Ruben Attali

Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis

Ruben Attali, Nasim Warwar, Alain Israël et al. · Human Molecular Genetics · 2009 · 171 citations

Bilateral Clubfoot, Genome Instability, Developmental Biology +12

Epigenetic changes as a common trigger of muscle weakness in congenital myopathies

Ori Rokach, Marijana Sekulic‐Jablanovic, Nicol C. Voermans et al. · Human Molecular Genetics · 2015 · 55 citations · Full text

Muscle Function, Genetics, Dna Methylation +20

Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory

Linyan Meng, Ruben Attali, Tomer Talmy et al. · Genetics in Medicine · 2023 · 26 citations · Full text

Genetic Analysis, Genetic Testing, Rare Disease +13

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

Alban Ziegler, Rémi Duclaux‐Loras, Céline Revenu et al. · The American Journal of Human Genetics · 2021 · 23 citations · Full text

Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay

Sara M. Fielder, Jill A. Rosenfeld, Lindsay C. Burrage et al. · Molecular Genetics and Metabolism · 2022 · 14 citations · Full text