A dyadic approach to the delineation of diagnostic entities in clinical genomics

Autor: Wen-Hann Tan, Małgorzata J.M. Nowaczyk, Joseph T. Shieh, Anne Slavotinek, John M. Graham, Lynne M. Bird, David D. Weaver, Laurie H. Seaver, Anne Amemiya, Ghayda Mirzaa, Beth A. Kozel, Jennifer M. Kalish, John C. Carey, Anita E. Beck, Margaret P. Adam, Bryan D. Hall, Philip F Giampietro, Kim M. Keppler-Noreuil, David A. Stevenson, Karen W. Gripp, Robin D. Clark, Mary Beth Dinulos, William B. Dobyns, Pedro A. Sanchez-Lara, Roberta A Pagon, Andrew K. Sobering, Michael J. Bamshad, Fowzan S. Alkuraya, Tiong Yang Tan, Brian H.Y. Chung, Alan F. Rope, Elaine H. Zackai, Marc S. Williams, John J. Mulvihill, James T. Bennett, Leslie G. Biesecker, Kyle Retterer, Yuri A. Zarate, Timothy C. Cox, Chad R. Haldeman-Englert, Anne C. Tsai, Ian A. Glass, Cynthia J. Curry, Kenjiro Kosaki, A. Micheil Innes, Katta M. Girisha, Cathy A. Stevens

Publikováno v: Am J Hum Genet
American journal of human genetics, vol 108, iss 1

The delineation of disease entities is complex, yet recent advances in the molecular characterization of diseases provide opportunities to designate diseases in a biologically valid manner. Here, we have formalized an approach to the delineation of M

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e76d16801e57a00cb72962d47706399
https://pubmed.ncbi.nlm.nih.gov/34478656

Genome-Wide Association Studies, Field Synopses, and the Development of the Knowledge Base on Genetic Variation and Human Diseases

Autor: Roberta A Pagon, Thomas R. O'Brien, Paolo Boffetta, Ryan P. Owen, Paolo Vineis, Muin J. Khoury, Jonine L. Bernstein, Julian P T Higgins, Adam S. Butterworth, A. Cecile J.W. Janssens, Daniela Seminara, Timothy R. Rebbeck, Helena Furberg, Lars Bertram, Stephen J. Chanock, Marta Gwinn, Siobhan M. Dolan, Anand Chockalingam, James M. Ostell, Harry Campbell, Deborah M. Winn, Julian Little, Isabel Fortier, Montserrat Garcia-Closas, Nathaniel Rothman, John P. A. Ioannidis, Paul Burton, Wei Yu

Publikováno v: American Journal of Epidemiology
American Journal of Epidemiology, 170(3), 269-279. Oxford University Press
Khoury, M J, Bertram, L, Boffetta, P, Butterworth, A S, Chanock, S J, Dolan, S M, Fortier, I, Garcia-Closas, M, Gwinn, M, Higgins, J P T, Janssens, A C J W, Ostell, J, Owen, R P, Pagon, R A, Rebbeck, T R, Rothman, N, Bernstein, J L, Burton, P R, Campbell, H, Chockalingam, A, Furberg, H, Little, J, O'Brien, T R, Seminara, D, Vineis, P, Winn, D M, Yu, W & Ioannidis, J P A 2009, ' Genome-Wide Association Studies, Field Synopses, and the Development of the Knowledge Base on Genetic Variation and Human Diseases ', American Journal of Epidemiology, vol. 170, no. 3, pp. 269-279 . https://doi.org/10.1093/aje/kwp119

Genome-wide association studies (GWAS) have led to a rapid increase in available data on common genetic variants and phenotypes and numerous discoveries of new loci associated with susceptibility to common complex diseases. Integrating the evidence f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a2adecc581a73238f9f8b1067730d71
http://europepmc.org/articles/PMC2714948

Ordering Molecular Genetic Tests and Reporting Results

Autor: Ira M. Lubin, Elaine Lyon, Roberta A Pagon, Margaret M. McGovern, Carolyn M. Constantin, Susan J. Gross, Jean Amos Wilson, Michele Caggana, Tracy L. Trotter

Publikováno v: The Journal of Molecular Diagnostics. 10:459-468

Previous studies have suggested that patient care may be compromised as a consequence of poor communication between clinicians and laboratory professionals in cases in which molecular genetic test results are reported. To understand better the contri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9b895eb8a79d129bf3a2b3effe555ac9
https://doi.org/10.2353/jmoldx.2008.080050

A Gender Assessment Team: experience with 250 patients over a period of 25 years

Autor: Kent E. Opheim, Melissa A. Parisi, Elizabeth McCauley, Richard E. Grady, Michael C. Carr, Mark W. Burns, Catherine Pihoker, Michael R. Soules, Roberta A Pagon, Michael E. Mitchell, Gail E. Richards, Daniel F. Gunther, Gadi B Kletter, Linda A. Ramsdell

Publikováno v: Genetics in Medicine. 9:348-357

Purpose: To describe a Gender Assessment Team that has provided a multidisciplinary approach to the diagnosis, medical and surgical treatment, genetic counseling, and psychosocial support of patients with ambiguous genitalia, intersex disorders, and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ba0650dfab5e97a7ed11ee250b4ff42
https://doi.org/10.1097/gim.0b013e3180653c47

Two novel fibrillin-2 mutations in congenital contractural arachnodactyly

Autor: Susan Belleh, Guimei Zhou, Vazken M. Der Kaloustian, Maurice Godfrey, Roberta A Pagon, Mei Wang

Publikováno v: American Journal of Medical Genetics. 92:7-12

Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder, comprising marfanoid habitus, flexion contractures, severe kyphoscoliosis, abnormal pinnae, and muscular hypoplasia. It is now known that mutations in t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f96e095f3d5ed8d170fe0032970764c
https://doi.org/10.1002/(sici)1096-8628(20000501)92:1<7::aid-ajmg2>3.0.co