Cathy A. Stevens

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 6 papers. Top paper: “Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features”.

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

UNC Libraries(2020)10.17615/acnn-yv48

N/A

0DataRank · unranked

4 citations

Susan K. Sell, Cathy A. Stevens, Deborah Terespolsky, S. Noyce Ryan, Zheng Fan +27 more

A dyadic approach to the delineation of diagnostic entities in clinical genomics

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2020.11.013

N/A

0DataRank · unranked

116 citations

Margaret P Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita E. Beck +42 more

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62124

N/A

0DataRank · unranked

72 citations

Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson +95 more

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome

Molecular Genetics and Metabolism(2021)10.1016/s1096-7192(21)00373-5

N/A

0DataRank · unranked

1 citations

Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson +95 more

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2021.12.011

N/A

0DataRank · unranked

24 citations

Frédéric Ebstein, Alice Mollé, Thomas Besnard, Ming-Kang Lee, Virginie Vignard +53 more

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63247

N/A

0DataRank · unranked

41 citations

Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Audrey Lawrence +92 more