Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Jennifer Holle"'
Autor:
Sophia Yohe, Malaichamy Sivasankar, Anuprita Ghosh, Arkasubhra Ghosh, Jennifer Holle, Sakthivel Murugan, Ravi Gupta, Lisa A. Schimmenti, Ramprasad Vedam, Bharat Thyagarajan
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Abstract Background Studies evaluating next‐generation sequencing (NGS) for retinal disorders may not reflect clinical practice. We report results of retrospective analysis of patients referred for clinical testing at two institutions (US and India
Externí odkaz:
https://doaj.org/article/09099b17ee744525a99d656388db76ff
Autor:
Paige Hartman, Kenneth Beckman, Kevin Silverstein, Sophia Yohe, Matthew Schomaker, Christine Henzler, Getiria Onsongo, Ham Ching Lam, Sarah Munro, Jerry Daniel, Bradley Billstein, Archana Deshpande, Adam Hauge, Pawel Mroz, Whiwon Lee, Jennifer Holle, Katie Wiens, Kylene Karnuth, Teresa Kemmer, Michaela Leary, Stephen Michel, Laurie Pohlman, Venugopal Thayanithy, Andrew Nelson, Matthew Bower, Bharat Thyagarajan
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 19, Iss , Pp - (2019)
Clinical laboratories have adopted next generation sequencing (NGS) as a gold standard for the diagnosis of hereditary disorders because of its analytic accuracy, high throughput, and potential for cost-effectiveness. We describe the implementation o
Externí odkaz:
https://doaj.org/article/7f786e4d73364fba9230596203bd40b1
Autor:
Jessica Quinn, Jennifer Holle, Britt Johnson, Rebecca Truty, Fred Modell, Jordan S. Orange, Swaroop Aradhya, Vicki Modell
Publikováno v:
Immunologic Research
Primary immunodeficiencies (PI) are genetic defects of the immune system that result in chronic and often life-threatening infections and/or life-threatening autoimmunity if not diagnosed and treated. Patients with a suspected PI, but without a genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd15c53d1e477bf8e4c76c19a82ea335
https://doi.org/10.1007/s12026-020-09131-x
https://doi.org/10.1007/s12026-020-09131-x
Autor:
Jennifer Holle, Lisa A. Schimmenti, Arkasubhra Ghosh, Sophia Yohe, Ramprasad Vedam, Bharat Thyagarajan, Ravi Gupta, Sakthivel Murugan, Anuprita Ghosh, Malaichamy Sivasankar
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Background Studies evaluating next‐generation sequencing (NGS) for retinal disorders may not reflect clinical practice. We report results of retrospective analysis of patients referred for clinical testing at two institutions (US and India). Method
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::295f85541d0965a8d0e0b3851ac5c587
https://doi.org/10.1002/mgg3.1081
https://doi.org/10.1002/mgg3.1081
Autor:
C. Alexander Valencia, Jennifer Holle, Kathleen Collins, Melanie F. Myers, Xue Zhang, Leandra K. Tolusso
Publikováno v:
Journal of Genetic Counseling. 26:792-805
Whole exome sequencing (WES) is an integral tool in the diagnosis of genetic conditions in pediatric patients, but concerns have been expressed about the complexity of the information and the possibility for secondary findings that need to be conveye
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c2f09bde493f91fba0556e9d1bce7e0
https://doi.org/10.1007/s10897-016-0052-9
https://doi.org/10.1007/s10897-016-0052-9
Autor:
Michaela M. Leary, Pawel Mroz, Jerry Daniel, Bharat Thyagarajan, Andrew C. Nelson, Jennifer Holle, Christine Henzler, Katie Wiens, Kenneth B. Beckman, Whiwon Lee, Venugopal Thayanithy, Teresa Kemmer, Sophia Yohe, Kevin A. T. Silverstein, Adam Hauge, Paige Hartman, Laurie Pohlman, Ham Ching Lam, Matthew Schomaker, Getiria Onsongo, Archana Deshpande, Stephen Michel, Matthew Bower, Kylene Karnuth, Bradley Billstein, Sarah A. Munro
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 19, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reports, Vol 19, Iss, Pp-(2019)
Clinical laboratories have adopted next generation sequencing (NGS) as a gold standard for the diagnosis of hereditary disorders because of its analytic accuracy, high throughput, and potential for cost-effectiveness. We describe the implementation o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d67efd4ae65d9b98c45fdb765b32d250
http://europepmc.org/articles/PMC6403447
http://europepmc.org/articles/PMC6403447
Autor:
Stella M. Davies, Michael B. Jordan, Kejian Zhang, Anna Maria Holdcroft, Rebecca A. Marsh, Lijun Wang, Jennifer Holle
Publikováno v:
Pediatric Blood & Cancer. 62:1288-1290
Genetic forms of hemophagocytic lymphohistiocytosis (HLH) are caused by mutations in autosomal recessive genes affecting perforin-dependent cytotoxic function and two X-linked genes affecting distinct cell signaling pathways: SH2D1A and XIAP. HLH cau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5515ea321247d5ce2742040cd3345efd
https://doi.org/10.1002/pbc.25483
https://doi.org/10.1002/pbc.25483
Autor:
Fanggeng Zou, Robert J. Hopkin, Judith Johnson, Mehdi Keddache, Lijun Wang, Thomas A. Burrow, Xia Li, Chao Wei, Yaping Qian, Katie Wusik, Jennifer Holle, C. Alexander Valencia, Abhinav Mathur, Amber Begtrup, Haiying Meng, Kenneth M. Kaufman, Tony Tan, John B. Harley, Subba Rao Indugula, Rachel Fisher, Kejian Zhang, Derek E. Neilson, Elizabeth K. Schorry, Kathleen Collins, Ammar Husami
Publikováno v:
Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 3 (2015)
Frontiers in Pediatrics, Vol 3 (2015)
Background There are limited reports of the use of whole exome sequencing (WES) as a clinical diagnostic tool. Moreover, there are no reports addressing the cost burden associated with genetic tests performed prior to WES. Objective We demonstrate th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfa670f257c5f720f11a4966797d04cc
https://pubmed.ncbi.nlm.nih.gov/26284228
https://pubmed.ncbi.nlm.nih.gov/26284228
Autor:
Nastaran Heidari, Scott T. Michalski, Tali Ekstein, Jennifer Holle, Edward D. Esplin, Stephen E Lincoln, Shan Yang, Karen Ouyang, Carolina Pardo, Michael Anderson, Erin O'Leary, Robert L. Nussbaum
Publikováno v:
Journal of Clinical Oncology. 35:1584-1584
1584 Background: Multi-gene testing for cancer predisposition is increasingly utilized in clinical care. Although the diagnostic yield and management implications of such testing in breast, ovarian and colorectal cancer are relatively well understood
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2f5013ab53833526a4d34a1cbdacfa51
https://doi.org/10.1200/jco.2017.35.15_suppl.1584
https://doi.org/10.1200/jco.2017.35.15_suppl.1584
Autor:
Theru A. Sivakumaran, Judith Johnson, Brian Goico, Kejian Zhang, Jennifer Holle, John H. Greinwald, Vi Manickam
Publikováno v:
Otolaryngology–Head and Neck Surgery. 151
Objectives:Congenital sensorineural hearing loss (SNHL) is relatively common, occurring in 2 to 4 per 1000 infants, with genetic etiologies accounting for nearly 67% of cases. The clinical presentation of patients with syndromic and nonsyndromic SNHL
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4c70b51e268253df6e51bb20598c0da8
https://doi.org/10.1177/0194599814541627a205
https://doi.org/10.1177/0194599814541627a205