Zobrazeno 1 - 10
of 100
pro vyhledávání: '"Kathryn B. Garber"'
Autor:
Jennifer C. Wong, Kameryn M. Butler, Lindsey Shapiro, Jacquelyn T. Thelin, Kari A. Mattison, Kathryn B. Garber, Paula C. Goldenberg, Shobana Kubendran, G. Bradley Schaefer, Andrew Escayg
Publikováno v:
Frontiers in Pharmacology, Vol 12 (2021)
Numerous SCN8A mutations have been identified, of which, the majority are de novo missense variants. Most mutations result in epileptic encephalopathy; however, some are associated with less severe phenotypes. Mouse models generated by knock-in of hu
Externí odkaz:
https://doaj.org/article/f765ae8f391a48a3a868a1a5685cd432
Autor:
Glen J. Iannucci, Dawn M. Simon, Erica L. Riedesel, Michael J. Gambello, Ajay S Kasi, Amit S Shah, Emily Black, Kathryn B. Garber
Publikováno v:
Pediatr Allergy Immunol Pulmonol
Background: Interstitial lung disease (ILD) has been recently reported in a few patients with pathogenic variants in the Filamin A (FLNA) gene with variable presentation and prognosis. This study evaluated the respiratory manifestations and clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98ce81c42e74299bed4e091def501479
https://doi.org/10.1089/ped.2020.1280
https://doi.org/10.1089/ped.2020.1280
Autor:
Avni Santani, Stefan Rentas, Eija H. Seppälä, Steven M. Harrison, Lisa M. Vincent, Andrew S. McFaddin, Christin D. Collins, Juha Koskenvuo, Brian H. Shirts, Hane Lee, Rong Mao, Scott Topper, Soma Das, Olga Jarinova, Wenjie Chen, Heidi L. Rehm, Krista Moyer, Rebecca Mar-Heyming, John Garcia, Kathy M. B. Vinette, Kathryn B. Garber, Joshua L. Deignan, Amy E. Knight Johnson, Timothy Tidwell, Narasimhan Nagan, Jill S. Dolinksy
Publikováno v:
Human Mutation. 39:1641-1649
ClinVar provides open access to variant classifications shared from many clinical laboratories. While most classifications are consistent across laboratories, classification differences exist. To facilitate resolution of classification differences on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::870f174084982c589fbfe3660e785533
https://doi.org/10.1002/humu.23643
https://doi.org/10.1002/humu.23643
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
As exome and genome sequencing using high-throughput sequencing technologies move rapidly into the diagnostic process, laboratories and clinicians need to develop a strategy for dealing with uncertain findings. A commitment must be made to minimize t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b20e1e0e84c545b11ff050889cc2231
https://doi.org/10.1038/gim.2016.67
https://doi.org/10.1038/gim.2016.67
Publikováno v:
Trends in Genetics. 32:317-320
Several institutions have incorporated participatory genomic testing into their curricula to engage students in experiential learning, and this has raised ethical concerns. We summarize strategies for managing these concerns and review evidence of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c6b0db15a1b295deca7e3317da0ef87
https://doi.org/10.1016/j.tig.2016.03.008
https://doi.org/10.1016/j.tig.2016.03.008
Publikováno v:
Personalized medicine. 16(3)
Rapid advances in genomic technologies combined with drastic reductions in cost and a growing number of clinical genomic tests are transforming medical practice. While enthusiasm about applications of precision medicine is high, the existing clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::505c87cbfc99a36f2e9d69a1cec363dc
https://pubmed.ncbi.nlm.nih.gov/30489214
https://pubmed.ncbi.nlm.nih.gov/30489214
Publikováno v:
Human Molecular Genetics. 23:3299-3306
Polymorphisms in the fat mass and obesity-associated (FTO) gene have been associated with obesity in humans. FTO is a nuclear protein and its physiological function remains largely unknown, but alterations in its expression in mice influence energy e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9b6dd4a8748ba0c1ee768e09aef49cb
https://doi.org/10.1093/hmg/ddu043
https://doi.org/10.1093/hmg/ddu043
Autor:
Georgia Loucopoulos, Deepti Babu, Cecelia Bellcross, Dawn Laney, Morgan F. Simmons, Kathryn B. Garber
Publikováno v:
Molecular Genetics and Metabolism. 126:S95
There is a lack of information about knowledge gaps in the lysosomal storage disease (LSD) population, which limits the capacity for proper genetic counseling. This is the first study to discern these gaps and assesses if online information can fill
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e43dcdcee84a1c1cae4f74887eb3acbf
https://doi.org/10.1016/j.ymgme.2018.12.237
https://doi.org/10.1016/j.ymgme.2018.12.237
Publikováno v:
Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::56051a43cb111d6afe3212ef519aa2d8
https://doi.org/10.1093/med/9780199934522.003.0158
https://doi.org/10.1093/med/9780199934522.003.0158
Autor:
Kathryn B. Garber
Publikováno v:
The American Journal of Human Genetics. 101:641-642
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::17432ba43a5ce875d9eb87018fdfb3e2
https://doi.org/10.1016/j.ajhg.2017.10.004
https://doi.org/10.1016/j.ajhg.2017.10.004