Jennifer A Lee
4PUBLICATIONS
12CO-AUTHORS
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Publications (4)
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|Dec 17, 2025
Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses.Yutaka Furuta, Kimberly M Ezell, Rizwan Hamid
|Aug 27, 2019
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.Hadia Hijazi, Fernanda S Coelho, Claudia Gonzaga-Jauregui
|Aug 10, 2019
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.Renee Bend, Lior Cohen, Melissa T Carter
|Mar 13, 2019
Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?Catherine J Spellicy, Yunhui Peng, Leah Olewiler
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Frequent Collaborators
2 joint publications
Claudia Gonzaga-Jauregui
1 joint publications
Sara S Cathey
1 joint publications
Erin Torti
1 joint publications
Hadia Hijazi
1 joint publications
Laura Bernardini
1 joint publications
Andrea Hanson-Kahn
1 joint publications
Claudia M B Carvalho
1 joint publications
Grace M Hobson
1 joint publications
James R Lupski
1 joint publications
Yutaka Furuta
