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Audrey Schroeder

MSGC Program Director · University of Rochester Medicine

Credentials: ·

History

MSGC · University of Rochester Medicine
Present
CGC, URSMD for MSGC program · University of Rochester Medicine
Present

Research

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions
Case report · The American Journal of Human Genetics · 2016 · 75 citations
A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction
Case report · Journal of Biological Chemistry · 2016 · 66 citations
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome
American Journal of Medical Genetics Part A · 2021 · 64 citations

Chin-To Fong
4 papers
KL
Kristin Lindstrom
4 papers
Elaine Zackai
2 papers
Elizabeth Bhoj
2 papers
Jonathan Bernstein
2 papers
Rhonda Schnur
2 papers
Aikaterini Nella
1 paper
Amy Goldstein
1 paper
Anne Slavotinek
1 paper
April Rahrig
1 paper · 1 as a resident
AM
Arelis Martir-Negron
1 paper
Balram Gangaram
1 paper