Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Patrick, Reineke"'
Autor:
Min Yu, Tiziana Bachetti, Virginia Speare, Casey M. Rand, Isabella Ceccherini, Amy Zhou, Kai Lee Yap, Patrick Reineke, Lawrence J. Jennings, Debra E. Weese-Mayer, Sara M. Hockney, Lili Zhou, Melanie Pennock, Elizabeth Berry-Kravis, Grace Niewijk
Publikováno v:
Genetics in Medicine. 23:1656-1663
Purpose CCHS is an extremely rare congenital disorder requiring artificial ventilation as life support. Typically caused by heterozygous polyalanine repeat expansion mutations (PARMs) in the PHOX2B gene, identification of a relationship between PARM
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ddba4abca4a84e89251cc011b0d5343b
https://doi.org/10.1038/s41436-021-01178-x
https://doi.org/10.1038/s41436-021-01178-x
Autor:
Amy, Zhou, Casey M, Rand, Sara M, Hockney, Grace, Niewijk, Patrick, Reineke, Virginia, Speare, Elizabeth M, Berry-Kravis, Lili, Zhou, Lawrence J, Jennings, Min, Yu, Isabella, Ceccherini, Tiziana, Bachetti, Melanie, Pennock, Kai Lee, Yap, Debra E, Weese-Mayer
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 23(9)
CCHS is an extremely rare congenital disorder requiring artificial ventilation as life support. Typically caused by heterozygous polyalanine repeat expansion mutations (PARMs) in the PHOX2B gene, identification of a relationship between PARM length a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ea1a1d26887a2fc3cd375572fbdcfea9
https://pubmed.ncbi.nlm.nih.gov/33958749
https://pubmed.ncbi.nlm.nih.gov/33958749
Autor:
Amal Yussuf, Rachel McFarland, Patrick Reineke, Stephanie Gutierrez, Jonathan Pepper, Holly LaDuca, Taylor Cain, Kirsten Blanco, Carolyn Horton, Nadia Ho, Jill S. Dolinsky
Publikováno v:
JCO Clinical Cancer Informatics. :1-11
Purpose Clinical history data reported on test requisition forms (TRFs) for hereditary cancer multigene panel testing (MGPT) are routinely used by genetic testing laboratories. More recently, publications have incorporated TRF-based clinical data int
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f0dce696d7c509764a8a63ab3d18d20
https://doi.org/10.1200/cci.18.00014
https://doi.org/10.1200/cci.18.00014
Autor:
Kate Krempely, Stephany Tandy-Connor, Holly LaDuca, Brigette Tippin Davis, Stephanie Gutierrez, Jenna Guiltinan, Patrick Reineke, Phillip Gray
Publikováno v:
Genetics in Medicine
Purpose There is increasing demand from the public for direct-to-consumer (DTC) genetic tests, and the US Food and Drug Administration limits the type of health-related claims DTC tests can market. Some DTC companies provide raw genotyping data to cu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c88377214ed8f13df0475ec2ced55dcf
http://europepmc.org/articles/PMC6301953
http://europepmc.org/articles/PMC6301953
Autor:
Blair R. Conner, Suzette Farber-Katz, Rachid Karam, Aaron Elliott, Jill S. Dolinsky, Patrick Reineke, Marcy E. Richardson, Elizabeth C. Chao, Deborah Toppmeyer, Sarah Nashed, Ginger Haynes, John J. Lee, Brigette Tippin Davis, Kyle Allen, Tina Pesaran, Stephanie Gutierrez, Amal Yussuf, Holly LaDuca, Debra L. Collins, Samantha Culver, Lily Hoang, Kelly McGoldrick, Huma Q. Rana, Kate Krempely, Heather Zimmermann
Publikováno v:
JAMA network open. 2(10)
Importance Performing DNA genetic testing (DGT) for hereditary cancer genes is now a well-accepted clinical practice; however, the interpretation of DNA variation remains a challenge for laboratories and clinicians. Adding RNA genetic testing (RGT) e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1255e7ea8e8731fbb1469d2b0d9634f
https://pubmed.ncbi.nlm.nih.gov/31642931
https://pubmed.ncbi.nlm.nih.gov/31642931
Autor:
Ashley Deckman, Michelle Jackson, Holly LaDuca, Negar Ghahramani, Lucia Guidugli, Melissa Pronold, Erica Wellington, Monalyn Umali Salvador, Patrick Reineke, Daniel Chen
Publikováno v:
Journal of Clinical Oncology. 36:5579-5579
5579Background: Germline and somatic genetic testing have traditionally been offered separately; however, the clinical applications of these tests are now converging with continued FDA approval of ...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::db945733668c82d175073eb48e588d1b
https://doi.org/10.1200/jco.2018.36.15_suppl.5579
https://doi.org/10.1200/jco.2018.36.15_suppl.5579
Publikováno v:
Journal of Clinical Oncology. 36:e13613-e13613
e13613Background: In addition to guiding targeted therapy, tumor profiling may incidentally reveal germline mutations leading to the diagnosis of hereditary cancer predisposition. When somatic and ...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3c84fa7d3179c6828f77eb8f455bcc42
https://doi.org/10.1200/jco.2018.36.15_suppl.e13613
https://doi.org/10.1200/jco.2018.36.15_suppl.e13613
Publikováno v:
Gastroenterology. 154:S-204
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::11a087d3f19285043702c213176da213
https://doi.org/10.1016/s0016-5085(18)31081-3
https://doi.org/10.1016/s0016-5085(18)31081-3
Autor:
Patrick Reineke, Robina Smith, Holly LaDuca, Carin R. Espenschied, Kelly Fulk, Jessica Profato
Publikováno v:
Journal of Clinical Oncology. 35:e13109-e13109
e13109 Background: Many multigene panel (MGP) options are available for hereditary cancer testing. Previously, management guidelines were only published for a few high-risk genes, but now such guidelines exist for most genes on MGPs. Many clinicians
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f795dcbfc601181e01cf5a094060c667
https://doi.org/10.1200/jco.2017.35.15_suppl.e13109
https://doi.org/10.1200/jco.2017.35.15_suppl.e13109
Publikováno v:
Journal of Clinical Oncology. 35:490-490
490 Background: Germline mutations in BAP1 have recently been shown to cause a tumor predisposition syndrome characterized by renal cell carcinoma (RCC), uveal melanoma, cutaneous melanoma, and mesothelioma. However, mutations have thus far been iden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4ff052ef472b8fef2001ca3ef95f2147
https://doi.org/10.1200/jco.2017.35.6_suppl.490
https://doi.org/10.1200/jco.2017.35.6_suppl.490