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Medicine

D-Index
94
Citations
33266
World Ranking
10469
National Ranking
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Research.com Recognitions

  • 2000 - Fellow of the American Association for the Advancement of Science (AAAS)

Overview

John C. Carey is affiliated with the University of Utah in the United States. Their research mainly focuses on biochemistry, genetics, and molecular biology, with substantial contributions in medicine. The predominant areas of study encompass genetics, molecular biology, pediatrics, perinatology, child health, surgery, and cancer research.

The main topics addressed in Carey's work include:

  • Genomics and Rare Diseases
  • Prenatal Screening and Diagnostics
  • Genomic Variations and Chromosomal Abnormalities
  • Genetics and Neurodevelopmental Disorders
  • Congenital Diaphragmatic Hernia Studies
  • Cancer Genomics and Diagnostics
  • Congenital Heart Defects Research

Frequent publication venues for Carey's research are:

  • American Journal of Medical Genetics Part A
  • Genetics in Medicine
  • Genetics in Medicine Open
  • The American Journal of Human Genetics
  • Proceedings of the National Academy of Sciences

Among recent published papers, notable titles include:

  • "A dyadic approach to the delineation of diagnostic entities in clinical genomics" (2021, The American Journal of Human Genetics)
  • "De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation" (2020, The American Journal of Human Genetics)
  • "Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder" (2020, Brain)
  • "Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants" (2020, Genetics in Medicine)
  • "Exome Sequencing and Clinical Diagnosis" (2020, JAMA)

Carey collaborates frequently with several co-authors, including:

  • Lorenzo D. Botto
  • Ashley Andrews
  • Jim Bale
  • Anita E. Beck
  • Dustin Baldridge

Carey was awarded the title of Fellow of the American Association for the Advancement of Science (AAAS) in 2000.

Best Publications

  • Association between Bacterial Vaginosis and Preterm Delivery of a Low-Birth-Weight Infant

    S L Hillier;R P Nugent;D A Eschenbach;M A Krohn

  • The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.

    David H. Gutmann;Arthur Aylsworth;John C. Carey;Bruce Korf

  • Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

    David Viskochil;Arthur M. Buchberg;Gangfeng Xu;Richard M. Cawthon

  • Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

    E. V. Semina;R. Reiter;N. J. Leysens;W. L. M. Alward

  • Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17

    D. Barker;E. Wright;K. Nguyen;L. Cannon

  • Cornelia de Lange syndrome is caused by mutations in NIPBL , the human homolog of Drosophila melanogaster Nipped-B

    Ian D. Krantz;Jennifer McCallum;Cheryl DeScipio;Maninder Kaur

  • Evaluation of mental retardation: Recommendations of a consensus conference

    Cynthia J. Curry;Roger E. Stevenson;David Aughton;Janice Byrne

  • Failure of Metronidazole to Prevent Preterm Delivery among Pregnant Women with Asymptomatic Trichomonas vaginalis Infection

    M. A. Klebanoff;J. C. Carey;J. C. Hauth;S. L. Hillier

  • Xq28-linked noncompaction of the left ventricular myocardium : prenatal diagnosis and pathologic analysis of affected individuals

    Steven B. Bleyl;Brian R. Mumford;Mary Carole Brown-Harrison;Luciana T. Pagotto

  • Strong Correlation of Elastin Deletions, Detected by FISH, With Williams Syndrome: Evaluation of 235 Patients

    M. C. Lowery;C. A. Morris;A. Ewart;L. J. Brothman

  • The trisomy 18 syndrome

    Anna Cereda;John C Carey

  • Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome

    Steven B. Bleyl;Brian R. Mumford;Victor Thompson;John C. Carey

  • Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome.

    Ellen D. Renner;Ellen D. Renner;Stacey Rylaarsdam;Stephanie Aňover-Sombke;Anita L. Rack

  • Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk

    Bonnie J. Baty;Brent L. Blackburn;John C. Carey

  • Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality.

    C. J R Curry;J. C. Carey;J. S. Holland;D. Chopra

  • Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation

    Agatino Battaglia;H. Eugene Hoyme;Bruno Dallapiccola;Elaine Zackai

  • New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement―The CFC syndrome

    James F. Reynolds;Giovanni Neri;Jurgen P. Herrmann;Bruce Blumberg

  • Precise localization of NF1 to 17q11.2 by balanced translocation.

    D H Ledbetter;D C Rich;P O'Connell;M Leppert

  • Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

    Alan F. Rope;Kai Wang;Rune Evjenth;Jinchuan Xing

  • Metronidazole to prevent preterm delivery in pregnant women with asymptomatic bacterial vaginosis

    J.C. Carey;M.A. Klebanoff;J.C. Hauth

Frequent Co-Authors

David H. Viskochil
David H. Viskochil University of Utah
Michael J. Bamshad
Michael J. Bamshad University of Washington
Lynn B. Jorde
Lynn B. Jorde University of Utah
John M. Opitz
John M. Opitz University of Utah
Arthur R. Brothman
Arthur R. Brothman University of Utah
Elaine H. Zackai
Elaine H. Zackai Children's Hospital of Philadelphia
John F. Bohnsack
John F. Bohnsack University of Utah
Brendan Lee
Brendan Lee Baylor College of Medicine
Deborah Krakow
Deborah Krakow University of California, Los Angeles
Leslie G. Biesecker
Leslie G. Biesecker National Institutes of Health

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