Laurie H Seaver
6PUBLICATIONS
53CO-AUTHORS
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Publications (6)
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|Apr 02, 2024
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.Clara Houdayer, A Marie Phillips, Marie Chabbert
|Feb 08, 2023
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.Alanna Strong, Soumya Rao, Sandra von Hardenberg
|Nov 02, 2021
N-methyl-d-aspartate (NMDA) receptor genetics: The power of paralog homology and protein dynamics in defining dominant genetic variants.Jacob G Charron, Angel Hernandez, Stephanie M Bilinovich
|Jun 09, 2021
Perinatal Manifestations of DARS2-Associated Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL).Julie Ngo, Jeremy W Prokop, Jason Umfleet
|Jun 18, 2019
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.Lauren B Carter, Agatino Battaglia, Athena Cherry
|Feb 28, 2019
Evolution of the phenotype of craniosynostosis with dental anomalies syndrome and report of IL11RA variant population frequencies in a Crouzon-like autosomal recessive syndrome.Nisha Korakavi, Jeremy W Prokop, Laurie H Seaver
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Frequent Collaborators
2 joint publications
Fowzan S Alkuraya
1 joint publications
Lauren B Carter
1 joint publications
Agatino Battaglia
1 joint publications
Leah Dowsett
1 joint publications
Anita E Beck
1 joint publications
Aglaia Vignoli
1 joint publications
Louanne Hudgins
1 joint publications
Julie Ngo
1 joint publications
Caleb P Bupp
1 joint publications
Jeremy W Prokop
