Search Results - Ada Hamosh
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Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report by Suraj Kannan, Joann N. Bodurtha, Ada Hamosh, Christopher Jordan
Published in Molecular Genetics & Genomic Medicine (2022-08-01)Get full text
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P527: The first online genetic assistant training program: Curriculum, student demographics and outcomes by Carolyn Applegate, Jennifer Cedeno, Kelsey Guthrie, Lindsay Ledebur, Ashley Law, Robert Kearns, Ada Hamosh, David Valle
Published in Genetics in Medicine Open (2025-01-01)Get full text
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P155: The ClinGen framework for naming monogenic diseases* by Courtney Thaxton, Leslie Biesecker, Marina DiStefano, Melissa Haendel, Emma Owens, Ada Hamosh, Sharon Plon, Heidi Rehm, Jonathan Berg
Published in Genetics in Medicine Open (2024-01-01)Get full text
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P273: A decade of rapid exome sequencing at a tertiary care center by Ria Datwani, Lauren Vitalicia, Brianna Swartz, Tsigereda Adane, Sophia Choi, Nadav Weinstock, Ada Hamosh, Jacquelyn Britton, Carolyn Applegate, Joann Bodurtha
Published in Genetics in Medicine Open (2025-01-01)Get full text
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The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem by RaeLynn Forsyth, Ryan H. Peretz, Angela Dempsey, Jacquelyn Britton, Lisa Kratz, Ada Hamosh, Hilary Vernon, Mark L. Batshaw, David Valle
Published in JIMD Reports (2023-05-01)Get full text
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P722: VariantMatcher and the variant-level matching network to facilitate variant classification and disease gene discovery by Nara Sobreira, Marcelo Szeremeta, Darine Villela, Renan Martin, Sean Griffith, Laura Vail, Jennifer Posey, Kimberly Doheny, James Lupski, David Valle, Ada Hamosh, Corina Antonescu
Published in Genetics in Medicine Open (2025-01-01)Get full text
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P669: VariantMatcher: A tool to enable connections amongst individuals with interest in a specific variant by Nara Sobreira, Sean Griffith, Corina Antonescu, Laura Vail, Jennifer Posey, Zeynep Coban-Akdemir, Shalini Jhangiani, Kimberly Doheny, James Lupski, David Valle, Ada Hamosh, Renan Martin
Published in Genetics in Medicine Open (2023-01-01)Get full text
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Expression of concern for global biomedical research by the human genome organization (HUGO) by Ada Hamosh, Fabiana Arzuaga, Karen B. Avraham, Zilfalil Bin Alwi, Anne Bowcock, Sir John Burn, Piero Carninci, Collet Dandara, Iscia Lopes-Cendes, Leon Mutesa, Partha P. Majumder, Juergen K.V. Reichardt, Joris A. Veltman
Published in Human Genomics (2025-04-01)Get full text
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Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases by Chiuhui Mary Wang, Amy Heagle Whiting, Ana Rath, Roberta Anido, Diego Ardigò, Gareth Baynam, Hugh Dawkins, Ada Hamosh, Yann Le Cam, Helen Malherbe, Caron M. Molster, Lucia Monaco, Carmencita D. Padilla, Anne R. Pariser, Peter N. Robinson, Charlotte Rodwell, Franz Schaefer, Stefanie Weber, Flaminia Macchia
Published in Orphanet Journal of Rare Diseases (2024-09-01)Get full text
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The impact of the Turkish population variome on the genomic architecture of rare disease traits by Zeynep Coban-Akdemir, Xiaofei Song, Francisco C. Ceballos, Davut Pehlivan, Ender Karaca, Yavuz Bayram, Tadahiro Mitani, Tomasz Gambin, Tugce Bozkurt-Yozgatli, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Lewis, Pengfei Liu, Eric Boerwinkle, Ada Hamosh, Richard A. Gibbs, V. Reid Sutton, Nara Sobreira, Claudia M.B. Carvalho, Chad A. Shaw, Jennifer E. Posey, David Valle, James R. Lupski
