Jennifer Posey

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Assistant Professor

Baylor College of Medicine

United States

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About

Jennifer Posey is an Assistant Professor at Baylor College of Medicine, USA. Her research areas focus on clinical genomics, particularly the efficacy of clinical exome sequencing and genetic contributions to congenital anomalies and metabolic disorders. Recent publications highlight her work on pediatric populations and phenotypic heterogeneity related to genetic disorders, contributing significantly to the fields of genetics and developmental biology.

Recent Grants

Grant: Close

Individual genomic analyses to discover the molecular basis and mechanisms contributing to adult-onset disease

Open Date: 2017-02-01

Close Date: 2022-01-31

Articles (14)

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2025

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2022

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2022

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2022

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2021

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2020

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2020

Collaborators (8)

Steven Buyske

Rutgers University

UNITED STATES

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Lauren Westerfield

Assistant Professor, Genetic Counselor

Baylor College of Medicine

UNITED STATES

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Gemma Poke

University of Otago

NEW ZEALAND

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Jessica Chong

University of Washington

UNITED STATES

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Elizabeth Blue

Associate Professor

University of Washington

UNITED STATES

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Nicole Lake

Assistant Professor of Genetics

Yale University

UNITED STATES

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Joseph T. Shieh

UNITED STATES

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Maria J. Redondo

Baylor College of Medicine

UNITED STATES

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Jennifer Posey

Research Interests

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About

Recent Grants

Articles (14)

Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)

Maturity-Onset Diabetes of the Young (MODY) in a Racially/Ethnically Diverse Pediatric Population

Human embryonic genetic mosaicism and its effects on development and disease

Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature

Centers for Mendelian Genomics: A decade of facilitating gene discovery

De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome

Variant‐level matching for diagnosis and discovery: Challenges and opportunities

Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait

Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant

Risk of sudden cardiac death in EXOSC5‐related disease

Clinical characterization of individuals with the distal 1q21.1 microdeletion

Clinical presentation and evolution of Xia‐Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa)

Congenital diaphragmatic hernia as a prominent feature of a SPECC1L‐related syndrome

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

Collaborators (8)

Steven Buyske

Lauren Westerfield

Gemma Poke

Jessica Chong

Elizabeth Blue

Nicole Lake

Joseph T. Shieh

Maria J. Redondo

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