Recessive truncating titin gene, <i>TTN</i> , mutations presenting as centronuclear myopathy

Ozge Ceyhan‐Birsoy, Pankaj B. Agrawal, Carlos Hidalgo, +15

Neurology

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

Ricardo Harripaul, Nasim Vasli, Muhammad Rafiq, +28

Molecular Psychiatry

Mendelian DisorderNovel Candidate GenesGenetic DisorderGeneticsConsanguineous Families +4

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

Taimoor I. Sheikh, Nasim Vasli, Stephen F. Pastore, +19

Translational Psychiatry

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

Johann Böhm, Valérie Biancalana, Edoardo Malfatti, +21

Brain

Mitochondrial MyopathyChromatinDevelopmental AnomalyMendelian DisorderGenetic Disorder +11

Next generation sequencing for molecular diagnosis of neuromuscular diseases

Nasim Vasli, Johann Böhm, Stéphanie Le Gras, +14

Acta Neuropathologica

VaRank: a simple and powerful tool for ranking genetic variants

Véronique Geoffroy, Cécile Pizot, Claire Redin, +6

PeerJ

Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability

Rosalind Law, Tracy Dixon‐Salazar, Julie Jerber, +20

The American Journal of Human Genetics

Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy

Johann Böhm, Nasim Vasli, Marie Maurer, +9

PLoS Genetics

Muscle FunctionGeneticsPathologyCytoskeletonMolecular Genetics +18

An Integrated Diagnosis Strategy for Congenital Myopathies

Johann Böhm, Nasim Vasli, Edoardo Malfatti, +16

PLoS ONE

Exome SequencingGeneticsDiagnosisPathologyDisease Gene Identification +20

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment

Iltaf Ahmed, Rebecca Buchert, Mi Zhou, +20

Human Molecular Genetics