World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
69
Citations
22807
World Ranking
2321
National Ranking
1047

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • DNA
  • Genetics

William J. Pavan mostly deals with Genetics, Melanocyte, Cell biology, SOX10 and Neural crest. His works in Gene, Transcription factor, Genome, Transcriptome and Melanoma are all subjects of inquiry into Genetics. In his research on the topic of Melanocyte, Transactivation, PAX3 and Melanoblast is strongly related with Microphthalmia-associated transcription factor.

His work deals with themes such as Neurocristopathy and Genetic variation, which intersect with SOX10. His Neural crest research focuses on subjects like Regulation of gene expression, which are linked to Dopachrome tautomerase, Signal transduction and Genetically modified mouse. His Genomics research is multidisciplinary, incorporating elements of Polyadenylation, Transcription and Transcriptional regulation.

His most cited work include:

  • The Transcriptional Landscape of the Mammalian Genome (2876 citations)
  • Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs (1378 citations)
  • Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis (1205 citations)

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

The scientist’s investigation covers issues in Genetics, Neural crest, SOX10, Molecular biology and Cell biology. His is involved in several facets of Genetics study, as is seen by his studies on Gene, Melanocyte, Regulation of gene expression, Allele and Mutation. In general Neural crest study, his work on Melanoblast often relates to the realm of Endothelin 3, thereby connecting several areas of interest.

He combines subjects such as Enhancer, Cancer research and Microphthalmia-associated transcription factor with his study of SOX10. His research in Molecular biology intersects with topics in Positional cloning, Gene expression, Transgene, Yeast artificial chromosome and Candidate gene. He interconnects Endocrinology, Internal medicine and Cellular differentiation in the investigation of issues within Cell biology.

He most often published in these fields:

  • Genetics (45.88%)
  • Neural crest (21.18%)
  • SOX10 (20.59%)

What were the highlights of his more recent work (between 2013-2021)?

  • Genetics (45.88%)
  • Disease (8.82%)
  • Immunology (11.18%)

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

William J. Pavan spends much of his time researching Genetics, Disease, Immunology, Melanoma and Melanocyte. The Genetics study combines topics in areas such as Genome-wide association study and Genetic association. His study on Melanoma also encompasses disciplines like

  • Linkage disequilibrium and SNP most often made with reference to Expression quantitative trait loci,
  • microRNA together with Cell cycle, Transcriptome and Computational biology.

His Melanocyte study combines topics in areas such as Phenotype and Neural crest. He has included themes like Chromatin, Regulation of gene expression, Transcription factor and Cell biology in his Epigenetics study. His Regulation of gene expression research integrates issues from Microphthalmia-associated transcription factor, Cellular differentiation and SOX10.

Between 2013 and 2021, his most popular works were:

  • Loci associated with skin pigmentation identified in African populations (159 citations)
  • Glial-cell-derived neuroregulators control type 3 innate lymphoid cells and gut defence (150 citations)
  • Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial (146 citations)

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

  • Gene
  • DNA
  • Genetics

His main research concerns Melanocyte, Genetics, Genome-wide association study, Gene and Cell biology. His Melanocyte research includes elements of TFAP2A, Zebrafish and Neural crest. His Genome-wide association study research is multidisciplinary, relying on both OCA2, SLC24A5, Genetic association, Dark skin and Human skin.

His Allele and Fixation study are his primary interests in Gene. His research investigates the connection between Cell biology and topics such as Cell type that intersect with issues in Catenin and Signal transduction. His studies in Cancer research integrate themes in fields like Microphthalmia-associated transcription factor and SOX10.

Best Publications

  • The Transcriptional Landscape of the Mammalian Genome

    P. Carninci;T. Kasukawa;S. Katayama;J. Gough

  • Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs

    Y. Okazaki;M. Furuno;T. Kasukawa;J. Adachi

  • Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.

