NR2F1 Deletion in a Patient with a de novo Paracentric Inversion, inv(5)(q15q33.2), and Syndromic Deafness

Autor Brown, Kerry K., Alkuraya, Fowzan S., Matos, Michael, Robertson, Richard L., Kimonis, Virginia E., Morton, Cynthia C.
Vydáno 2009

Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35)

Autor Brown, Kerry K., Reiss, Jacob A., Crow, Kate, Ferguson, Heather L., Kelly, Chantal, Fritzsch, Bernd, Morton, Cynthia C.
Vydáno 2010

X-linked Deafness-2 (DFNX2) Phenotype Associated with a Paracentric Inversion Upstream of POU3F4

Autor Anger, Gregory J., Crocker, Susan, McKenzie, Kyle, Brown, Kerry K., Morton, Cynthia C., Harrison, Karen, MacKenzie, Jennifer J.
Vydáno v Am J Audiol (2014)

ACMG clinical laboratory standards for next-generation sequencing

Autor Rehm, Heidi L., Bale, Sherri J, Bayrak-Toydemir, Pinar, Berg, Jonathan S, Brown, Kerry K, Deignan, Joshua L, Friez, Michael J, Funke, Birgit H, Hegde, Madhuri R, Lyon, Elaine
Vydáno 2013

HOXA2 Haploinsufficiency in Dominant Bilateral Microtia and Hearing Loss

Autor Brown, Kerry K., Viana, Lucas M., Helwig, Cecilia C., Artunduaga, Maria A., Quintanilla-Dieck, Lourdes, Jarrin, Patricia, Osorno, Gabriel, McDonough, Barbara, DePalma, Steven R., Eavey, Roland D., Seidman, Jonathan G., Seidman, Christine E.
Vydáno 2013

Loss of LDAH associated with prostate cancer and hearing loss

Autor Currall, Benjamin B, Chen, Ming, Sallari, Richard C, Cotter, Maura, Wong, Kristen E, Robertson, Nahid G, Penney, Kathryn L, Lunardi, Andrea, Reschke, Markus, Hickox, Ann E, Yin, Yanbo, Wong, Garrett T, Fung, Jacqueline, Brown, Kerry K, Williamson, Robin E, Sinnott-Armstrong, Nicholas A, Kammin, Tammy, Ivanov, Andrew, Zepeda-Mendoza, Cinthya J, Shen, Jun, Quade, Bradley J, Signoretti, Sabina, Arnos, Kathleen S, Banks, Alexander S, Patsopoulos, Nikolaos, Liberman, M Charles, Kellis, Manolis, Pandolfi, Pier Paolo, Morton, Cynthia C
Vydáno v Hum Mol Genet (2018)

Corrigendum: Loss of LDAH associated with prostate cancer and hearing loss

Autor Currall, Benjamin B, Chen, Ming, Sallari, Richard C, Cotter, Maura, Wong, Kristen E, Robertson, Nahid G, Penney, Kathryn L, Lunardi, Andrea, Reschke, Markus, Hickox, Ann E, Yin, Yanbo, Wong, Garrett T, Fung, Jacqueline, Brown, Kerry K, Williamson, Robin E, Sinnott-Armstrong, Nicholas A, Kammin, Tammy, Ivanov, Andrew, Zepeda-Mendoza, Cinthya J, Shen, Jun, Quade, Bradley J, Signoretti, Sabina, Arnos, Kathleen S, Banks, Alexander S, Patsopoulos, Nikolaos, Liberman, M Charles, Kellis, Manolis, Pandolfi, Pier Paolo, Morton, Cynthia C
Vydáno v Hum Mol Genet (2019)

Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project

Autor Higgins, Anne W., Alkuraya, Fowzan S., Bosco, Amy F., Brown, Kerry K., Bruns, Gail A.P., Donovan, Diana J., Eisenman, Robert, Fan, Yanli, Farra, Chantal G., Ferguson, Heather L., Gusella, James F., Harris, David J., Herrick, Steven R., Kelly, Chantal, Kim, Hyung-Goo, Kishikawa, Shotaro, Korf, Bruce R., Kulkarni, Shashikant, Lally, Eric, Leach, Natalia T., Lemyre, Emma, Lewis, Janine, Ligon, Azra H., Lu, Weining, Maas, Richard L., MacDonald, Marcy E., Moore, Steven D.P., Peters, Roxanna E., Quade, Bradley J., Quintero-Rivera, Fabiola, Saadi, Irfan, Shen, Yiping, Shendure, Jay, Williamson, Robin E., Morton, Cynthia C.
Vydáno 2008

Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project

Autor Higgins, Anne W., Alkuraya, Fowzan S., Bosco, Amy F., Brown, Kerry K., Bruns, Gail A.P., Donovan, Diana J., Eisenman, Robert, Fan, Yanli, Farra, Chantal G., Ferguson, Heather L., Gusella, James F., Harris, David J., Herrick, Steven R., Kelly, Chantal, Kim, Hyung-Goo, Kishikawa, Shotaro, Korf, Bruce R., Kulkarni, Shashikant, Lally, Eric, Leach, Natalia T., Lemyre, Emma, Lewis, Janine, Ligon, Azra H., Lu, Weining, Maas, Richard L., MacDonald, Marcy E., Moore, Steven D.P., Peters, Roxanna E., Quade, Bradley J., Quintero-Rivera, Fabiola, Saadi, Irfan, Shen, Yiping, Shendure, Jay, Williamson, Robin E., Morton, Cynthia C.
Vydáno 2008

De novo mutations in histone modifying genes in congenital heart disease

Autor Zaidi, Samir, Choi, Murim, Wakimoto, Hiroko, Ma, Lijiang, Jiang, Jianming, Overton, John D., Romano-Adesman, Angela, Bjornson, Robert D., Breitbart, Roger E., Brown, Kerry K., Carriero, Nicholas J., Cheung, Yee Him, Deanfield, John, DePalma, Steve, Fakhro, Khalid A., Glessner, Joseph, Hakonarson, Hakon, Italia, Michael, Kaltman, Jonathan R., Kaski, Juan, Kim, Richard, Kline, Jennie K., Lee, Teresa, Leipzig, Jeremy, Lopez, Alexander, Mane, Shrikant M., Mitchell, Laura E., Newburger, Jane W., Parfenov, Michael, Pe'er, Itsik, Porter, George, Roberts, Amy, Sachidanandam, Ravi, Sanders, Stephan J., Seiden, Howard S., State, Mathew W., Subramanian, Sailakshmi, Tikhonova, Irina R., Wang, Wei, Warburton, Dorothy, White, Peter S., Williams, Ismee A., Zhao, Hongyu, Seidman, Jonathan G., Brueckner, Martina, Chung, Wendy K., Gelb, Bruce D., Goldmuntz, Elizabeth, Seidman, Christine E., Lifton, Richard P.
Vydáno 2013