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Elizabeth Fanning

Certified Genetic Counselor · Children's Hospital of Philadelphia

Credentials: ·

History

Children's Hospital of Philadelphia
Present

Research

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to…
Case report · Genome Medicine · 2019 · 40 citations
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature
Case report · European Journal of Human Genetics · 2018 · 35 citations
Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures"
Case report · Bone · 2019 · 18 citations

Suzanne MacFarland
5 papers
Gerald Wertheim
4 papers
Lea Surrey
4 papers
Klaas Weirenga
3 papers
Garrett Brodeur
2 papers
Haley Newman
2 papers · 1 as a fellow
Sarah Tasian
2 papers
Stephen Hunger
2 papers
Timothy Olson
2 papers
AD
Aleksandra Dain
1 paper · 1 as a fellow
Antonie Kline
1 paper
Ashwini Yenamandra
1 paper