Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Joshua L. Deignan"'
Autor:
Joshua L. Deignan, Vimla Aggarwal, Allen E. Bale, Daniel B. Bellissimo, Jessica K. Booker, Yang Cao, Kristy R. Crooks, Kristen L. Deak, Daniela Del Gaudio, Birgit Funke, Nicole L. Hoppman, Vanessa Horner, Robert B. Hufnagel, Colleen Jackson-Cook, Prasad Koduru, Marco L. Leung, Shibo Li, Pengfei Liu, Minjie Luo, Rong Mao, Heather Mason-Suares, Fady M. Mikhail, Stephen R. Moore, Rizwan C. Naeem, Laura M. Pollard, Elena A. Repnikova, Lina Shao, Brandon M. Shaw, Shashirekha Shetty, Teresa A. Smolarek, Elizabeth Spiteri, Jessica Van Ziffle, Gail H. Vance, Cindy L. Vnencak-Jones, Eli S. Williams
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101820- (2024)
Purpose: The specialty of Laboratory Genetics and Genomics (LGG) was created in 2017 in an effort to reflect the increasing convergence in technologies and approaches between clinical molecular genetics and clinical cytogenetics. However, there has n
Externí odkaz:
https://doaj.org/article/06de2e3b5f9244b89cae6954ab35c034
Autor:
Celeste C. Eno, Stacey K. Barton, Naghmeh Dorrani, Stephen D. Cederbaum, Joshua L. Deignan, Wayne W. Grody
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
Abstract Background Clinical care teams providing presymptomatic genetic testing often employ advanced confidentiality practices for documentation and result storage. However, patient requests for increased confidentiality may be in conflict with the
Externí odkaz:
https://doaj.org/article/bafc9efa85524071b75dd2c173780e80
Autor:
Anne Sigaard Bie, Paula Fernandez-Guerra, Rune Isak Dupont Birkler, Shahar Nisemblat, Dita Pelnena, Xinping Lu, Joshua L. Deignan, Hane Lee, Naghmeh Dorrani, Thomas Juhl Corydon, Johan Palmfeldt, Liga Bivina, Abdussalam Azem, Kristin Herman, Bross Peter
Publikováno v:
Frontiers in Molecular Biosciences, Vol 3 (2016)
We here report molecular investigations of a missense mutation in the HSPE1 gene encoding the HSP10 subunit of the HSP60/ HSP10 chaperonin complex that assists protein folding in the mitochondrial matrix. The mutation was identified in an infant who
Externí odkaz:
https://doaj.org/article/9e7c8d363c77454eaff22d3e14494621
Autor:
Joshua L. Deignan, Mauricio De Castro, Vanessa L. Horner, Tami Johnston, Daniela Macaya, Joseph J. Maleszewski, Honey V. Reddi, Marwan K. Tayeh
Publikováno v:
Genetics in Medicine. 25:100017
Autor:
Jeffrey N. Weitzel, Elizabeth C. Chao, Caroline Astbury, Honey V. Reddi, Melissa Pronold, Joshua L. Deignan
Publikováno v:
Genetics in Medicine. 23:1179-1184
Autor:
Gordana, Raca, Caroline, Astbury, Andrea, Behlmann, Mauricio J, De Castro, Scott E, Hickey, Ender, Karaca, Chelsea, Lowther, Erin Rooney, Riggs, Bryce A, Seifert, Erik C, Thorland, Joshua L, Deignan
Publikováno v:
Genetics in Medicine. 25:100316
Autor:
Daniela del Gaudio, Garry R. Cutting, Caroline Astbury, Kristin G. Monaghan, Anthony R. Gregg, Joshua L. Deignan, Wayne W. Grody, Sue Richards
Publikováno v:
Genet Med
Pathogenic variants in the CFTR gene are causative of classic cystic fibrosis (CF) as well as some nonclassic CF phenotypes. In 2001, CF became the first target of pan-ethnic universal carrier screening by molecular methods. The American College of M
Autor:
Mamdouh Aker, Donna M. Muzny, Jessica E. Rexach, Kathie J. Ngo, Brent L. Fogel, Eric Boerwinkle, Gemma Poke, James R. Lupski, Michael D. Geschwind, Yuanming Mao, Hane Lee, Alexandra B. Nelson, Stanley F. Nelson, Katherine Neas, Jennifer E. Posey, Sharon Hassin-Baer, Juliana M. Valera, Zeynep Coban-Akdemir, Joshua L. Deignan, Wayne W. Grody, Richard A. Gibbs, Jennifer E. Below, Lauren E. Petty, Daniel H. Geschwind, Shalini N. Jhangiani, Susan Perlman
Publikováno v:
Hum Mutat
Human mutation, vol 41, iss 2
Human mutation, vol 41, iss 2
Genetic ataxias are associated with mutations in hundreds of genes with high phenotypic overlap complicating the clinical diagnosis. Whole-exome sequencing (WES) has increased the overall diagnostic rate considerably. However, the upper limit of this
Publikováno v:
Molecular Diagnosis & Therapy
Novel gene-disease discoveries, rapid advancements in technology, and improved bioinformatics tools all have the potential to yield additional molecular diagnoses through the reanalysis of exome sequencing data. Collaborations between clinical labora
Autor:
Elizabeth C. Chao, Scott Topper, Joshua L. Deignan, Kelly D. Farwell Hagman, Jennifer L. Gannon, Henry T. Greely, Rong Mao
Publikováno v:
Genetics in Medicine. 22:1285-1287