Publications by authors named "Marc Planes"

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SWS1-complex in premature ovarian insufficiency: SWSAP1 as a new POI gene.
Anna Lokchine, Fang Zhang, Laurence Cluzeau, Lorrie Le Page, Marc-Antoine Belaud-Rotureau, Marc Planes

Hum Reprod· November 2025

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Should ITSN1 be considered as a Mendelian Parkinson's disease gene? Description of three novel families.
Guillaume Cogan, Christelle Tesson, Lisa Welment, Fabienne Clot, Eric LeGuern, Marc Planes

NPJ Parkinsons Dis· October 2025

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Systematic analysis of snRNA genes reveals frequent variants in dominant and recessive developmental and epileptic encephalopathies.
Elsa Leitão, Amandine Santini, Benjamin Cogne, Myriam Essid, Maria Athanasiadou, Marc Planes

medRxiv· September 2025

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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Marc Planes

Nat Genet· June 2025

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Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy.
Aurélie Gouronc, Elodie Javey, Anne-Sophie Leuvrey, Elsa Nourisson, Sylvie Friedmann, Marc Planes

Hum Mutat· April 2025

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Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.
Médéric Jeanne, Nathalie Ronce, Solène Remizé, Stéphanie Arpin, Geneviève Baujat, Marc Planes

J Med Genet· March 2025

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The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.
Francesca Furia, Amanda M Levy, Miel Theunis, Michael J Bamshad, Meghan N Bartos, Marc Planes

Clin Genet· November 2024

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POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.
Joseph D Symonds, Kristen L Park, Cyril Mignot, Stewart Macleod, Martin Armstrong, Marc Planes

Epilepsia· November 2024

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LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder.
James Chettle, Raymond J Louie, Olivia Larner, Robert Best, Kevin Chen, Marc Planes

HGG Adv· October 2024

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Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne-Claire Richard, Alexandra Afenjar, Marc Planes

Eur J Hum Genet· February 2024

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An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
Annelise Y Mah-Som, Jil Daw, Diana Huynh, Mengcheng Wu, Benjamin C Creekmore, Marc Planes

Am J Hum Genet· November 2023

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Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Monica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, Tugce B Balci, Bert Callewaert, Marc Planes

Am J Med Genet A· July 2023

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Atopic dermatitis in 15q24 microdeletion syndrome: a social media study.
Numa Deydier, Mélodie Salvado, Marc Planes, Laurent Misery, Claire Abasq-Thomas

Eur J Dermatol· April 2023

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A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.
Loïc Couloigner, Marc Planes, Chandran Ka, Séverine Audebert-Bellanger, Sylvia Redon

Clin Genet· March 2023

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Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.
Céline Bordet, Sandrine Brice, Carole Maupain, Estelle Gandjbakhch, Bertrand Isidor, Marc Planes

J Clin Med· May 2020

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SCA27 is a cause of early-onset ataxia and developmental delay.
Marc Planes, Caroline Rooryck, Marie-Laure Vuillaume, Lucie Besnard, Julie Bouron

Eur J Paediatr Neurol· March 2015

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A small de novo 16q24.1 duplication in a woman with severe clinical features.
Sylvia Quéméner-Redon, Caroline Bénech, Séverine Audebert-Bellanger, Gaëlle Friocourt, Marc Planes

Eur J Med Genet· April 2013

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