Sandrine Marlin - Publications, H-index & Citations

Sandrine Marlin

centre de référence

56H指数

233论文数

1.5W被引数

收录论文 64

发表时间

Monoallelic and Biallelic FOXP4 Variants Cause Short Stature, Dysmorphic Features, Neurodevelopmental, Heart, and Congenital Abnormalities 单等位基因和双等位基因FOXP4变异导致身材矮小、畸形特征、神经发育、心脏和先天性异常

npj Genomic Medicine

IF4.8

2026-08-13

OAAI

Essa Alharby; Malak Ali Alghamdi; Abeer A. Alsofyani; Eissa A. Faqeih; Mohammed Saleh; Chaya N. Murali; Rachel Franciskovich; Jerica Lenberg; Jennifer Friedman; Robin-Tobias Jauss; Rami Abou Jamra; Sophie Rondeau; Sandrine Marlin; Daniel G. Calame; Arthur Sorlin; Jean-Paul Hermand; Mohammed Abdullah Alotaibi; Nada A. Almarghalani; Adriane Cardoso-Demartini; Laurana de Polli Cellin; Nathalia Lisboa Gomes; James R. Lupski; Amel Bouchatal; Julien Van Gils; Benjamin Dauriat; Khaled K. Abu-Amero; Alexander Augusto de Lima Jorge; Almohanad A. Alkayyal; Ahmad Bakur Mahmoud; Naif A. M. Almontashiri

Genes

IF2.8

2026-05-21

OAAI

Ralyath Balogoun; Margaux Serey-Gaut; Véronique Pingault; Isabelle Lemiere; Geneviève Lina-Granade; Geoffroy Delplancq; Anne Marie Guerrot; Annick Toutain; Delphine Dupin-Deguine; Marine Legendre; Estelle Colin; Natalie Loundon; Laurence Jonard; Sandrine Marlin

Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization 更正：CNOT3相关神经发育障碍的全面分析：表型和基因型特征

European Journal of Human Genetics

IF4.6

2026-04-02

PREAI

Camille Engel; Michaela Rendek; Jessica Assoumani; Emanuela Argilli; Francesca Ariani; Anne-Laude Avice-Denizet; Emilia K. Bijlsma; Pierre Blanc; Lucia Pia Bruno; Bert Callewaert; Valeria Capra; Michele Carullo; Bertrand Chesneau; Sandra Coppens; Cynthia Curry; Breanne Dale; Eric Dahlen; Andrée Delahaye-Duriez; Anne-Sophie Denommé-Pichon; Bénédicte Demeer; Lenka Dvořáková; Jan Fischer; David Geneviève; Thea Giacomini; Mette M. Handrup; Delphine Heron; Irina Hüning; Michelle Iacomino; Bertrand Isidor; Boris Keren; Stanislav Kmoch; David A. Koolen; Andrea Kübler; Jana Laštůvková; Carolyn Le; Jonathan Levy; Caterina Lo Rizzo; Silvia Maitz; Sandrine Marlin; Cyril Mignot; Ghayda Mirzaa; Inga Nagel; Sebastian Neuens; Lenka Nosková; Emily Pao; Anna Pecková; Julie Plaisancie; Joseph Porrmann; Flavia Privitera; André Reis; Alessandra Renieri; Marlène Rio; Alyssa Rippert; Lukáš Ryba; Marcello Scala; Jolanda H. Schieving; Elliott H. Sherr; Andrew Shuen; Richard Sidlow; Thomas Smol; Julie Soblet; Pasquale Striano; Mohnish Suri; Hannes Syryn; Frédéric Tran Mau-Them; Andre M. Travessa; Julien Van Gils; Georgia Vasileiou; Jolijn J. A. Verseput; Catheline Vilain; Catherine Vincent-Delorme; Emílie Vyhnálková; Emma L. Wakeling; Pia Zacher; Federico Zara; Paul Kuentz; Juliette Piard

