A method to reduce ancestry related germline false positives in tumor only somatic variant calling

por Halperin, Rebecca F., Carpten, John D., Manojlovic, Zarko, Aldrich, Jessica, Keats, Jonathan, Byron, Sara, Liang, Winnie S., Russell, Megan, Enriquez, Daniel, Claasen, Ana, Cherni, Irene, Awuah, Baffour, Oppong, Joseph, Wicha, Max S., Newman, Lisa A., Jaigge, Evelyn, Kim, Seungchan, Craig, David W.
Publicado 2017

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia

por Moskowitz, Abby M., Belnap, Newell, Siniard, Ashley L., Szelinger, Szabolcs, Claasen, Ana M., Richholt, Ryan F., De Both, Matt, Corneveaux, Jason J., Balak, Chris, Piras, Ignazio S., Russell, Megan, Courtright, Amanda L., Rangasamy, Sampath, Ramsey, Keri, Craig, David W., Narayanan, Vinodh, Huentelman, Matt J., Schrauwen, Isabelle
Publicado 2016

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disabilit...

por Banuelos, Erika, Ramsey, Keri, Belnap, Newell, Krishnan, Malavika, Balak, Chris, Szelinger, Szabolcs, Siniard, Ashley L., Russell, Megan, Richholt, Ryan, De Both, Matt, Piras, Ignazio, Naymik, Marcus, Claasen, Ana M., Rangasamy, Sampathkumar, Huentelman, Matthew J., Craig, David W., Campeau, Philippe M., Narayanan, Vinodh, Schrauwen, Isabelle
Publicado 2017

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

por Szelinger, Szabolcs, Krate, Jonida, Ramsey, Keri, Strom, Samuel P., Shieh, Perry B., Lee, Hane, Belnap, Newell, Balak, Chris, Siniard, Ashley L., Russell, Megan, Richholt, Ryan, Both, Matt De, Claasen, Ana M., Schrauwen, Isabelle, Nelson, Stanley F., Huentelman, Matthew J., Craig, David W., Yang, Samuel P., Moore, Steven A., Sivakumar, Kumaraswamy, Narayanan, Vinodh, Rangasamy, Sampathkumar
Publicado 2020

The Pharmacogenomics of Bipolar Disorder study (PGBD): identification of genes for lithium response in a prospective sample

por Oedegaard, Ketil J., Alda, Martin, Anand, Anit, Andreassen, Ole A., Balaraman, Yokesh, Berrettini, Wade H., Bhattacharjee, Abesh, Brennand, Kristen J., Burdick, Katherine E., Calabrese, Joseph R., Calkin, Cynthia V., Claasen, Ana, Coryell, William H., Craig, David, DeModena, Anna, Frye, Mark, Gage, Fred H., Gao, Keming, Garnham, Julie, Gershon, Elliot, Jakobsen, Petter, Leckband, Susan G., McCarthy, Michael J., McInnis, Melvin G., Maihofer, Adam X., Mertens, Jerome, Morken, Gunnar, Nievergelt, Caroline M., Nurnberger, John, Pham, Son, Schoeyen, Helle, Shekhtman, Tatyana, Shilling, Paul D., Szelinger, Szabolcs, Tarwater, Bruce, Yao, Jun, Zandi, Peter P., Kelsoe, John R.
Publicado 2016