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Jennifer Sullivan

6PUBLICATIONS

62CO-AUTHORS

Gene expression (incl. microarray and other genome-wide approaches)Cellular nervous systemEpigenetics (incl. genome methylation and epigenomics)Medical biotechnology diagnostics (incl. biosensors)

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Publications (6)

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|Sep 05, 2025

Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.

Heidi L Cope, Elizabeth R Jalazo, Jonathan S Berg

|Apr 02, 2024

Mono and biallelic variants in <i>HCN2</i> cause severe neurodevelopmental disorders.

Clara Houdayer, A Marie Phillips, Marie Chabbert

|May 27, 2021

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.

Bradley Bowles, Alejandro Ferrer, Carla J Nishimura

|May 18, 2021

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.

Caroline Dias, Rolph Pfundt, Tjitske Kleefstra

|Jul 31, 2020

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.

Heidi Cope, Rebecca Spillmann, Jill A Rosenfeld

|May 24, 2020

A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome.

Jennifer A Sullivan, Nicholas Stong, Evan H Baugh

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Frequent Collaborators

2 joint publications

Heidi L Cope

1 joint publications

Lindsay C Burrage

1 joint publications

Jennifer E Posey

1 joint publications

Julian Martinez-Agosto

1 joint publications

Tawfeg Ben-Omran

1 joint publications

Christopher A Walsh

1 joint publications

Francois Lecoquierre

1 joint publications

Lance H Rodan

1 joint publications

A Marie Phillips

1 joint publications

Marie Chabbert

Frequent Collaborators

2 joint publications

Heidi L Cope

1 joint publications

Lindsay C Burrage

1 joint publications

Jennifer E Posey

1 joint publications

Julian Martinez-Agosto

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