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M

Marjolaine Willems

universite de montpellier

36H-index
180Paper Count
4.0KCitation Count
Published Papers 90
Publication Date
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RAS/MAPK pathway modulation with simvastatin in children with Noonan syndrome: a multicentre, randomised, double-blind, placebo-controlled phase 3 trial
errEClinicalMedicine
IF10
err2026-08-11
err0
errOAAI
errThomas Edouard; Yline Capri; Alain Verloes; Cyril Amouroux; Marie Bournez; Patricia Bretones; Régis Coutant; Muriel Houang; Jessica Amsellem Jager; Marc de Kerdanet; Didier Lacombe; Christine Lefevre; Irène Netchine; Marc Nicolino; Patricia Pigeon Kherchiche; Rachel Reynaud; Massimiliano Rossi; Aurélie Berot; Julien Van Gils; Marjolaine Willems
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Measurement of Red Blood Cell Sorbitol Dehydrogenase Activity for Fast Screening of SORD-Related Neuropathies
errJournal of the Peripheral Nervous System
IF3.2
err2026-04-22
err0
PREAI
errNicholas Moro; Stanislas Francois; Christel Grondin; Sirine Ben Salem; Sreekanth Rajagopal; Duru Aykut; Louisa Arezki; José Manuel Larramendi; Claire Berquet; Marjolaine Willems; Céline Bouchet-Séraphin; Lucas W. Gauthier; Marina Konyukh; Juliette Svahn; Stéphane Moutereau; Katell Peoc'h; Céline Tard; Gorka Fernández-Eulate; Tanya Stojkovic; Arnaud Bruneel; Alexandre Raynor
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Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies
errGenome Medicine
IF11.2
err2026-04-08
err0
errOAAI
errAmandine Santini; Angelo Tognon; Anne-Claire Richard; Guillaume Velasco; Gilles Phan; Pauline Marzin; Fabien Maury; Angele May; Caroline Michot; Adela Chirita-Emandi; Jorge M. Saraiva; Maria Juliana Ballesta-Martinez; Stanislas Lyonnet; Ivona Sansović; Tahsin Stefan Barakat; Perrine Brunelle; Jamal Ghoumid; Xavier Le Guillou; Pauline Le Tanno; Marjolaine Willems; Martin Zenker; Ina Schanze; Stéphanie Moortgat; Bertrand Isidor; Alix Paulet; Alison Yeung; Jonathan Levy; Federica Ruscitti; Leticia Pias-Peleteiro; Marlène Rio; Thomas Courtin; Hamza Hadj Abdallah; Stéphanie Ducreux; Jean-Sérène Laloy; Paul Rollier; Anne-Marie Guerrot; Nicolas Chatron; Florence Demurger; Alice Goldenberg; Julian Delanne; Laurence Faivre; François Lecoquierre; Gaël Nicolas; Aurélie Coussement; Corinne Collet; Yvan Herenger; Matthieu Defrance; Valérie Cormier-Daire; Camille Charbonnier; Maud de Dieuleveult
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Linear and whorled hypermelanosis: A multicentre retrospective cohort of 33 patients
errJournal of the European Academy of Dermatology and Venereology
IF8
err2026-03-26
err0
PREAI
errMarion Descos; Paul Kuentz; Smail Hadj-Rabia; Stéphanie Mallet; Nathalia Bellon; Christine Chiaverini; Léa Grima; Myriam Marque; Pierre Meyer; Nicolas Molinari; Fanny Morice-Picard; Justine Pasteur; Solène Remize; Marjolaine Willems; Didier Bessis; Groupe de Recherche de la Société Française de Dermatologie Pédiatrique
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DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals
errEuropean Journal of Human Genetics
IF4.6
err2026-03-25
err0
PREAI
