Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Shimul, Chowdhury"'
Autor:
Ana Maria Rodriguez, Katherine Schain, Parul Jayakar, Meredith S. Wright, Shimul Chowdhury, Daria Salyakina
Publikováno v:
Clinical Case Reports, Vol 11, Iss 8, Pp n/a-n/a (2023)
Key Clinical Message We report two, genotypically identical but phenotypically distinct cases of Schaaf‐Yang syndrome and propose the early use of Genome Sequencing in patients with nonspecific presentations to facilitate the early diagnosis of chi
Externí odkaz:
https://doaj.org/article/05e06569fdec4dc7b581d9e063ad1424
Autor:
Mallory J. Owen, Sebastien Lefebvre, Christian Hansen, Chris M. Kunard, David P. Dimmock, Laurie D. Smith, Gunter Scharer, Rebecca Mardach, Mary J. Willis, Annette Feigenbaum, Anna-Kaisa Niemi, Yan Ding, Luca Van Der Kraan, Katarzyna Ellsworth, Lucia Guidugli, Bryan R. Lajoie, Timothy K. McPhail, Shyamal S. Mehtalia, Kevin K. Chau, Yong H. Kwon, Zhanyang Zhu, Sergey Batalov, Shimul Chowdhury, Seema Rego, James Perry, Mark Speziale, Mark Nespeca, Meredith S. Wright, Martin G. Reese, Francisco M. De La Vega, Joe Azure, Erwin Frise, Charlene Son Rigby, Sandy White, Charlotte A. Hobbs, Sheldon Gilmer, Gail Knight, Albert Oriol, Jerica Lenberg, Shareef A. Nahas, Kate Perofsky, Kyu Kim, Jeanne Carroll, Nicole G. Coufal, Erica Sanford, Kristen Wigby, Jacqueline Weir, Vicki S. Thomson, Louise Fraser, Seka S. Lazare, Yoon H. Shin, Haiying Grunenwald, Richard Lee, David Jones, Duke Tran, Andrew Gross, Patrick Daigle, Anne Case, Marisa Lue, James A. Richardson, John Reynders, Thomas Defay, Kevin P. Hall, Narayanan Veeraraghavan, Stephen F. Kingsmore
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
Rapid diagnosis and implementation of treatments is crucial in many genetic conditions. Here the authors describe Genome-to-Treatment, a virtual disease management system that can achieve a rapid diagnosis by expedited whole genome sequencing in 13.5
Externí odkaz:
https://doaj.org/article/c8a8f4d045b24f4586c6fb67d44e877e
Autor:
Christina A. Austin-Tse, Vaidehi Jobanputra, Denise L. Perry, David Bick, Ryan J. Taft, Eric Venner, Richard A. Gibbs, Ted Young, Sarah Barnett, John W. Belmont, Nicole Boczek, Shimul Chowdhury, Katarzyna A. Ellsworth, Saurav Guha, Shashikant Kulkarni, Cherisse Marcou, Linyan Meng, David R. Murdock, Atteeq U. Rehman, Elizabeth Spiteri, Amanda Thomas-Wilson, Hutton M. Kearney, Heidi L. Rehm, Medical Genome Initiative
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-13 (2022)
Abstract Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients with rare genetic disorders. However, standards addressing the definition and deployment practice of a best-in-class test are lacking. To address these
Externí odkaz:
https://doaj.org/article/6905d648dde247ee8ce993083466d75f
Autor:
Francisco M. De La Vega, Shimul Chowdhury, Barry Moore, Erwin Frise, Jeanette McCarthy, Edgar Javier Hernandez, Terence Wong, Kiely James, Lucia Guidugli, Pankaj B. Agrawal, Casie A. Genetti, Catherine A. Brownstein, Alan H. Beggs, Britt-Sabina Löscher, Andre Franke, Braden Boone, Shawn E. Levy, Katrin Õunap, Sander Pajusalu, Matt Huentelman, Keri Ramsey, Marcus Naymik, Vinodh Narayanan, Narayanan Veeraraghavan, Paul Billings, Martin G. Reese, Mark Yandell, Stephen F. Kingsmore
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Abstract Background Clinical interpretation of genetic variants in the context of the patient’s phenotype is becoming the largest component of cost and time expenditure for genome-based diagnosis of rare genetic diseases. Artificial intelligence (A
Externí odkaz:
https://doaj.org/article/545b7929230945e99d451a6eb1004bfb
Autor:
