D-Index & Metrics Best Publications

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Medicine D-index 106 Citations 49,508 1,239 World Ranking 3773 National Ranking 2143

Research.com Recognitions

Awards & Achievements

2011 - William Allan Award, the American Society of Human Genetics

1995 - Fellow of the American Association for the Advancement of Science (AAAS)

Overview

What is he best known for?

The fields of study he is best known for:

  • Internal medicine
  • Mutation
  • Gene

John M. Opitz spends much of his time researching Genetics, Internal medicine, Pediatrics, Anatomy and Endocrinology. His is doing research in Phenotype, Gene, X chromosome, Genetic linkage and Locus, both of which are found in Genetics. His Internal medicine study incorporates themes from Gastroenterology and Prenatal diagnosis.

His Pediatrics research is multidisciplinary, incorporating elements of Genetic counseling, Incidence and Etiology. His studies deal with areas such as Dermatology, Fetus, Holoprosencephaly and Dysplasia as well as Anatomy. His Endocrinology study combines topics from a wide range of disciplines, such as Hypoplasia, Autosomal recessive trait, Pathology, Teratology and Smith–Lemli–Opitz syndrome.

His most cited work include:

  • Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions (1102 citations)
  • A newly recognized syndromeof multiple congenital anomalies (558 citations)
  • Resynthesizing evolutionary and developmental biology. (528 citations)

What are the main themes of his work throughout his whole career to date?

His primary scientific interests are in Genetics, Anatomy, Internal medicine, Endocrinology and Pediatrics. His research related to Chromosome, Phenotype, Chromosomal translocation, X chromosome and Gene might be considered part of Genetics. John M. Opitz studies Chromosome, namely Karyotype.

His Anatomy research is multidisciplinary, incorporating perspectives in Fetus and Dysplasia. John M. Opitz regularly ties together related areas like Prenatal diagnosis in his Internal medicine studies. His research brings together the fields of Pathology and Endocrinology.

He most often published in these fields:

  • Genetics (25.55%)
  • Anatomy (22.18%)
  • Internal medicine (18.54%)

What were the highlights of his more recent work (between 1995-2021)?

  • Genetics (25.55%)
  • Anatomy (22.18%)
  • Internal medicine (18.54%)

In recent papers he was focusing on the following fields of study:

John M. Opitz mostly deals with Genetics, Anatomy, Internal medicine, Endocrinology and Pediatrics. Mutation, Phenotype, X chromosome, Exon and Gene are the subjects of his Genetics studies. As a part of the same scientific study, he usually deals with the X chromosome, concentrating on Genetic linkage and frequently concerns with FG syndrome.

In Anatomy, John M. Opitz works on issues like Pathology, which are connected to Aneuploidy. John M. Opitz is involved in the study of Internal medicine that focuses on Hypoplasia in particular. His work on Pediatrics is being expanded to include thematically relevant topics such as Intellectual disability.

Between 1995 and 2021, his most popular works were:

  • Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions (1102 citations)
  • Resynthesizing evolutionary and developmental biology. (528 citations)
  • Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22 (315 citations)

In his most recent research, the most cited papers focused on:

  • Internal medicine
  • Mutation
  • Gene

John M. Opitz mainly investigates Genetics, Internal medicine, Endocrinology, Anatomy and Mutation. His work in Phenotype, X chromosome, Gene, Down syndrome and Epigenetics are all subfields of Genetics research. His study in Internal medicine is interdisciplinary in nature, drawing from both Consanguinity, Genetic heterogeneity, Allele and Hypertelorism.

John M. Opitz interconnects Smith–Lemli–Opitz syndrome, Hypoplasia, Pediatrics and FG syndrome in the investigation of issues within Endocrinology. His biological study spans a wide range of topics, including Trisomy, Inferior vena cava and Dysostosis. The Mutation study combines topics in areas such as Genetic disorder and Exon.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

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.
Cell (2015)

1647 Citations

A newly recognized syndromeof multiple congenital anomalies

David W. Smith;Luc Lemli;John M. Opitz.
The Journal of Pediatrics (1964)

902 Citations

Resynthesizing evolutionary and developmental biology.

Scott F. Gilbert;John M. Opitz;Rudolf A. Raff.
Developmental Biology (1996)

881 Citations

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.
American Journal of Medical Genetics (1989)

696 Citations

Noonan syndrome: a review.

H M Mendez;J M Opitz.
American Journal of Medical Genetics (1985)

525 Citations

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

Norio Niikawa;Yoshikazu Kuroki;Tadashi Kajii;Nobuo Matsuura.
American Journal of Medical Genetics (1988)

522 Citations

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

J. Spranger;K. Benirschke;J.G. Hall;W. Lenz.
The Journal of Pediatrics (1982)

506 Citations

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

Ann C. M. Smith;Loris McGavran;Jeannie Robinson;Gail Waldstein.
American Journal of Medical Genetics (1986)

488 Citations

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.
American Journal of Medical Genetics (1986)

478 Citations

Obesity: genetic, molecular, and environmental aspects.

Lewis A. Barness;John M. Opitz;Enid Gilbert-Barness.
American Journal of Medical Genetics Part A (2007)

475 Citations

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