A Combination of Two Variants p. (Val510 =) and p. (Pro2145Thrfs * 5), Responsible for von Willebrand Disease Type 3 in a Caribbean Patient

by Marie Daniela Dubois, Serge Pierre-Louis, Johalène Rabout, Cécile V. Denis, Olivier Christophe, Sophie Susen, Jenny Goudemand, Pierre Boisseau, Rémi Neviere, Olivier Pierre-Louis
Published 2020-10-01

Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1

by Antoine Mangin, Laure de Pontual, Yu-Chih Tsai, Laetitia Monteil, Mathilde Nizon, Pierre Boisseau, Sandra Mercier, Janet Ziegle, John Harting, Cheryl Heiner, Geneviève Gourdon, Stéphanie Tomé
Published 2021-03-01