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

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

Indexings
ncbi
Short Name Genet Med
Abbreviated Name genet med
ISSN 1530-0366
Aim and Scope
URL
Author Instructions

Publications Per Year

Recent Articles (10 total)

2017
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes
Vol. 19 , No. 7 , pp. -
308 views Abstract
2019
Who's on third? Regulation of third-party genetic interpretation services.
291 views DOI Abstract
2020
Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions.
254 views DOI Abstract
2020
Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.
248 views DOI Abstract
2019
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
220 views DOI Abstract
2019
AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature.
207 views DOI Abstract
2019
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Vol. 21 , No. 7 , pp. 1667-1671
153 views DOI Abstract
2018
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.
Vol. 20 , No. 8 , pp. 855-866
44 views DOI Abstract
2024
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
, pp. 101251
39 views DOI Abstract
2023
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.
Vol. 25 , pp. 100344
26 views DOI Abstract
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