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D-Index & Metrics

Genetics

D-Index
57
Citations
13173
World Ranking
3398
National Ranking
1468

Overview

Erich Roessler is affiliated with the National Institutes of Health in the United States and has made contributions primarily in the field of Biochemistry, Genetics, and Molecular Biology. Their research emphasizes molecular biology, genetics, and pediatric health with a significant focus on the Hedgehog signaling pathway.

The scientist's work spans several main topics including
Hedgehog signaling pathway studies, epigenetics and DNA methylation, genomic variations and chromosomal abnormalities, ocular disorders and treatments, genetic and rare skin diseases, cleft lip and palate research, and fetal and pediatric neurological disorders.

  • Hedgehog Signaling Pathway Studies
  • Epigenetics and DNA Methylation
  • Genomic variations and chromosomal abnormalities
  • Ocular Disorders and Treatments
  • Genetic and rare skin diseases.
  • Cleft Lip and Palate Research
  • Fetal and Pediatric Neurological Disorders

Roessler has published work in several venues, predominantly in Human Mutation with four publications, as well as in Authorea with one publication. This reflects ongoing engagement with journals focused on human genetics and mutation research.

  • Human Mutation
  • Authorea

The following papers are among their recent contributions:

  • Functional analysis of Sonic Hedgehog variants associated with holoprosencephaly in humans using a CRISPR/Cas9 zebrafish model, 2020, Human Mutation
  • Rare hypomorphic human variation in the heptahelical domain of SMO contributes to holoprosencephaly phenotypes, 2020, Human Mutation
  • Rare hypomorphic human variation in the heptahelical domain of SMOOTHENED contributes to holoprosencephaly phenotypes, 2020, Authorea
  • Cover, Volume 41, Issue 12, 2020, Human Mutation
  • Issue Information, 2020, Human Mutation

Frequent collaborators in their research include Sung-Kook Hong, Ping Hu, Blake Carrington, Raman Sood, and Maximilian Muenke, each having coauthored five publications with Roessler.

  • Sung-Kook Hong
  • Ping Hu
  • Blake Carrington
  • Raman Sood
  • Maximilian Muenke

Best Publications

  • Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.

    Erich Roessler;Elena Belloni;Karin Gaudenz;Philippe Jay

  • Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

    E. Belloni;M. Muenke;E. Roessler;G. Traverso

  • A lymphokine, provisionally designated interleukin T and produced by a human adult T-cell leukemia line, stimulates T-cell proliferation and the induction of lymphokine-activated killer cells.

    Jack D. Burton;Richard N. Bamford;Christian Peters;Angus J. Grant

  • The interleukin (IL) 2 receptor beta chain is shared by IL-2 and a cytokine, provisionally designated IL-T, that stimulates T-cell proliferation and the induction of lymphokine-activated killer cells.

    R N Bamford;A J Grant;J D Burton;C Peters

  • The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly

    Luisa Nanni;Jeffrey E. Ming;Maureen Bocian;Kathryn Steinhaus

  • Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.

    Deeann E. Wallis;Erich Roessler;Erich Roessler;Ute Hehr;Luisa Nanni

  • Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features

    Erich Roessler;Yang-Zhu Du;Jose L. Mullor;Esther Casas

  • Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

    Karen W. Gripp;David Wotton;Michael C. Edwards;Michael C. Edwards;Erich Roessler

  • Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.

    Richard N. Bamford;Erich Roessler;Rebecca D. Burdine;Umay Şaplakoğlu

  • Radioimmunotherapy of interleukin-2R alpha-expressing adult T-cell leukemia with Yttrium-90-labeled anti-Tac.

    T A Waldmann;J D White;J A Carrasquillo;J C Reynolds

  • A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication

    Arcos-Burgos M;Jain M;Acosta Mt;Shively S

  • A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers.

    Yongsu Jeong;Kenia El-Jaick;Erich Roessler;Maximilian Muenke

  • The molecular genetics of holoprosencephaly

    Erich Roessler;Maximilian Muenke

  • Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.

    Jeffrey E. Ming;Michelle E. Kaupas;Erich Roessler;Han G. Brunner

  • Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?

    Richard I. Kelley;Erich Roessler;Raoul C. M. Hennekam;Gerald L. Feldman

  • The interleukin-2 receptor: a target for monoclonal antibody treatment of human T-cell lymphotrophic virus I-induced adult T-cell leukemia

    TA Waldmann;JD White;CK Goldman;L Top

  • CFC1 Mutations in Patients with Transposition of the Great Arteries and Double-Outlet Right Ventricle

    Elizabeth Goldmuntz;Richard Bamford;Jayaprakash D. Karkera;June dela Cruz

  • A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2

    Erich Roessler;Alexandre N. Ermilov;Dorothy Katherine Grange;Aiqin Wang

  • Holoprosencephaly: a paradigm for the complex genetics of brain development.

    E. Roessler;M. Muenke;M. Muenke

  • Human developmental disorders and the Sonic hedgehog pathway.

    Jeffrey E Ming;Erich Roessler;Maximilian Muenke;Maximilian Muenke

Frequent Co-Authors

Maximilian Muenke
Maximilian Muenke American College of Medical Genetics
Christèle Dubourg
Christèle Dubourg University of Rennes
Sherri J. Bale
Sherri J. Bale OPKO Health (United States)
Mauricio R. Delgado
Mauricio R. Delgado The University of Texas Southwestern Medical Center
Véronique David
Véronique David Université de Rennes
Sylvie Odent
Sylvie Odent University of Rennes
Thomas A. Waldmann
Thomas A. Waldmann National Institutes of Health
Carolyn K. Goldman
Carolyn K. Goldman National Institutes of Health
Mauricio Arcos-Burgos
Mauricio Arcos-Burgos University of Antioquia
jeffrey a towbin
jeffrey a towbin St. Jude Children's Research Hospital

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