errQuentin Sabbagh; Camille Cenni; Sadegheh Haghshenas; Jean-Luc Alessandri; Mads Bak; Allan Bayat; Mouna Barat-Houari; Alfredo Brusco; Tiffany Busa; Anaïs Calaya; Paige Calvert; Valérie Cormier-Daire; Christine Coubes; Yannis Duffourd; Giovanni B. Ferrero; Anne Guimier; Damien Haye; Tina Duelund Hjortshøj; Laetitia Lambert; Karen Bonde Larsen; Carolyn Lauzon-Young; Gaetan Lesca; Nicolas Chatron; Michael A. Levy; Diego Lopergolo; Henri Margot; Haley McConkey; Pauline Monin; Godelieve Morel; Sophie Naudion; Mathilde Nizon; Sylvie Odent; Lucile Pinson; Linda Pons; Audrey Putoux; Marlène Rio; Massimiliano Rossi; Lucie Rouaux; Flavien Rouxel; Nathalie Ruiz-Pallares; Elodie Sanchez; Stefano Pagano; Filippo M. Santorelli; Clément Sauvestre; Jennifer C. Schymick; Victoria Mok Siu; Marta Spodenkiewicz; Matthew Tedder; Mylène Tharreau; Frédéric Tran Mau-Them; Zeynep Tümer; Irene Valenzuela; Julien Van Gils; Marjolaine Willems; Aron Kirchhoff; Peter Krawitz; Jennifer Kerkhof; Janneke H. M. Schuurs-Hoeijmakers; Bekim Sadikovic; David Geneviève
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Hypertrophic Cardiomyopathy as a Key Feature of MRAS-Related Noonan Syndrome: New Case and Comprehensive Literature Review
errPrenatal Diagnosis
IF2.7
err2026-03-01
err0
errOAAI
errMartineau, Romain; Wells, Constance; Fuchs, Florent; Collardeau-frachon, Sophie; Ruault, Valentin; Colomb, Sophie; Faure, Jean-michel; Bartholmot, Caroline; Vincenti, Marie; Ganne, Benjamin; Willems, Marjolaine
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Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies
errClinical Genetics
IF2.3
err2026-01-22
err0
errOAAI
errBertrand Chesneau; Marjolaine Willems; Abdelhakim Bouazzaoui; Léopoldine Lequeux; Julie Plaisancié; Salima El Chehadeh; Hélène Dollfus; Nicolas Chassaing
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Bleeding Disorders in Children With Genetic Diseases: A Narrative Review
errActa Paediatrica
IF2.1
err2026-01-01
err0
errOAAI
errCagol, Raphaelle; Barakat, Mariam Sbeity; Willems, Marjolaine; Akbaraly, Tasnime; Christine, Biron-andreani; Diaz, Isabelle; Theron, Alexandre
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Genetic Heterogeneity Underlying Familial Short Stature
errDiagnostics 2025, Vol. 15, Page 3127
IF3.3
err2025-12-09
err0
errOAAI
errMargot Comel; Mouna Barat-Houari; Fanny Alkar; Cyril Amouroux; Olivier Prodhomme; Nathalie Ruiz; Sophie Rondeau; Constance F. Wells; Yves-Marie Pers; David Geneviève; Marjolaine Willems
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ClinFly: an all-in-one method to translate, de-identify, and summarize medical reports in HPO format
errNAR GENOMICS AND BIOINFORMATICS
IF2.8
err2025-12-01
err0
PREAI
errGauthier, Lucas W.; Willems, Marjolaine; Chatron, Nicolas; Cenni, Camille; Meyer, Pierre; Ruault, Valentin; Wells, Constance; Gernet, Enody; Dunoyer, Caroline; Sabbagh, Quentin; Bardel, Claire; Genevieve, David; Yauy, Kevin
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STAG2-truncating variants reveal a mosaic STAG2-inactivation pattern and compensatory mechanisms involving cohesin complex remodeling
erriScience
IF4.1
err2025-11-22
err0
errOAAI