Andrew Ng, Serena Galosi, Lisa Salz, Terence Wong, Caitlin Schwager, Shivarajan Amudhavalli, Rose Gelineau-Morel, Shimul Chowdhury, on behalf of Rady Children’s Institute for Genomic Medicine Investigators, Jennifer Friedman
Publikováno v:
BMC Neurology, Vol 20, Iss 1, Pp 1-6 (2020)
Abstract Background KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detaili
Externí odkaz:
https://doaj.org/article/211965e9a0db43ff95c127867f618eb6
Autor:
Erica Sanford Kobayashi, Bryce Waldman, Branden M. Engorn, Katherine Perofsky, Erika Allred, Benjamin Briggs, Chelsea Gatcliffe, Nanda Ramchandar, Jeffrey J. Gold, Ami Doshi, Elizabeth G. Ingulli, Courtney D. Thornburg, Wendy Benson, Lauge Farnaes, Shimul Chowdhury, Seema Rego, Charlotte Hobbs, Stephen F. Kingsmore, David P. Dimmock, Nicole G. Coufal
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2022)
The diagnostic and clinical utility of rapid whole genome sequencing (rWGS) for critically ill children in the intensive care unit (ICU) has been substantiated by multiple studies, but comprehensive cost-effectiveness evaluation of rWGS in the ICU ou
Externí odkaz:
https://doaj.org/article/e4d764dcb81347038e600251a1741c59
Autor:
Sejal Kadakia, Lauge Farnaes, David Dimmock, Shimul Chowdhury, Yan Ding, Eric J. Anderson, Stephen Kingsmore, Ron S. Newfield
Publikováno v:
Clinical Case Reports, Vol 7, Iss 11, Pp 2123-2127 (2019)
Abstract IPEX syndrome (Immune dysregulation, Polyendocrinopathy, X‐linked) should be tested for in males under 6 months old presenting with diabetes, even without other IPEX features. Early diagnosis and bone marrow transplantation can improve out
Externí odkaz:
https://doaj.org/article/8b05bae1ade848c985145b8906ce1512
Autor:
Jennifer Friedman, Lynne M. Bird, Richard Haas, Shira L. Robbins, Shareef A. Nahas, David P. Dimmock, Matthew J. Yousefzadeh, Mariah A. Witt, Laura J. Niedernhofer, Shimul Chowdhury
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 7, Pp n/a-n/a (2021)
ABSTRACT Background Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by growth failure and multisystemic degeneration. Excision repair cross‐complementation group 6 (ERCC6 OMIM: *609413) is the gene most frequently mutate
Externí odkaz:
https://doaj.org/article/8adc526922e441619f5e782f3745aa77
Autor:
Jennifer Friedman, Desiree E. Smith, Mahmoud Y. Issa, Valentina Stanley, Rengang Wang, Marisa I. Mendes, Meredith S. Wright, Kristen Wigby, Amber Hildreth, John R. Crawford, Alanna E. Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing-Sze Lo, Kiely N. James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T. Tran, Tarek E. I. Omar, Tawfeg Ben-Omran, David Dimmock, Stephen F. Kingsmore, Gajja S. Salomons, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Valyl-tRNA synthetase (VARS) charges valyl-tRNA with the amino acid valine, required for translation. Here, the authors describe a progressive epileptic encephalopathy in individuals from five families carrying biallelic mutations in the VARS gene th
Externí odkaz:
https://doaj.org/article/2b11aa05a4174343ac7596764303089f
Autor:
Hratch Baghdassarian, Sarah A. Blackstone, Owen S. Clay, Rachael Philips, Brynja Matthiasardottir, Michele Nehrebecky, Vivian K. Hua, Rachael McVicar, Yang Liu, Suzanne M. Tucker, Davide Randazzo, Natalie Deuitch, Sofia Rosenzweig, Adam Mark, Roman Sasik, Kathleen M. Fisch, Pallavi Pimpale Chavan, Elif Eren, Norman R. Watts, Chi A. Ma, Massimo Gadina, Daniella M. Schwartz, Anwesha Sanyal, Giffin Werner, David R. Murdock, Nobuyuki Horita, Shimul Chowdhury, David Dimmock, Kristen Jepsen, Elaine F. Remmers, Raphaela Goldbach-Mansky, William A. Gahl, John J. O’Shea, Joshua D. Milner, Nathan E. Lewis, Johanna Chang, Daniel L. Kastner, Kathryn Torok, Hirotsugu Oda, Christopher D. Putnam, Lori Broderick
Publikováno v:
New England Journal of Medicine.