Works matching Brown, Chester

Results: 51
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    Recurrent HERV- H-Mediated 3q13.2-q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays.

    Published in:
    Human Mutation, 2013, v. 34, n. 10, p. 1415, doi. 10.1002/humu.22384
    By:
    • Shuvarikov, Andrey;
    • Campbell, Ian M.;
    • Dittwald, Piotr;
    • Neill, Nicholas J.;
    • Bialer, Martin G.;
    • Moore, Christine;
    • Wheeler, Patricia G.;
    • Wallace, Stephanie E.;
    • Hannibal, Mark C.;
    • Murray, Michael F.;
    • Giovanni, Monica A.;
    • Terespolsky, Deborah;
    • Sodhi, Sandi;
    • Cassina, Matteo;
    • Viskochil, David;
    • Moghaddam, Billur;
    • Herman, Kristin;
    • Brown, Chester W.;
    • Beck, Christine R.;
    • Gambin, Anna
    Publication type:
    Article
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    An Overview of UBTF Neuroregression Syndrome.

    Published in:
    Brain Sciences (2076-3425), 2024, v. 14, n. 2, p. 179, doi. 10.3390/brainsci14020179
    By:
    • Braden, Anneliesse A.;
    • Xiao, Jianfeng;
    • Hori, Roderick;
    • Brown, Chester;
    • Khan, Mohammad Moshahid
    Publication type:
    Article
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    Exome Sequencing Reveals a Putative Role for HLA-C*03:02 in Control of HIV-1 in African Pediatric Populations.

    Published in:
    Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.720213
    By:
    • Kyobe, Samuel;
    • Mwesigwa, Savannah;
    • Kisitu, Grace P.;
    • Farirai, John;
    • Katagirya, Eric;
    • Mirembe, Angella N.;
    • Ketumile, Lesego;
    • Wayengera, Misaki;
    • Katabazi, Fred Ashaba;
    • Kigozi, Edgar;
    • Wampande, Edward M.;
    • Retshabile, Gaone;
    • Mlotshwa, Busisiwe C.;
    • Williams, Lesedi;
    • Morapedi, Koketso;
    • Kasvosve, Ishmael;
    • Kyosiimire-Lugemwa, Jacqueline;
    • Nsangi, Betty;
    • Tsimako-Johnstone, Masego;
    • Brown, Chester W.
    Publication type:
    Article
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    Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.

    Published in:
    Human Mutation, 2017, v. 38, n. 10, p. 1365, doi. 10.1002/humu.23282
    By:
    • Marom, Ronit;
    • Jain, Mahim;
    • Burrage, Lindsay C.;
    • Song, I‐Wen;
    • Graham, Brett H.;
    • Brown, Chester W.;
    • Stevens, Servi J.C.;
    • Stegmann, Alexander P.A.;
    • Gunter, Andrew T.;
    • Kaplan, Julie D.;
    • Gavrilova, Ralitza H.;
    • Shinawi, Marwan;
    • Rosenfeld, Jill A.;
    • Bae, Yangjin;
    • Tran, Alyssa A.;
    • Chen, Yuqing;
    • Lu, James T.;
    • Gibbs, Richard A.;
    • Eng, Christine;
    • Yang, Yaping
    Publication type:
    Article
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    Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1240, doi. 10.1038/ejhg.2012.95
    By:
    • Schaaf, Christian P;
    • Boone, Philip M;
    • Sampath, Srirangan;
    • Williams, Charles;
    • Bader, Patricia I;
    • Mueller, Jennifer M;
    • Shchelochkov, Oleg A;
    • Brown, Chester W;
    • Crawford, Heather P;
    • Phalen, James A;
    • Tartaglia, Nicole R;
    • Evans, Patricia;
    • Campbell, William M;
    • Chun-Hui Tsai, Anne;
    • Parsley, Lea;
    • Grayson, Stephanie W;
    • Scheuerle, Angela;
    • Luzzi, Carol D;
    • Thomas, Sandra K;
    • Eng, Patricia A
    Publication type:
    Article
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    Identification of novel candidate disease genes from de novo exonic copy number variants.

    Published in:
    Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0472-7
    By:
    • Gambin, Tomasz;
    • Bo Yuan;
    • Weimin Bi;
    • Pengfei Liu;
    • Rosenfeld, Jill A.;
    • Coban-Akdemir, Zeynep;
    • Pursley, Amber N.;
    • Nagamani, Sandesh C. S.;
    • Marom, Ronit;
    • Golla, Sailaja;
    • Dengle, Lauren;
    • Petrie, Heather G.;
    • Matalon, Reuben;
    • Emrick, Lisa;
    • Proud, Monica B.;
    • Treadwell-Deering, Diane;
    • Hsiao-Tuan Chao;
    • Koillinen, Hannele;
    • Brown, Chester;
    • Urraca, Nora
    Publication type:
    Article
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    First Impressions of a Virtual Hearing at ICSID.

    Published in:
    ICSID Review: Foreign Investment Law Journal, 2020, v. 35, n. 1/2, p. 214, doi. 10.1093/icsidreview/siaa030
    By:
    • Brown, Chester;
    • McNeill, Mark;
    • Sharpe, Jeremy K
    Publication type:
    Article
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    Phenotypic expansion of POGZ‐related intellectual disability syndrome (White‐Sutton syndrome).

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 38, doi. 10.1002/ajmg.a.61380
    By:
    • Assia Batzir, Nurit;
    • Posey, Jennifer E.;
    • Song, Xiaofei;
    • Akdemir, Zeynep Coban;
    • Rosenfeld, Jill A.;
    • Brown, Chester W.;
    • Chen, Emily;
    • Holtrop, Shannon G.;
    • Mizerik, Elizabeth;
    • Nieto Moreno, Margarita;
    • Payne, Katelyn;
    • Raas‐Rothschild, Annick;
    • Scott, Richard;
    • Vernon, Hilary J.;
    • Zadeh, Neda;
    • Lupski, James R.;
    • Sutton, V. Reid
    Publication type:
    Article
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    Recent Deaths.

    Published in:
    1975
    By:
    • Church, William F.;
    • Constable, Giles;
    • Webb, Ross A.;
    • Wright, Gordon;
    • Hoxie, R. Gordon;
    • Emery, Ruth;
    • Burggraaff, Winfield J.
    Publication type:
    Obituary
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