HUMAN GENETICS