    Eugene D. Carstea;Jill A. Morris;Katherine G. Coleman;Stacie K. Loftus

  • Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene.

    Stacie K. Loftus;Jill A. Morris;Eugene D. Carstea;Jessie Z. Gu

  • Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model.

    E M Southard-Smith;L Kos;W J Pavan

  • Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3.

    S. Brian Potterf;Minao Furumura;Karen J. Dunn;Heinz Arnheiter

  • cDNA Microarrays Detect Activation of a Myogenic Transcription Program by the PAX3-FKHR Fusion Oncogene

    Javed Khan;Michael L. Bittner;Lao H. Saal;Ulrike Teichmann

  • Melanocyte development in vivo and in neural crest cell cultures: crucial dependence on the Mitf basic-helix-loop-helix-zipper transcription factor.

    Karin Opdecamp;Atsuo Nakayama;Minh-Thanh T. Nguyen;Colin A. Hodgkinson

  • Melanoma mouse model implicates metabotropic glutamate signaling in melanocytic neoplasia

    Pamela M. Pollock;Karine Cohen-Solal;Raman Sood;Jin Namkoong

  • Glial-cell-derived neuroregulators control type 3 innate lymphoid cells and gut defence

    Sales Ibiza;Bethania García-Cassani;Hélder Ribeiro;Tânia Carvalho

  • Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial

    Daniel S Ory;Elizabeth A Ottinger;Nicole Yanjanin Farhat;Kelly A King

  • Loci associated with skin pigmentation identified in African populations

    Nicholas G. Crawford;Derek E. Kelly;Matthew E. B. Hansen;Marcia H. Beltrame

  • The melanomas: a synthesis of epidemiological, clinical, histopathological, genetic, and biological aspects, supporting distinct subtypes, causal pathways, and cells of origin.

    David C. Whiteman;William J. Pavan;Boris C. Bastian

  • The importance of having your SOX on: role of SOX10 † in the development of neural crest-derived melanocytes and glia

    Ramin Mollaaghababa;William J Pavan

  • Strategic vision for improving human health at The Forefront of Genomics.

    Eric D. Green;Chris Gunter;Leslie G. Biesecker;Valentina Di Francesco

  • Transcriptional and signaling regulation in neural crest stem cell-derived melanocyte development: do all roads lead to Mitf?

    Ling Hou;William J Pavan

  • A Polymorphism in IRF4 Affects Human Pigmentation through a Tyrosinase-Dependent MITF/TFAP2A Pathway

    Christian Praetorius;Christine Grill;Simon N. Stacey;Alexander M. Metcalf

  • Targeting a Complex Transcriptome: The Construction of the Mouse Full-Length cDNA Encyclopedia

    Piero Carninci;Kazunori Waki;Toshiyuki Shiraki;Hideaki Konno

  • Neural crest-directed gene transfer demonstrates Wnt1 role in melanocyte expansion and differentiation during mouse development.

    Karen J. Dunn;Bart O. Williams;Yi Li;William J. Pavan

  • Linear Clinical Progression, Independent of Age of Onset, in Niemann-Pick Disease, type C

    Nicole M. Yanjanin;Jorge I. Vélez;Andrea Gropman;Kelly King;Kelly King

Frequent Co-Authors

Forbes D. Porter
Forbes D. Porter National Institutes of Health
Roger H. Reeves
Roger H. Reeves Johns Hopkins University School of Medicine
Paul S. Meltzer
Paul S. Meltzer National Institutes of Health
Daniel S. Ory
Daniel S. Ory Washington University in St. Louis
Eric D. Green
Eric D. Green National Institutes of Health
Steven U. Walkley
Steven U. Walkley Albert Einstein College of Medicine
Heinz Arnheiter
Heinz Arnheiter National Institutes of Health
Philip Hieter
Philip Hieter University of British Columbia
Jeffrey M. Trent
Jeffrey M. Trent Translational Genomics Research Institute

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