Jennifer L. Cohen

Also affiliated with Duke Medical Center, Duke University Health System

MedicineBiochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 12 papers. Top paper: “Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects”.

Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects

Prenatal Diagnosis(2023)10.1002/pd.6460

N/A

0.740DataRank · unranked

24 citations

Beltran Borges, Billie R. Lianoglou, Juan Gonzalez‐Velez, Emma Canepa, Dane Munar +9 more

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.03.009

N/A

0.515DataRank · unranked

30 citations

Jennifer L. Cohen, Sarah E. Sheppard, Pavithran Guttipatti, Tsz Y. Lo, Natalie Weed +14 more

Prenatal Delivery of Enzyme Replacement Therapy to Fetuses Affected by Early‐Onset Lysosomal Storage Diseases

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2025)10.1002/ajmg.c.32132

N/A

0.447DataRank · unranked

13 citations

Emma Canepa, Irene J. Chang, Akos Herzeg, Billie R. Lianoglou, Priya S. Kishnani +4 more

Novel association of Dandy–Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63363

N/A

0DataRank · unranked

11 citations

Lucia Guidugli, Monia Hammer, Chelsea Barrows, Anne Gregor, Sangmoon Lee +9 more

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

npj Genomic Medicine(2024)10.1038/s41525-024-00398-9

N/A

0DataRank · unranked

3 citations

Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes +66 more

Machine Learning Quantification of Pulmonary Regurgitation Fraction from Echocardiography

Pediatric Cardiology(2024)10.1007/s00246-024-03511-y

N/A

0DataRank · unranked

3 citations

Son Q. Duong, Naveen Arivazhagan, David M. Barris, Surkhay Bebiya, Rosalie Castaldo +12 more

Pathogenic variants associated with speech/cognitive delay and seizures affect genes with expression biases in excitatory neurons and microglia in developing human cortex

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.07.01.601597

N/A

0DataRank · unranked

0 citations

Alexa C. Stone, Kayli Maney, Lauren Morris, Caroline F. Wright, Jillian H. Hurst +2 more

Fetal malformations of cortical development: review and clinical guidance

Brain(2025)10.1093/brain/awaf094

N/A

0DataRank · unranked

22 citations

Sonika Agarwal, Charu Venkatesan, Barbara Scelsa, Brigitte Vollmer, Tomo Tarui +13 more

Advancing precision care in pregnancy through a treatable fetal findings list

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.011

N/A

0DataRank · unranked

10 citations

Michael Duyzend, Sophia Adelson, Julie Yeo, Mark D. Fleming, Rebecca Ganetzky +12 more

Cell-specific expression biases in human cortex of genes associated with neurodevelopmental disorders

Scientific Reports(2025)10.1038/s41598-025-05117-7

N/A

0DataRank · unranked

5 citations

Alexa C. Stone, Kayli Maney, Lauren Morris, Caroline F. Wright, Jillian H. Hurst +2 more

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe’s Disease

New England Journal of Medicine(2022)10.1056/nejmoa2200587

N/A

0DataRank · unranked

122 citations

Pranesh Chakraborty, Karen Fung‐Kee‐Fung, Marisa E. Schwab, Deeksha Bali, Sarah P. Young +16 more

When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2023)10.1002/ajmg.c.32036

N/A

0DataRank · unranked

20 citations

Michele Caggana, Jennifer L. Cohen, Nina B. Gold, Jill A. Morris, Joseph J. Orsini +3 more