M
Malheiro Aj
Researcher at National Institutes of Health
Publications - 15
Citations - 2570
Malheiro Aj is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Medical genetics & DPYD. The author has an hindex of 5, co-authored 15 publications receiving 1455 citations.
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Journal ArticleDOI
ClinVar: improving access to variant interpretations and supporting evidence.
Melissa J. Landrum,Jennifer M. Lee,Mark L. Benson,Garth Brown,Chen Chao,Shanmuga Chitipiralla,Baoshan Gu,Jennifer Hart,Douglas W. Hoffman,Wonhee Jang,Karen Karapetyan,Kenneth S. Katz,Chunlei Liu,Zenith Maddipatla,Malheiro Aj,Kurt McDaniel,Michael Ovetsky,George R. Riley,George Zhou,J. Bradley Holmes,Brandi L. Kattman,Donna Maglott +21 more
TL;DR: ClinVar continues to make improvements to its search and retrieval functions.
Journal ArticleDOI
The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency
Wendy S. Rubinstein,Donna Maglott,Jennifer M. Lee,Brandi L. Kattman,Malheiro Aj,Michael Ovetsky,Vichet Hem,Viatcheslav Gorelenkov,Guangfeng Song,Craig Wallin,Nora Husain,Shanmuga Chitipiralla,Kenneth S. Katz,Douglas W. Hoffman,Wonhee Jang,Mark D. Johnson,Fedor Karmanov,Alexander Ukrainchik,Mikhail Denisenko,Cathy Fomous,Kathy L. Hudson,James Ostell +21 more
TL;DR: The National Institutes of Health Genetic Testing Registry (GTR) maintains comprehensive information about testing offered worldwide for disorders with a genetic basis through basic information maintained in National Center for Biotechnology Information’s databases.
Medical Genetics Summaries
Victoria M. Pratt,Stuart A. Scott,Munir Pirmohamed,Bernard Esquivel,Megan S. Kane,Brandi L. Kattman,Malheiro Aj +6 more
Medical Genetics Summaries [Internet]
Victoria M. Pratt,Stuart A. Scott,Munir Pirmohamed,Bernard Esquivel,Megan S. Kane,Brandi L. Kattman,Malheiro Aj +6 more
TL;DR: Medical Genetics Summaries as discussed by the authors is a collection of summaries which describe the impact that specific sequence variations have on health, including genetic variants that underlie inherited conditions, affect the risk of developing a disease in the future, or influence how an individual may respond to a specific drug.