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

Genet Med ISSN 1530-0366 478 views

Indexed In

ncbi

Publications

10

Details

Abbreviated Name: genet med
ISSN: 1530-0366

Publications/Year

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7

Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes

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Who's on third? Regulation of third-party genetic interpretation services.

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Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions.

2020 267 clicks

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Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.

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Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

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AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature.

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Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

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Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.

2018 75 clicks

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Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

2024 50 clicks

10

Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.

2023 36 clicks