Heather Etchevers

54
Documents
Affiliations actuelles
  • Marseille medical genetics - Centre de génétique médicale de Marseille (MMG)
  • Institut Marseille Maladies Rares (MarMaRa)

Publications

Publications

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A short report on melanocyte/melanoma culture, senescence, and reproducibility

Lionel Larue , Duarte C Barral , Veronique Delmas , Sara Egea-Rodriguez , Daniel Aldea et al.

Pigment Cell and Melanoma Research, In press

Article dans une revue hal-05533385v1

Deconvoluted Methylation Profiles Discriminate between Closely Related Melanocytic Nevi

Daniel Aldea , Nicolas Macagno , Elise Marechal , Mathias Moreno , Pauline Romanet et al.

Journal of Investigative Dermatology, 2025, 145 (5), pp.1222-1226.e4. ⟨10.1016/j.jid.2024.10.595⟩

Article dans une revue hal-05458318v1
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The people behind the papers-Christopher De Bono, Stephane Zaffran and Heather Etchevers

Christopher de Bono , Stephane Zaffran , Heather Etchevers

Development, 2025, 152 (5), ⟨10.1242/dev.204734⟩

Article dans une revue hal-05264563v1
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Multi-modal refinement of the human heart atlas during the first gestational trimester

Christopher de Bono , Yichi Xu , Samina Kausar , Marine Herbane , Camille Humbert et al.

Development (Cambridge, England), 2025, 152 (5), pp.dev.204555. ⟨10.1242/dev.204555⟩

Article dans une revue hal-04980602v1
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Modeling corticotroph deficiency with pituitary organoids supports the functional role of NFKB2 in human pituitary differentiation

Thi Thom Mac , Teddy Fauquier , Nicolas Jullien , Pauline Romanet , Heather Etchevers et al.

eLife, 2024, 12, ⟨10.7554/eLife.90875.3⟩

Article dans une revue hal-04911514v1
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An epigenetic switch controls an alternative NR2F2 isoform 2 that unleashes a metastatic program in melanoma

Verónica Davalos , Claudia Lovell , Richard von Itter , Igor Dolgalev , Praveen Agrawal et al.

Nature Communications, In press, 14 (1), pp.1867. ⟨10.1038/s41467-023-36967-2⟩

Article dans une revue hal-04007075v1
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Sustained experimental activation of FGF8/ERK in the developing chicken spinal cord models early events in ERK-mediated tumorigenesis

Axelle Wilmerding , Lauranne Bouteille , Nathalie Caruso , Ghislain Bidaut , Heather C Etchevers et al.

Neoplasia, 2022, 24 (2), pp.120 - 132. ⟨10.1016/j.neo.2021.12.006⟩

Article dans une revue hal-03863327v1
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Somatotroph Tumors and the Epigenetic Status of the GNAS Locus

Pauline Romanet , Justine Galluso , Peter Kamenicky , Mirella Hage , Marily Theodoropoulou et al.

International Journal of Molecular Sciences, 2021, 22 (14), pp.7570. ⟨10.3390/ijms22147570⟩

Article dans une revue hal-03288514v1
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Cutaneous Melanomas Arising during Childhood: An Overview of the Main Entities

Arnaud de La Fouchardière , Felix Boivin , Heather Etchevers , Nicolas Macagno

Dermatopathology, 2021, 8 (3), pp.301-314. ⟨10.3390/dermatopathology8030036⟩

Article dans une revue hal-03312882v1
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A roadmap for the Human Developmental Cell Atlas

Muzlifah Haniffa , Deanne Taylor , Sten Linnarsson , Bruce Aronow , Gary Bader et al.

Nature, 2021, 597 (7875), pp.196-205. ⟨10.1038/s41586-021-03620-1⟩

Article dans une revue hal-03365045v1

Domains and outcomes of the core outcome set of congenital melanocytic naevi for clinical practice and research (the OCOMEN project): part 2*

A.C. Fledderus , S.G.M.A. Pasmans , A. Wolkerstorfer , W. Oei , H.C. Etchevers et al.

British Journal of Dermatology, 2021, 185 (5), pp.970-977. ⟨10.1111/bjd.20437⟩

Article dans une revue hal-03662367v1
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Outflow Tract Formation—Embryonic Origins of Conotruncal Congenital Heart Disease

Sonia Stefanovic , Heather Etchevers , Stéphane Zaffran

Journal of Cardiovascular Development and Disease, 2021, 8 (4), pp.42. ⟨10.3390/jcdd8040042⟩

Article dans une revue hal-03663016v1

Cutaneous Melanocytic Tumors With Concomitant NRAS Q61R and IDH1 R132C Mutations

Nicolas Macagno , Daniel Pissaloux , Heather Etchevers , Heather Etchevers , Véronique Haddad et al.

