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Genetics

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Medicine

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Overview

James L. Weber is affiliated with Marshfield Clinic in the United States. Their research primarily spans the field of Biochemistry, Genetics and Molecular Biology, with a significant focus on Molecular Biology, Genetics, Cardiology and Cardiovascular Medicine, Physiology, and Environmental Engineering.

The scientist's work covers a range of topics including:

  • Genomics and Rare Diseases
  • Ion channel regulation and function
  • Cancer-related gene regulation
  • RNA modifications and cancer
  • RNA Research and Splicing
  • Erythrocyte Function and Pathophysiology
  • Cardiac electrophysiology and arrhythmias

Among the frequent co-authors collaborating with James L. Weber are:

  • Robert T. Dirksen
  • Thierry Girard
  • Philip M. Hopkins
  • Sheila Riazi
  • Kathryn M. Stowell

The publication venues where Weber has been frequently published include:

  • Genetics in Medicine
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Human Molecular Genetics
  • Anesthesiology
  • arXiv (Cornell University)

Recent papers authored or co-authored by James L. Weber are:

  • Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility, 2021, Genetics in Medicine
  • Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility, 2022, Human Molecular Genetics
  • Genomic Screening for Malignant Hyperthermia Susceptibility, 2020, Anesthesiology
  • Enhanced weathering in the U.S. Corn Belt delivers carbon removal with agronomic benefits, 2023, arXiv (Cornell University)
  • Variant Curation Expert Panel Recommendations for RYR1 Pathogenicity Assertions in Malignant Hyperthermia Susceptibility, 2020, bioRxiv (Cold Spring Harbor Laboratory)

Best Publications

  • Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

    J L Weber;P E May

  • Genetic Structure of Human Populations

    Noah A. Rosenberg;Jonathan K. Pritchard;James L. Weber;Howard M. Cann

  • A Human Genome Diversity Cell Line Panel

    Howard M. Cann;Claudia De Toma;Lucien Cazes;Marie Fernande Legrand

  • Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms.

    James L. Weber

  • Mutation of human short tandem repeats

    James L. Weber;Carmen Wong

  • The Genetic Structure and History of Africans and African Americans

    Sarah A. Tishkoff;Floyd A. Reed;Françoise R. Friedlaender;Christopher Ehret

  • Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14.

    Gerard D. Schellenberg;Thomas D. Bird;Ellen M. Wijsman;Harry T. Orr

  • Comprehensive human genetic maps: individual and sex-specific variation in recombination.

    Karl W. Broman;Jeffrey C. Murray;Val C. Sheffield;Raymond L. White

  • Genetic Mapping of a Locus Predisposing to Human Colorectal Cancer

    Päivi Peltomäki;Lauri A. Aaltonen;Pertti Sistonen;Lea Pylkkänen

  • A familial Alzheimer's disease locus on chromosome 1

    Ephrat Levy-Lahad;Ellen M. Wijsman;Ellen Nemens;Leojean Anderson

  • A genome-wide search for asthma susceptibility loci in ethnically diverse populations

    David G. Marsh;Nancy E. Maestri;Linda R. Freidhoff;Kathleen C. Barnes

  • Structure of the Gene Encoding the Immunodominant Surface Antigen on the Sporozoite of the Human Malaria Parasite Plasmodium falciparum

    J B Dame;J L Williams;T F McCutchan;J L Weber

  • Quantitative trait loci on chromosomes 3 and 17 influence phenotypes of the metabolic syndrome

    Ahmed H. Kissebah;Gabriele E. Sonnenberg;Joel Myklebust;Michael Goldstein

  • Survey of human and rat microsatellites.

    Jacques S. Beckmann;James L. Weber

  • Survey of plant short tandem DNA repeats

    Z. Wang;J. L. Weber;G. Zhong;S. D. Tanksley

  • A comprehensive human linkage map with centimorgan density

    J C Murray;K H Buetow;J L Weber;S Ludwigsen

  • Human whole-genome shotgun sequencing.

    James L. Weber;Eugene W. Myers

  • Identification of novel susceptibility loci for inflammatory bowel disease on chromosomes 1p, 3q, and 4q: Evidence for epistasis between 1p and IBD1

    Judy H. Cho;Dan L. Nicolae;Leslee H. Gold;Carter T. Fields

  • The Genetic Structure of Pacific Islanders

    Jonathan S. Friedlaender;Francoise R. Friedlaender;Floyd A. Reed;Kenneth K. Kidd

  • Human Diallelic Insertion/Deletion Polymorphisms

    James L. Weber;Donna David;Jeremy Heil;Ying Fan

Frequent Co-Authors

Anne E. Kwitek
Anne E. Kwitek Medical College of Wisconsin
Karl W. Broman
Karl W. Broman University of Wisconsin–Madison
Kenneth K. Kidd
Kenneth K. Kidd Yale University
Val C. Sheffield
Val C. Sheffield University of Iowa
Kenneth H. Buetow
Kenneth H. Buetow Arizona State University
Jeffrey C. Murray
Jeffrey C. Murray University of Iowa
Jean Weissenbach
Jean Weissenbach Centre national de la recherche scientifique, CNRS
Leslie G. Biesecker
Leslie G. Biesecker National Institutes of Health
David H. Ledbetter
David H. Ledbetter University of Florida
Peter Heutink
Peter Heutink German Center for Neurodegenerative Diseases

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