Zobrazeno 1 - 10
of 1 439
pro vyhledávání: '"Hamosh A"'
Autor:
Roberts, Angharad M., DiStefano, Marina T., Riggs, Erin Rooney, Josephs, Katherine S., Alkuraya, Fowzan S., Amberger, Joanna, Amin, Mutaz, Berg, Jonathan S., Cunningham, Fiona, Eilbeck, Karen, Firth, Helen V., Foreman, Julia, Hamosh, Ada, Hay, Eleanor, Leigh, Sarah, Martin, Christa L., McDonagh, Ellen M., Perrett, Daniel, Ramos, Erin M., Robinson, Peter N., Rath, Ana, Sant, David W., Stark, Zornitza, Whiffin, Nicola, Rehm, Heidi L., Ware, James S.
Publikováno v:
In Genetics in Medicine February 2024 26(2)
Autor:
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
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101830- (2024)
Purpose: The variome of the Turkish (TK) population, a population with a considerable history of admixture and consanguinity, has not been deeply investigated for insights on the genomic architecture of disease. Methods: We generated and analyzed a d
Externí odkaz:
https://doaj.org/article/4b8466185e2c495d93ed506bd062f406
Autor:
Courtney Thaxton, Leslie Biesecker, Marina DiStefano, Melissa Haendel, Emma Owens, Ada Hamosh, Sharon Plon, Heidi Rehm, Jonathan Berg
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101052- (2024)
Externí odkaz:
https://doaj.org/article/cc486d7309c641a2916403a0adce5590
Autor:
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
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101476- (2024)
Externí odkaz:
https://doaj.org/article/fd7a496fb21447cda656ca8034d9483a
Autor:
RaeLynn Forsyth, Ryan H. Peretz, Angela Dempsey, Jacquelyn Britton, Lisa Kratz, Ada Hamosh, Hilary Vernon, Mark L. Batshaw, David Valle
Publikováno v:
JIMD Reports, Vol 64, Iss 3, Pp 233-237 (2023)
Abstract Urea cycle disorders (UCDs) comprise a group of inborn errors of metabolism with impaired ammonia clearance and an incidence of ~1:35 000 individuals. First described in the 1970s, the diagnosis and management of these disorders has evolved
Externí odkaz:
https://doaj.org/article/08f12e26bdad4c98bbf06f0a94ea5ee3
Autor:
Coban-Akdemir, Zeynep, Song, Xiaofei, Ceballos, Francisco C., Pehlivan, Davut, Karaca, Ender, Bayram, Yavuz, Mitani, Tadahiro, Gambin, Tomasz, Bozkurt-Yozgatli, Tugce, Jhangiani, Shalini N., Muzny, Donna M., Lewis, Richard A., Liu, Pengfei, Boerwinkle, Eric, Hamosh, Ada, Gibbs, Richard A., Sutton, V. Reid, Sobreira, Nara, Carvalho, Claudia M.B., Shaw, Chad A., Posey, Jennifer E., Valle, David, Lupski, James R.
Publikováno v:
In Genetics in Medicine Open 2024 2
Autor:
Thaxton, Courtney, Goldstein, Jennifer, DiStefano, Marina, Wallace, Kathleen, Witmer, P. Dane, Haendel, Melissa A., Hamosh, Ada, Rehm, Heidi L., Berg, Jonathan S.
Publikováno v:
In Cell Genomics 11 May 2022 2(5)
P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions
Autor:
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
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100498- (2023)
Externí odkaz:
https://doaj.org/article/33db357776d94cb5babd1aacc95aaecd
Autor:
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
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100734- (2023)
Externí odkaz:
https://doaj.org/article/e1a01f486f2c4397ad554b19f25e1d15
Autor:
Elizabeth Wohler, Renan Martin, Sean Griffith, Eliete da S. Rodrigues, Corina Antonescu, Jennifer E. Posey, Zeynep Coban-Akdemir, Shalini N. Jhangiani, Kimberly F. Doheny, James R. Lupski, David Valle, Ada Hamosh, Nara Sobreira
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background With the advent of whole exome (ES) and genome sequencing (GS) as tools for disease gene discovery, rare variant filtering, prioritization and data sharing have become essential components of the search for disease genes and varia
Externí odkaz:
https://doaj.org/article/4318a9ec0d084d8d8a388f43495e19c1