Published in Genetics in Medicine Open (2024-01-01)Get full text
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Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation by Irini Manoli, Justin R. Sysol, PamelaSara E. Head, Madeline W. Epping, Oksana Gavrilova, Melissa K. Crocker, Jennifer L. Sloan, Stefanos A. Koutsoukos, Cindy Wang, Yiouli P. Ktena, Sophia Mendelson, Alexandra R. Pass, Patricia M. Zerfas, Victoria Hoffmann, Hilary J. Vernon, Laura A. Fletcher, James C. Reynolds, Maria G. Tsokos, Constantine A. Stratakis, Stephan D. Voss, Kong Y. Chen, Rebecca J. Brown, Ada Hamosh, Gerard T. Berry, Xiaoyuan Shawn Chen, Jack A. Yanovski, Charles P. Venditti
Published in JCI Insight (2024-02-01)Get full text
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P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions by Marina DiStefano, Joanna Amberger, Christina Austin-Tse, Marie Balzotti, Mutaz Amin, Jonathan Berg, Carol Bocchini, Elspeth Bruford, Fowzan Alkuraya, Alison Coffey, Heather Collins, Fiona Cunningham, Helen Firth, David Fitzpatrick, Yaron Einhorn, Jennifer Goldstein, Ada Hamosh, Sarah Leigh, Ivone Leong, Christa Martin, Ellen McDonagh, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, Jackie Tahiliani, James Ware, Eleanor Williams, Caroline Wright, Michael Yates, Phillip Weller, Heidi Rehm
Published in Genetics in Medicine Open (2023-01-01)Get full text
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P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition* by Marina DiStefano, Fowzan Alkuraya, Joanna Amberger, Christina Austin-Tse, Ola Austine, Marie Balzotti, Jonathan Berg, Elspeth Bruford, Alicia Byrne, Elena Cibrian-Uhalte, Alison Coffey, Helen Firth, Ada Hamosh, Sarah Hunt, Teri Klein, Catherine Kurtz, Sarah Leigh, Ivone Leong, Caterina Lucano, Sateesh Maddirevula, Audrey O'Neill, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Julie Taylor, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, James Ware, Bess Wayburn, Phillip Weller, Heidi Rehm
Published in Genetics in Medicine Open (2024-01-01)Get full text
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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships by Eleanor C. Broeren, Vanessa N. Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie B. Balzotti, Jonathan S. Berg, Krista Bluske, B. Monica Bowen, Matthew P. Brown, Amanda Buchanan, Brendan T. Burns, Nicole J. Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, Maya Chopra, Amanda R. Clause, Marina T. DiStefano, Stephanie DiTroia, Marwa A. Elnagheeb, Amanda N. Girod, Himanshu Goel, Katie L. Golden-Grant, Thuong Ha, Ada Hamosh, Jennifer M. Huang, Madeline Y. Hughes, Saumya S. Jamuar, Sylvia Kam, Akanchha Kesari, Ai Ling Koh, Rhonda N.T. Lassiter, Sarah E. Leigh, Gabrielle Lemire, Jiin Ying Lim, Alka Malhotra, Hannah R. McCurry, Becky Milewski, Shahida Moosa, Stephen A. Murray, Emma H. Owens, Elizabeth E. Palmer, Brooke C. Palus, Mayher J. Patel, Revathi Rajkumar, Julie C. Ratliff, F. Lucy Raymond, Bruno Della Ripa Rodrigues Assis, Samin A. Sajan, Zinayida Schlachetzki, Sarah A. Schmidt, Zornitza Stark, Samuel P. Strom, Julie P. Taylor, Courtney Thaxton, Devon L. Thrush, Sabrina Toro, Kezang C. Tshering, Nicole A. Vasilevsky, Bess Wayburn, Ryan F. Webb, Anne O’Donnell-Luria, Alison J. Coffey
Published in Genetics in Medicine Open (2025-01-01)Get full text