errMacarena Moronta-Gines; Marja W. Wessels; Valentina Casa; Thomas van Staveren; Amber Hof; Wendy K. Chung; Marjolaine Willems; Anna Sandestig; Irina Huening; Peter Turnpenny; Mathilde Lefebvre; Ilaria Parenti; Frank Kaiser; Jeroen Demmers; Wilfred F.J. van IJcken; Kerstin S. Wendt
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CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies
errScience Advances
IF12.5
err2025-10-17
err0
PREAI
errKamal Khan; Erika Tavares; Katherine Bishara; Aysegul Ozanturk; Leila Qebibo; Stephan Frangakis; Daniel G. Calame; Isabelle Meunier; Béatrice Bocquet; Rafal Ploski; Mohammad Ayman Al Khateeb; Dana Marafi; Luke Mansard; Lena Damaj; Richard A. Lewis; Farid Ullah; Thomas Arbogast; Jackson P. Ogden; Madeleine Harion; Marjolaine Willems; Maha S. Zaki; Tobias Bartolomaeus; Anne-Françoise Roux; James R. Lupski; Malgorzata Rydzanicz; Rami Abou Jamra; Francis Ramond; Elise Heon; Lydie Burglen; Erica E. Davis
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Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study
errGenome Medicine
IF11.2
err2025-10-04
err0
errOAAI
errSalima El Chehadeh; Solveig Heide; Chloé Quélin; Marlène Rio; Henri Margot; David Geneviève; Bertrand Isidor; Alice Goldenberg; Caroline Guégan; Gaëtan Lesca; Marjolaine Willems; Clothilde Ormières; Roseline Caumes; Tiffany Busa; Dominique Bonneau; Anne-Marie Guerrot; Isabelle Marey; Gabriella Vera; Pauline Marzin; Anaïs Philippe; Aurore Garde; Christine Coubes; Marie Vincent; Vincent Michaud; Cyril Mignot; Perrine Charles; Sabine Sigaudy; Patrick Edery; Didier Lacombe; Anne Boland; Frédérique Nowak; Marion Bouctot; Marie-Laure Humbert-Asensio; Alban Simon; Kirsley Chennen; Niki Sabour; Christelle Delmas; Gaël Nicolas; Pascale Saugier-Veber; François Lecoquierre; Kévin Cassinari; Boris Keren; Thomas Courtin; Jean-Madeleine De Sainte Agathe; Valérie Malan; Giulia Barcia; Frédéric Tran Mau-Them; Hana Safraou; Christophe Philippe; Julien Thévenon; Nicolas Chatron; Louis Januel; Amélie Piton; Virginie Haushalter; Bénédicte Gérard; Catherine Lejeune; Laurence Faivre; Damien Sanlaville; Delphine Héron; Sylvie Odent; Patrick Nitschké; Caroline Schluth-Bolard; Stanislas Lyonnet; Jean-François Deleuze; Christine Binquet; Hélène Dollfus
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Myeloid neoplasms risks for germline DDX41 pathogenic variants carriers
errEuropean Journal of Human Genetics
IF4.6
err2025-10-03
err0
PREAI
errMarie-Charlotte Villy; Youenn Drouet; Lise Larcher; Yoann Vial; Benjamin Dauriat; Léa Veyrune; Laurène Fenwarth; Marie-Mathilde Auboiroux; Lucie Freiman; Sophie Nambot; Léa Patay; Marjolaine Willems; Emma Lachaier; Bénédicte Bonte; Delphine Lebon; Mathis Lepage; Olivier Ingster; Nathalie Gachard; Thomas Cluzeau; Michael Loschi; Jean Soulier; Pascale Flandrin-Gresta; Pascal Turlure; Nicolas Duployez; Emmanuelle Clappier; Dominique Stoppa-Lyonnet; Christine Lasset; Chrystelle Colas; Marie Sebert
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Expanding the molecular spectrum of aggrecanopathies: exploring 24 patients with ACAN significant variants
errEuropean Journal of Human Genetics
IF4.6
err2025-09-23
err0
PREAI
errMelek Trigui; Nathalie Pallares-Ruiz; David Geneviève; Cyril Amouroux; Thomas Edouard; Sabine Sigaudy; Marjolaine Willems; Mouna Barat-Houari