Vestibular Deficit in Patients with Waardenburg Syndrome 沃登堡综合征患者的前庭功能缺陷

Biomedicines 2025, Vol. 13, Page 2021

IF3.9

2025-08-21

PREAI

Mathilde Benifla; Margaux Serey-Gaut; Emilie Bois; Salma Jbyeh; Natacha Teissier; Monique Elmaleh-Bergès; Laurence Jonard; Véronique Pingault; Natalie Loundon; Kahina Belhous; Sandrine Marlin; Audrey Maudoux

Bilateral Enlarged Vestibular Aqueduct: Auditory, Genetic and Radiological Characterization, and Benefits of Cochlear Implants 双侧前庭导水管扩大：听觉、遗传和放射学特征及人工耳蜗植入的益处

jama otolaryngology head neck surgery

IF0

2025-08-04

OAAI

Augustin Vigouroux MD; Benjamin Glemain MD; Renato Torres MD, PhD; Laurence Jonard PharmD, PhD; Natalie Loundon MD; Evelyne Ferrary MD, PhD; Isabelle Mosnier MD; Hannah Daoudi MD; Sandrine Marlin MD, PhD; Ghizlene Lahlou MD, PhD

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization CNOT3-related神经发育障碍的综合分析: 表型和基因型特征

European Journal of Human Genetics

IF4.6

2025-06-25

PREAI

Camille Engel; Michaela Rendek; Jessica Assoumani; Emanuela Argilli; Francesca Ariani; Anne-Laude Avice-Denizet; Emilia K. Bijlsmaa; Pierre Blanc; Lucia Pia Bruno; Bert Callewaert; Valeria Capra; Michele Carullo; Bertrand Chesneau; Sandra Coppens; Cynthia Curry; Breanne Dale; Eric Dahlen; Andrée Delahaye-Duriez; Anne-Sophie Denommé-Pichon; Bénédicte Demeer; Lenka Dvořáková; Jan Fischer; David Geneviève; Thea Giacomini; Mette M. Handrup; Delphine Heron; Irina Hüning; Michelle Iacomino; Bertrand Isidor; Boris Keren; Stanislav Kmoch; David A. Koolen; Andrea Kübler; Jana Laštůvková; Carolyn Le; Jonathan Levy; Caterina Lo Rizzo; Silvia Maitz; Sandrine Marlin; Cyril Mignot; Ghayda Mirzaa; Inga Nagel; Sebastian Neuens; Lenka Nosková; Emily Pao; Anna Pecková; Julie Plaisancie; Joseph Porrmann; Flavia Privitera; André Reis; Alessandra Renieri; Marlène Rio; Alyssa Rippert; Lukáš Ryba; Marcello Scala; Jolanda H. Schieving; Elliott H. Sherr; Andrew Shuen; Richard Sidlow; Thomas Smol; Julie Soblet; Pasquale Striano; Mohnish Suri; Hannes Syryn; Frédéric Tran Mau-Them; Andre M. Travessa; Julien Van Gils; Georgia Vasileiou; Jolijn J. A. Verseput; Catheline Vilain; Catherine Vincent-Delorme; Emílie Vyhnálková; Emma L. Wakeling; Pia Zacher; Federico Zara; Paul Kuentz; Juliette Piard

Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants

HUMAN GENETICS

IF3.6

2025-02-07

PREAI

Serey-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

Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay

MOLECULAR PSYCHIATRY

IF10.1

2024-10-29

PREAI

Tan, Senwei; Zhang, Qiumeng; Zhan, Rui; Luo, Si; Han, Yaoling; Yu, Bin; Muss, Candace; Pingault, Veronique; Marlin, Sandrine; Delahaye, Andree; Peters, Sophia; Perne, Claudia; Kreiss, Martina; Spataro, Nino; Trujillo-Quintero, Juan Pablo; Racine, Caroline; Tran-Mau-Them, Frederic; Phornphutkul, Chanika; Besterman, Aaron D.; Martinez, Julian; Wang, Xiuxia; Tian, Xiaoyu; Srivastava, Siddharth; Urion, David K.; Madden, Jill A.; Saif, Hind Al; Morrow, Michelle M.; Begtrup, Amber; Li, Xing; Jurgensmeyer, Sarah; Leahy, Peter; Zhou, Shimin; Li, Faxiang; Hu, Zhengmao; Tan, Jieqiong; Xia, Kun; Guo, Hui

