Cornelius F. Boerkoel

Also affiliated with University of British Columbia, Children's & Women's Health Centre of British Columbia, BC Children's Hospital, B.C. Women's Hospital & Health Centre

Biochemistry, Genetics and Molecular BiologyImmunology and MicrobiologyNeuroscience

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 5 papers. Top paper: “The GA4GH Phenopacket schema defines a computable representation of clinical data”.

The GA4GH Phenopacket schema defines a computable representation of clinical data

Nature Biotechnology(2022)10.1038/s41587-022-01357-4

N/A

2.4DataRank · unranked

111 citations

Michael Baudis, Gareth Baynam, J. Beckmann, Sergi Beltrán, Orion J. Buske +62 more

The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice

Genetics in Medicine(2022)10.1016/j.gim.2022.03.013

N/A

0.329DataRank · unranked

7 citations

Nour Gazzaz, Stephanie Huynh, Julia Handra, Lynn Warnock, Ashley Moller‐Hansen +15 more

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.003

N/A

0DataRank · unranked

46 citations

Maya M. Polovitskaya, Héctor Gaitán‐Peñas, Sara Bertelli, Grace E. VanNoy, P. Ellen Grant +34 more

Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability?

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63232

N/A

0DataRank · unranked

7 citations

Duha Hejla, Hyun Kyung Lee, Jenea Barbara Lyles, Yunhan Yang, Kun Chen +4 more

Tandem splice acceptor sites: Profiling their relevance to human disease

Genetics in Medicine(2025)10.1016/j.gim.2025.101520

N/A

0DataRank · unranked

0 citations

Shaopeng Gu, Adrienne Elbert, Stephanie Huynh, Hyun Kyung Lee, May Christine V. Malicdan +3 more