A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair
Gripp, Karen W., Aldinger, Kimberly A., Bennett, James T., Baker, Laura, Tusi, Jessica, Powell-Hamilton, Nina, Stabley, Deborah, Sol-Church, Katia, Timms, Andrew E., Dobyns, William B.
Published in American journal of medical genetics. Part A (01.09.2016)
Published in American journal of medical genetics. Part A (01.09.2016)
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Journal Article
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure
Mulchandani, Surabhi, Bhoj, Elizabeth J., Luo, Minjie, Powell-Hamilton, Nina, Jenny, Kim, Gripp, Karen W., Elbracht, Miriam, Eggermann, Thomas, Turner, Claire L.S., Temple, I. Karen, Mackay, Deborah J.G., Dubbs, Holly, Stevenson, David A., Slattery, Leah, Zackai, Elaine H., Spinner, Nancy B., Krantz, Ian D., Conlin, Laura K.
Published in Genetics in medicine (01.04.2016)
Published in Genetics in medicine (01.04.2016)
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Journal Article
P343: Distinctive facial features, cleft palate, talipes equinovarus, genital anomalies and 2,3 toe syndactyly in individuals with prenatal opiate exposure
Wadman, Erin, Fernandes, Erica, Powell-Hamilton, Nina, Muss, Candace, Alves, Carolina, Gripp, Karen W.
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations
Palmer, Elizabeth E., Kumar, Raman, Gordon, Christopher T., Shaw, Marie, Hubert, Laurence, Carroll, Renee, Rio, Marlène, Murray, Lucinda, Leffler, Melanie, Dudding-Byth, Tracy, Oufadem, Myriam, Lalani, Seema R., Lewis, Andrea M., Xia, Fan, Tam, Allison, Webster, Richard, Brammah, Susan, Filippini, Francesca, Pollard, John, Spies, Judy, Minoche, Andre E., Cowley, Mark J., Risen, Sarah, Powell-Hamilton, Nina N., Tusi, Jessica E., Immken, LaDonna, Nagakura, Honey, Bole-Feysot, Christine, Nitschké, Patrick, Garrigue, Alexandrine, de Saint Basile, Geneviève, Kivuva, Emma, Scott, Richard H., Rendon, Augusto, Munnich, Arnold, Newman, William, Kerr, Bronwyn, Besmond, Claude, Rosenfeld, Jill A., Amiel, Jeanne, Field, Michael, Gecz, Jozef
Published in American journal of human genetics (07.12.2017)
Published in American journal of human genetics (07.12.2017)
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Journal Article
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome
Sheppard, Sarah E., Campbell, Ian M., Harr, Margaret H., Gold, Nina, Li, Dong, Bjornsson, Hans T., Cohen, Julie S., Fahrner, Jill A., Fatemi, Ali, Harris, Jacqueline R., Nowak, Catherine, Stevens, Cathy A., Grand, Katheryn, Au, Margaret, Graham, John M., Sanchez‐Lara, Pedro A., Campo, Miguel Del, Jones, Marilyn C., Abdul‐Rahman, Omar, Bassetti, Jennifer A., Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie D., Derar, Nada, Gripp, Karen W., Hauser, Natalie, Innes, A. Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata J., Rahbeeni, Zuhair, Ben‐Shachar, Shay, Shieh, Joseph T., Slavotinek, Anne, Sobering, Andrew K., Abbott, Mary‐Alice, Allain, Dawn C., Amlie‐Wolf, Louise, Au, Ping Yee Billie, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan A., Cytrynbaum, Cheryl, Chung, Brian Hon‐Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores‐Daboub, Josue A., Dubbs, Holly, Felix, Carolyn A., Fong, Chin‐To, Fung, Jasmine Lee Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa K., Hersh, Joseph, Izumi, Kosuke, Kravets, Elijah, Kwok, Pui‐Yan, Jobling, Rebekah K., Knight Johnson, Amy E., Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D. Ross, Mentch, Frank D., Minks, Kelly, Muraresku, Colleen, Nelson, Stanley F., Porazzi, Patrizia, Pichurin, Pavel N., Powell‐Hamilton, Nina N., Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Falk, Marni J., Hakonarson, Hakon, Zackai, Elaine H., Quintero‐Rivera, Fabiola
Published in American journal of medical genetics. Part A (01.06.2021)
Published in American journal of medical genetics. Part A (01.06.2021)
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Journal Article
A novel syndrome associated with prenatal fentanyl exposure
Wadman, Erin, Fernandes, Erica, Muss, Candace, Powell-Hamilton, Nina, Wojcik, Monica H., Madden, Jill A., Carreon, Chrystalle Katte, Clark, Robin D., Stenftenagel, Annie, Chikalard, Kamal, Kimonis, Virginia, Brucker, William, Alves, Carolina, Gripp, Karen W.