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus

BRAIN

IF11.7

2024-06-04

PREAI

Duy, Phan Q.; Jux, Bettina; Zhao, Shujuan; Mekbib, Kedous Y.; Dennis, Evan; Dong, Weilai; Nelson-Williams, Carol; Mehta, Neel H.; Shohfi, John P.; Juusola, Jane; Allington, Garrett; Smith, Hannah; Marlin, Sandrine; Belhous, Kahina; Monteleone, Berrin; Schaefer, G. Bradley; Pisarska, Margareta D.; Vasquez, Jaime; Estrada-Veras, Juvianee, I; Keren, Boris; Mignot, Cyril; Flore, Leigh A.; Palafoll, Irene, V; Alper, Seth L.; Lifton, Richard P.; Haider, Shozeb; Moreno-De-Luca, Andres; Jin, Sheng Chih; Kolanus, Waldemar; Kahle, Kristopher T.

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2023-10-23

OAAI

Husson, Thomas; Lecoquierre, Francois; Nicolas, Gael; Richard, Anne-Claire; Afenjar, Alexandra; Audebert-Bellanger, Severine; Badens, Catherine; Bilan, Frederic; Bizaoui, Varoona; Boland, Anne; Bonnet-Dupeyron, Marie-Noelle; Brischoux-Boucher, Elise; Bonnet, Celine; Bournez, Marie; Boute, Odile; Brunelle, Perrine; Caumes, Roseline; Charles, Perrine; Chassaing, Nicolas; Chatron, Nicolas; Cogne, Benjamin; Colin, Estelle; Cormier-Daire, Valerie; Dard, Rodolphe; Dauriat, Benjamin; Delanne, Julian; Deleuze, Jean-Francois; Demurger, Florence; Denomme-Pichon, Anne-Sophie; Depienne, Christel; Dieux, Anne; Dubourg, Christele; Edery, Patrick; El Chehadeh, Salima; Faivre, Laurence; Fergelot, Patricia; Fradin, Melanie; Garde, Aurore; Genevieve, David; Gilbert-Dussardier, Brigitte; Goizet, Cyril; Goldenberg, Alice; Gouy, Evan; Guerrot, Anne-Marie; Guimier, Anne; Harzalla, Ines; Heron, Delphine; Isidor, Bertrand; Lacombe, Didier; Horn, Xavier Le Guillou; Keren, Boris; Kuechler, Alma; Lacaze, Elodie; Lavillaureix, Alinoe; Lehalle, Daphne; Lesca, Gaetan; Lespinasse, James; Levy, Jonathan; Lyonnet, Stanislas; Morel, Godelieve; Jean-Marcais, Nolwenn; Marlin, Sandrine; Marsili, Luisa; Mignot, Cyril; Nambot, Sophie; Nizon, Mathilde; Olaso, Robert; Pasquier, Laurent; Perrin, Laurine; Petit, Florence; Pingault, Veronique; Piton, Amelie; Prieur, Fabienne; Putoux, Audrey; Planes, Marc; Odent, Sylvie; Quelin, Chloe; Quemener-Redon, Sylvia; Rama, Melanie; Rio, Marlene; Rossi, Massimiliano; Schaefer, Elise; Rondeau, Sophie; Saugier-Veber, Pascale; Smol, Thomas; Sigaudy, Sabine; Touraine, Renaud; Mau-Them, Frederic Tran; Trimouille, Aurelien; Van Gils, Julien; Vanlerberghe, Clemence; Vantalon, Valerie; Vera, Gabriella; Vincent, Marie; Ziegler, Alban; Guillin, Olivier; Campion, Dominique; Charbonnier, Camille

