World's Best Scientists 2026 revealed!

D-Index & Metrics

Medicine

D-Index
125
Citations
76125
World Ranking
3031
National Ranking
1671

Research.com Recognitions

  • 2011 - William Allan Award, the American Society of Human Genetics
  • 1995 - Fellow of the American Association for the Advancement of Science (AAAS)

Overview

John M. Opitz is affiliated with the University of Utah in the United States and has contributed to multiple fields including Biochemistry, Genetics and Molecular Biology, as well as Social Sciences. Their research spans significant subfields such as Genetics, Gender Studies, Sociology and Political Science, and Developmental Biology.

Their published work covers a range of topics including:

  • Gender Roles and Identity Studies
  • Historical Gender and Feminism Studies
  • Craniofacial Disorders and Treatments
  • Congenital limb and hand anomalies
  • Cleft Lip and Palate Research
  • BRCA gene mutations in cancer

John M. Opitz's recent academic papers include the following:

  • Living history biography: An afterthought (2021), published in American Journal of Medical Genetics Part A
  • Evolution in the clinic: Maladaptive units and "minor anomalies" (2022), published in American Journal of Medical Genetics Part A
  • Personal journeys to and in human genetics and dysmorphology (2024), published in American Journal of Medical Genetics Part A

The primary publication venue for their work is the American Journal of Medical Genetics Part A, with three papers featured there.

Frequent co-authors collaborating with John M. Opitz include:

  • John C. Carey
  • Charles E. Schwartz
  • Arthur S. Aylsworth
  • Judith Allanson
  • Agatino Battaglia

Throughout their career, John M. Opitz has received notable recognitions such as the William Allan Award from the American Society of Human Genetics in 2011 and was named a Fellow of the American Association for the Advancement of Science (AAAS) in 1995.

Best Publications

  • Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

    Darío G. Lupiáñez;Darío G. Lupiáñez;Katerina Kraft;Katerina Kraft;Verena Heinrich;Peter Krawitz;Peter Krawitz

  • International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986.

    P. Beighton;A. de Paepe;D. Danks;G. Finidori

  • A newly recognized syndromeof multiple congenital anomalies

    David W. Smith;Luc Lemli;John M. Opitz

  • Resynthesizing evolutionary and developmental biology.

    Scott F. Gilbert;John M. Opitz;Rudolf A. Raff

  • Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.

    J. H. M. Knoll;J. H. M. Knoll;R. D. Nicholls;R. D. Nicholls;R. E. Magenis;J. M. Graham

  • Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

    Norio Niikawa;Yoshikazu Kuroki;Tadashi Kajii;Nobuo Matsuura

  • Noonan syndrome: a review.

    H M Mendez;J M Opitz

  • Errors of morphogenesis: concepts and terms. Recommendations of an international working group.

    J. Spranger;K. Benirschke;J.G. Hall;W. Lenz

  • Interstitial deletion of (17)(p11.2p11.2) in nine patients

    Ann C. M. Smith;Loris McGavran;Jeannie Robinson;Gail Waldstein

  • Rett Syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence

    Bengt Hagberg;Ingegerd Witt-Engerström;John M. Opitz;James F. Reynolds

  • Obesity: genetic, molecular, and environmental aspects.

    Lewis A. Barness;John M. Opitz;Enid Gilbert-Barness

  • Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

    Nandita A. Quaderi;Susann Schweiger;Karin Gaudenz;Brunella Franco

  • The campomelic syndrome: Review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971

    C S Houston;J M Opitz;J W Spranger;R I Macpherson

  • Juvenile myoclonic epilepsy (JME) may be linked to the BF and HLA loci on human chromosome 6.

    David A. Greenberg;David A. Greenberg;Antonio V. Delgado-Escueta;Antonio V. Delgado-Escueta;Heidi Widelitz;Robert S. Sparkes

  • CNS anomalies and the midline as a “developmental field”

    John M. Opitz;John M. Opitz;Enid F. Gilbert

  • Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

    Sarah B. Pierce;Karen M. Chisholm;Eric D. Lynch;Ming K. Lee

  • The cardiofaciocutaneous syndrome

    Amy Roberts;Judith Allanson;Suzanne K Jadico;Maria Ines Kavamura

  • An analysis of autism in fifty males with the fragile X syndrome.

    Randi J. Hagerman;Alfred W. Jackson;Andrew Levitas;Bernard Rimland

  • 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

  • Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome

    Sarah B. Pierce;Tom Walsh;Karen M. Chisholm;Ming K. Lee

Frequent Co-Authors

James F. Reynolds
James F. Reynolds Monash University
Judith G. Hall
Judith G. Hall University of British Columbia
Giovanni Neri
Giovanni Neri Catholic University of the Sacred Heart
John C. Carey
John C. Carey University of Utah
Raoul C.M. Hennekam
Raoul C.M. Hennekam University of Amsterdam
David H. Ledbetter
David H. Ledbetter University of Florida
Thomas B. Shows
Thomas B. Shows Roswell Park Cancer Institute
Uta Francke
Uta Francke Stanford University
Kenneth L. Jones
Kenneth L. Jones University of California, San Diego
Newton E. Morton
Newton E. Morton University of Southampton

If you think any of the details on this page are incorrect, let us know.

Report an issue

We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below:

Related Online Degrees & Career Pathways

The journey to a career in medicine or healthcare doesn’t always follow a single path. Many students are now choosing online programs to gain flexibility and balance work, school, and personal commitments. There are a variety of highly respected online degrees that can open doors to rewarding healthcare roles.

For registered nurses looking to advance their careers, rn to np bridge programs offer a streamlined way to move from an associate degree in nursing to becoming a nurse practitioner. Those who want to build foundational expertise in healthcare management should explore top cahme-accredited mha programs, which are recognized for their quality and can lead to leadership roles in hospitals and healthcare systems.

If your interest lies in preventive care and wellness, consider an online degree nutrition program to qualify for positions in dietetics, public health, or research. Additionally, licensed RNs striving for academic advancement may prefer rn bsn online programs no clinicals that enable students to earn a bachelor’s degree without the need for additional clinical hours.

These online pathways provide flexibility, wider access, and opportunities for specialization—helping you build a career in medicine or allied health fields from wherever you are.

Best Scientists Citing John M. Opitz

Trending Scientists

Recently Published Articles