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Louisa Pyle

Assistant Professor

Nationwide Children's Hospital

United States

Research Interests

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About

Louisa Pyle is an Assistant Professor at Children's National Hospital in the United States. Her research focuses on syndromic short stature, dysmorphology, and genetic variants associated with various conditions. Recent publications include investigations into SEMA3A loss-of-function variants, pathogenic CDH11 variants, and mutations related to cancer risk in specific populations.

Articles (8)

Year:

2026

Year:

2025

Year:

2021

Year:

2021

Year:

2021

Year:

2020

Year:

2020

Year:

2020

Collaborators (4)

Lisa Guay-Woodford

Professor

Children's Hospital of Philadelphia

UNITED STATES

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Jamie Fraser

Associate Professor of Pediatrics

University of Virginia

UNITED STATES

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Marva Moxey-Mims

Professor of Pediatrics

George Washington University

UNITED STATES

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Heather Gordish-Dressman

George Washington University

UNITED STATES

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Louisa Pyle

Research Interests

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About

Articles (8)

A novel homozygous variant causing fatal neonatal adenylosuccinate lyase (ADSL) deficiency presenting with respiratory failure and encephalopathy

Structured Application of Genetic Testing in a Pediatric Kidney Clinic

Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome

The discipline of dysmorphology and the beauty of art

A Rare TP53 Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers

Lack of pathogenic germline DICER1 variants in males with testicular germ-cell tumors

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations

Collaborators (4)

Lisa Guay-Woodford

Jamie Fraser

Marva Moxey-Mims

Heather Gordish-Dressman

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