American Journal of Surgical Pathology, 2020, 44 (10), pp.1398-1405. ⟨10.1097/PAS.0000000000001500⟩

Article dans une revue hal-03882539v1
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Melanocortin‐1 receptor ( MC1R ) genotypes do not correlate with size in two cohorts of medium‐to‐giant congenital melanocytic nevi

Neus Calbet-Llopart , Mirella Pascini-Garrigos , Gemma Tell-Martí , Miriam Potrony , Vanessa Martins da Silva et al.

Pigment Cell & melanoma research, 2020, 33 (5), pp.685-694. ⟨10.1111/pcmr.12883⟩

Article dans une revue hal-03609329v1
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Cutaneous melanocytic tumors with concomitant NRAS Q61R and IDH1 R132C mutations: a report of six cases

Nicolas Macagno , Daniel Pissaloux , Heather Etchevers , Véronique Haddad , Béatrice Vergier et al.

American Journal of Surgical Pathology, 2020

Article dans une revue hal-02540120v1
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Development of an international core domain set for medium, large and giant congenital melanocytic naevi as a first step towards a core outcome set for clinical practice and research

W Oei , a C Fledderus , P I Spuls , C a M Eggen , J Kottner et al.

British Journal of Dermatology, 2020, ⟨10.1111/bjd.19694⟩

Article dans une revue hal-03156673v1
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The hedgehog pathway and ocular developmental anomalies

Florencia Cavodeassi , Sophie Creuzet , Heather Etchevers

Human Genetics, 2019, 138 (8-9), pp.917-936. ⟨10.1007/s00439-018-1918-8⟩

Article dans une revue hal-01853948v1

Macrophage-Derived IL1 beta and TNF alpha Regulate Arginine Metabolism in Neuroblastoma

Livingstone Fultang , Laura D. Gamble , Luciana Gneo , Andrea M. Berry , Sharon A. Egan et al.

Cancer Research, 2019, 79 (3), pp.611-624. ⟨10.1158/0008-5472.CAN-18-2139⟩

Article dans une revue hal-02462178v1

The diverse neural crest: from embryology to human pathology

Heather Etchevers , Elisabeth Dupin , Nicole M. Le Douarin

Development, 2019, 146 (5), ⟨10.1242/dev.169821⟩

Article dans une revue hal-02478901v1
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A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation

Hager Jaouadi , Amel Ben Chehida , Lilia Kraoua , Heather Etchevers , Laurent Argiro et al.

Genetics Research, 2019, 101, pp.e6. ⟨10.1017/S0016672319000041⟩

Article dans une revue hal-02461305v1
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Epigenetic deregulation of GATA3 in neuroblastoma is associated with increased GATA3 protein expression and with poor outcomes

Bader Almutairi , Jessica Charlet , Anthony R Dallosso , Marianna Szemes , Heather Etchevers et al.

Scientific Reports, 2019, 9, pp.18934. ⟨10.1038/s41598-019-55382-6⟩

Article dans une revue hal-02407665v1
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Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development

Anna C. Thomas , Pauline Heux , Chloe Santos , Wisenave Arulvasan , Nita Solanky et al.

Birth Defects Research, 2018, 110 (5), pp.443-455. ⟨10.1002/bdr2.1183⟩

Article dans une revue hal-01847993v1
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Macrophage IL-1B and TNF-a create an immune-metabolic loop regulating Arginase2 in neuroblastoma

Livingstone Fultang , Laura D Gamble , Luciana Gneo , Andrea M Berry , Sharon A Egan et al.

Cancer Research, In press

Article dans une revue hal-01920354v1
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Ectopic expression of Hoxb1 induces cardiac and craniofacial malformations

Stéphane Zaffran , Gaelle Odelin , Sonia Stefanovic , Fabienne Lescroart , Heather Etchevers

Genesis - The Journal of Genetics and Development, 2018, 6-7, pp.e23221. ⟨10.1101/300368⟩

Article dans une revue hal-01851980v1
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The diverse neural crest: from embryology to human pathology

Heather Etchevers , Elisabeth Dupin , Nicole Le Douarin

Development (Cambridge, England), In press

Article dans une revue hal-01851974v2
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Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF

Heather C. Etchevers , Christian Rose , Birgit Kahle , Helmuth Vorbringer , Frederic Fina et al.

