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Cornelius F. Boerkoel

Cornelius F. Boerkoel

University of British Columbia
Canada

D-Index & Metrics

Biology and Biochemistry

D-Index
55
Citations
11808
World Ranking
14980
National Ranking
528

Cornelius F. Boerkoel publication distribution in Biology and Biochemistry in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Biology and Biochemistry in 2026. The highlighted bar marks where Cornelius F. Boerkoel sits on this spectrum.

47–56 publications: 8 scientists 57–66 publications: 35 scientists 67–76 publications: 106 scientists 77–86 publications: 231 scientists 87–96 publications: 414 scientists 97–106 publications: 546 scientists 107–116 publications: 704 scientists 117–126 publications: 849 scientists 127–136 publications: 980 scientists 137–146 publications: 942 scientists 147–156 publications: 969 scientists 157–166 publications: 950 scientists 167–176 publications: 951 scientists 177–186 publications: 915 scientists 187–196 publications: 787 scientists 197–206 publications: 841 scientists 207–216 publications: 735 scientists 217–226 publications: 709 scientists 227–236 publications: 651 scientists 237–246 publications: 605 scientists 247–256 publications: 510 scientists 257–266 publications: 524 scientists 267–276 publications: 434 scientists 277–286 publications: 418 scientists 287–296 publications: 350 scientists 297–306 publications: 363 scientists 307–316 publications: 315 scientists 317–326 publications: 296 scientists 327–336 publications: 261 scientists 337–346 publications: 240 scientists 347–356 publications: 219 scientists 357–366 publications: 197 scientists 367–376 publications: 154 scientists 377–386 publications: 161 scientists 387–396 publications: 155 scientists 397–406 publications: 145 scientists 407–416 publications: 124 scientists 417–426 publications: 112 scientists 427–436 publications: 132 scientists 437–446 publications: 116 scientists 447–456 publications: 99 scientists 457–466 publications: 81 scientists 467–476 publications: 91 scientists 477–486 publications: 80 scientists 487–496 publications: 80 scientists 497–506 publications: 60 scientists 507–516 publications: 36 scientists 517–526 publications: 46 scientists 527–536 publications: 54 scientists 537–546 publications: 44 scientists 547–556 publications: 43 scientists 557–566 publications: 43 scientists 567–576 publications: 42 scientists 577–586 publications: 25 scientists 587–596 publications: 34 scientists 597–606 publications: 23 scientists 607–616 publications: 33 scientists 617–626 publications: 31 scientists 627–636 publications: 27 scientists 637–646 publications: 25 scientists 647–656 publications: 28 scientists 657–666 publications: 34 scientists 667–676 publications: 18 scientists 677–686 publications: 16 scientists 687–696 publications: 10 scientists 697–706 publications: 12 scientists 707–716 publications: 21 scientists 717–726 publications: 12 scientists 727–736 publications: 12 scientists 737–746 publications: 10 scientists 747–756 publications: 7 scientists 757–766 publications: 13 scientists 767–776 publications: 15 scientists 777–786 publications: 13 scientists 787–796 publications: 9 scientists 797–806 publications: 9 scientists 807–816 publications: 7 scientists 817–826 publications: 4 scientists 827–836 publications: 9 scientists 837–846 publications: 7 scientists 847–856 publications: 3 scientists 857–866 publications: 5 scientists 867–876 publications: 5 scientists 877–886 publications: 11 scientists 887–896 publications: 3 scientists 897–906 publications: 4 scientists 907–916 publications: 7 scientists 917–926 publications: 5 scientists 927–936 publications: 6 scientists 937–946 publications: 6 scientists 947–956 publications: 3 scientists 957–966 publications: 7 scientists 967–976 publications: 2 scientists 977–986 publications: 2 scientists 987–996 publications: 1 scientists 997–1,006 publications: 5 scientists 1,007–1,016 publications: 2 scientists 1,017–1,026 publications: 2 scientists 1,027 publications: 1 scientists 1,028+ publications: 100 scientists
47 publications 1,028+

This scientist: 199 publications — 49th percentile

49% of scientists in this discipline score the same or lower.

The last bar groups every scientist with 1,028 publications or more.

Cornelius F. Boerkoel D-index placement in Biology and Biochemistry in 2026

The chart shows the D-index (discipline H-index) distribution of Biology and Biochemistry scientists ranked by Research.com in 2026. The highlighted bar marks where Cornelius F. Boerkoel sits on this spectrum.

