Genetics in Medicine

Genetics in Medicine Journal

Publication venue for

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. 25:135-142. 2022
The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG). 22:675-680. 2020
An immune tolerance approach using transient low-dose methotrexate in the ERT-naive setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease. 21:887-895. 2019
Commentary: Expanded carrier screening: how much is too much?. 21:1927-1930. 2019
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. 18:1143-1150. 2016

International Standard Serial Number (ISSN)

1098-3600