Results 11 to 20 of about 6,062,135 (332)

The 2019 US medical genetics workforce: a focus on clinical genetics

Genetics in Medicine, 2021
This study characterizes the US clinical genetics workforce to inform workforce planning and public policy development. A 32-question survey was electronically distributed to American Board of Medical Genetics and Genomics board-certified/eligible ...
Brittany D. Jenkins, Catherine G. Fischer, Courtney Polito, Deborah R. Maiese, Alisha Keehn, Megan Lyon, M. Edick, Matthew R Taylor, H. Andersson, J. Bodurtha, M. Blitzer, M. Muenke, M. Watson   +12 more
semanticscholar   +1 more source

A structural variation reference for medical and population genetics

Nature, 2020
Structural variants (SVs) rearrange large segments of DNA1 and can have profound consequences in evolution and human disease2,3. As national biobanks, disease-association studies, and clinical genetic testing have grown increasingly reliant on genome ...
Ryan L. Collins, H. Brand, K. Karczewski, Xuefang Zhao, Jessica Alföldi, L. Francioli, A. Khera, Chelsea Lowther, L. Gauthier, Harold Wang, N. Watts, M. Solomonson, Alexander Baumann, Ruchi Munshi, Mark Walker, Christopher W. Whelan, Yongqing Huang, Ted Brookings, Ted Sharpe, M. Stone, E. Valkanas, Jack M. Fu, G. Tiao, Kristen M. Laricchia, Valentín Ruano-Rubio, C. Stevens, N. Gupta, C. Cusick, L. Margolin, Irina M. Armean, E. Banks, L. Bergelson, K. Cibulskis, K. Connolly, Miguel Covarrubias, Beryl B. Cummings, M. Daly, S. Donnelly, Y. Farjoun, S. Ferriera, S. Gabriel, Jeff Gentry, Thibault Jeandet, D. Kaplan, Christopher Llanwarne, E. Minikel, B. Neale, Sam Novod, A. O’Donnell-Luria, Nikelle Petrillo, T. Poterba, David Roazen, A. Saltzman, K. Samocha, Molly Schleicher, C. Seed, José Soto, Kathleen M. Tibbetts, C. Tolonen, C. Vittal, Gordon Wade, Arcturus Wang, Qingbo S. Wang, J. Ware, B. Weisburd, N. Whiffin, C. Salinas, Tariq Ahmad, C. Albert, D. Ardissino, G. Atzmon, J. Barnard, L. Beaugerie, E. Benjamin, M. Boehnke, L. Bonnycastle, E. Bottinger, D. Bowden, M. Bown, J. Chambers, J. Chan, D. Chasman, Judy H. Cho, M. Chung, Bruce Cohen, A. Correa, D. Dabelea, D. Darbar, R. Duggirala, J. Dupuis, P. Ellinor, R. Elosúa, J. Erdmann, T. Esko, M. Färkkilä, J. Florez, A. Franke, G. Getz, Benjamin Glaser, S. Glatt, David B. Goldstein, Clicerio Gonzalez, L. Groop, Christopher A. Haiman, Craig Hanis, Matthew Harms, M. Hiltunen, M. Holi, C. Hultman, M. Kallela, J. Kaprio, S. Kathiresan, Bong-Jo Kim, Y. J. Kim, G. Kirov, J. Kooner, S. Koskinen, H. Krumholz, S. Kugathasan, S. Kwak, M. Laakso, T. Lehtimäki, R. Loos, S. Lubitz, Ronald C. W. Ma, D. MacArthur, J. Marrugat, K. Mattila, S. Mccarroll, M. McCarthy, D. McGovern, R. McPherson, J. Meigs, O. Melander, A. Metspalu, P. M. Nilsson, M. O’Donovan, D. Öngür, L. Orozco, M. Owen, C. Palmer, A. Palotie, K. Park, C. Pato, A. Pulver, N. Rahman, A. Remes, J. Rioux, S. Ripatti, D. Roden, D. Saleheen, V. Salomaa, N. Samani, J. Scharf, H. Schunkert, M. B. Shoemaker, P. Sklar, H. Soininen, H. Sokol, T. Spector, P. Sullivan, J. Suvisaari, E. Tai, Y. Teo, Tuomi Tiinamaija, Ming Tsuang, D. Turner, Teresa Tusié-Luna, E. Vartiainen, H. Watkins, R. Weersma, M. Wessman, James G. Wilson, R. Xavier, K. Taylor, Henry J. Lin, S. Rich, W. Post, Y. Chen, J. Rotter, C. Nusbaum, A. Philippakis, E. Lander, M. Talkowski   +183 more
semanticscholar   +1 more source

THE ROLE OF GENETICS IN MODERN MEDICINE

Байкальский медицинский журнал, 2022
The lecture examines the role of modern genetics and its significance for medicine. The goals of genetics and its structure are determined. It is shown that modern medical genetics is divided into general genetics, clinical genetics and laboratory ...
Elena Anatolyevna Tkachuk, Igor Zhanovich Seminsky   +1 more
doaj   +1 more source