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Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics
errEBIOMEDICINE
IF10.8
err2025-05-01
err0
PREAI
errMak, Christopher C. Y.; Klinkhammer, Hannah; Choufani, Sanaa; Reko, Nikola; Christman, Angela K.; Pisan, Elise; Chui, Martin M. C.; Lee, Mianne; Leduc, Fiona; Dempsey, Jennifer C.; Sanchez-Lara, Pedro A.; Bombei, Hannah M.; Bernat, John A.; Faivre, Laurence; Mau-Them, Frederic Tran; Palafoll, Irene Valenzuela; Canham, Natalie; Sarkar, Ajoy; Zarate, Yuri A.; Callewaert, Bert; Bukowska-Olech, Ewelina; Jamsheer, Aleksander; Zankl, Andreas; Willems, Marjolaine; Duncan, Laura; Isidor, Bertrand; Cogne, Benjamin; Boute, Odile; Vanlerberghe, Clemence; Goldenberg, Alice; Stolerman, Elliot; Low, Karen J.; Gilard, Vianney; Amiel, Jeanne; Lin, Angela E.; Gordon, Christopher T.; Doherty, Dan; Krawitz, Peter M.; Weksberg, Rosanna; Hsieh, Tzung-Chien; Chung, Brian H. Y.
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Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2025-04-27
err0
errOAAI
errBessis, Didier; Vidaud, Dominique; Meyer, Pierre; Pacot, Laurence; Villeon, de La G.; Bonnard, Adeline Alice; Capri, Yline; Coubes, Christine; Herman, Fanchon; Lacombe, Didier; Molinari, Nicolas; Poujade, Laura; Roubertie, Agathe; Van Gils, Julien; Verloes, Alain; Genevieve, David; Cave, Helene; Willems, Marjolaine
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Clinical and molecular overlap between nucleotide excision repair (NER) disorders and DYRK1A haploinsufficiency syndrome
errFRONTIERS IN NEUROSCIENCE
IF3.2
err2025-03-26
err0
errOAAI
errLe May, Nicolas; Courraud, Jeremie; Boujelbene, Imene; Obringer, Cathy; Ogi, Tomoo; Lehmann, Alan R.; Laffargue, Fanny; Lehalle, Daphne; Mizuno, Seiji; Mohammed, Shehla; Ormieres, Clothilde; Willems, Marjolaine; Laugel, Vincent; Calmels, Nadege
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Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants
errHUMAN GENETICS
IF3.6
err2025-02-07
err0
PREAI
errSerey-Gaut, Margaux; Balogoun, Ralyath; Jonard, Laurence; Lina-Granade, Genevieve; Touraine, Renaud; Willems, Marjolaine; Hepp, Nicola; Rendtorff, Nanna Dahl; Bertelsen, Mette; Loundon, Natalie; Couloigner, Vincent; Lemiere, Isabelle; de Oliveira, Judite; Romana, Serge; Porteret, Camille; Blanc, Pierre; Mansard, Luke; Marlin, Sandrine; Roux, Anne-Francoise; Pingault, Veronique
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A patient with TPCN2-related hypopigmentation and ocular phenotype
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2025-01-14
err1
errOAAI
errCourdier, Cecile; Michaud, Vincent; Diallo, Modibo; Plaisant, Claudio; Lasseaux, Eulalie; Helot, Isabelle; Philippe, Elodie; Vrielynck, Els; Willems, Marjolaine; Arveiler, Benoit
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Research Directions

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Co-authors
Cooperation Journals
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Evan E. Eichler
H-index: 191 · Papers: 864
J
James R. Lupski
H-index: 144 · Papers: 1.1K
I
Ingrid E. Scheffer
H-index: 141 · Papers: 1.0K
W
Wendy K. Chung
H-index: 127 · Papers: 1.3K
O
Orrin Devinsky
H-index: 121 · Papers: 1.2K
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