Search Results - Sihoun Hahn

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  1. 1
    A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening

    A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening by Regina Ensenauer, Jerry Vockley, Jan-Marie Willard, Joseph C. Huey, Jörn Oliver Sass, Steven D. Edland, Barbara K. Burton, Susan A. Berry, René Santer, Sarah C. Grünert, Hans‐Georg Koch, Iris Marquardt, Piero Rinaldo, Sihoun Hahn, Dietrich Matern

    Published 2004
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  2. 2
    Novel mutations in <i>ATP1A3</i> associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly

    Novel mutations in <i>ATP1A3</i> associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly by Alex R. Paciorkowski, Sharon S. McDaniel, Laura A. Jansen, Hannah M. Tully, Emily Tuttle, Dalia Ghoneim, Srinivasan Tupal, Sonya A. Gunter, Valeria Vasta, Qing Zhang, Thao Tran, Yi B. Liu, Laurie J. Ozelius, Allison Brashear, Kathleen J. Sweadner, William B. Dobyns, Sihoun Hahn

    Published 2015
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  3. 3
    Issue Information

    Issue Information by Kelly A. Tappenden, David A. August, Juan B. Ochoa, Joseph I. Boullata, Rph Jean, Charles Preiser, Kathleen M. Gura, Marion F. Winkler, Russell J. Merritt, Lillian Banchik, Ding‐You Li, Ronald L. Koretz, Aspen Staff, Wanda Johnson, Kassie Stovell, Catherine B. Klein, Michaël P. Casaer, Isabel Correia, John K. DiBaise, Rose Ann DiMaria‐Ghalili, John Drover, Kazuhiko Fukatsu, Praveen S. Goday, Rosemary A. Kozar, Laura E. Matarese, Sarah Miller, Alan Shenkin, Emma M. Tillman, Justine Turner, Brian Winther, Khursheed N. Jeejeebhoy, St Michael', Douglas W. Wilmore, Bruce R. Bistrian, Josef Finsterer, H. Zweers, Mirian C. H. Janssen, Geert Wanten, Marie Norris, Anna Scott, S.M. Sullivan, Irene Chang, Christina Lam, Angela Sun, Sihoun Hahn, Jenny Thies, Melissa Gunnarson, Kelly N. McKean, J. Lawrence Merritt

    Published 2021
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  4. 4
    Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

    Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for t... by Marni J. Falk, Li Shen, Michael Gonzalez, Jeremy Leipzig, Marie T. Lott, Alphons P. M. Stassen, Maria Angela Diroma, Daniel Navarro-Gomez, Philip E. Yeske, Renkui Bai, Richard G. Boles, Virginia Brilhante, David Ralph, Jeana T. DaRe, Robert Shelton, Sharon F. Terry, Zhe Zhang, William C. Copeland, Mannis van Oven, Holger Prokisch, Douglas C. Wallace, Marcella Attimonelli, Danuta Krotoski, Stephan Züchner, Xiaowu Gai, Sherri J. Bale, Jirair K. Bedoyan, Doron M. Behar, Penelope E. Bonnen, Lisa Brooks, Claudia Calabrese, Sarah E. Calvo, Patrick F. Chinnery, John Christodoulou, Deanna M. Church, Rosanna Clima, Bruce H. Cohen, Richard G.H. Cotton, I.F.M. de Coo, Olga Derbenevoa, Johan T. den Dunnen, David Dimmock, Gregory M. Enns, Giuseppe Gasparre, Amy Goldstein, Iris L. Gonzalez, Katrina Gwinn, Sihoun Hahn, Richard Haas, Hákon Hákonarson, Michio Hirano, Douglas S. Kerr, Dong Li, Maria Lvova, Finley Macrae, Donna Maglott, Elizabeth M. McCormick, Grant Mitchell, Vamsi K. Mootha, Yasushi Okazaki, Aurora Pujol, Melissa A. Parisi, Juan C. Perín, Eric A. Pierce, Vincent Procaccio, Shamima Rahman, Reddi Honey, Heidi L. Rehm, Erin Rooney Riggs, Richard J. Rodenburg, Yaffa Rubinstein, Russell P. Saneto, Mariangela Santorsola, Curt Scharfe, Claire A. Sheldon, Eric A. Shoubridge, Domenico Simone, H.J.M. Smeets, Jan Smeitink, Christine M. Stanley, Anu Suomalainen, Mark A. Tarnopolsky, Isabelle Thiffault, David R. Thorburn, Johan Van Hove, Lynne A. Wolfe, Lee-Jun Wong

    Published 2014
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  5. 5
    De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

