AMERICAN JOURNAL OF MEDICAL GENETICS PART A

AMERICAN JOURNAL OF MEDICAL GENETICS PART A Journal

publication venue for

ARID2, a milder cause of Coffin-Siris Syndrome? Broadening the phenotype with 17 additional individuals 2024
Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia 2022
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders 2022
Exome and RNA-Seq analyses of an incomplete penetrance variant in USP9X in female-specific syndromic intellectual disability 2022
Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients 2021
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3 2021
Case report of adrenocortical carcinoma associated with double germline mutations in MSH2 and RET 2021
Growth charts for individuals withCoffin-Sirissyndrome. 182:2253-2262. 2020
The variability ofSMARCA4-relatedCoffin-Sirissyndrome: Do nonsense candidate variants add to milder phenotypes? 2020
Congenital lumbar hernia-A feature of diabetic embryopathy?. 176:2243-2249. 2018
Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance. 176:2435-2445. 2018
First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations. 176:2250-2258. 2018
Kabuki Syndrome as a Cause of Non-Immune Fetal Hydrops/Ascites. 170:3333-3337. 2016
Epilepsy in Coffin-Siris syndrome: A report from the international CSS registry and review of the literature 2022

International Standard Serial Number (ISSN)

1552-4825

Electronic International Standard Serial Number (EISSN)

1552-4833