Genetics in medicine : official journal of the American College of Medical Genetics

Genet Med ISSN: 1530-0366 genet med
ncbi
10
Indexed Articles
454
Journal Page Views
1,835
Total Article Clicks
2017–2024
Publication Range
Publications Per Year
All Indexed Articles (10)
# Article Year Clicks
7 Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes
Vol. 19 pp. -
2017 312
4 Who's on third? Regulation of third-party genetic interpretation services. 2019 288
6 Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions. 2020 256
5 Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature. 2020 255
2 Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature. 2019 219
3 AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature. 2019 214
1 Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Vol. 21 pp. 1667-1671
2019 158
8 Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.
Vol. 20 pp. 855-866
2018 70
9 Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
pp. 101251
2024 39
10 Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.
Vol. 25 pp. 100344
2023 24
Journal Info
Full NameGenetics in medicine : official journal of the American College of Medical Genetics
Short NameGenet Med
Abbreviationgenet med
ISSN1530-0366
Rank15.66 / 100
Indexed In
ncbi