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Journal Article
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients
Moortgat, Stéphanie, Berland, Siren, Aukrust, Ingvild, Maystadt, Isabelle, Baker, Laura, Benoit, Valerie, Caro-Llopis, Alfonso, Cooper, Nicola S, Debray, François-Guillaume, Faivre, Laurence, Gardeitchik, Thatjana, Haukanes, Bjørn I, Houge, Gunnar, Kivuva, Emma, Martinez, Francisco, Mehta, Sarju G, Nassogne, Marie-Cécile, Powell-Hamilton, Nina, Pfundt, Rolph, Rosello, Monica, Prescott, Trine, Vasudevan, Pradeep, van Loon, Barbara, Verellen-Dumoulin, Christine, Verloes, Alain, Lippe, Charlotte von der, Wakeling, Emma, Wilkie, Andrew O M, Wilson, Louise, Yuen, Amy, Study, Ddd, Low, Karen J, Newbury-Ecob, Ruth A
Published in European journal of human genetics : EJHG (01.01.2018)
Published in European journal of human genetics : EJHG (01.01.2018)
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Web Resource
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders
Bostwick, Bret L, McLean, Scott, Posey, Jennifer E, Streff, Haley E, Gripp, Karen W, Blesson, Alyssa, Powell-Hamilton, Nina, Tusi, Jessica, Stevenson, David A, Farrelly, Ellyn, Hudgins, Louanne, Yang, Yaping, Xia, Fan, Wang, Xia, Liu, Pengfei, Walkiewicz, Magdalena, McGuire, Marianne, Grange, Dorothy K, Andrews, Marisa V, Hummel, Marybeth, Madan-Khetarpal, Suneeta, Infante, Elena, Coban-Akdemir, Zeynep, Miszalski-Jamka, Karol, Jefferies, John L, Rosenfeld, Jill A, Emrick, Lisa, Nugent, Kimberly M, Lupski, James R, Belmont, John W, Lee, Brendan, Lalani, Seema R
Published in Genome medicine (14.08.2017)
Published in Genome medicine (14.08.2017)
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eP291 - Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome
Campbell, Ian, Harr, Margaret, Gold, Nina, Li, Dong, Bjornsson, Hans, Cohen, Julie, Fahrner, Jill, Fatemi, Ali, Harris, Jacqueline, Nowak, Catherine, Stevens, Cathy, Grand, Katheryn, Au, Margaret, Graham, John, Sanchez-Lara, Pedro, Del Campo, Miguel, Jones, Marilyn, Abdul-Rahman, Omar, Alkuraya, Fowzan, Bassetti, Jennifer, Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie, Derar, Nada, Gripp, Karen W., Hauser, Natalie, Innes, Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata, Rahbeeni, Zuhair, Ben-Shachar, Shay, Shieh, Joseph, Slavotinek, Anne, Sobering, Andrew, Abbott, Mary-Alice, Allain, Dawn, Amlie-Wolf, Louise, Billie Au, Ping Yee, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan, Cytrynbaum, Cheryl, Chung, Brian Hon-Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores-Daboub, Josue, Dubbs, Holly, Felix, Carolyn, Fong, Chin-To, Fung, Jasmine Lee-Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa, Hersh, Joseph, Izumi, Kosuke, Kallish, Staci, Kwok, Pui-Yan, Jobling, Rebekah, Knight-Johnson, Amy, Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D. Ross, Mentch, Frank, Minks, Kelly, Muraresku, Colleen, Nelson, Stanley, Porazzi, Patrizia, Pichurin, Pavel, Powell-Hamilton, Nina, Powis, Zoe, Ritter, Alyssa, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Zand, Dina, Falk, Marni, Hakonarson, Hakon, Zackai, Elaine, Quintero-Rivera, Fabiola
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome
