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Rachel Gosselin | Researchclopedia

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Rachel Gosselin

Nationwide Children's Hospital ORCID

12

Works

12

Citations

1

h-index

0

i10-index

Research Topics

Genomics and Rare Diseases Congenital heart defects research Congenital Heart Disease Studies

Affiliations

Nationwide Children's Hospital2024–2026

Top Works

Feasibility of newborn screening for pyridoxine-dependent epilepsy

Kristine Pauly,Michael Woontner,et al.

20249 citations

RNA and protein synthesis mechanisms

Metabolism and Genetic Disorders

Outcomes of in-house rapid genome sequencing at a Children’s Hospital

Bimal Chaudhari,Catherine E. Cottrell,et al.

20211 citations

Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder: evidence from patients and models of the disease

Arcangela Iuso,Fangfang Zhang,et al.

20241 citations

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

Esra Erkut,Cherith Somerville,et al.

20251 citations

Abstract 4141963: Patient Perspectives of Genetic Testing in Adult Congenital Heart Disease

Angela Onorato,Kathryn Vannatta,et al.

20240 citations

Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models

Fangfang Zhang,Tatjana Dorn,et al.

20250 citations

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

Esra Erkut,Cherith Somerville,et al.

20260 citations

Evaluation of Exome and Genome Sequencing for Critically Ill Pediatric Cardiac Patients

Angela Onorato,Rachel Gosselin,et al.

20250 citations

Assessing Genetic Testing in Adult Congenital Heart Disease: Current State and Patient Perspectives

Angela Onorato,Kara Klinkebiel,et al.

20260 citations