Independent variant analysis of TEAD1 and OCEL1 in 38 Aicardi syndrome patients

por Wong, Bibiana K. Y., Sutton, Vernon R., Lewis, Richard A., Van den Veyver, Ignatia B.
Publicado 2017

SUN-205 A Case of 46XY Mixed Gonadal Dysgenesis Presenting with Unilateral Gonad and Hemiuterus: Family History Dictates Sex Assignment

por Al-Gadi, Iman, Merchant, Nadia, Relan, Shilpi, Sutton, Vernon R, Tu, Duong, Paul, David, Karaviti, Lefkothea
Publicado 2019

19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias

por Gana, Simone, Veggiotti, Pierangelo, Sciacca, Giusy, Fedeli, Cristina, Bersano, Anna, Micieli, Giuseppe, Maghnie, Mohamad, Ciccone, Roberto, Rossi, Elena, Plunkett, Katie, Bi, Weimin, Sutton, Vernon R, Zuffardi, Orsetta
Publicado 2012

Assessing sex assignment concordance with genotype and phenotype

por Suresh, Deepa, Crawford, Jessica, Axelrad, Marni E, Gunn, Sheila K, McCullough, Laurence, Smith, O’ Brian, Sutton, Vernon R, Roth, David, Karaviti, Lefkothea P, Dietrich, Jennifer E
Publicado 2013

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

por Nellåker, Christoffer, Alkuraya, Fowzan S., Baynam, Gareth, Bernier, Raphael A., Bernier, Francois P.J., Boulanger, Vanessa, Brudno, Michael, Brunner, Han G., Clayton-Smith, Jill, Cogné, Benjamin, Dawkins, Hugh J.S., deVries, Bert B.A., Douzgou, Sofia, Dudding-Byth, Tracy, Eichler, Evan E., Ferlaino, Michael, Fieggen, Karen, Firth, Helen V., FitzPatrick, David R., Gration, Dylan, Groza, Tudor, Haendel, Melissa, Hallowell, Nina, Hamosh, Ada, Hehir-Kwa, Jayne, Hitz, Marc-Phillip, Hughes, Mark, Kini, Usha, Kleefstra, Tjitske, Kooy, R Frank, Krawitz, Peter, Küry, Sébastien, Lees, Melissa, Lyon, Gholson J., Lyonnet, Stanislas, Marcadier, Julien L., Meyn, Stephen, Moslerová, Veronika, Politei, Juan M., Poulton, Cathryn C., Raymond, F Lucy, Reijnders, Margot R.F., Robinson, Peter N., Romano, Corrado, Rose, Catherine M., Sainsbury, David C.G., Schofield, Lyn, Sutton, Vernon R., Turnovec, Marek, Van Dijck, Anke, Van Esch, Hilde, Wilkie, Andrew O.M.
Publicado 2019