Jennifer Friedman

Biochemistry, Genetics and Molecular BiologyMedicineNeuroscience

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 11 papers. Top paper: “Domain specific phenotypic expansion associated with variants in MACF1”.

Domain specific phenotypic expansion associated with variants in MACF1

medRxiv(2025)10.1101/2025.06.26.25330137

N/A

0.104DataRank · unranked

1 citations

Angad Jolly, Jill A. Rosenfeld, Paulina Bahena-Carbajal, Jonathan A. Bernstein, Devon Bonner +27 more

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Genetics in Medicine(2020)10.1038/s41436-020-01020-w

N/A

0DataRank · unranked

47 citations

Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker +53 more

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Genome Medicine(2021)10.1186/s13073-021-00870-6

N/A

0DataRank · unranked

117 citations

Tianyun Wang, Kendra Hoekzema, Jill A. Rosenfeld, Pengfei Liu, Hui Guo +95 more

Caenorhabditis elegans provides an efficient drug screening platform for GNAO1 -related disorders and highlights the potential role of caffeine in controlling dyskinesia

Human Molecular Genetics(2021)10.1093/hmg/ddab296

N/A

0DataRank · unranked

45 citations

Serena Galosi, Enrico Lanza, Federica Tosato, Davide Caprini, Viola Folli +7 more

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

Human Genetics(2021)10.1007/s00439-021-02283-2

N/A

0DataRank · unranked

36 citations

Daphné Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person +40 more

An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.10.003

N/A

0DataRank · unranked

191 citations

Michelle M. Clark, Mary Gaughran, Julie A. Cakici, Sara Caylor, Christina Clarke +62 more

Approaches to long-read sequencing in a clinical setting to improve diagnostic rate

Scientific Reports(2022)10.1038/s41598-022-20113-x

N/A

0DataRank · unranked

56 citations

Serge Batalov, Aaron M. Wenger, Christine Lambert, Harsharan Dhillon, Richard Hall +8 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

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.05.001

N/A

0DataRank · unranked

13 citations

Maria Carla Borroto, Sadegheh Haghshenas, A Namasivayam, Jack Reilly, Michael A. Levy +61 more

Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants

Annals of Clinical and Translational Neurology(2025)10.1002/acn3.52225

N/A

0DataRank · unranked

3 citations

Dimah Saade, Pinki Munot, Chamindra G. Laverty, Hailey Pinz, Yaqun Zou +24 more

Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG

Journal of Inherited Metabolic Disease(2021)10.1002/jimd.12367

N/A

0DataRank · unranked

21 citations

Bobby G. Ng, Earnest James Paul Daniel, Jennifer Friedman, Enikö K. Pivnick, Amal Alhashem +15 more