FOXI3 pathogenic variants cause one form of craniofacial microsomia

NATURE COMMUNICATIONS

IF15.7

2023-04-11

OAAI

Mao, Ke; Borel, Christelle; Ansar, Muhammad; Jolly, Angad; Makrythanasis, Periklis; Froehlich, Christine; Iwaszkiewicz, Justyna; Wang, Bingqing; Xu, Xiaopeng; Li, Qiang; Blanc, Xavier; Zhu, Hao; Chen, Qi; Jin, Fujun; Ankamreddy, Harinarayana; Singh, Sunita; Zhang, Hongyuan; Wang, Xiaogang; Chen, Peiwei; Ranza, Emmanuelle; Paracha, Sohail Aziz; Shah, Syed Fahim; Guida, Valentina; Piceci-Sparascio, Francesca; Melis, Daniela; Dallapiccola, Bruno; Digilio, Maria Cristina; Novelli, Antonio; Magliozzi, Monia; Fadda, Maria Teresa; Streff, Haley; Machol, Keren; Lewis, Richard A.; Zoete, Vincent; Squeo, Gabriella Maria; Prontera, Paolo; Mancano, Giorgia; Gori, Giulia; Mariani, Milena; Selicorni, Angelo; Psoni, Stavroula; Fryssira, Helen; Douzgou, Sofia; Marlin, Sandrine; Biskup, Saskia; De Luca, Alessandro; Merla, Giuseppe; Zhao, Shouqin; Cox, Timothy C.; Groves, Andrew K.; Lupski, James R.; Zhang, Qingguo; Zhang, Yong-Biao; Antonarakis, Stylianos E.

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology (vol 3, 100102, 2022)

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2023-01-01

OAAI

Sobering, Andrew K.; Bryant, Laura M.; Li, Dong; McGaughran, Julie; Maystadt, Isabelle; Moortgat, Stephanie; Graham, John M., Jr.; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Vogt, Julie; Morton, Jenny; Brasch-Andersen, Charlotte; Steenhof, Maria; Hansen, Lars Kjaersgaard; Adler, Elodie; Lyonnet, Stanislas; Pingault, Veronique; Sandrine, Marlin; Ziegler, Alban; Donald, Tyhiesia; Nelson, Beverly; Holt, Brandon; Petryna, Oleksandra; Firth, Helen; McWalter, Kirsty; Zyskind, Jacob; Telegrafi, Aida; Juusola, Jane; Person, Richard; Bamshad, Michael J.; Earl, Dawn; Tsai, Anne Chun-Hui; Yearwood, Katherine R.; Marco, Elysa; Nowak, Catherine; Douglas, Jessica; Hakonarson, Hakon; Bhoj, Elizabeth J.

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2022-07-01

OAAI

Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2022-05-20

OAAI

Chopra, Maya; Caswell, Richard; Barcia, Giulia; Rondeau, Sophie; Jonard, Laurence; Nitchke, Patrick; Amram, Daniel; Bellaiche, Marc-Lionel; Abadie, Veronique; Parodi, Marine; Denoyelle, Francoise; Hattersley, Andrew; Bole, Christine; Lyonnet, Stanislas; Marlin, Sandrine

Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2022-04-28

OAAI

Smirnov, Vasily M.; Nassisi, Marco; Mohand-Said, Saddek; Bonnet, Crystel; Aubois, Anne; Devisme, Celine; Dib, Thilissa; Zeitz, Christina; Loundon, Natalie; Marlin, Sandrine; Petit, Christine; Bodaghi, Bahram; Sahel, Jose-Alain; Audo, Isabelle

