Expanding the genetic heterogeneity of intellectual disability

A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness

(2017) Ellen Knierim et al.   HUMAN GENETICS

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

(2017) Dorota Monies et al.   HUMAN GENETICS

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families

(2017) R Harripaul et al.   MOLECULAR PSYCHIATRY

γ-Protocadherins Interact with Neuroligin-1 and Negatively Regulate Dendritic Spine Morphogenesis

(2017) Michael J. Molumby et al.   Cell Reports

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

(2017) Miriam S. Reuter et al.   JAMA Psychiatry

Confirming the candidacy ofTHOC6in the etiology of intellectual disability

(2016) Shamsa Anazi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Increasing the sensitivity of clinical exome sequencing through improved filtration strategy

(2016) Hanan E. Shamseldin et al.   GENETICS IN MEDICINE

Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures

(2016) Brahim Tabarki et al.   HUMAN GENETICS

Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia

(2016) Nancy D. Merner et al.   JOURNAL OF PSYCHIATRIC RESEARCH

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

(2016) S Riazuddin et al.   MOLECULAR PSYCHIATRY

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

(2016) S Anazi et al.   MOLECULAR PSYCHIATRY

The Putative SLC Transporters Mfsd5 and Mfsd11 Are Abundantly Expressed in the Mouse Brain and Have a Potential Role in Energy Homeostasis

(2016) Emelie Perland et al.   PLoS One

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

A novelAPCmutation defines a second locus for Cenani–Lenz syndrome

(2015) Nisha Patel et al.   JOURNAL OF MEDICAL GENETICS

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

(2015) Anas M. Alazami et al.   Cell Reports

De novo assembly of bacterial transcriptomes from RNA-seq data

(2015) Brian Tjaden   GENOME BIOLOGY

SLK-dependent activation of ERMs controls LGN–NuMA localization and spindle orientation

(2014) Mickael Machicoane et al.   JOURNAL OF CELL BIOLOGY

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

DISC1 and SLC12A2 interaction affects human hippocampal function and connectivity

(2013) Joseph H. Callicott et al.   JOURNAL OF CLINICAL INVESTIGATION

Homozygous null mutation in ODZ3 causes microphthalmia in humans

(2012) Mohammed A. Aldahmesh et al.   GENETICS IN MEDICINE

Novel recessive BFSP2 and PITX3 mutations: Insights into mutational mechanisms from consanguineous populations

(2011) Mohammed A. Aldahmesh et al.   GENETICS IN MEDICINE

Insights regarding guanine nucleotide exchange from the structure of a DENN-domain protein complexed with its Rab GTPase substrate

(2011) X. Wu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

In Vivo Deletion of Immunoglobulin Domains 5 and 6 in Neurofascin (Nfasc) Reveals Domain-Specific Requirements in Myelinated Axons

(2010) C. Thaxton et al.   JOURNAL OF NEUROSCIENCE

Alterations in CDH15 and KIRREL3 in Patients with Mild to Severe Intellectual Disability

(2008) Kavita Bhalla et al.   AMERICAN JOURNAL OF HUMAN GENETICS