Recent advances in understanding ichthyosis pathogenesis

by Marukian, Nareh V., Choate, Keith A.
Published 2016

Somatic V600E BRAF mutation in linear and sporadic syringocystadenoma papilliferum

by Levinsohn, Jonathan L., Sugarman, Jeffrey L., Bilguvar, Kaya, McNiff, Jennifer M., Choate, Keith A.
Published 2015

An Incompletely Penetrant Novel Mutation in COL7A1 Causes Epidermolysis Bullosa Pruriginosa and Dominant Dystrophic Epidermolysis Bullosa Phenotypes in an Extended Kindred

by Yang, Catherine S, Lu, Yin, Farhi, Anita, Nelson-Williams, Carol, Kashgarian, Michael, Glusac, Earl J, Lifton, Richard P, Antaya, Richard J, Choate, Keith A
Published 2012

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 Activating RAS Mutations Cause Vascular Tumors Including Pyogenic Granuloma

by Lim, Young H., Douglas, Stephanie R., Ko, Christine J., Antaya, Richard J., McNiff, Jennifer M., Zhou, Jing, Choate, Keith A., Narayan, Deepak
Published 2015

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

Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia

by Salas-Alanis, Julio C, Wozniak, Eva, Mein, Charles A, Duran Mckinster, Carola C, Ocampo-Candiani, Jorge, Kelsell, David P, Hua, Rong, Garza-Rodriguez, Maria L, Choate, Keith A, Barrera Saldaña, Hugo A
Published 2015

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

Mutations in Kelch-like 3 and Cullin 3 cause hypertension and electrolyte abnormalities

by Boyden, Lynn M., Choi, Murim, Choate, Keith A., Nelson-Williams, Carol J., Farhi, Anita, Toka, Hakan R., Tikhonova, Irina R., Bjornson, Robert, Mane, Shrikant M., Colussi, Giacomo, Lebel, Marcel, Gordon, Richard D., Semmekrot, Ben A., Poujol, Alain, Välimäki, Matti J., De Ferrari, Maria E., Sanjad, Sami A., Gutkin, Michael, Karet, Fiona E., Tucci, Joseph R., Stockigt, Jim R., Keppler-Noreuil, Kim M., Porter, Craig C., Anand, Sudhir K., Whiteford, Margo L., Davis, Ira D., Dewar, Stephanie B., Bettinelli, Alberto, Fadrowski, Jeffrey J., Belsha, Craig W., Hunley, Tracy E., Nelson, Raoul D., Trachtman, Howard, Cole, Trevor R. P., Pinsk, Maury, Bockenhauer, Detlef, Shenoy, Mohan, Vaidyanathan, Priya, Foreman, John W., Rasoulpour, Majid, Thameem, Farook, Al-Shahrouri, Hania Z., Radhakrishnan, Jai, Gharavi, Ali G., Goilav, Beatrice, Lifton, Richard P.
Published 2012