Zobrazeno 1 - 10
of 155
pro vyhledávání: '"G. Fisk"'
Autor:
Yu Hou, Linlin Shao, Hai Zhou, Yanfeng Liu, Dianna G. Fisk, Elizabeth Spiteri, James L. Zehnder, Jun Peng, Bing M. Zhang, Ming Hou
Publikováno v:
Platelets, Vol 32, Iss 8, Pp 1108-1112 (2021)
Congenital macrothrombocytopenia is a genetically heterogeneous group of rare disorders. We herein report a large Chinese family presented with phenotypic variability involving thrombocytopenia and/or giant platelets. Whole genome sequencing (WGS) of
Externí odkaz:
https://doaj.org/article/77f0bb85b66d49979f70e5546f1f9cf5
Autor:
Sneha D. Goenka, John E. Gorzynski, Kishwar Shafin, Dianna G. Fisk, Trevor Pesout, Tanner D. Jensen, Jean Monlong, Pi-Chuan Chang, Gunjan Baid, Jonathan A. Bernstein, Jeffrey W. Christle, Karen P. Dalton, Daniel R. Garalde, Megan E. Grove, Joseph Guillory, Alexey Kolesnikov, Maria Nattestad, Maura R. Z. Ruzhnikov, Mehrzad Samadi, Ankit Sethia, Elizabeth Spiteri, Christopher J. Wright, Katherine Xiong, Tong Zhu, Miten Jain, Fritz J. Sedlazeck, Andrew Carroll, Benedict Paten, Euan A. Ashley
Publikováno v:
Nature Biotechnology. 40:1035-1041
Whole-genome sequencing (WGS) can identify variants that cause genetic disease, but the time required for sequencing and analysis has been a barrier to its use in acutely ill patients. In the present study, we develop an approach for ultra-rapid nano
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b65d151eb7d4ec71fe1436b812fc816a
https://doi.org/10.1038/s41587-022-01221-5
https://doi.org/10.1038/s41587-022-01221-5
Autor:
John E. Gorzynski, Sneha D. Goenka, Kishwar Shafin, Tanner D. Jensen, Dianna G. Fisk, Megan E. Grove, Elizabeth Spiteri, Trevor Pesout, Jean Monlong, Gunjan Baid, Jonathan A. Bernstein, Scott Ceresnak, Pi-Chuan Chang, Jeffrey W. Christle, Henry Chubb, Karen P. Dalton, Kyla Dunn, Daniel R. Garalde, Joseph Guillory, Joshua W. Knowles, Alexey Kolesnikov, Michael Ma, Tia Moscarello, Maria Nattestad, Marco Perez, Maura R.Z. Ruzhnikov, Mehrzad Samadi, Ankit Setia, Chris Wright, Courtney J. Wusthoff, Katherine Xiong, Tong Zhu, Miten Jain, Fritz J. Sedlazeck, Andrew Carroll, Benedict Paten, Euan A. Ashley
Publikováno v:
New England Journal of Medicine. 386:700-702
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91c0264852805a7212856b994b82d037
https://doi.org/10.1056/nejmc2112090
https://doi.org/10.1056/nejmc2112090
Autor:
John E. Gorzynski, Sneha D. Goenka, Kishwar Shafin, Tanner D. Jensen, Dianna G. Fisk, Megan E. Grove, Elizabeth Spiteri, Trevor Pesout, Jean Monlong, Jonathan A. Bernstein, Scott Ceresnak, Pi-Chuan Chang, Jeffrey W. Christle, Henry Chubb, Kyla Dunn, Daniel R. Garalde, Joseph Guillory, Maura R.Z. Ruzhnikov, Chris Wright, Courtney J. Wusthoff, Katherine Xiong, Seth A. Hollander, Gerald J. Berry, Miten Jain, Fritz J. Sedlazeck, Andrew Carroll, Benedict Paten, Euan A. Ashley
Publikováno v:
Circulation. Genomic and precision medicine. 15(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f5e84b3776a923006a3938ac4b83c9c
https://pubmed.ncbi.nlm.nih.gov/35133172
https://pubmed.ncbi.nlm.nih.gov/35133172
Autor:
Charlotte V. Y. Knowles, Anil Kanthi, Carolyn Tysoe, Georgia Spentzou, Claire L. S. Turner, Jan A Till, Liza K. Phillips, Anne Moreau de Bellaing, Diptendu Chatterjee, Alexandre Janin, Paul French, Tamara T. Koopmann, Anju Shukla, Melanie T. Achleitner, Loïc de Pontual, Matthew S. Edwards, Deborah J. Morris-Rosendahl, Noha Elserafy, Kirti Mittal, Jessie Cameron, Wendy K. Chung, Saskia B. Wortmann, Sajel L Kana, Kit Doudney, Robert G. Weintraub, Peter M George, Priyanka Ahimaz, Kyla Dunn, Ona Faye-Petersen, Katta M. Girisha, Hannah L. Kennedy, Kate S Lichkus, Alexa Kidd, Sumith Parikh, Jason D. Merker, Megan E. Grove, Ruth McGowan, Laura Brett, Anna C.E. Hurst, Jeanne Amiel, Bindu Parayil Sankaran, Dianna G. Fisk, Clémantine Dimartino, Charlotte L. Alston, Michelle L. Thompson, Johannes A. Mayr, Tessa Homfray, Alan Ma, Robert McFarland, Muhammad A Rafiq, Anne Guimier, Robert M Hamilton, Christian Turner, Karen McLeod, Christopher T. Gordon, Robert W. Taylor, David R. Thorburn, Florence van den Broek, Carolyn Ellaway, Fanny Bajolle
