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John C. Carey | Researchclopedia

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John C. Carey

University of Utah Health Care ORCID

697

Works

25,058

Citations

81

h-index

332

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Prenatal Screening and Diagnostics Genomics and Rare Diseases

Affiliations

Intermountain Healthcare1993–2021

Sprint (United States)1999–1999

West Virginia University1984–1984

Stevenson University2010–2010

University of Maryland, Baltimore2006–2006

Top Works

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

David Viskochil,Arthur M. Buchberg,et al.

19901,089 citations

Neurofibromatosis and Schwannoma Cases

Congenital heart defects research

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

Elena V. Semina,Rebecca S. Reiter,et al.

1996888 citations

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

Ian D. Krantz,Jennifer McCallum,et al.

2004717 citations

Gene for von Recklinghausen Neurofibromatosis Is in the Pericentromeric Region of Chromosome 17

David Barker,E Wright,et al.

1987695 citations

Evaluation of mental retardation: Recommendations of a consensus conference

Cynthia J. Curry,Roger E. Stevenson,et al.

1997402 citations

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

Bonnie Jeanne Baty,Brent L. Blackburn,et al.

1994346 citations

The trisomy 18 syndrome

Anna Cereda,John C. Carey

2012338 citations

Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced TH17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome

Ellen D. Renner,Stacey Rylaarsdam,et al.

2008337 citations

Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.

Mary C. Lowery,Colleen A. Morris,et al.

1995313 citations