Sheppard, Sarah, Campbell, Ian, Harr, Margaret, Gold, Nina, Li, Dong, Bjornsson, Hans, Cohen, Julie, Fahrner, Jill, Fatemi, Ali, Harris, Jacqueline, Nowak, Catherine, Stevens, Cathy, Grand, Katheryn, Au, Margaret, Graham, John, Sanchez-Lara, Pedro, Del Campo, Miguel, Jones, Marilyn, Abdul-Rahman, Omar, Alkuraya, Fowzan, Bassetti, Jennifer, Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie, Derar, Nada, Gripp, Karen W., Hauser, Natalie, Innes, Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata, Rahbeeni, Zuhair, Ben-Shachar, Shay, Shieh, Joseph, Slavotinek, Anne, Sobering, Andrew, Abbott, Mary-Alice, Allain, Dawn, Amlie-Wolf, Louise, Billie Au, Ping Yee, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan, Cytrynbaum, Cheryl, Chung, Brian Hon-Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores-Daboub, Josue, Dubbs, Holly, Felix, Carolyn, Fong, Chin-To, Fung, Jasmine Lee-Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa, Hersh, Joseph, Izumi, Kosuke, Kallish, Staci, Kravets, Elijah, Kwok, Pui-Yan, Jobling, Rebekah, Knight-Johnson, Amy, Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D. Ross, Mentch, Frank, Minks, Kelly, Muraresku, Colleen, Nelson, Stanley, Porazzi, Patrizia, Pichurin, Pavel, Powell-Hamilton, Nina, Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Zand, Dina, Falk, Marni
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
Clinical, Pathologic, and Mutational Spectrum of Dystroglycanopathy Caused by LARGE Mutations
Meilleur, Katherine G, Zukosky, Kristen, Medne, Livija, Fequiere, Pierre, Powell-Hamilton, Nina, Winder, Thomas L, Alsaman, Abdulaziz, El-Hattab, Ayman W, Dastgir, Jahannaz, Hu, Ying, Donkervoort, Sandra, Golden, Jeffrey A, Eagle, Ralph, Finkel, Richard, Scavina, Mena, Hood, Ian C, Rorke-Adams, Lucy B, Bönnemann, Carsten G
Published in Journal of neuropathology and experimental neurology (01.05.2014)
Published in Journal of neuropathology and experimental neurology (01.05.2014)
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Journal Article
Clinical, Pathological and Mutational Spectrum of Dystroglycanopathy Due to LARGE Mutations
Meilleur, Katherine G., Zukosky, Kristen, Medne, Livija, Fequiere, Pierre, Powell-Hamilton, Nina, Winder, Thomas L., Alsaman, Abdulaziz, El-Hattab, Ayman W., Dastgir, Jahannaz, Hu, Ying, Donkervoort, Sandra, Golden, Jeffrey A., Eagle, Ralph, Finkel, Richard, Scavina, Mena, Hood, Ian C., Rorke-Adams, Lucy B., Bönnemann, Carsten G.
Published in Journal of neuropathology and experimental neurology (01.05.2014)
Published in Journal of neuropathology and experimental neurology (01.05.2014)
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Journal Article
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
Kummeling, Joost, Stremmelaar, Diante E, Raun, Nicholas, Reijnders, Margot Rf, Willemsen, Marjolein H, Ruiterkamp-Versteeg, Martina, Schepens, Marga, Calvin Co Man, Gilissen, Christian, Cho, Megan T, Mcwalter, Kirsty, Sinnema, Margje, Wheless, James W, Simon, Marleen Eh, Genetti, Casie A, Casey, Alicia M, Terhal, Paulien A, Jasper `j Van Der Smagt, Van Gassen, Koen L, Joset, Pascal, Bahr, Angela, Steindl, Katharina, Rauch, Anita, Keller, Elmar, Raas-Rothschild, Annick, Koolen, David A, Agrawal, Pankaj B, Hoffman, Trevor L, Powell-Hamilton, Nina N, Thiffault, Isabelle, Engleman, Kendra, Zhou, Dihong, Bodamer, Olaf, Hoefele, Julia, Riedhammer, Korbinian M, Eva Mc Schwaibold, Tasic, Velibor, Schubert, Dirk, Top, Deniz, Rolph Pfundt, Higgs, Martin R, Kramer, Jamie M, Kleefstra, Tjitske
Published in bioRxiv (18.12.2019)
Published in bioRxiv (18.12.2019)
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