Publications by authors named "Pascal Joset"

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Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.
Amber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, Jan Prchal, Darina Prchalova, Pascal Joset

Genet Med· November 2025

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Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.
Johnny Bou-Rouphael, Auriane Cospain, Thomas Courtin, Boris Keren, Corentine Marie, Pascal Joset

Am J Hum Genet· November 2025

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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Ghayda M Mirzaa, Keqin Yan, Raissa Relator, Mathieu Levesque, Pranisha Jayasinghe, Pascal Joset

Nat Commun· November 2025

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Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.
Anneke T Vulto-van Silfhout, Ingrid M Jazet, Suzanne Yzer, Jeroen Pas, Serwet Demirdas, Pascal Joset

Genet Med· October 2025

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The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.
Neftalí Vazquez, Chanjae Lee, Irene Valenzuela, Thao P Phan, Camille Derderian, Pascal Joset

Nat Commun· July 2025

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Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling.
Paranchai Boonsawat, Reza Asadollahi, Dunja Niedrist, Katharina Steindl, Anaïs Begemann, Pascal Joset

Am J Hum Genet· September 2024

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Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Pascal Joset

Ann Neurol· September 2024

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The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.
Neftalí Vazquez, Chanjae Lee, Irene Valenzuela, Thao P Phan, Camille Derderian, Pascal Joset

bioRxiv· September 2024

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: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland.
Dennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, Isabel Filges, Pascal Joset

J Pers Med· June 2024

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Molecular and Phenotypic Characterization of the -Related Disorder.
Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, Tiziana Pisano, Laloe Monteiro, Pascal Joset

Neurology· January 2024

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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
David Picketts, Ghayda Mirzaa, Keqin Yan, Raissa Relator, Sara Timpano, Pascal Joset

Res Sq· September 2023

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Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies.
Ella Vintschger, Dennis Kraemer, Pascal Joset, Anselm H C Horn, Anita Rauch

Eur J Hum Genet· August 2023

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The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort.
Paolo Zanoni, Katharina Steindl, Heinrich Sticht, Beatrice Oneda, Pascal Joset

Eur J Hum Genet· July 2023

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Loss-of-function variants in cause a syndromic neurodevelopmental disorder.
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Pascal Joset

medRxiv· June 2023

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The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies.
Anna Grether, Ivan Ivanovski, Martina Russo, Anaïs Begemann, Katharina Steindl, Pascal Joset

Mol Genet Genomic Med· May 2023

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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Pascal Joset

Sci Adv· March 2023

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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Susan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E Christopher Partridge, Fatima E Abidi, Pascal Joset

Am J Hum Genet· February 2023

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A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A Micheil Innes, Pascal Joset

HGG Adv· January 2023

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The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
Geeske M van Woerden, Richelle Senden, Charlotte de Konink, Rossella A Trezza, Anwar Baban, Pascal Joset

Hum Mutat· October 2022

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Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
Lucia Laugwitz, Annette Seibt, Diran Herebian, Susana Peralta, Imke Kienzle, Pascal Joset

J Med Genet· September 2022

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Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Paranchai Boonsawat, Anselm H C Horn, Katharina Steindl, Alessandra Baumer, Pascal Joset

NPJ Genom Med· July 2022

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Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Doris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M Bosada, Gregor Dombrowsky, Simon G Williams, Pascal Joset

Genet Med· October 2021

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Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Doris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M Bosada, Gregor Dombrowsky, Simon G Williams, Pascal Joset

Genet Med· October 2021

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Confirmation of Ogden syndrome as an X-linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature.
Laura Gogoll, Katharina Steindl, Pascal Joset, Markus Zweier, Alessandra Baumer

Am J Med Genet A· August 2021

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CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Michelle E Ernst, Evan H Baugh, Amanda Thomas, Louise Bier, Natalie Lippa, Pascal Joset

Epilepsia· July 2021

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