40–41 D-Index: 80 scientists 42–43 D-Index: 183 scientists 44–45 D-Index: 317 scientists 46–47 D-Index: 504 scientists 48–49 D-Index: 718 scientists 50–51 D-Index: 900 scientists 52–53 D-Index: 1,026 scientists 54–55 D-Index: 1,150 scientists 56–57 D-Index: 1,236 scientists 58–59 D-Index: 1,253 scientists 60–61 D-Index: 1,163 scientists 62–63 D-Index: 1,131 scientists 64–65 D-Index: 1,032 scientists 66–67 D-Index: 897 scientists 68–69 D-Index: 814 scientists 70–71 D-Index: 715 scientists 72–73 D-Index: 709 scientists 74–75 D-Index: 596 scientists 76–77 D-Index: 512 scientists 78–79 D-Index: 473 scientists 80–81 D-Index: 412 scientists 82–83 D-Index: 373 scientists 84–85 D-Index: 358 scientists 86–87 D-Index: 285 scientists 88–89 D-Index: 273 scientists 90–91 D-Index: 227 scientists 92–93 D-Index: 208 scientists 94–95 D-Index: 193 scientists 96–97 D-Index: 153 scientists 98–99 D-Index: 157 scientists 100–101 D-Index: 148 scientists 102–103 D-Index: 120 scientists 104–105 D-Index: 113 scientists 106–107 D-Index: 100 scientists 108–109 D-Index: 86 scientists 110–111 D-Index: 67 scientists 112–113 D-Index: 72 scientists 114–115 D-Index: 73 scientists 116–117 D-Index: 64 scientists 118–119 D-Index: 53 scientists 120–121 D-Index: 60 scientists 122–123 D-Index: 54 scientists 124–125 D-Index: 43 scientists 126–127 D-Index: 38 scientists 128–129 D-Index: 49 scientists 130–131 D-Index: 26 scientists 132–133 D-Index: 18 scientists 134–135 D-Index: 23 scientists 136–137 D-Index: 32 scientists 138–139 D-Index: 32 scientists 140–141 D-Index: 27 scientists 142–143 D-Index: 19 scientists 144–145 D-Index: 22 scientists 146–147 D-Index: 12 scientists 148–149 D-Index: 16 scientists 150–151 D-Index: 14 scientists 152–153 D-Index: 10 scientists 154–155 D-Index: 13 scientists 156–157 D-Index: 10 scientists 158–159 D-Index: 7 scientists 160–161 D-Index: 9 scientists 162–163 D-Index: 13 scientists 164–165 D-Index: 4 scientists 166 D-Index: 4 scientists 167+ D-Index: 98 scientists
40 D-Index 167+

This scientist: 55 D-Index — 25th percentile

25% of scientists in this discipline score the same or lower.

The last bar groups every scientist with 167 D-Index or more.

Overview

Cornelius F. Boerkoel is affiliated with the University of British Columbia in Canada and focuses on research in the fields of Biochemistry, Genetics and Molecular Biology, and Medicine. Their work spans multiple subfields including Genetics, Molecular Biology, Pediatrics, Perinatology and Child Health, Cancer Research, and Pathology and Forensic Medicine.

Their research covers key topics such as:

  • Genomics and Rare Diseases
  • Genomic variations and chromosomal abnormalities
  • RNA modifications and cancer
  • Genetics and Neurodevelopmental Disorders
  • Congenital heart defects research
  • Prenatal Screening and Diagnostics
  • Cancer Genomics and Diagnostics

Boerkoel has published extensively in scientific journals with frequent contributions to:

  • American Journal of Medical Genetics Part A
  • Molecular Genetics and Metabolism
  • Genetics in Medicine
  • Genetics in Medicine Open
  • Journal of Medical Genetics

Recent papers authored or co-authored by Boerkoel include:

  • The GA4GH Phenopacket schema defines a computable representation of clinical data (2022, Nature Biotechnology)
  • Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders (2021, The American Journal of Human Genetics)
  • Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study (2022, Human Genetics and Genomics Advances)
  • Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications (2021, Molecular Case Studies)
  • Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines (2022, Prenatal Diagnosis)

Collaborations constitute an important aspect of Boerkoel's work, with frequent co-authors including Hui-Lin Chin, Stephanie Huynh, Nour Gazzaz, Anna Lehman, and Steven J.M. Jones.

Best Publications

  • The Human Phenotype Ontology in 2017

    Sebastian Köhler;Nicole A. Vasilevsky;Mark Engelstad;Erin D. Foster

  • Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

    Sebastian Köhler;Leigh Carmody;Nicole A. Vasilevsky;Julius O. B. Jacobsen

  • Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.

