Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Lora J H, Bean"'
Autor:
Benjamin L. Rambo-Martin, Jennifer G. Mulle, David J. Cutler, Lora J. H. Bean, Tracie C. Rosser, Kenneth J. Dooley, Clifford Cua, George Capone, Cheryl L. Maslen, Roger H. Reeves, Stephanie L. Sherman, Michael E. Zwick
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 8, Iss 1, Pp 105-111 (2018)
One in five people with Down syndrome (DS) are born with an atrioventricular septal defect (AVSD), an incidence 2000 times higher than in the euploid population. The genetic loci that contribute to this risk are poorly understood. In this study, we t
Externí odkaz:
https://doaj.org/article/8f37a331bf2240fa9a20fe92eb8f7945
Autor:
Lora J. H. Bean, Madhuri R. Hegde
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-3 (2017)
Abstract Clinical genetics laboratories have recently adopted guidelines for the interpretation of sequence variants set by the American College of Medical Genetics (ACMG) and Association for Molecular Pathology (AMP). The use of in silico algorithms
Externí odkaz:
https://doaj.org/article/bad6672e95cd4878915f738dd743f7d8
Autor:
Lisa M. Vincent, Elizabeth C. Chao, Vandana Shashi, Heidi L. Rehm, Catherine Rehder, Soma Das, Julianne M. O’Daniel, Lora J. H. Bean, Wendy K. Chung, David P. Bick
Publikováno v:
Genetics in Medicine. 23:1399-1415
Next-generation sequencing (NGS) technologies are now established in clinical laboratories as a primary testing modality in genomic medicine. These technologies have reduced the cost of large-scale sequencing by several orders of magnitude. It is now
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::af33d386705064acdd9854013d95f988
https://doi.org/10.1038/s41436-021-01139-4
https://doi.org/10.1038/s41436-021-01139-4
Autor:
Kristin G. Monaghan, Michael F. Murray, Robert C. Green, Lora J. H. Bean, Tracy L. Trotter, Maren T. Scheuner, Leslie G. Biesecker, Michael S. Watson, Cynthia M. Powell, Glenn E. Palomaki, Richard R. Sharp
Publikováno v:
Genetics in Medicine. 23:979-988
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::82420bf39be9122587af3b0394d170c5
https://doi.org/10.1038/s41436-020-01083-9
https://doi.org/10.1038/s41436-020-01083-9
Autor:
Pinar Bayrak-Toydemir, Jennifer L. Gannon, Sibel Kantarci, Bryan L. Krock, Colleen Carlston, Shulin Zhang, Lora J. H. Bean, Birgit Funke
Publikováno v:
Genetics in Medicine. 22:453-461
Gene sequencing panels are a powerful diagnostic tool for many clinical presentations associated with genetic disorders. Advances in DNA sequencing technology have made gene panels more economical, flexible, and efficient. Because the genes included
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1beced9762eb0f7a848a4ef3793c3c45
https://doi.org/10.1038/s41436-019-0666-z
https://doi.org/10.1038/s41436-019-0666-z
Autor:
Patricia A. Ward, Lindsey Mighion, Jerry Machado, Rong Mao, Celeste Eno, Kelly D. Farwell Hagman, Dima El-Khechen, Jane Juusola, Lora J. H. Bean, Alicia Braxton, Pinar Bayrak-Toydemir, Heidi L. Rehm, Amy Lovelette Hernandez, Gina Londre, Bethany Friedman, Elizabeth C. Chao, Edward D. Esplin, Joshua L. Deignan, Tina Hambuch
Publikováno v:
Genetics in Medicine. 21:861-866
Clinical laboratories performing exome or genome sequencing (ES/GS) are familiar with the challenges associated with proper consenting for and reporting of medically actionable secondary findings based on recommendations from the American College of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72735f395699c6d09abcfbb91180da43
https://doi.org/10.1038/s41436-018-0265-4
https://doi.org/10.1038/s41436-018-0265-4
Autor:
Tiffany Renee Oliver, Candace D Middlebrooks, Stuart W Tinker, Emily Graves Allen, Lora J H Bean, Ferdouse Begum, Eleanor Feingold, Reshmi Chowdhury, Vivian Cheung, Stephanie L Sherman
Publikováno v:
PLoS ONE, Vol 9, Iss 6, p e99560 (2014)
Trisomy 21, resulting in Down Syndrome (DS), is the most common autosomal trisomy among live-born infants and is caused mainly by nondisjunction of chromosome 21 within oocytes. Risk factors for nondisjunction depend on the parental origin and type o
Externí odkaz:
https://doaj.org/article/4dfaa2cbb5d54f1e8ee39c1a21c88da9
Autor:
Randall Beadling, Cristina da Silva, Matthew B. Harms, Tahseen Mozaffar, Zachary Whitt, Laura E. Rufibach, John J. Alexander, Matthew Wicklund, Syed Hussain Askree, Christin D. Collins, Lora J. H. Bean, Rashna S Dastur, Arunkanth Ankala, Samya Chakravorty, Plavi Mittal, Satish V Khadilkar, Akanchha Kesari, Pradnya S Gaitonde, Alice K. Tanner, Madhuri Hegde, Babi Ramesh Reddy Nallamilli, Thomas Schneider
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of clinical and translational neurology, vol 5, iss 12
Annals of clinical and translational neurology, vol 5, iss 12
Author(s): Nallamilli, Babi Ramesh Reddy; Chakravorty, Samya; Kesari, Akanchha; Tanner, Alice; Ankala, Arunkanth; Schneider, Thomas; da Silva, Cristina; Beadling, Randall; Alexander, John J; Askree, Syed Hussain; Whitt, Zachary; Bean, Lora; Collins,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f38c102c2daccf0e20be92c7be195a62
https://doi.org/10.1002/acn3.649
https://doi.org/10.1002/acn3.649
Autor:
Yan Zhang, Michael J. Gambello, Hong Li, H. Eric Xu, Doris Fadoju, Rani H. Singh, Lora J. H. Bean, Yong Xu, Lihua Zhao, J. Nina Ham
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 17, Iss, Pp 46-52 (2018)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Glucagon receptor (GCGR) defect (Mahvash disease) is an autosomal recessive hereditary pancreatic neuroendocrine tumor (PNET) syndrome that has only been reported in adults with pancreatic α cell hyperplasia and PNETs. We describe a 7-year-old girl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67e39013317d0a6c413064a75ec855fd
http://www.sciencedirect.com/science/article/pii/S2214426918300776
http://www.sciencedirect.com/science/article/pii/S2214426918300776
Autor:
Catherine, Rehder, Lora J H, Bean, David, Bick, Elizabeth, Chao, Wendy, Chung, Soma, Das, Julianne, O'Daniel, Heidi, Rehm, Vandana, Shashi, Lisa M, Vincent
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 23(8)
Next-generation sequencing (NGS) technologies are now established in clinical laboratories as a primary testing modality in genomic medicine. These technologies have reduced the cost of large-scale sequencing by several orders of magnitude. It is now
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4374f90f4d76183ff5b85f7e240bfcb3
https://pubmed.ncbi.nlm.nih.gov/33927380
https://pubmed.ncbi.nlm.nih.gov/33927380