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Heather Etchevers

  • Ph. D.
  • Staff scientist (CR1)
  • National Institute of Health and Medical Research
  • 21

    h-index

    Impact measure calculated by Scopus using these publications and citation counts.
  • 2413

    Citations

    Number of citations received by these publications in Scopus.

Other IDs

Scopus

Research interests

congenital malformations genetics epigenetics stem cells

About

For the general public: I can be reached by putting in (my names) first.last@inserm.fr

Co-authors (370)

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Editorships

Birth Defects Research Part A: Clinical and Molecular Teratology

Associate Editor

2016 - Present

PeerJ

Academic Editor

2015 - Present

Publications

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

  • Chassaing N
  • Davis E
  • McKnight K
  • Niederriter A
  • Causse A
  • David V
  • Desmaison A
  • Lamarre S
  • Vincent-Delorme C
  • Pasquier L
  • Coubes C
  • Lacombe D
  • Rossi M
  • Dufier J
  • Dollfus H
  • Kaplan J
  • Katsanis N
  • Etchevers H
  • Faguer S
  • Calvas P
Genome Research (2016)
  • --

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A subpopulation of smooth muscle cells, derived from melanocyte-competent precursors, prevents patent ductus arteriosus.

  • Yajima I
  • Colombo S
  • Puig I
  • Champeval D
  • Kumasaka M
  • Belloir E
  • Bonaventure J
  • Mark M
  • Yamamoto H
  • Taketo M
  • Choquet P
  • Etchevers H
  • Beermann F
  • Delmas V
  • Monassier L
  • Larue L
PloS One (2013)
  • --

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Au coeur des actions sociales

  • Etchevers H
  • Bret T
Kiwanis Magazine (2013)
  • --

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Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.

  • Chassaing N
  • Golzio C
  • Odent S
  • Lequeux L
  • Vigouroux A
  • Martinovic-Bouriel J
  • Tiziano F
  • Masini L
  • Piro F
  • Maragliano G
  • Delezoide A
  • Attié-Bitach T
  • Manouvrier-Hanu S
  • Etchevers H
  • Calvas P
Human Mutation (2009)
  • --

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Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.

  • Golzio C
  • Martinovic-Bouriel J
  • Thomas S
  • Mougou-Zrelli S
  • Grattagliano-Bessieres B
  • Bonniere M
  • Delahaye S
  • Munnich A
  • Encha-Razavi F
  • Lyonnet S
  • Vekemans M
  • Attie-Bitach T
  • Etchevers H
American Journal of Human Genetics (2007)
  • --

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Professional experience

Staff scientist (CR1)

National Institute of Health and Medical Research

May 2003 - Present

Postdoc

INSERM U393, Hôpital Necker Enfants Malades

September 2001 - March 2003 (2 years)

Postdoc

Institut d‟Embryologie - CNRS UMR 7218

June 1999 - September 2001 (2 years)

Education history

Université Aix-Marseille II

Habilitation à Diriger les Recherches

September 2011 - February 2012 (5 months)

Université de Paris 06 - Université Pierre et Marie Curie

Ph. D.

September 1994 - June 1999 (5 years)

University of California Berkeley

Ph. D.

September 1992 - December 1998 (6 years)

Wellesley College

B.A.

September 1988 - June 1992 (4 years)