Dominant de novo mutations in GJA1 cause erythrokeratodermia variabilis et progressiva, without features of oculodentodigital dysplasia

by Boyden, Lynn M., Craiglow, Brittany G., Zhou, Jing, Hu, Ronghua, Loring, Erin C., Morel, Kimberly D., Lauren, Christine T., Lifton, Richard P., Bilguvar, Kaya, Paller, Amy S., Choate, Keith A.
Published 2014

Somatic HRAS p.G12S Mutation Causes Woolly Hair and Epidermal Nevi

by Levinsohn, Jonathan L., Teng, Joyce, Craiglow, Brittany G., Loring, Erin C., Burrow, T. Andrew, Mane, Shrikant S., Overton, John D., Lifton, Richard P., McNiff, Jennifer M., Lucky, Anne W., Choate, Keith A.
Published 2013

Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation

by Romberg, Neil, Al Moussawi, Khatoun, Nelson-Williams, Carol, Stiegler, Amy L, Loring, Erin, Choi, Murim, Overton, John, Meffre, Eric, Khokha, Mustafa K, Huttner, Anita J, West, Brian, Podoltsev, Nikolai A, Boggon, Titus J, Kazmierczak, Barbara I, Lifton, Richard P
Published 2014

Whole exome sequencing reveals somatic mutations in HRAS and KRAS which cause nevus sebaceus

by Levinsohn, Jonathan L., Tian, Li C., Boyden, Lynn M., McNiff, Jennifer M., Narayan, Deepak, Loring, Erin S., Yun, Duri, Sugarman, Jeffrey L., Overton, John D., Mane, Shrikant M., Lifton, Richard P., Paller, Amy S., Wagner, Annette M., Antaya, Richard J., Choate, Keith A.
Published 2012

Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism

by Scholl, Ute I, Stölting, Gabriel, Nelson-Williams, Carol, Vichot, Alfred A, Choi, Murim, Loring, Erin, Prasad, Manju L, Goh, Gerald, Carling, Tobias, Juhlin, C Christofer, Quack, Ivo, Rump, Lars C, Thiel, Anne, Lande, Marc, Frazier, Britney G, Rasoulpour, Majid, Bowlin, David L, Sethna, Christine B, Trachtman, Howard, Fahlke, Christoph, Lifton, Richard P
Published 2015

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

by Timberlake, Andrew T, Choi, Jungmin, Zaidi, Samir, Lu, Qiongshi, Nelson-Williams, Carol, Brooks, Eric D, Bilguvar, Kaya, Tikhonova, Irina, Mane, Shrikant, Yang, Jenny F, Sawh-Martinez, Rajendra, Persing, Sarah, Zellner, Elizabeth G, Loring, Erin, Chuang, Carolyn, Galm, Amy, Hashim, Peter W, Steinbacher, Derek M, DiLuna, Michael L, Duncan, Charles C, Pelphrey, Kevin A, Zhao, Hongyu, Persing, John A, Lifton, Richard P
Published 2016

Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism

by Scholl, Ute I., Goh, Gerald, Stölting, Gabriel, de Oliveira, Regina Campos, Choi, Murim, Overton, John D., Fonseca, Annabelle L., Korah, Reju, Starker, Lee F., Kunstman, John W., Prasad, Manju L., Hartung, Erum A., Mauras, Nelly, Benson, Matthew R., Brady, Tammy, Shapiro, Jay R., Loring, Erin, Nelson-Williams, Carol, Libutti, Steven K., Mane, Shrikant, Hellman, Per, Westin, Gunnar, Åkerström, Göran, Björklund, Peyman, Carling, Tobias, Fahlke, Christoph, Hidalgo, Patricia, Lifton, Richard P.
Published 2013