Jennifer Sullivan
6PUBLICATIONS
62CO-AUTHORS
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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 HCN2 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
