Zobrazeno 1 - 10
of 296
pro vyhledávání: '"Douglas R Stewart"'
Autor:
Hormuzd A. Katki, Sonja I. Berndt, Mitchell J. Machiela, Douglas R. Stewart, Montserrat Garcia-Closas, Jung Kim, Jianxin Shi, Kai Yu, Nathaniel Rothman
Publikováno v:
BMC Medical Research Methodology, Vol 23, Iss 1, Pp 1-11 (2023)
Abstract Background The rule of thumb that there is little gain in statistical power by obtaining more than 4 controls per case, is based on type-1 error α = 0.05. However, association studies that evaluate thousands or millions of associations use
Externí odkaz:
https://doaj.org/article/bd7386a1b9c44bb5b7f00af13cfc3223
Autor:
Jung Kim, Jeremy Haley, Jessica N. Hatton, Uyenlinh L. Mirshahi, H. Shanker Rao, Mark F. Ramos, Diane Smelser, Gretchen M. Urban, Kris Ann P. Schultz, David J. Carey, Douglas R. Stewart
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101846- (2024)
Purpose: Population-scale, exome-sequenced cohorts with linked electronic health records (EHR) permit genome-first exploration of phenotype. Phenotype and cancer risk are well characterized in children with a pathogenic DICER1 (HGNC ID:17098) variant
Externí odkaz:
https://doaj.org/article/d0ec4b14921545f3b4f169c60f7ae7da
Autor:
Kelvin C. de Andrade, Natasha T. Strande, Jung Kim, Jeremy S. Haley, Jessica N. Hatton, Megan N. Frone, Payal P. Khincha, Gretchen M. Thone, Uyenlinh L. Mirshahi, Cynthia Schneider, Heena Desai, James T. Dove, Diane T. Smelser, Arnold J. Levine, Kara N. Maxwell, Douglas R. Stewart, David J. Carey, Sharon A. Savage
Publikováno v:
HGG Advances, Vol 5, Iss 1, Pp 100242- (2024)
Summary: Pathogenic or likely pathogenic (P/LP) germline TP53 variants are the primary cause of Li-Fraumeni syndrome (LFS), a hereditary cancer predisposition disorder characterized by early-onset cancers. The population prevalence of P/LP germline T
Externí odkaz:
https://doaj.org/article/addc5e489bb345e3861d80415655e2ce
Autor:
Julio C. Ricarte-Filho, Victoria Casado-Medrano, Erin Reichenberger, Zachary Spangler, Michele Scheerer, Amber Isaza, Julia Baran, Tasleema Patel, Suzanne P. MacFarland, Garrett M. Brodeur, Douglas R. Stewart, Zubair Baloch, Andrew J. Bauer, Jonathan D. Wasserman, Aime T. Franco
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
DICER1 is a highly conserved RNase III endoribonuclease essential for the biogenesis of single-stranded mature microRNAs (miRNAs) from stem-loop precursor miRNAs. Somatic mutations in the RNase IIIb domain of DICER1 impair its ability to generate mat
Externí odkaz:
https://doaj.org/article/3431019e8d2449dcababb11b49f65c34
Autor:
Jung Kim, Danielle M Karyadi, Stephen W Hartley, Bin Zhu, Mingyi Wang, Dongjing Wu, Lei Song, Gregory T Armstrong, Smita Bhatia, Leslie L Robison, Yutaka Yasui, Brian Carter, Joshua N Sampson, Neal D Freedman, Alisa M Goldstein, Lisa Mirabello, Stephen J Chanock, Lindsay M Morton, Sharon A Savage, Douglas R Stewart
Publikováno v:
PLoS ONE, Vol 18, Iss 1, p e0280951 (2023)
The use of publicly available sequencing datasets as controls (hereafter, "public controls") in studies of rare variant disease associations has great promise but can increase the risk of false-positive discovery. The specific factors that could cont
Externí odkaz:
https://doaj.org/article/642131f437b34ce39db4400b1058a400
Autor:
