Homozygous missense mutation in theLMAN2Lgene segregates with intellectual disability in a large consanguineous Pakistani family

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

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Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?

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PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

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H 3 M 2 : detection of runs of homozygosity from whole-exome sequencing data

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Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation

(2014) Eon Joo Park et al.   Cell Metabolism

Identifying Genes Responsible for Intellectual Disability in Consanguineous Families

(2014) Zafar Iqbal et al.   HUMAN HEREDITY

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

(2014) Andy Rimmer et al.   NATURE GENETICS

SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information

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Genetic association of LMAN2L gene in schizophrenia and bipolar disorder and its interaction with ANK3 gene polymorphism

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Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders

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Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction

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Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience

(2013) FS Alkuraya   CLINICAL GENETICS

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing

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MAN1B1 Deficiency: An Unexpected CDG-II

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Subcellular localization of ERGIC-53 under endoplasmic reticulum stress condition

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Screening for congenital disorders of glycosylation in the first weeks of life

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An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez 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 Complement Control-Related Genes CSMD1 and CSMD2 Associate to Schizophrenia

(2011) Bjarte Håvik et al.   BIOLOGICAL PSYCHIATRY

Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorder

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

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

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Induction of sodium channel Nax (SCN7A) expression in rat and human hippocampus in temporal lobe epilepsy

(2010) Jan A. Gorter et al.   EPILEPSIA

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

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

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(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

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

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Intracellular Lectins Involved in Folding and Transport in the Endoplasmic Reticulum

(2009) Kazuo Yamamoto   BIOLOGICAL & PHARMACEUTICAL BULLETIN

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

(2008) Florence Molinari et al.   AMERICAN JOURNAL OF HUMAN GENETICS