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

HUMAN MUTATION

IF3.7

2022-03-07

OAAI

Vegas, Nancy; Demir, Zeynep; Gordon, Christopher T.; Breton, Sylvain; Tavares, Vanessa L. Romanelli; Moisset, Hugo; Zechi-Ceide, Roseli; Kokitsu-Nakata, Nancy M.; Kido, Yasuhiro; Marlin, Sandrine; Halem, Souad Gherbi; Meerschaut, Ilse; Callewaert, Bert; Chung, Brian; Revencu, Nicole; Lehalle, Daphne; Petit, Florence; Propst, Evan J.; Papsin, Blake C.; Phillips, John H.; Jakobsen, Linda; Le Tanno, Pauline; Thevenon, Julien; McGaughran, Julie; Gerkes, Erica H.; Leoni, Chiara; Kroisel, Peter; Tan, Tiong Y.; Henderson, Alex; Terhal, Paulien; Basel-Salmon, Lina; Alkindy, Adila; White, Susan M.; Passos-Bueno, Maria R.; Pingault, Veronique; De Pontual, Loic; Amiel, Jeanne

Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss

HUMAN MOLECULAR GENETICS

IF3.2

2021-05-31

OAAI

Bassani, Sissy; van Beelen, Edward; Rossel, Mireille; Voisin, Norine; Morgan, Anna; Arribat, Yoan; Chatron, Nicolas; Chrast, Jacqueline; Cocca, Massimiliano; Delprat, Benjamin; Faletra, Flavio; Giannuzzi, Giuliana; Guex, Nicolas; Machavoine, Roxane; Pradervand, Sylvain; Smits, Jeroen J.; van de Kamp, Jiddeke M.; Ziegler, Alban; Amati, Francesca; Marlin, Sandrine; Kremer, Hannie; Locher, Heiko; Maurice, Tangui; Gasparini, Paolo; Girotto, Giorgia; Reymond, Alexandre

Dopachrome tautomerase variants in patients with oculocutaneous albinism 眼皮肤白化病患者的Dopachrome互变异构酶变体

GENETICS IN MEDICINE

IF6.2

2021-03-01

OAAI

Pennamen, Perrine; Tingaud-Sequeira, Angele; Gazova, Iveta; Keighren, Margaret; McKie, Lisa; Marlin, Sandrine; Gherbi Halem, Souad; Kaplan, Josseline; Delevoye, Cedric; Lacombe, Didier; Plaisant, Claudio; Michaud, Vincent; Lasseaux, Eulalie; Javerzat, Sophie; Jackson, Ian; Arveiler, Benoit

Arterial spin labeling brain MRI study to evaluate the impact of deafness on cerebral perfusion in 79 children before cochlear implantation

NEUROIMAGE-CLINICAL

IF3.6

2021-01-01

OAAI

Coez, Arnaud; Fillon, Ludovic; Saitovitch, Ana; Rutten, Caroline; Marlin, Sandrine; Boisgontier, Jennifer; Vincon-Leite, Alice; Lemaitre, Herve; Grevent, David; Roux, Charles-Joris; Dangouloff-Ros, Volodia; Levy, Raphael; Bizaguet, Eric; Rouillon, Isabelle; Garabedian, Erea Noel; Denoyelle, Francoise; Zilbovicius, Monica; Loundon, Natalie; Boddaert, Nathalie

Mutation m.3395A > G in MT-ND1 leads to variable pathologic manifestations

HUMAN MOLECULAR GENETICS

IF3.2

2020-02-03

PREAI

Cortes, Nicolas Gutierrez; Pertuiset, Claire; Dumont, Elodie; Borlin, Marine; Da Costa, Barbara; Le Guedard, Marina; Stojkovic, Tanya; Loundon, Natalie; Rouillon, Isabelle; Nadjar, Yann; Letellier, Thierry; Jonard, Laurence; Marlin, Sandrine; Rocher, Christophe

研究方向