Pigment Cell and Melanoma Research, In press, ⟨10.1111/pcmr.12685⟩

Article dans une revue hal-01613153v2

Reduced H3K27me3 Expression is Common in Nodular Melanomas of Childhood Associated With Congenital Melanocytic Nevi But Not in Proliferative Nodules Reply

Nicolas Macagno , Heather C. Etchevers , Nausicaa Malissen , Angelique Rome , Sylvie Hesse et al.

American Journal of Surgical Pathology, 2018, 42 (5), pp.701-704

Article dans une revue hal-02000327v1
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Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries

Valentina Boeva , Caroline Louis-Brennetot , Agathe Peltier , Simon Durand , Cecile Pierre-Eugene et al.

Nature Genetics, 2017, 49 (9), pp.1408-1413. ⟨10.1038/ng.3921⟩

Article dans une revue hal-01741718v1

Cardiac outflow morphogenesis depends on effects of retinoic acid signaling on multiple cell lineages

Nicolas El Robrini , Heather C. Etchevers , Lucile Ryckebüsch , Emilie Faure , Nathalie Eudes et al.

Developmental Dynamics, 2016, 245 (3), pp.388-401. ⟨10.1002/dvdy.24357⟩

Article dans une revue hal-01469053v1
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Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

Nicolas Chassaing , Erica E. Davis , Kelly L. Mcknight , Adrienne R. Niederriter , Alexandre Causse et al.

Genome Research, 2016, 26 (4), pp.474-485. ⟨10.1101/gr.196048.115⟩

Article dans une revue hal-01282340v1
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A Subpopulation of Smooth Muscle Cells, Derived from Melanocyte-Competent Precursors, Prevents Patent Ductus Arteriosus

Ichiro Yajima , Sophie Colombo , Isabel Puig , Delphine Champeval , Mayuko Kumasaka et al.

PLoS ONE, 2013, 8 (1), pp.e53183. ⟨10.1371/journal.pone.0053183⟩

Article dans une revue hal-04985637v1
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ISL1 directly regulates FGF10 transcription during human cardiac outflow formation.

Christelle Golzio , Emmanuelle Havis , Philippe Daubas , Gregory Nuel , Candice Babarit et al.

PLoS ONE, 2012, 7 (1), pp.e30677. ⟨10.1371/journal.pone.0030677⟩

Article dans une revue hal-00686361v1
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Dissection of the MYCN locus in Feingold Syndrome and isolated esophageal atresia

Loic de Pontual , Marie Cognet , Agnès Nougayrede , Valérie Malan , Patrick Callier et al.

European Journal of Human Genetics, 2011, ⟨10.1038/ejhg.2010.225⟩

Article dans une revue hal-00608020v1
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GERMLINE GAIN-OF-FUNCTION MUTATIONS of ALK DISRUPT CENTRAL NERVOUS SYSTEM DEVELOPMENT

Loic de Pontual , Dania Kettaneh , Chris Gordon , Myriam Oufadem , Nathalie Boddaert et al.

Human Mutation, 2011, 32 (3), pp.272. ⟨10.1002/humu.21442⟩

Article dans une revue hal-00616287v1
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High-throughput Sequencing of a 4.1 Mb Linkage Interval Reveals <i>FLVCR2</i> Deletions and Mutations in Lethal Cerebral Vasculopathy

Sophie Thomas , Ferechte Encha-Razavi , Louise Devisme , Heather C Etchevers , Bettina Bessieres-Grattagliano et al.

Human Mutation, 2010, 31 (10), pp.1134. ⟨10.1002/humu.21329⟩

Article dans une revue hal-00574003v1
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Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.

Loïc de Pontual , Norann A Zaghloul , Sophie Thomas , Erica E Davis , David M Mcgaughey et al.

Proceedings of the National Academy of Sciences of the United States of America, 2009, 106 (33), pp.13921-6. ⟨10.1073/pnas.0901219106⟩

Article dans une revue pasteur-00604838v1

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

Nicolas Chassaing , Christelle Golzio , Sylvie Odent , Léopoldine Lequeux , Adeline Vigouroux et al.

