Cornelius F. Boerkoel

Overview

Best Publications

• The Human Phenotype Ontology in 2017

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

  826
  Citations

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

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

  715
  Citations

• 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

  566
  Citations

• 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

  453
  Citations

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

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

  357
  Citations

• 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

  352
  Citations

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

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

  328
  Citations

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

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

  316
  Citations

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

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

  291
  Citations

• 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

  275
  Citations

• Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy

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

  256
  Citations

• Detecting false-positive signals in exome sequencing†

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

  186
  Citations

• 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

  181
  Citations

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

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

  179
  Citations

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

  Ryuki Hirano;Heidrun Interthal;Cheng Huang;Tomonori Nakamura

  172
  Citations

• 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

  168
  Citations

• 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

  160
  Citations

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

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

  154
  Citations

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

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

  152
  Citations

• Periaxin mutations cause a broad spectrum of demyelinating neuropathies

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

  119
  Citations