Results 191 to 200 of about 1,273,127 (279)

Impact of the COVID-19 pandemic on medical genetics and genomics training: Perspective from clinical trainees. [PDF]

Am J Med Genet A, 2022
Chenbhanich J, Slavotinek A, Tam A.
europepmc   +1 more source

Tumor and germline testing with next generation sequencing in epithelial ovarian cancer: a prospective paired comparison using an 18‐gene panel

Molecular Oncology, EarlyView.
Genetic testing in epithelial ovarian cancer includes both germline and tumor‐testing. This approach often duplicates resources. The current prospective study assessed the feasibility of tumor‐first multigene testing by comparing tumor tissue with germline testing of peripheral blood using an 18‐gene NGS panel in 106 patients.
Elisabeth Spenard, Cristina Mitric, Melanie Care, Tracy L. Stockley, Raymond H. Kim, Jeanna McCuaig, Blaise Clarke, Laura Ranich, Clare Sheen, Sarah E. Ferguson, Liat Hogen, Taymaa May, Marcus Q. Bernardini   +12 more
wiley   +1 more source

Developing medical genetics in a low-income country: Unveiling the journey of the Pakistani Society of Medical Genetics and Genomics (PSMG). [PDF]

Genet Med Open
Furqan A, Ahmed SA, Naeem R, Ashfaq M.
europepmc   +1 more source

ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med, 2023
Miller DT, Lee K, Abul-Husn NS, Amendola LM, Brothers K, Chung WK, Gollob MH, Gordon AS, Harrison SM, Hershberger RE, Klein TE, Richards CS, Stewart DR, Martin CL, ACMG Secondary Findings Working Group. Electronic address: documents@acmg.net.   +14 more
europepmc   +1 more source

Brief for American Medical Association, American Society of Human Genetics, American College of Obstetricians and Gynecologists, American College of Embryology, and the Medical Society of the State of New York as Amici Curiae in Support of Plaintiffs-Appellees and Arguing for Affirmance, Association for Molecular Pathology v. U.S. Patent and Trademark Office, 689 F.3d 1303 (Fed. Cir. 2012) (No. 201001406).

, 2010
Joshua D. Sarnoff, Lori B. Andrews
openalex   +1 more source

PRO129 IMPORTANCE OF UNCERTAINTY IN MEAN SCORE ESTIMATES OF ONE SURVEY QUESTION ABOUT TEST ACCURACY: AMERICAN COLLEGE OF MEDICAL GENETICS (ACMG) RECOMMENDATIONS FOR NEWBORN SCREENING (NBS) IN MEDIUM CHAIN KETOACYL-COA THIOLASE DEFICIENCY (MCKAT) [PDF]

, 2019
B Rittenhouse
openalex   +1 more source

Plasma extrachromosomal circular DNA as a biomarker in EGFR‐targeted therapy of non‐small cell lung cancer

Molecular Oncology, EarlyView.
Detection of extrachromosomal circular DNA (eccDNA) in plasma samples from EGFR‐mutated non‐small cell lung cancer patients. Plasma was collected before and during treatment with the EGFR‐tyrosine kinase inhibitor osimertinib. Plasma eccDNA was detected in all cancer samples, and the presence of the EGFR gene on eccDNA serves as a potential biomarker ...
Simone Stensgaard, Sarmad Mehmood, Eva Boysen Fynboe Ebert, Peter Meldgaard, Anindya Dutta, Boe S. Sorensen   +5 more
wiley   +1 more source

Cipaglucosidase alfa and miglustat for treatment of late-onset Pompe disease (LOPD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open
Baker EK, Derry A, Cohen JL, Chang IJ, ACMG Therapeutics Committee5∗documents@acmg.net.   +4 more
europepmc   +1 more source

Olipudase alfa approved for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open, 2023
Penon-Portmann M, Poskanzer SA, Ganesh J, Chang I, ACMG Therapeutics Committee4∗documents@acmg.net.   +4 more
europepmc   +1 more source

Medical genetics: advances in brief [PDF]

, 1998
F. Flinter
openalex   +1 more source