Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature
Wang, Sophie R., Jacobsen, Christina M., Carmichael, Heather, Edmund, Aaron B., Robinson, Jerid W., Olney, Robert C., Miller, Timothy C., Moon, Jennifer E., Mericq, Veronica, Potter, Lincoln R., Warman, Matthew L., Hirschhorn, Joel N., Dauber, Andrew
Published in Human mutation (01.04.2015)
Published in Human mutation (01.04.2015)
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An Excess of Risk-Increasing Low-Frequency Variants Can Be a Signal of Polygenic Inheritance in Complex Diseases
Chan, Yingleong, Lim, Elaine T., Sandholm, Niina, Wang, Sophie R., McKnight, Amy Jayne, Ripke, Stephan, Daly, Mark J., Neale, Benjamin M., Salem, Rany M., Hirschhorn, Joel N.
Published in American journal of human genetics (06.03.2014)
Published in American journal of human genetics (06.03.2014)
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Large-Scale Pooled Next-Generation Sequencing of 1077 Genes to Identify Genetic Causes of Short Stature
Wang, Sophie R, Carmichael, Heather, Andrew, Shayne F, Miller, Timothy C, Moon, Jennifer E, Derr, Michael A, Hwa, Vivian, Hirschhorn, Joel N, Dauber, Andrew
Published in The journal of clinical endocrinology and metabolism (01.08.2013)
Published in The journal of clinical endocrinology and metabolism (01.08.2013)
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Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect
Dauber, Andrew, Ercan, Altan, Lee, Jack, James, Philip, Jacobs, Pieter P., Ashline, David J., Wang, Sophie R., Miller, Timothy, Hirschhorn, Joel N., Nigrovic, Peter A., Sackstein, Robert
Published in Human molecular genetics (01.06.2014)
Published in Human molecular genetics (01.06.2014)
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Technical Validation of a Next-Generation Sequencing Assay for Detecting Actionable Mutations in Patients with Gastrointestinal Cancer
Wang, Sophie R, Malik, Simeen, Tan, Iain B, Chan, Yang Sun, Hoi, Qiangze, Ow, Jack L, He, Cassandra Z, Ching, Cindy E, Poh, Dianne Y.S, Seah, Hui Maan, Cheung, Katie H.T, Perumal, Dharuman, Devasia, Arun G, Pan, Lu, Ang, Shimin, Lee, Seow Eng, Ten, Rachel, Chua, Clarinda, Tan, Daniel S.W, Qu, James Z.Z, Bylstra, Yasmin M, Lim, Lionel, Lezhava, Alexander, Ng, Pauline C, Wong, Christopher W, Lim, Tony, Tan, Patrick
Published in The Journal of molecular diagnostics : JMD (01.05.2016)
Published in The Journal of molecular diagnostics : JMD (01.05.2016)
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FTO genotype is associated with phenotypic variability of body mass index
JIAN YANG, LOOS, Ruth J. F, WAITE, Lindsay, VERNON SMITH, Albert, YERGES-ARMSTRON, Laura M, MONDA, Keri L, HADLEY, David, MAHAJAN, Anubha, GUO LI, KAPUR, Karen, VITART, Veronique, HUFFMAN, Jennifer E, POWELL, Joseph E, WANG, Sophie R, PALMER, Cameron, ESKO, Tõnu, FISCHER, Krista, JING HUA ZHAO, DEMIRKAN, Ayşe, ISAACS, Aaron, FEITOSA, Mary F, JIAN'AN LUAN, HEARD-COSTA, Nancy L, MEDLAND, Sarah E, WHITE, Charles, JACKSON, Anne U, PREUSS, Michael, ZIEGLER, Andreas, ERIKSSON, Joel, KUTALIK, Zoltán, FRAU, Francesca, NOLTE, Ilja M, VAN VLIET-OSTAPTCHOUK, Jana V, HOTTENGA, Jouke-Jan, SPELIOTES, Elizabeth K, JACOBS, Kevin B, VERWEIJ, Niek, GOEL, Anuj, MEDINA-GOMEZ, Carolina, ESTRADA, Karol, BRAGG-GRESHAM, Jennifer Lynn, SANNA, Serena, SIDORE, Carlo, TYRER, Jonathan, TEUMER, Alexander, CHASMAN, Daniell, PROKOPENKO, Inga, MANGINO, Massimo, LINDGREN, Cecilia M, ASSIMES, Themistocles L, SHULDINER, Alan R, HUI, Jennie, BEILBY, John P, MCARDLE, Wendy L, HALL, Per, HARITUNLANS, Talin, ROSE, Lynda M, THORLEIFSSON, Gudmar, STEINTHORSDOTTIR, Valgerdur, MAGI, Reedik
Published in Nature (London) (11.10.2012)
Published in Nature (London) (11.10.2012)
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Simulation of Finnish Population History, Guided by Empirical Genetic Data, to Assess Power of Rare-Variant Tests in Finland
Wang, Sophie R., Agarwala, Vineeta, Flannick, Jason, Chiang, Charleston W.K., Altshuler, David, Flannick, Jason, Manning, Alisa, Hartl, Christopher, Agarwala, Vineeta, Fontanillas, Pierre, Green, Todd, Banks, Eric, DePristo, Mark, Poplin, Ryan, Shakir, Khalid, Fennell, Timothy, Murphy, Jacquelyn, Burtt, Noël, Gabriel, Stacey, Altshuler, David, Fuchsberger, Christian, Kang, Hyun Min, Sim, Xueling, Ma, Clement, Locke, Adam, Blackwell, Thomas, Jackson, Anne, Teslovich, Tanya, Stringham, Heather, Chines, Peter, Kwan, Phoenix, Huyghe, Jeroen, Tan, Adrian, Jun, Goo, Stitzel, Michael, Bergman, Richard N., Bonnycastle, Lori, Tuomilehto, Jaakko, Collins, Francis S., Scott, Laura, Mohlke, Karen, Abecasis, Gonçalo, Boehnke, Michael, Strom, Tim, Gieger, Christian, Müller-Nurasyid, Martina, Grallert, Harald, Kriebel, Jennifer, Ried, Janina, Hrabé de Angelis, Martin, Huth, Cornelia, Meisinger, Christa, Peters, Annette, Rathmann, Wolfgang, Strauch, Konstantin, Meitinger, Thomas, Kravic, Jasmina, Ladenvall, Claes, Toumi, Tiinamaija, Isomaa, Bo, Groop, Leif, Gaulton, Kyle, Moutsianas, Loukas, Rivas, Manny, Pearson, Richard, Mahajan, Anubha, Prokopenko, Inga, Kumar, Ashish, Perry, John, Chen, Jeff, Howie, Bryan, van de Bunt, Martijn, Small, Kerrin, Lindgren, Cecilia, Lunter, Gerton, Robertson, Neil, Rayner, Will, Morris, Andrew, Buck, David, Hattersley, Andrew, Spector, Tim, McVean, Gil, Frayling, Tim, Donnelly, Peter, McCarthy, Mark, Hirschhorn, Joel N.
Published in American journal of human genetics (01.05.2014)
Published in American journal of human genetics (01.05.2014)
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