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List of works by Sarah E Sheppard

Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management

scientific article published on 31 May 2019

Correction to: Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomaly

scientific article published in 2022

Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm

scientific article published on 21 January 2020

Generalized, severe epidermolysis bullosa simplex caused by a Keratin 5 p.E477K mutation

scientific article published on 03 October 2019

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

scientific article published in 2022

Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas

scientific article published on 30 November 2020

Misdiagnosis of capillary malformations in darker skin phototypes

scientific article published in 2021

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia

scientific article published in October 2018

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