Publikováno v:
Genetics in Medicine, 23, 2415-2425
Genetics in Medicine, 23(12), 2415-2425. SPRINGERNATURE
Genetics in Medicine, 23, 12, pp. 2415-2425
Genetics in Medicine
Genetics in Medicine, 23(12), 2415-2425. SPRINGERNATURE
Genetics in Medicine, 23, 12, pp. 2415-2425
Genetics in Medicine
Purpose Biallelic hypomorphic variants in PPA2, encoding the mitochondrial inorganic pyrophosphatase 2 protein, have been recently identified in individuals presenting with sudden cardiac death, occasionally triggered by alcohol intake or a viral inf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b33a647ce6ed7623f3dcf7ef17e6291
https://hdl.handle.net/1887/3250866
https://hdl.handle.net/1887/3250866
Autor:
Diane B. Zastrow, Cameron J. Prybol, Jason D. Merker, Benjamin J. Strober, Euan A. Ashley, Zachary Zappala, Jennefer N. Kohler, Sowmithri Utiramerur, Chloe M. Reuter, Xin Li, Kevin S. Smith, Alexis Battle, Joe R. Davis, Craig Smail, Devon Bonner, Taila Hartley, Shruti Marwaha, Matthew T. Wheeler, Boxiang Liu, Stephen B. Montgomery, Nicole M. Ferraro, Lars Lind, Dianna G. Fisk, Brunilda Balliu, Nicole A. Teran, Erik Ingelsson, Laure Fresard, Gill Bejerano, Megan E. Grove, Ruchi Joshi, Kym M. Boycott, Jonathan A. Bernstein, Kristin D. Kernohan, Jean M. Davidson
Publikováno v:
Nature medicine
It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene1. The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the mos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9d21fe846ba5f384a238307bea7e217
https://doi.org/10.1038/s41591-019-0457-8
https://doi.org/10.1038/s41591-019-0457-8
Autor:
Jonathan A. Bernstein, David P. Bick, Liliana Fernandez, Jennefer N. Kohler, Devon Bonner, Euan A. Ashley, Christine M. Eng, Chloe M. Reuter, Matthew T. Wheeler, Yaping Yang, Patricia A. Ward, Megan E. Grove, Paul G. Fisher, Elizabeth A. Worthey, Dianna G. Fisk, Diane B. Zastrow
Publikováno v:
J Genet Couns
There are approximately 7,000 rare diseases affecting 25–30 million Americans, with 80% estimated to have a genetic basis. This presents a challenge for genetics practitioners to determine appropriate testing, make accurate diagnoses, and conduct u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b1a04ac52931170c8c6412d62f5a9af
https://doi.org/10.1002/jgc4.1119
https://doi.org/10.1002/jgc4.1119
Autor:
Jason D. Merker, Krishna M. Roskin, Dana Ng, Cuiping Pan, Dianna G. Fisk, Jasmine J. King, Ramona Hoh, Michael Stadler, Lawrence M. Okumoto, Parveen Abidi, Rhonda Hewitt, Carol D. Jones, Linda Gojenola, Michael J. Clark, Bing Zhang, Athena M. Cherry, Tracy I. George, Michael Snyder, Scott D. Boyd, James L. Zehnder, Andrew Z. Fire, Jason Gotlib
Publikováno v:
Haematologica, Vol 98, Iss 11 (2013)
In order to identify novel somatic mutations associated with classic BCR/ABL1-negative myeloproliferative neoplasms, we performed high-coverage genome sequencing of DNA from peripheral blood granulocytes and cultured skin fibroblasts from a patient w
Externí odkaz:
https://doaj.org/article/115e569bec7d49db8c8c73908b664b8b
Autor:
Elizabeth Spiteri, Linlin Shao, Yu Hou, Ming Hou, Jun Peng, Bing Zhang, Hai Zhou, Yanfeng Liu, James L. Zehnder, Dianna G. Fisk
Congenital macrothrombocytopenia is a genetically heterogeneous group of rare disorders. We herein report a large Chinese family presented with phenotypic variability involving thrombocytopenia and/or giant platelets. Whole genome sequencing (WGS) of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c133b0658b4f8b21409270d34c192855
Autor:
Shannon Rego, Shana White, Jennefer N. Kohler, Chloe M. Reuter, Megan E. Grove, Dianna G. Fisk, Matthew T. Wheeler, Devon Bonner, Kelly E. Ormond, Orit Dagan-Rosenfeld, Andrea Hanson-Kahn, Jonathan A. Bernstein
With the wide adoption of next-generation sequencing (NGS)-based genetic tests, genetic counselors require increased familiarity with NGS technology, variant interpretation concepts, and variant assessment tools. The use of exome and genome sequencin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e22d3a868b8cb19e767897180a4ad97a
https://europepmc.org/articles/PMC6456376/
https://europepmc.org/articles/PMC6456376/