Human Mutation, 2009, 30 (5), pp.E673-81. ⟨10.1002/humu.21023⟩

Article dans une revue inserm-00372285v1
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Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations

Sarah Boissel , Orit Reish , Karine Proulx , Hiroko Kawagoe-Takaki , Barbara Sedgwick et al.

American Journal of Human Genetics, 2009, 85 (1), pp.106-111. ⟨10.1016/j.ajhg.2009.06.002⟩

Article dans une revue hal-02044723v1

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.

S. Benko , Fantes Ja , J. Amiel , Kleinjan Dj , S. Thomas et al.

Nature Genetics, 2009, 41(3), pp.359-364

Article dans une revue hal-00406268v1

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

Loic de Pontual , Yves Mathieu , Christelle Golzio , Marlène Rio , Valérie Malan et al.

Human Mutation, 2009, 30 (4), pp.669-676. ⟨10.1002/humu.20935⟩

Article dans une revue istex hal-02134020v1
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Confirmation of RAX gene involvement in human anophthalmia.

L. Lequeux , Marlène Rio , Armelle Vigouroux , Matthias Titeux , Heather C. Etchevers et al.

Clinical Genetics, 2008, 74 (4), pp.392-395. ⟨10.1111/j.1399-0004.2008.01078.x⟩

Article dans une revue inserm-00322979v1
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Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma.

Loïc de Pontual , Delphine Trochet , Franck Bourdeaut , Sophie Thomas , Heather C. Etchevers et al.

European Journal of Cancer, 2007, 43 (16), pp.2366-72. ⟨10.1016/j.ejca.2007.07.016⟩

Article dans une revue inserm-00323027v1
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Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.

Christelle Golzio , Jelena Martinovic-Bouriel , Sophie Thomas , Soumaya Mougou-Zrelli , Bettina Grattagliano-Bessieres et al.

American Journal of Human Genetics, 2007, 80 (6), pp.1179-87. ⟨10.1086/518177⟩

Article dans une revue hal-00172593v1
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Embryologie de l'oeil

Sophie Creuzet , Heather Etchevers

Denis, Danièle; Qui Buoc, Emmanuel; Aziz Alessi, Aurore. Ophtalmologie pédiatrique : Rapport SFO 2017, Elsevier-Masson, pp.739-756, 2017, 978-2-294-75022-9. ⟨10.6084/m9.figshare.4983362.v1⟩

Chapitre d'ouvrage hal-01586398v2
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Oncogenic MAPK pathway activation induces a congenital and progressively lethal rare neuropathy in mice

Elise Marechal , Daniel Aldea , Patrice Quintana , Grégoire Mondielli , Nathalie Bernard- Marissal et al.

2026

Pré-publication, Document de travail hal-05461289v1
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RIPOR2 promotes multinucleation of melanoma cells downstream of the RAS/ERK oncogenic pathway

Axelle Wilmerding , Aurélie Richard , Nicolas Macagno , Estelle Hirsinger , Tarek Gharsalli et al.

2025

Pré-publication, Document de travail hal-05393365v1
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Multi-modal refinement of the human heart atlas during the first gestational trimester

Christopher de Bono , Yichi Xu , Samina Kausar , Marine Herbane , Camille Humbert et al.

2025

Pré-publication, Document de travail hal-04800957v1
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Multiple congenital malformations arise from somatic mosaicism for constitutively active Pik3ca signalling

Elise Marechal , Anne Poliard , Kilian Henry , Mathias Moreno , Mathilde Legrix et al.

2023

Pré-publication, Document de travail hal-03809038v1
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Melanocortin-1 receptor (MC1R) genotypes do not correlate with size in two cohorts of medium-to-giant congenital melanocytic nevi Institutional affiliations

Neus Calbet-Llopart , Mirella Pascini-Garrigos , Gemma Tell-Martí , Miriam Potrony , Vanessa Martins da Silva et al.

2020

Pré-publication, Document de travail hal-02540105v1
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Pericyte ontogeny: the use of chimeras to track a cell lineage of diverse germ line origins

Heather C. Etchevers

2017

Pré-publication, Document de travail hal-01586419v1
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Qualification thesis to directing research at the University of the Mediterranean Aix-Marseille II

Heather C. Etchevers

Development Biology. Aix-Marseille Université (AMU), 2012

HDR tel-01469161v1
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University habilitation to direct research

Heather Etchevers

Embryology and Organogenesis. Université de la Méditerranée - Aix-Marseille II, 2012

HDR tel-00709758v1