Carrie L Welch

4PUBLICATIONS
53CO-AUTHORS
Medical molecular engineering of nucleic acids and proteinsMechanobiologyRespiratory diseases
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (4)

|Jan 30, 2026
Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension.

Carrie L Welch, Meriel McEntagart, Shahin Moledina

|Jul 15, 2025
Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar.

Christina A Eichstaedt, Gabriel Maldonado-Velez, Rajiv D Machado

|Jul 19, 2022
First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.

Matina Prapa, Mauro Lago-Docampo, Emilia M Swietlik

|Sep 08, 2021
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.

Rajiv D Machado, Carrie L Welch, Matthias Haimel

Pageof 1

Frequent Collaborators

3 joint publications

Wendy K Chung

3 joint publications

Stefan Gräf

2 joint publications

Rajiv D Machado

2 joint publications

Laura Southgate