Sandrine Marlin

ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 8

Top Venues

Clinical genetics

Molecular genetics & genomic medicine

Audiology research

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Nicolas Rive Le Gouard, Valentin Lafond-Rive, Laurence Jonard, Natalie Loundon, Sophie Achard, Laurence Heidet, Isabelle Mosnier, Stanislas Lyonnet, Frederic Brioude, Margaux Serey-Gaut, Sandrine Marlin
HDR syndrome: Large cohort and systematic review. Clinical genetics (2024)
William Bertani-Torres, Margaux Serey-Gaut, Judite de Oliveira, Christine Bole, Mélanie Parisot, Patrick Nistschké, Marie-Laure Maurin, Jean-Michel Lapierre, Natalie Loundon, Kahina Belhous, Nadège Bondurand, Sandrine Marlin, Véronique Pingault
A 22q13.1 duplication in mosaicism including SOX10. American journal of medical genetics. Part A (2023)
Laurence Jonard, Davide Brotto, Miguel Angel Moreno-Pelayo, Ignacio Del Castillo, Hannie Kremer, Ronald J E Pennings, Helena Caria, Graça Fialho, An Boudewyns, Guy Van Camp, Monika Ołdak, Dominika Oziębło, Naïma Deggouj, Romolo Daniele De Siati, Paolo Gasparini, Giorgia Girotto, Margriet Verstreken, Silvia Dossena, Sebastian Roesch, Saba Battelino, Katarina Trebušak Podkrajšek, Athanasia Warnecke, Thomas Lenarz, Anke Lesinski-Schiedat, Michel Mondain, Anne-Françoise Roux, Françoise Denoyelle, Natalie Loundon, Margaux Serey-Gaut, Patrizia Trevisi, Elisa Rubinato, Alessandro Martini, Sandrine Marlin
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment. Audiology research 13 (3) (2023)
Jérémy Dana, Guillaume Dorval, Christine Saint Martin, Kahina Belhous, Raphael Levy, Sandrine Marlin, Isabelle De Bie, Manon Mautret-Godefroy, Antonio Rausell, Marlène Rio, Elise Brischoux-Boucher, Tania Attié-Bitach, Nathalie Boddaert, Véronique Pingault
Investigating genotype-to-phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering. Clinical genetics (2023)
Godelieve Morel, Sylvain Ernest, Margaux Serey-Gaut, Laurence Jonard, Abeke Ralyath Balogoun, Marine Parodi, Natalie Loundon, Sophie Achard, Sandrine Marlin
RIPOR2: A new gene of non-syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal models. Clinical genetics (2023)
Ke Mao, Christelle Borel, Muhammad Ansar, Angad Jolly, Periklis Makrythanasis, Christine Froehlich, Justyna Iwaszkiewicz, Bingqing Wang, Xiaopeng Xu, Qiang Li, Xavier Blanc, Hao Zhu, Qi Chen, Fujun Jin, Harinarayana Ankamreddy, Sunita Singh, Hongyuan Zhang, Xiaogang Wang, Peiwei Chen, Emmanuelle Ranza, Sohail Aziz Paracha, Syed Fahim Shah, Valentina Guida, Francesca Piceci-Sparascio, Daniela Melis, Bruno Dallapiccola, Maria Cristina Digilio, Antonio Novelli, Monia Magliozzi, Maria Teresa Fadda, Haley Streff, Keren Machol, Richard Alan Lewis, Vincent Zoete, Gabriella Maria Squeo, Paolo Prontera, Giorgia Mancano, Giulia Gori, Milena Mariani, Angelo Selicorni, Stavroula Psoni, Helen Fryssira, Sofia Douzgou Houge, Sandrine Marlin, Saskia Biskup, Alessandro De Luca, Giuseppe Merla, Shouqin Zhao, Timothy C Cox, Andrew K Groves, James R. Lupski, Qingguo Zhang, Yong-Biao Zhang, Stylianos E Antonarakis
FOXI3 pathogenic variants cause one form of craniofacial microsomia. Nature communications 14 (1) (2023)
Maya Chopra, Richard C Caswell, Giulia Barcia, Sophie Rondeau, Laurence Jonard, Patrick Nitchké, Daniel Amram, Marc-Lionel Bellaiche, Veronique Abadie, Marine Parodi, Francoise Denoyelle, Andrew Hattersley, Christine Bole, Stanislas Lyonnet, Sandrine Marlin
Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1. European journal of human genetics : EJHG 30 (8) (2022)
Angèle Tingaud-Sequeira, Aurélien Trimouille, Sandrine Marlin, Estelle Lopez, Marie Berenguer, Souad Gherbi, Benoit Arveiler, Didier Lacombe, Caroline Rooryck
Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS. Molecular genetics & genomic medicine 8 (10) (2020)

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Publication Activity (10 Years)

Top Topics

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Sandrine Marlin