Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Brian Bunke"'
Autor:
Yajuan Liu, Allen N. Lamb, Jeanne Meck, Zoe K Lewis, Jennifer N. Sanmann, Linda Haglund-Hazy, Brian Bunke, Denae M. Golden, Christin D. Collins, Marwan K. Tayeh, Erica F. Andersen, Cassandra K. Runke, Dimitri J. Stavropoulos, Whitney Neufeld-Kaiser, Emma Strong, Guang Li, Yao Shan Fan, Meng Su, Andrew Merz, McKinsey L. Goodenberger, Tristan Nelson, Todd Ackley, Christa Lese Martin, Erik C. Thorland, Danijela Krgovic, Erin Rooney Riggs, Morag N. Collinson, Nadja Kokalj Vokac
Publikováno v:
Hum Mutat
Conflict resolution in genomic variant interpretation is a critical step towards improving patient care. Evaluating interpretation discrepancies in copy number variants (CNVs) typically involves assessing overlapping genomic content with focus on gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::472f4808747a9db5a43076253ef88a52
https://europepmc.org/articles/PMC7374944/
https://europepmc.org/articles/PMC7374944/
Autor:
Christa Lese Martin, Donna L. Maney, Brian Bunke, Brent M. Horton, James W. Thomas, Yuchen Hu, Ignacio T. Moore, Beth Matthews
Publikováno v:
Behavior Genetics. 43:60-70
The white-throated sparrow is rapidly becoming an important model in the genetics of social behavior because of a chromosomal rearrangement that segregates with a behavioral phenotype. Within a population, 50 % of individuals are heterozygous for a r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f7d60aec0329f2761175d4a3ce60a40
https://doi.org/10.1007/s10519-012-9574-6
https://doi.org/10.1007/s10519-012-9574-6
Autor:
John A. Crolla, Justin Paschall, David H. Ledbetter, Morag N. Collinson, Ramaswamy K. Iyer, Vineith Kaul, Erin B. Kaminsky, Arthur R. Brothman, John G. Compton, Amy E. Fuller, Diane L. Pickering, Emily Aston, Todd Ackley, Stephen T. Warren, Erik C. Thorland, Sarah J. Beal, Shashirekha Shetty, Deanna M. Church, M. Katharine Rudd, Brian Bunke, Troy J. Gliem, Andres Moreno-De-Luca, Gabriele Richard, Daniel Moreno-De-Luca, Christa Lese Martin, Warren G. Sanger, Sarah T. South, Dawn Kunig, Heidi Whitby, Jennifer G. Mulle, Shuwen Huang, Swaroop Aradhya, Michael R. Rossi, Denae M. Golden
Publikováno v:
Genetics in Medicine. 13:777-784
Purpose: Copy number variants have emerged as a major cause of human disease such as autism and intellectual disabilities. Because copy number variants are common in normal individuals, determining the functional and clinical significance of rare cop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9599117d4d4b5c9274afa79f0f6715ab
https://doi.org/10.1097/gim.0b013e31822c79f9
https://doi.org/10.1097/gim.0b013e31822c79f9
Autor:
Erin B. Kaminsky, Julia A. Keene, Christa Lese Martin, M. Katharine Rudd, Jennifer G. Mulle, David H. Ledbetter, Margaret P Adam, Brian Bunke
Publikováno v:
Human Molecular Genetics. 18:2957-2962
Copy number studies have led to an explosion in the discovery of new segmental duplication-mediated deletions and duplications. We have analyzed copy number changes in 2419 patients referred for clinical array comparative genomic hybridization studie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::280d22fb3776415ee433eed0934166d9
https://doi.org/10.1093/hmg/ddp233
https://doi.org/10.1093/hmg/ddp233
Autor:
Brynn Levy, Christine M. Eng, Daniel H. Saltzman, Melissa Savage, Lisa G. Shaffer, Odelia Nahum, William A. Grobman, Vimla Aggarwal, Kimberly McCall, Lawrence D. Platt, Ronald J. Wapner, Elizabeth Thom, David H. Ledbetter, Blake C. Ballif, Ankita Patel, Christa Lese Martin, Susan Klugman, Joe Leigh Simpson, Allen N. Lamb, Arthur L. Beaudet, Thomas Scholl, Brian Bunke, Julia Zachary, Laird S. Jackson
Publikováno v:
Obstetrical & Gynecological Survey. 68:276-278
Background Chromosomal microarray analysis has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fad8665057f20e8a701f65557fddb72
https://doi.org/10.1097/01.ogx.0000429294.57890.b8
https://doi.org/10.1097/01.ogx.0000429294.57890.b8
Cleft palate is a frequent and recognizable birth defect attributed to a variety of etiologies including genetic abnormalities and environmental exposures. Bone morphogenetic proteins (BMPs) are involved in embryonic signaling important for a number
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::843b38e30034c844a3fa186cbd755628
https://europepmc.org/articles/PMC3448788/
https://europepmc.org/articles/PMC3448788/