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GA4GH: International policies and standards for data sharing across genomic research and healthcare by Heidi L. Rehm, Angela J.H. Page, Lindsay Smith, Jeremy B. Adams, Gil Alterovitz, Lawrence J. Babb, Maxmillian P. Barkley, Michael Baudis, Michael J.S. Beauvais, Tim Beck, Jacques S. Beckmann, Sergi Beltran, David Bernick, Alexander Bernier, James K. Bonfield, Tiffany F. Boughtwood, Guillaume Bourque, Sarion R. Bowers, Anthony J. Brookes, Michael Brudno, Matthew H. Brush, David Bujold, Tony Burdett, Orion J. Buske, Moran N. Cabili, Daniel L. Cameron, Robert J. Carroll, Esmeralda Casas-Silva, Debyani Chakravarty, Bimal P. Chaudhari, Shu Hui Chen, J. Michael Cherry, Justina Chung, Melissa Cline, Hayley L. Clissold, Robert M. Cook-Deegan, Mélanie Courtot, Fiona Cunningham, Miro Cupak, Robert M. Davies, Danielle Denisko, Megan J. Doerr, Lena I. Dolman, Edward S. Dove, L. Jonathan Dursi, Stephanie O.M. Dyke, James A. Eddy, Karen Eilbeck, Kyle P. Ellrott, Susan Fairley, Khalid A. Fakhro, Helen V. Firth, Michael S. Fitzsimons, Marc Fiume, Paul Flicek, Ian M. Fore, Mallory A. Freeberg, Robert R. Freimuth, Lauren A. Fromont, Jonathan Fuerth, Clara L. Gaff, Weiniu Gan, Elena M. Ghanaim, David Glazer, Robert C. Green, Malachi Griffith, Obi L. Griffith, Robert L. Grossman, Tudor Groza, Jaime M. Guidry Auvil, Roderic Guigó, Dipayan Gupta, Melissa A. Haendel, Ada Hamosh, David P. Hansen, Reece K. Hart, Dean Mitchell Hartley, David Haussler, Rachele M. Hendricks-Sturrup, Calvin W.L. Ho, Ashley E. Hobb, Michael M. Hoffman, Oliver M. Hofmann, Petr Holub, Jacob Shujui Hsu, Jean-Pierre Hubaux, Sarah E. Hunt, Ammar Husami, Julius O. Jacobsen, Saumya S. Jamuar, Elizabeth L. Janes, Francis Jeanson, Aina Jené, Amber L. Johns, Yann Joly, Steven J.M. Jones, Alexander Kanitz, Kazuto Kato, Thomas M. Keane, Kristina Kekesi-Lafrance, Jerome Kelleher, Giselle Kerry, Seik-Soon Khor, Bartha M. Knoppers, Melissa A. Konopko, Kenjiro Kosaki, Martin Kuba, Jonathan Lawson, Rasko Leinonen, Stephanie Li, Michael F. Lin, Mikael Linden, Xianglin Liu, Isuru Udara Liyanage, Javier Lopez, Anneke M. Lucassen, Michael Lukowski, Alice L. Mann, John Marshall, Michele Mattioni, Alejandro Metke-Jimenez, Anna Middleton, Richard J. Milne, Fruzsina Molnár-Gábor, Nicola Mulder, Monica C. Munoz-Torres, Rishi Nag, Hidewaki Nakagawa, Jamal Nasir, Arcadi Navarro, Tristan H. Nelson, Ania Niewielska, Amy Nisselle, Jeffrey Niu, Tommi H. Nyrönen, Brian D. O’Connor, Sabine Oesterle, Soichi Ogishima, Vivian Ota Wang, Laura A.D. Paglione, Emilio Palumbo, Helen E. Parkinson, Anthony A. Philippakis, Angel D. Pizarro, Andreas Prlic, Jordi Rambla, Augusto Rendon, Renee A. Rider, Peter N. Robinson, Kurt W. Rodarmer, Laura Lyman Rodriguez, Alan F. Rubin, Manuel Rueda, Gregory A. Rushton, Rosalyn S. Ryan, Gary I. Saunders, Helen Schuilenburg, Torsten Schwede, Serena Scollen, Alexander Senf, Nathan C. Sheffield, Neerjah Skantharajah, Albert V. Smith, Heidi J. Sofia, Dylan Spalding, Amanda B. Spurdle, Zornitza Stark, Lincoln D. Stein, Makoto Suematsu, Patrick Tan, Jonathan A. Tedds, Alastair A. Thomson, Adrian Thorogood, Timothy L. Tickle, Katsushi Tokunaga, Juha Törnroos, David Torrents, Sean Upchurch, Alfonso Valencia, Roman Valls Guimera, Jessica Vamathevan, Susheel Varma, Danya F. Vears, Coby Viner, Craig Voisin, Alex H. Wagner, Susan E. Wallace, Brian P. Walsh, Marc S. Williams, Eva C. Winkler, Barbara J. Wold, Grant M. Wood, J. Patrick Woolley, Chisato Yamasaki, Andrew D. Yates, Christina K. Yung, Lyndon J. Zass, Ksenia Zaytseva, Junjun Zhang, Peter Goodhand, Kathryn North, Ewan Birney
Published in Cell Genomics (2021-11-01)Get full text
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