Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic <i>RPGRIP1 </i>Pathologic Variant in the French Leber Congenital Amaurosis Cohort

by Isabelle Perrault, Sylvain Hanein, Xavier Gérard, Nelson Mounguengue, Ryme Bouyakoub, Mohammed Zarhrate, Cécile Fourrage, Fabienne Jabot-Hanin, Béatrice Bocquet, Isabelle Meunier, Xavier Zanlonghi, Josseline Kaplan, Jean-Michel Rozet
Published 2021-02-01

TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

by Athanasia Stoupa, Frédéric Adam, Dulanjalee Kariyawasam, Catherine Strassel, Sanjay Gawade, Gabor Szinnai, Alexandre Kauskot, Dominique Lasne, Carsten Janke, Kathiresan Natarajan, Alain Schmitt, Christine Bole‐Feysot, Patrick Nitschke, Juliane Léger, Fabienne Jabot‐Hanin, Frédéric Tores, Anita Michel, Arnold Munnich, Claude Besmond, Raphaël Scharfmann, François Lanza, Delphine Borgel, Michel Polak, Aurore Carré
Published 2018-12-01

Genome-wide association study of resistance to Mycobacterium tuberculosis infection identifies a locus at 10q26.2 in three distinct populations.

by Jocelyn Quistrebert, Marianna Orlova, Gaspard Kerner, Le Thi Ton, Nguyễn Trong Luong, Nguyễn Thanh Danh, Quentin B Vincent, Fabienne Jabot-Hanin, Yoann Seeleuthner, Jacinta Bustamante, Stéphanie Boisson-Dupuis, Nguyen Thu Huong, Nguyen Ngoc Ba, Jean-Laurent Casanova, Christophe Delacourt, Eileen G Hoal, Alexandre Alcaïs, Vu Hong Thai, Lai The Thành, Laurent Abel, Erwin Schurr, Aurélie Cobat
Published 2021-03-01