    Hiroshi Takashima;Cornelius F. Boerkoel;Joy John;Gulam Mustafa Saifi

  • Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

    Gayle B Collin;Jan D Marshall;Akihiro Ikeda;W Venus So

  • Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

    Cornelius F. Boerkoel;Hiroshi Takashima;Joy John;Jiong Yan

  • Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

    A. Jordanova;P. De Jonghe;C. F. Boerkoel;H. Takashima

  • Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

    Cornelius F. Boerkoel;Hiroshi Takashima;Carlos A. Garcia;Richard K. Olney

  • The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

    William A. Gahl;Thomas C. Markello;Camilo Toro;Karin Fuentes Fajardo

  • GRIN2A mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine

    Tyler Mark Pierson;Hongjie Yuan;Eric D. Marsh;Karin Fuentes-Fajardo

  • NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules

    Meral Gunay-Aygun;Tzipora C Falik-Zaccai;Thierry Vilboux;Yifat Zivony-Elboum

  • Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy

    Cornelius F. Boerkoel;Hiroshi Takashima;Pawel Stankiewicz;Carlos A. Garcia

  • Detecting false-positive signals in exome sequencing†

    Karin V Fuentes Fajardo;David Adams;Nisc Comparative Sequencing Program;Christopher E Mason

  • Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature

    C. F. Boerkoel;S. O'Neill;J. L. André;P. J. Benke

  • Retroviral mutagenesis of cellular oncogenes: a review with insights into the mechanisms of insertional activation.

    Hsing-Jien Kung;C. Boerkoel;T. H. Carter

  • Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?

    Ryuki Hirano;Heidrun Interthal;Cheng Huang;Tomonori Nakamura

  • Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.

    C F Boerkoel;R Exelbert;C Nicastri;R C Nichols

  • Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy

    Hongjie Yuan;Kasper B. Hansen;Jing Zhang;Tyler Mark Pierson

  • Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation.

    Ken Inoue;Konstantin Shilo;Cornelius F. Boerkoel;Carol Crowe

  • Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease

    Marc-Phillip Hitz;Louis-Philippe Lemieux-Perreault;Christian Marshall;Yassamin Feroz-Zada

  • Periaxin mutations cause a broad spectrum of demyelinating neuropathies

    Hiroshi Takashima;Cornelius F. Boerkoel;Peter De Jonghe;Chantal Ceuterick

Frequent Co-Authors

William A. Gahl
William A. Gahl National Institutes of Health
James R. Lupski
James R. Lupski Baylor College of Medicine
Melissa A. Haendel
Melissa A. Haendel University of Colorado Anschutz Medical Campus
James C. Mullikin
James C. Mullikin National Institutes of Health
Peter N. Robinson
Peter N. Robinson The Jackson Laboratory
Rosanna Weksberg
Rosanna Weksberg University of Toronto
Wendy P. Robinson
Wendy P. Robinson University of British Columbia
Dominique Bonneau
Dominique Bonneau University of Angers
Marco A. Marra
Marco A. Marra University of British Columbia
Steven J.M. Jones
Steven J.M. Jones University of British Columbia

External Links

Personal website of Cornelius F. Boerkoel

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Best Scientists Citing Cornelius F. Boerkoel

William A. Gahl

William A. Gahl

National Institutes of Health

Publications: 54

James R. Lupski

James R. Lupski

Baylor College of Medicine

Publications: 46

Melissa A. Haendel

Melissa A. Haendel

University of Colorado Anschutz Medical Campus

Publications: 45

Yves Pommier

Yves Pommier

National Institutes of Health

Publications: 43

Peter N. Robinson

Peter N. Robinson

The Jackson Laboratory

Publications: 42

Keith W. Caldecott

Keith W. Caldecott

University of Sussex

Publications: 33

Robert Hoehndorf

Robert Hoehndorf

King Abdullah University of Science and Technology

Publications: 30

Michael E. Shy

Michael E. Shy

University of Iowa

Publications: 29

Heidi L. Rehm

Heidi L. Rehm

Brigham and Women's Hospital

Publications: 28

Stephen F. Traynelis

Stephen F. Traynelis

Emory University

Publications: 27

Olga I. Lavrik

Olga I. Lavrik

Russian Academy of Sciences

Publications: 26

Damian Smedley

Damian Smedley

Queen Mary University of London

Publications: 25

Peter J. McKinnon

Peter J. McKinnon

St. Jude Children's Research Hospital

Publications: 24

Vincent Timmerman

Vincent Timmerman

University of Antwerp

Publications: 24

Hanns Lochmüller

Hanns Lochmüller

University of Freiburg

Publications: 22

Hongjie Yuan

Hongjie Yuan

Emory University

Publications: 21

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