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John J. Mulvihill, MD

John J Mulvihill, MD

Professor of Pediatrics

CHF Kimberly V. Talley Chair in Genetics



BS, Honors Biology, College of the Holy Cross, Worceter, Massachusetts, 1965
BMS, Dartmouth Medical School, Hanover, New Hampshire, 1967
MD, University of Washington School of Medicine, Seattle, Washington, 1969
Internship (Medicine-Pediatrics), University Hospital, Seattle, Washington, 1970
Research Associate, National Institutes of Health, Bethesda, Maryland, 1972
Residency in Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland, 1974


Board Certification(s):

American Board of Pediatrics (ABP)

  • Pediatrics

American Board of Medical Genetics and Genomics (ABMGG)

  • Clinical Genetics

Clinical/Research Interests:

Genetics of human and familial cancer, epidemiology of childhood neoplasms and birth defects, genetic epidemiology and mutation epidemiology, dysmorphology, medical ethics, mentoring

Select Honors & Accomplishments:

1989    First Friedrich von Recklinghausen Award of the National Neurofibromatosis Foundation
2017    Mentorship Award, American Society of Human Genetics
2019    National Insitutes of Health Director's Award

Select Publications:

  Mulvihill JJ: The joy and duty of a marginal teratologist.  Birth Defects Res 112:918-928, 2020. PMID 32459072

    Kenborg L, Duun-Henriksen AK, Dalton SO, Bidstrup PE, Doser K, Rugbjerg K, Pedersen C, Krøyer A, Johansen C, Andersen KK, Østergaard JR, Hove H, Sørensen SA, Riccardi VM, Mulvihill JJ, Winther JF:  Multisystem burden of neurofibromatosis 1 in Denmark: registry- and population-based rates of hospitalizations over the life span.  Genet Med. 22:1069-1078, 2020.  PMID 32107470

    Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA 3rd, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA, Undiagnosed Diseases Network:  Effect of genetic diagnosis on patients with previously undiagnosed disease.  N Engl J Med 379:2131-2139, 2018.  PMID 30304647