Ruben Attali

Affiliations
  • Genomic Research Department, Emedgene Technologies, 67443 Tel Aviv, Israel.

Publications (2)

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

American journal of human genetics
Avec: Alban Ziegler , Rémi Duclaux-Loras , Céline Revenu , Fabienne Charbit-Henrion , Bernadette Begue , Karine Duroure , Linda Grimaud , Anne Laure Guihot , Valérie Desquiret-Dumas , Mohammed Zarhrate , Nicolas Cagnard , Emmanuel Mas , Anne Breton , Thomas Edouard , Clarisse Billon , Michael Frank , Estelle Colin , Guy Lenaers , Daniel Henrion , Stanislas Lyonnet , Laurence Faivre , Yves Alembik , Anaïs Philippe , Bruno Moulin , Eyal Reinstein , Shay Tzur , George McGillivray , Susan M White , Lyndon Gallacher , Kerstin Kutsche , Pauline Schneeberger , Katta M Girisha , Shalini S Nayak , Lynn Pais , Reza Maroofian , Aboulfazl Rad , Barbara Vona , Ehsan Ghayoor Karimiani , Caroline Lekszas , Thomas Haaf , Ludovic Martin , Frank Ruemmele , Dominique Bonneau , Nadine Cerf-Bensussan , Filippo Del Bene , Marianna Parlato

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

Molecular genetics and metabolism
Avec: Sara M Fielder , Jill A Rosenfeld , Lindsay C Burrage , Lisa Emrick , Seema Lalani , Joshua N Bembenek , Hieu Hoang , Dustin Baldridge , Gary A Silverman , Auteur inconnu , Tim Schedl , Stephen C Pak

Réseau de co-auteurs

Alban Ziegler 1 collaboration
Rémi Duclaux-Loras 1 collaboration
Céline Revenu 1 collaboration
Fabienne Charbit-Henrion 1 collaboration
Bernadette Begue 1 collaboration
Karine Duroure 1 collaboration
Linda Grimaud 1 collaboration
Anne Laure Guihot 1 collaboration
Valérie Desquiret-Dumas 1 collaboration
Mohammed Zarhrate 1 collaboration
Nicolas Cagnard 1 collaboration
Emmanuel Mas 1 collaboration
Anne Breton 1 collaboration
Thomas Edouard 1 collaboration
Clarisse Billon 1 collaboration
Michael Frank 1 collaboration
Estelle Colin 1 collaboration
Guy Lenaers 1 collaboration
Daniel Henrion 1 collaboration
Stanislas Lyonnet 1 collaboration
Laurence Faivre 1 collaboration
Yves Alembik 1 collaboration
Anaïs Philippe 1 collaboration
Bruno Moulin 1 collaboration
Eyal Reinstein 1 collaboration
Shay Tzur 1 collaboration
George McGillivray 1 collaboration
Susan M White 1 collaboration
Lyndon Gallacher 1 collaboration
Kerstin Kutsche 1 collaboration
Pauline Schneeberger 1 collaboration
Katta M Girisha 1 collaboration
Shalini S Nayak 1 collaboration
Lynn Pais 1 collaboration
Reza Maroofian 1 collaboration
Aboulfazl Rad 1 collaboration
Barbara Vona 1 collaboration
Ehsan Ghayoor Karimiani 1 collaboration
Caroline Lekszas 1 collaboration
Thomas Haaf 1 collaboration
Ludovic Martin 1 collaboration
Frank Ruemmele 1 collaboration
Dominique Bonneau 1 collaboration
Nadine Cerf-Bensussan 1 collaboration
Filippo Del Bene 1 collaboration
Marianna Parlato 1 collaboration
Sara M Fielder 1 collaboration
Jill A Rosenfeld 1 collaboration
Lindsay C Burrage 1 collaboration
Lisa Emrick 1 collaboration
Seema Lalani 1 collaboration
Joshua N Bembenek 1 collaboration
Hieu Hoang 1 collaboration
Dustin Baldridge 1 collaboration
Gary A Silverman 1 collaboration
None None 1 collaboration
Tim Schedl 1 collaboration
Stephen C Pak 1 collaboration