Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders

por Mitra, Ileena, Lavillaureix, Alinoë, Yeh, Erika, Traglia, Michela, Tsang, Kathryn, Bearden, Carrie E., Rauen, Katherine A., Weiss, Lauren A.
Publicado 2017

Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing

por Cospain, Auriane, Dubourg, Christèle, Gastineau, Swellen, Pichard, Samia, Gandemer, Virginie, Bonneau, Jacinthe, de Tayrac, Marie, Moreau, Caroline, Odent, Sylvie, Pasquier, Laurent, Damaj, Lena, Lavillaureix, Alinoë
Publicado 2020

Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D

por Molin, Arnaud, Lemoine, Sandrine, Kaufmann, Martin, Breton, Pierre, Nowoczyn, Marie, Ballandonne, Céline, Coudray, Nadia, Mittre, Hervé, Richard, Nicolas, Ryckwaert, Amélie, Lavillaureix, Alinoe, Jones, Glenville, Bacchetta, Justine, Kottler, Marie-Laure
Publicado 2021

Pleiotropic Mechanisms Indicated for Sex Differences in Autism

por Mitra, Ileena, Tsang, Kathryn, Ladd-Acosta, Christine, Croen, Lisa A., Aldinger, Kimberly A., Hendren, Robert L., Traglia, Michela, Lavillaureix, Alinoë, Zaitlen, Noah, Oldham, Michael C., Levitt, Pat, Nelson, Stanley, Amaral, David G., Herz-Picciotto, Irva, Fallin, M. Daniele, Weiss, Lauren A.
Publicado 2016

Correction: Pleiotropic Mechanisms Indicated for Sex Differences in Autism

por Mitra, Ileena, Tsang, Kathryn, Ladd-Acosta, Christine, Croen, Lisa A., Aldinger, Kimberly A., Hendren, Robert L., Traglia, Michela, Lavillaureix, Alinoë, Zaitlen, Noah, Oldham, Michael C., Levitt, Pat, Nelson, Stanley, Amaral, David G., Hertz-Picciotto, Irva, Fallin, M. Daniele, Weiss, Lauren A.
Publicado 2017

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

por Tran Mau-Them, Frédéric, Delanne, Julian, Denommé-Pichon, Anne-Sophie, Safraou, Hana, Bruel, Ange-Line, Vitobello, Antonio, Garde, Aurore, Nambot, Sophie, Bourgon, Nicolas, Racine, Caroline, Sorlin, Arthur, Moutton, Sébastien, Marle, Nathalie, Rousseau, Thierry, Sagot, Paul, Simon, Emmanuel, Vincent-Delorme, Catherine, Boute, Odile, Colson, Cindy, Petit, Florence, Legendre, Marine, Naudion, Sophie, Rooryck, Caroline, Prouteau, Clément, Colin, Estelle, Guichet, Agnès, Ziegler, Alban, Bonneau, Dominique, Morel, Godelieve, Fradin, Mélanie, Lavillaureix, Alinoé, Quelin, Chloé, Pasquier, Laurent, Odent, Sylvie, Vera, Gabriella, Goldenberg, Alice, Guerrot, Anne-Marie, Brehin, Anne-Claire, Putoux, Audrey, Attia, Jocelyne, Abel, Carine, Blanchet, Patricia, Wells, Constance F., Deiller, Caroline, Nizon, Mathilde, Mercier, Sandra, Vincent, Marie, Isidor, Bertrand, Amiel, Jeanne, Dard, Rodolphe, Godin, Manon, Gruchy, Nicolas, Jeanne, Médéric, Schaeffer, Elise, Maillard, Pierre-Yves, Payet, Frédérique, Jacquemont, Marie-Line, Francannet, Christine, Sigaudy, Sabine, Bergot, Marine, Tisserant, Emilie, Ascencio, Marie-Laure, Binquet, Christine, Duffourd, Yannis, Philippe, Christophe, Faivre, Laurence, Thauvin-Robinet, Christel
Publicado 2023