Exome Sequencing Identifies Three Novel Candidate Genes Implicated in Intellectual Disability

Identifying Genes Responsible for Intellectual Disability in Consanguineous Families

(2014) Zafar Iqbal et al.   HUMAN HEREDITY

MLL2mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study

(2013) P Makrythanasis et al.   CLINICAL GENETICS

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

(2013) Krishna R. Veeramah et al.   EPILEPSIA

A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet–Biedl syndrome in a Pakistani family

(2013) Zehra Agha et al.   GENE

Histone-Methyltransferase MLL2 (KMT2B) Is Required for Memory Formation in Mice

(2013) C. Kerimoglu et al.   JOURNAL OF NEUROSCIENCE

The Drosophila Ortholog of MLL3 and MLL4 , trithorax related , Functions as a Negative Regulator of Tissue Growth

(2013) Hiroshi Kanda et al.   MOLECULAR AND CELLULAR BIOLOGY

Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

(2012) Tjitske Kleefstra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel de novo missense mutation inTP63underlying germline mosaicism in AEC syndrome: Implications for recurrence risk and prenatal diagnosis

(2012) Vanessa Barbaro et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2012) Anita Rauch et al.   LANCET

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

(2012) Erik G. Puffenberger et al.   PLoS One

Mutations in Hedgehog Acyltransferase (Hhat) Perturb Hedgehog Signaling, Resulting in Severe Acrania-Holoprosencephaly-Agnathia Craniofacial Defects

(2012) Jennifer F. Dennis et al.   PLoS Genetics

Adults with Sotos syndrome: Review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person

(2011) Matthew R. Fickie et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic and Epigenetic Networks in Intellectual Disabilities

(2011) Hans van Bokhoven   Annual Review of Genetics

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Genetics of Early Onset Cognitive Impairment

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

The relationship between sonic Hedgehog signaling, cilia, and neural tube defects

(2010) Jennifer N. Murdoch et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

Disruption of the epigenetic code: An emerging mechanism in mental retardation

(2010) Hans van Bokhoven et al.   NEUROBIOLOGY OF DISEASE

ASCOM Controls Farnesoid X Receptor Transactivation through Its Associated Histone H3 Lysine 4 Methyltransferase Activity

(2009) Dae-Hwan Kim et al.   MOLECULAR ENDOCRINOLOGY

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

The genetic landscape of intellectual disability arising from chromosome X

(2009) Jozef Gécz et al.   TRENDS IN GENETICS

SysZNF: the C2H2 zinc finger gene database

(2008) G. Ding et al.   NUCLEIC ACIDS RESEARCH