Lauren M. Vasta, Alison Nichols, Laura A. Harney, Ana F. Best, Ann G. Carr, Anne K. Harris, Markku Miettinen, Kris Ann P. Schultz, Hung Jeffrey Kim, Douglas R. Stewart
Publikováno v:
Rhinology Online, Vol 3, Pp 15-24 (2020)
Background: Nasal chondromesenchymal hamartomas are benign, rare nasal tumors associated with DICER1 pathogenic germ-line variation. They can be locally destructive and recurrent if not completely resected. Methodology: In this single-center, case-co
Externí odkaz:
https://doaj.org/article/b172e575cdc8420aa3eaf0ef7dc0e837
Autor:
Jung Kim, Wen Luo, Mingyi Wang, Talia Wegman-Ostrosky, Megan N. Frone, Jennifer J. Johnston, Michael L. Nickerson, Melissa Rotunno, Shengchao A. Li, Maria I. Achatz, Seth A. Brodie, Michael Dean, Kelvin C. de Andrade, Fernanda P. Fortes, Matthew Gianferante, Payal Khincha, Mary L. McMaster, Lisa J. McReynolds, Alexander Pemov, Maisa Pinheiro, Karina M. Santiago, Blanche P. Alter, Neil E. Caporaso, Shahinaz M. Gadalla, Lynn R. Goldin, Mark H. Greene, Jennifer Loud, Xiaohong R. Yang, Neal D. Freedman, Susan M. Gapstur, Mia M. Gaudet, Donato Calista, Paola Ghiorzo, Maria Concetta Fargnoli, Eduardo Nagore, Ketty Peris, Susana Puig, Maria Teresa Landi, Belynda Hicks, Bin Zhu, Jia Liu, Joshua N. Sampson, Stephen J. Chanock, Lisa J. Mirabello, Lindsay M. Morton, Leslie G. Biesecker, Margaret A. Tucker, Sharon A. Savage, Alisa M. Goldstein, Douglas R. Stewart
Publikováno v:
Genome Medicine, Vol 10, Iss 1, Pp 1-9 (2018)
Abstract Background Prior research has established that the prevalence of pathogenic/likely pathogenic (P/LP) variants across all of the American College of Medical Genetics (ACMG) Secondary Findings (SF) genes is approximately 0.8–5%. We investiga
Externí odkaz:
https://doaj.org/article/f8d664b0a6b34bb18931cda5ffb1397c
Autor:
Esteban Astiazaran-Symonds, Gina M. Ney, Cecilia Higgs, Leatrisse Oba, Radhika Srivastava, Alicia A. Livinski, Philip S. Rosenberg, Douglas R. Stewart
Publikováno v:
British Journal of Cancer. 128:2089-2096
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5195e9db78bdf589816857fb5dc5ba23
https://doi.org/10.1038/s41416-023-02229-7
https://doi.org/10.1038/s41416-023-02229-7
Autor:
Heejong Sung, Paula L. Hyland, Alexander Pemov, Jeremy A. Sabourin, Andrea M. Baldwin, Sara Bass, Kedest Teshome, Wen Luo, Frederick National Laboratory for Cancer Research, Brigitte C. Widemann, Douglas R. Stewart, Alexander F. Wilson
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Abstract Background Neurofibromatosis type 1 (NF1) is a tumor‐predisposition disorder that arises due to pathogenic variants in tumor suppressor NF1. NF1 has variable expressivity that may be due, at least in part, from heritable elements such as m
Externí odkaz:
https://doaj.org/article/17792bc32bad4f81bd67a76bee9e01e4
Autor:
Louise C. Pyle, Jung Kim, Jonathan Bradfield, Scott M. Damrauer, Kurt D'Andrea, Lawrence H. Einhorn, Rama Godse, Hakon Hakonarson, Peter A. Kanetsky, Rachel L. Kember, Linda A. Jacobs, Kara N. Maxwell, Daniel J. Rader, David J. Vaughn, Benita Weathers, Bradley Wubbenhorst, null Regeneron Genetics Center Research Team, null Cancer Genomics Research Laboratory, Mark H. Greene, Katherine L. Nathanson, Douglas R. Stewart
Publikováno v:
European Urology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f08de52b731ff592a8f26929a5c61edb
https://doi.org/10.1016/j.eururo.2023.05.008
https://doi.org/10.1016/j.eururo.2023.05.008