Ana S.A. Cohen

Also affiliated with University of Missouri–Kansas City

Biochemistry, 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 10 papers. Top paper: “Variants in the zinc transporterTMEM163cause a hypomyelinating leukodystrophy”.

Variants in the zinc transporterTMEM163cause a hypomyelinating leukodystrophy

Brain(2022)10.1093/brain/awac295

N/A

0.449DataRank · unranked

19 citations

Guillermo Rodríguez Bey, Bruce Nmezi, Fang Liu, Talia DeFrancesco Oranburg, Ana S.A. Cohen +13 more

Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay

Molecular Case Studies(2021)10.1101/mcs.a005991

N/A

0.241DataRank · unranked

4 citations

Ana S.A. Cohen, Cathryn Poulton, Tina Duelund Hjortshøj, Moe Akahira‐Azuma, Geetu Mendiratta +10 more

Committing to genomic answers for all kids: Evaluating inequity in genomic research enrollment

Genetics in Medicine(2023)10.1016/j.gim.2023.100895

N/A

0DataRank · unranked

18 citations

Ana S.A. Cohen, Courtney Berrios, Bridgette L. Jones, Tomi Pastinen, Mark A. Hoffman +1 more

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy

medRxiv(2023)10.1101/2023.03.27.23287689

N/A

0DataRank · unranked

3 citations

Sydney L. Michener, Hongling Pan, Jessica M. Pfliger, Jill A. Rosenfeld, Vanesa Lerma +40 more

Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.03.016

N/A

0DataRank · unranked

21 citations

Courtney Berrios, Tricia Zion, Cassandra Barrett, Riley Moore, Emelia Boillat +6 more

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2023.12.004

N/A

0DataRank · unranked

14 citations

Sydney L. Michener, Hongling Pan, Hiuling Chan, Jessica M. Pfliger, Jill A. Rosenfeld +95 more

Complex trait associations in rare diseases and impacts on Mendelian variant interpretation

Nature Communications(2024)10.1038/s41467-024-52407-1

N/A

0DataRank · unranked

9 citations

Bing Ge, Marissa R. Keever-Keigher, Carl Schwendinger-Schreck, Warren Cheung, Jeffrey Johnston +8 more

Complex trait associations in rare diseases and impacts on Mendelian variant interpretation

medRxiv(2024)10.1101/2024.01.10.24301111

N/A

0DataRank · unranked

3 citations

Bing Ge, Marissa R. Keever-Keigher, Carl Schwendinger-Schreck, Warren Cheung, Jeffrey Johnston +8 more

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome

medRxiv(2025)10.1101/2025.05.06.25326635

N/A

0DataRank · unranked

2 citations

Eirny Tholl Thorolfsdottir, Ilana M. Nodelman, Sara Tholl Halldorsdottir, Stefania Benónísdóttir, Malak Alghamdi +64 more

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

Brain(2023)10.1093/brain/awad403

N/A

0DataRank · unranked

27 citations

Allan Bayat, Linda G. Zachariassen, Jiahui Sun, Yu-Han Ge, Dan Zhao +82 more