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Genetics

D-Index
64
Citations
149987
World Ranking
2723
National Ranking
1193

Overview

Daniel C. Koboldt is affiliated with The Ohio State University in the United States and has contributed extensively to the fields of biochemistry, genetics, molecular biology, and medicine. Their research focuses significantly on genetics, molecular biology, and related subfields including cancer research, pediatrics, perinatology, child health, and cell biology.

The scientist's main research topics include genomics and rare diseases, genetics and neurodevelopmental disorders, genomic variations and chromosomal abnormalities, cancer genomics and diagnostics, RNA modifications and cancer, RNA and protein synthesis mechanisms, and epigenetics and DNA methylation.

Daniel C. Koboldt has published numerous papers in prominent venues, with frequent appearances in bioRxiv (Cold Spring Harbor Laboratory), Molecular Case Studies, The American Journal of Human Genetics, Molecular Genetics and Metabolism, and Genetics in Medicine Open.

Recent notable publications include:

  • Best practices for variant calling in clinical sequencing, 2020, Genome Medicine
  • Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy, 2020, The American Journal of Human Genetics
  • Detection of brain somatic variation in epilepsy-associated developmental lesions, 2022, Epilepsia
  • Cerebral organoids containing an AUTS2 missense variant model microcephaly, 2022, Brain
  • PTEN somatic mutations contribute to spectrum of cerebral overgrowth, 2021, Brain

Throughout their career, they have collaborated frequently with the following researchers:

  • Richard K. Wilson
  • Peter White (24 collaborations)
  • Elaine R. Mardis (21 collaborations)
  • Vincent Magrini (18 collaborations)
  • Catherine E. Cottrell (17 collaborations)

Best Publications

  • A global reference for human genetic variation.

    Adam Auton;Gonçalo R. Abecasis;David M. Altshuler;Richard M. Durbin

  • An integrated map of genetic variation from 1,092 human genomes

    Goncalo R Abecasis;Adam Auton;Lisa D Brooks

  • Comprehensive molecular portraits of human breast tumours

    Daniel C. Koboldt;Robert S. Fulton;Michael D. McLellan;Heather Schmidt

  • Table S2: Trans-factors and trinucleotide repeat instability Trans-factor

    Arturo López Castel;John D Cleary;Christopher E Pearson

  • The cancer genome atlas pan-cancer analysis project

    John N Weinstein;John N Weinstein;Eric A. Collisson;Gordon B Mills;Kenna R Mills Shaw;Kenna R Mills Shaw

  • Comprehensive molecular characterization of human colon and rectal cancer

    Donna M. Muzny;Matthew N. Bainbridge;Kyle Chang;Huyen H. Dinh

  • Integrated genomic analyses of ovarian carcinoma

    D. Bell;A. Berchuck;M. Birrer;J. Chien

  • Comprehensive genomic characterization defines human glioblastoma genes and core pathways

    Roger McLendon;Allan Friedman;Darrell Bigner;Erwin G. Van Meir

  • Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia

    Timothy J. Ley;Christopher Miller;Li Ding;Benjamin J. Raphael

  • A haplotype map of the human genome

    John W. Belmont;Andrew Boudreau;Suzanne M. Leal;Paul Hardenbol

  • A second generation human haplotype map of over 3.1 million SNPs

    Kelly A. Frazer;Dennis G. Ballinger;David R. Cox;David A. Hinds

  • VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

    Daniel C. Koboldt;Qunyuan Zhang;David E. Larson;Dong Shen

  • Somatic mutations affect key pathways in lung adenocarcinoma

    Li Ding;Gad Getz;David A. Wheeler;Elaine R. Mardis

  • Recurring mutations found by sequencing an acute myeloid leukemia genome.

    Elaine R. Mardis;Li Ding;David J. Dooling;David E. Larson

  • Genome-wide detection and characterization of positive selection in human populations

    Pardis C. Sabeti;Pardis C. Sabeti;Patrick Varilly;Patrick Varilly;Ben Fry;Jason Lohmueller

  • Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing

    Li Ding;Timothy J. Ley;David E. Larson;Christopher A. Miller

  • DNMT3A Mutations in Acute Myeloid Leukemia

    Timothy J. Ley;Li Ding;Matthew J. Walter;Michael D. McLellan

  • The origin and evolution of mutations in acute myeloid leukemia.

    John S. Welch;Timothy J. Ley;Daniel C. Link;Christopher A. Miller

  • The Cancer Genome Atlas Pan-Cancer analysis project

    Kyle Chang;Chad J Creighton;Caleb Davis;Lawrence Donehower

  • Integrated genomic analyses of ovarian carcinoma

    D. Bell;A. Berchuck;M. Birrer;J. Chien

Frequent Co-Authors

Elaine R. Mardis
Elaine R. Mardis The Ohio State University
Richard K. Wilson
Richard K. Wilson Nationwide Children's Hospital
Li Ding
Li Ding Washington University in St. Louis
Robert S. Fulton
Robert S. Fulton Washington University in St. Louis
David E. Larson
David E. Larson Washington University in St. Louis
Michael D. McLellan
Michael D. McLellan Washington University in St. Louis
Vincent Magrini
Vincent Magrini The Ohio State University
Timothy J. Ley
Timothy J. Ley Washington University in St. Louis
Lucinda Fulton
Lucinda Fulton Washington University in St. Louis
Ken Chen
Ken Chen The University of Texas MD Anderson Cancer Center

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