    De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability by Sébastien Küry, Geeske M. van Woerden, Thomas Besnard, Martina Proietti Onori, Xénia Latypova, Meghan C. Towne, Megan T. Cho, Trine Prescott, Melissa A. Ploeg, Stephan Sanders, Holly A.F. Stessman, Aurora Pujol, Ben Distel, Laurie Robak, Jonathan A. Bernstein, Anne‐Sophie Denommé‐Pichon, Gaëtan Lesca, Elizabeth A. Sellars, Jonathan Berg, Wilfrid Carré, Øyvind L. Busk, Bregje W.M. van Bon, Jeff L. Waugh, Matthew A. Deardorff, George Hoganson, Katherine B. Bosanko, Diana Johnson, Tabib Dabir, Øystein L. Holla, Ajoy Sarkar, Kristian Tveten, Julitta de Bellescize, Geir J. Braathen, Paulien A. Terhal, Dorothy K. Grange, Arie van Haeringen, Christina Lam, Ghayda Mirzaa, Jennifer Burton, Elizabeth Bhoj, Jessica Douglas, Avni Santani, Addie I. Nesbitt, Katherine L. Helbig, Marisa V. Andrews, Amber Begtrup, Sha Tang, Koen L.I. van Gassen, Jane Juusola, Kimberly Foss, Gregory M. Enns, Ute Moog, Katrin Hinderhofer, Nagarajan Paramasivam, Sharyn A. Lincoln, Brandon H. Kusako, Pierre Lindenbaum, Éric Charpentier, C. Nowak, Elouan Chérot, Thomas Simonet, Claudia Ruivenkamp, Sihoun Hahn, Donna M. Brown, Fan Xia, Sébastien Schmitt, Wallid Deb, Dominique Bonneau, Mathilde Nizon, Delphine Quinquis, Jamel Chelly, Gabrielle Rudolf, Damien Sanlaville, Philippe Parent, Brigitte Gilbert‐Dussardier, Annick Toutain, V. Reid Sutton, Jenny Thies, Lisenka E.L.M. Peart-Vissers, Pierre Boisseau, Marie Vincent, Andreas M. Grabrucker, Christèle Dubourg, Wen‐Hann Tan, Nienke E. Verbeek, Martin Granzow, Gijs W.E. Santen, Jay Shendure, Bertrand Isidor, Laurent Pasquier, Richard Redon, Yaping Yang, Matthew W. State, Tjitske Kleefstra, Benjamin Cogné, Slavé Petrovski, Kyle Retterer, Evan E. Eichler, Jill A. Rosenfeld, Pankaj B. Agrawal

    Published 2017
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  6. 6
    LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

    LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants by Jinfeng Lü, Camilo Toro, David R. Adams, Maria T. Acosta, Margaret P Adam, Raquel L. Alvarez, Justin Alvey, Laura M. Amendola, Ashley Andrews, Euan A. Ashley, Carlos A. Bacino, Güney Bademci, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael J. Bamshad, Deborah Barbouth, Pınar Bayrak‐Toydemir, Anita Beck, Alan H. Beggs, Edward M. Behrens, Gill Bejerano, Hugo J. Bellen, Jimmy Bennett, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Devon Bonner, Lorenzo D. Botto, Brenna Boyd, Lauren C. Briere, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter H. Byers, William E. Byrd, John C. Carey, Olveen Carrasquillo, Thomas Cassini, Ta Chen Chang, Sirisak Chanprasert, Hsiao‐Tuan Chao, Iván K. Chinn, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Heidi Cope, Rosario I. Corona, William J. Craigen, Andrew B. Crouse, Michael L. Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Joie Davis, Jyoti G. Dayal, Esteban C. Dell’Angelica, Patricia Dickson, Katrina M. Dipple, Daniel Doherty, Naghmeh Dorrani, Argenia L. Doss, Emilie D. Douine, Dawn Earl, David J. Eckstein, Lisa Emrick, Christine M. Eng, Marni J. Falk, Elizabeth L. Fieg, Paul G. Fisher, Brent L. Fogel, Irman Forghani, William A. Gahl, I. S. Glass, Bernadette Gochuico, Pagé C. Goddard, Rena A. Godfrey, Katie Golden‐Grant, Alana Grajewski, Don Hadley, Sihoun Hahn, Meghan C. Halley, Rizwan Hamid, Kelly Hassey, Nichole Hayes, Frances A. High, Anne Hing, Fuki M. Hisama, Ingrid A. Holm, Jason Hom, Martha Horike‐Pyne

    Published 2024
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