Jennifer L Cohen

ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 6

Top Venues

American journal of medical genetics. Part A

Journal of personalized medicine

Cold Spring Harbor molecular case studies

Duke University

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Duke University Sep 01 2019

United States

Assistant Professor of Pediatrics, Division of Medical Genetics :: Pediatrics, Division of Medical Genetics

Publications

M Makenzie Beaman, Lucia Guidugli, Monia Hammer, Chelsea Barrows, Anne Gregor, Sangmoon Lee, Kristen L Deak, Marie T McDonald, Courtney Jensen, Maha Saad Zaki, Amira T Masri, Charlotte A Hobbs, Joseph G Gleeson, Jennifer L Cohen
Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome. American journal of medical genetics. Part A (2023)
M Makenzie Beaman, Kimberley Fisher, Marie McDonald, Queenie K G Tan, David Jackson, Benjamin T Cocanougher, Andrew P Landstrom, Charlotte A Hobbs, Michael Cotten, Jennifer L Cohen
Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline. Journal of personalized medicine 12 (11) (2022)
Kristen Lee Buehne, Sarah Hart, Bradley Williams, Jennifer L Cohen
Novel PAX6 variant in a family with ophthalmologic, pancreatic, and olfactory features. Cold Spring Harbor molecular case studies (2021)
Jennifer L Cohen, Samantha A Schrier Vergano, Sarah Mazzola, Alanna Strong, Beth Keena, Carey McDougall, Alyssa L Ritter, Dong Li, Emma C Bedoukian, Leah W Burke, Amber Hoffman, Victoria Zurcher, Ian D Krantz, Kosuke Izumi, Elizabeth Joyce Bhoj, Elaine H Zackai, Matthew A Deardorff
EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients. American journal of medical genetics. Part A 182 (12) (2020)
Jennifer L Cohen, Kelly A Duffy, Brian J Sajorda, Evan R Hathaway, Christina X Gonzalez-Gandolfi, Jennifer Richards-Yutz, Andrew T Gunter, Arupa Ganguly, Julie Kaplan, Matthew A Deardorff, Jennifer M Kalish
Diagnosis and management of the phenotypic spectrum of twins with Beckwith-Wiedemann syndrome. American journal of medical genetics. Part A 179 (7) (2019)
Jennifer L Cohen, Terrence Blaine Crowley, Daniel E McGinn, Carey McDougall, Marta Unolt, Michele P Lambert, Beverly S Emanuel, Elaine H Zackai, Donna M McDonald-McGinn
22q and two: 22q11.2 deletion syndrome and coexisting conditions. American journal of medical genetics. Part A 176 (10) (2018)

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Publication Activity (10 Years)

Top Topics

Top Venues

Jennifer L Cohen