Competency Profile in Genetics for Physicians in Brazil: A Proposal of the Brazilian Society of Medical Genetics and Genomics [PDF]

Revista Brasileira de Educação Médica, 2020
Training in genetics is fundamental to understanding the biological aspects of the health-disease binomial. Moreover, with the change in the epidemiological profile, genetically determined disorders have become more relevant as a public health concern ...
Débora Gusmão Melo, André Anjos da Silva, Antonette Souto El Husny, Victor Evangelista de Faria Ferraz   +3 more
doaj   +3 more sources

Increasing confidence and changing behaviors in primary care providers engaged in genetic counselling. [PDF]

, 2017
BackgroundScreening and counseling for genetic conditions is an increasingly important part of primary care practice, particularly given the paucity of genetic counselors in the United States.
A Cull, A Schwartz, AO Berg, CA Bellcross, CA Bellcross, CE Franz, CS Skinner, D Kegelaers, DK Sokol, EJ Houwink, EJ Houwink, Erik Lehman, Frank C. Day, FS Collins, Haley McDermott, HJ Baer, J Mancini, JC Carroll, KF Trivers, M Paneque, M Srinivasan, MD Schwartz, Michael J. Green, Michael S. Wilkes, MJ Green, MJ Novak, ML Rinke, NA Mikat-Stevens, PO Ozuah, R Grol, RA Bell, RM Epstein, RM Hoffman, Robert A. Bell, S Appleton, T Pal, TJ Leonarczyk, Tonya L. Fancher, V Rahimzadeh, VA Moyer, W Burke, W Burke, YR Cukier   +42 more
core   +1 more source

Cis and Trans Effects of Human Genomic Variants on Gene Expression [PDF]

, 2014
This work was funded by the Louis-Jeantet Foundation (http://www.jeantet.ch/), the European Research Council (Grant ID: 260927 http://erc.europa.eu/), the Swiss National Foundation (Grant ID: 130342 http://www.snf.ch), NCCR Frontiers In Genetics (http ...
A Boyd, AC Nica, AC Nica, AH Talukder, Alfonso Buil, AR Wood, AS Dimas, BE Stranger, BE Stranger, BU Schraml, C Wallace, Christopher David Brown, David M. Evans, DF Conrad, DJ Gaffney, DL Nicolae, DM Greenawalt, Donald F. Conrad, E Grundberg, E Klopocki, EE Schadt, Emmanouil T. Dermitzakis, George Davey Smith, GR Abecasis, H Huang, HJ Westra, J Ding, J Millstein, J Zhu, JD Storey, JE Powell, JK Pickrell, John P. Kemp, Julien Bryois, K Hildner, Karen M. Ho, LA Hindorff, M Gutierrez-Arcelus, M Scutari, Matthew Hurles, ND Miller, NL Barbosa-Morais, Panos Deloukas, RW Jones, SB Montgomery, SB Montgomery, SJ Loughran, Stephen B. Montgomery, Susan Ring, T Lappalainen, TR Insel, W Wang, Y Li, Y Li   +53 more
core   +5 more sources

Aplicación de la genética de poblaciones en el ámbito de la medicina

Biomédica: revista del Instituto Nacional de Salud, 2014
Las poblaciones humanas obedecen a los mismos supuestos evolutivos que el resto de los organismos, aunque mezclados con elementos sociales y culturales que pueden promover la expresión de ciertas enfermedades en grupos étnicos específicos, causadas ...
Pablo Octavio-Aguilar, Josefina Ramos-Frías   +1 more
doaj   +1 more source

Exon Sequencing of HNF1β in Chinese Patients with Early-Onset Diabetes [PDF]

Diabetes & Metabolism Journal
Background Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population.
Siqian Gong, Hong Lian, Yating Li, Xiaoling Cai, Wei Liu, Yingying Luo, Meng Li, Si-min Zhang, Rui Zhang, Lingli Zhou, Yu Zhu, Qian Ren, Xiuying Zhang, Jing Chen, Jing Wu, Xianghai Zhou, Xirui Wang, Xueyao Han, Linong Ji   +18 more
doaj   +1 more source

Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Genetics in Medicine, 2019
Copy-number analysis to detect disease-causing losses and gains across the genome is recommended for the evaluation of individuals with neurodevelopmental disorders and/or multiple congenital anomalies, as well as for fetuses with ultrasound ...
E. Riggs, Erica F Andersen, A. Cherry, S. Kantarci, H. Kearney, Ankita Patel, G. Raca, D. Ritter, S. South, E. Thorland, D. Pineda-Alvarez, S. Aradhya, C. Martin   +12 more
semanticscholar   +1 more source

The early history of medical genetics in Canada [PDF]

, 2004
This article shows that the intellectual and specialist movements that supported the growth of medical genetics in Canada between 1947 and 1990 were emergent phenomena, created, split, and reattached to different groups of actors, and reconfigured ...
Leeming, William
core   +1 more source