Analytical validation of whole exome and whole genome sequencing for clinical applications

por Linderman, Michael D, Brandt, Tracy, Edelmann, Lisa, Jabado, Omar, Kasai, Yumi, Kornreich, Ruth, Mahajan, Milind, Shah, Hardik, Kasarskis, Andrew, Schadt, Eric E
Publicado 2014

A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region

por McInnes, L Alison, Nakamine, Alisa, Pilorge, Marion, Brandt, Tracy, Jiménez González, Patricia, Fallas, Marietha, Manghi, Elina R, Edelmann, Lisa, Glessner, Joseph, Hakonarson, Hakon, Betancur, Catalina, Buxbaum, Joseph D
Publicado 2010

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

por Singh, Sakshi, Gupta, Aditi, Zech, Michael, Sigafoos, Ashley N., Clark, Karl J., Dincer, Yasemin, Wagner, Matias, Humberson, Jennifer B., Green, Sarah, van Gassen, Koen, Brandt, Tracy, Schnur, Rhonda E., Millan, Francisca, Si, Yue, Mall, Volker, Winkelmann, Juliane, Gavrilova, Ralitza H., Klee, Eric W., Engleman, Kendra, Safina, Nicole P., Slaugh, Rachel, Bryant, Emily M., Tan, Wen-Hann, Granadillo, Jorge, Misra, Sunita N., Schaefer, G. Bradley, Towner, Shelley, Brilstra, Eva H., Koeleman, Bobby P. C.
Publicado 2020

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

por Palmer, Elizabeth E., Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew H., Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan S., Chedrawi, Aziza, Hashem, Mais O., Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance S., Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias B., Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda J., Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Abi Warde, Marie-Thérèse, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer M., Sands, Tristan T., Wilson, Golder N., Silvertooth, Erin J., Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein H., Ockeloen, Charlotte W., Pfundt, Rolph, Kroft, Sanne D., Field, Michael, Laranjeira, Francisco E. R., Fortuna, Ana M., Soares, Ana R., Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David D., Bird, Lynne M., Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe M., Blazo, Maria, Bijlsma, Emilia K., Rosenfeld, Jill A., Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb S., Armstrong, Ruth, Kalscheuer, Vera M.
Publicado 2022