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Genetics

D-Index
52
Citations
10213
World Ranking
3792
National Ranking
1635

Overview

Christina A. Gurnett is affiliated with Washington University in St. Louis in the United States. Their research spans several fields, primarily focusing on biochemistry, genetics, and molecular biology, with additional work in medicine. Within these areas, their subfields of study include genetics, molecular biology, pediatrics, perinatology and child health, public health, environmental and occupational health, and cardiology and cardiovascular medicine.

The scientist's work addresses multiple main topics, including:

  • Genomics and rare diseases
  • Connective tissue disorders research
  • Neurogenetic and muscular disorders research
  • Genetics and neurodevelopmental disorders
  • Genomic variations and chromosomal abnormalities
  • Muscle physiology and disorders
  • Cardiomyopathy and myosin studies

Christina A. Gurnett has contributed to various scientific publications and has been involved in research published in venues such as:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • The American Journal of Human Genetics
  • Journal of Neurodevelopmental Disorders
  • Journal of Medical Genetics
  • PEDIATRICS

Frequent coauthors in their research include:

  • Matthew B. Dobbs
  • Gabe Haller
  • Tychele N. Turner
  • Lilian Antunes
  • Brooke Sadler

Significant recent publications authored or coauthored by Christina A. Gurnett encompass:

  • Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants, 2020, Cell
  • Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development, 2023, Nature Genetics
  • Diverse monogenic subforms of human spermatogenic failure, 2022, Nature Communications
  • Prevalence and Impact of Underlying Diagnosis and Comorbidities on Chiari 1 Malformation, 2020, Pediatric Neurology
  • The cartilage matrisome in adolescent idiopathic scoliosis, 2020, Bone Research

Best Publications

  • DICER1 Mutations in Familial Pleuropulmonary Blastoma

    D. Ashley Hill;D. Ashley Hill;Jennifer Ivanovich;John R. Priest;Christina A. Gurnett

  • Factors Predictive of Outcome After Use of the Ponseti Method for the Treatment of Idiopathic Clubfeet

    Matthew B. Dobbs;J.R. Rudzki;Derek B. Purcell;Tim Walton

  • Direct binding of G-protein βλ complex to voltage-dependent calcium channels

    Michel De Waard;Michel De Waard;Hongyan Liu;Denise Walker;Victoria E. S. Scott

  • Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

    Heather C. Mefford;Hiltrud Muhle;Philipp Ostertag;Sarah von Spiczak

  • Dual Function of the Voltage-Dependent Ca2+ Channel α2δ Subunit in Current Stimulation and Subunit Interaction

    Christina A Gurnett;Michel De Waard;Kevin P Campbell

  • A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome

    Nanda A. Singh;Chris Pappas;E. Jill Dahle;Lieve R. F. Claes

  • Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

    Hsien Yang Lee;Yong Huang;Yong Huang;Nadine Bruneau;Patrice Roll

  • Dissection of Functional Domains of the Voltage-Dependent Ca2+ Channel α2δ Subunit

    Ricardo Felix;Christina A. Gurnett;Michel De Waard;Kevin P. Campbell

  • A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome

    Alexander G. Bassuk;Robyn H. Wallace;Aimee Buhr;Andrew R. Buller

  • Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes

    Swarkar Sharma;Xiaochong Gao;Douglas Londono;Shonn E. Devroy

  • Identification of Three Subunits of the High Affinity ω-Conotoxin MVIIC-sensitive Ca2+ Channel

    Hongyan Liu;Hongyan Liu;Michel De Waard;Victoria E.S. Scott;Christina A. Gurnett

  • Structural and Functional Diversity of Voltage-Activated Calcium Channels

    Michel De Waard;Christina A. Gurnett;Kevin P. Campbell

  • Treatment of idiopathic clubfoot: an historical review.

    Dobbs Mb;Morcuende Ja;Gurnett Ca;Ponseti

  • β Subunit Heterogeneity in N-type Ca2+ Channels (∗)

    Victoria E.S. Scott;Michel De Waard;Hongyan Liu;Christina A. Gurnett

  • BRAF V600E mutation is a negative prognosticator in pediatric ganglioglioma

    Sonika Dahiya;Devon H. Haydon;David Alvarado;Christina A. Gurnett

  • Asymmetric Lower-Limb Malformations in Individuals with Homeobox PITX1 Gene Mutation

    Christina A. Gurnett;Farhang Alaee;Lisa M. Kruse;David M. Desruisseau

  • Extracellular Interaction of the Voltage-dependent Ca2+ Channel α2δ and α1 Subunits

    Christina A. Gurnett;Ricardo Felix;Kevin P. Campbell

  • Mutations in Prickle Orthologs Cause Seizures in Flies, Mice, and Humans

    Hirotaka Tao;J. Robert Manak;Levi Sowers;Xue Mei

  • Two novel point mutations in the long‐range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly

    Christina A. Gurnett;Anne M. Bowcock;Frederick R. Dietz;Jose A. Morcuende

  • Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants.

    Evgeny Z. Kvon;Yiwen Zhu;Guy Kelman;Catherine S. Novak

Frequent Co-Authors

Carol A. Wise
Carol A. Wise The University of Texas Southwestern Medical Center
Kevin P. Campbell
Kevin P. Campbell University of Iowa
Anne M. Bowcock
Anne M. Bowcock Icahn School of Medicine at Mount Sinai
Jacqueline T. Hecht
Jacqueline T. Hecht The University of Texas Health Science Center at Houston
Michel De Waard
Michel De Waard University of Nantes
Thijn R. Brummelkamp
Thijn R. Brummelkamp Antoni van Leeuwenhoek Hospital
Daniel A. Haber
Daniel A. Haber Harvard University
Alfred L. George
Alfred L. George Northwestern University
Len A. Pennacchio
Len A. Pennacchio Lawrence Berkeley National Laboratory
William B. Dobyns
William B. Dobyns University of Minnesota

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