ACMG
National Institutes of Health
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Introduction: The expanding diagnostic and clinical significance of genes associated with myeloid malignancies necessitates…
21% of the total population of the capital city live in settlements in peri urban areas of Ouagadougou which are illegal and…
sequence coverage of over 130β. Variants were classified as deleterious, of unknown clinical significance or benign on the basis…
sequence coverage of over 130β. Variants were classified as deleterious, of unknown clinical significance or benign on the basis…
Following the tragic news of the recent and untimely passing of David L. Rimoin, MD, PhD, FACMG, medical genetics pioneer and…
Introducing the ACMG Student Interest Group Programs: this new program offers targeted resources and educational materials and…
To the Editor: "Ethics, Evidence, and Cost in Newborn Screening," by Mary Ann Baily and Thomas H. Murray, and "Expanding Newborn…
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct neurodevelopmental disorders [Holm et al., 1993; Williams et…