Publications by authors named "Vincent Delorme"

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Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature.
Fiona Leduc, Perrine Brunelle, Fabienne Escande, Nassima Ramdane, Laurence Bellengier, Catherine Vincent-Delorme

Eur J Hum Genet· November 2025

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AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions.
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent-Delorme

Am J Med Genet A· November 2025

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Frequency and characteristics of emphysema in adults with FLNA variants: a single-center study.
Arthur Michalski, Catherine Vincent-Delorme, Silvia Demoulin-Alexikova, Thomas Smol, Paul Felloni

Orphanet J Rare Dis· November 2025

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Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.
Camille Engel, Michaela Rendek, Jessica Assoumani, Emanuela Argilli, Francesca Ariani, Catherine Vincent-Delorme

Eur J Hum Genet· August 2025

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Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex Microphthalmia.
Julie Plaisancié, Clémentine Angée, Elisa Erjavec, Isabelle Raymond-Letron, Jean-Yves Douet, Catherine Vincent-Delorme

Invest Ophthalmol Vis Sci· August 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, Catherine Vincent-Delorme

Nat Genet· June 2025

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The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.
Cindy Colson, Marine Tessarech, Elise Boucher-Brischoux, Odile Boute-Benejean, Catherine Vincent-Delorme

Clin Genet· May 2025

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Chromosomal abnormalities in oocyte donor candidates: a French survey of over 8,200 karyotypes.
Vincent Puy, Badria Bennani Smires, Jean-Pierre Siffroi, Julie Barberet, Marion Bendayan, Catherine Vincent-Delorme

Fertil Steril· April 2025

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Generation of induced alveolar assembloids with functional alveolar-like macrophages.
Ji Su Kang, Youngsun Lee, Youngsun Lee, Dayeon Gil, Min Jung Kim, Vincent Delorme

Nat Commun· April 2025

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Saturation genome editing of reveals distinct dominant and recessive neurodevelopmental disorders.
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji, Elsa Leitão, Ruebena Dawes, Catherine Vincent-Delorme

medRxiv· 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, Catherine Vincent-Delorme

J Med Genet· March 2025

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NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation.
Pauline Planté-Bordeneuve, Simon Boussion, Roseline Caumes, Mélanie Rama, Caroline Thuillier, Catherine Vincent-Delorme

Eur J Med Genet· February 2025

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Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.
Fabiola Ceroni, Munevver B Cicekdal, Richard Holt, Elena Sorokina, Nicolas Chassaing, Catherine Vincent-Delorme

Nat Commun· October 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, Catherine Vincent-Delorme

Ann Neurol· September 2024

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Gnathodiaphyseal dysplasia: Diagnostic clues from two fetal cases and literature review.
Vivien Cuvelier, Detlef Trost, Morgane Stichelbout, Caroline Michot, Valérie Cormier-Daire, Catherine Vincent-Delorme

Prenat Diagn· August 2024

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Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Guillaume Jedraszak, Florence Jobic, Aline Receveur, Frédéric Bilan, Brigitte Gilbert-Dussardier, Catherine Vincent-Delorme

Am J Med Genet A· April 2024

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A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
Justin O Szot, Hartmut Cuny, Ella Mma Martin, Delicia Z Sheng, Kavitha Iyer

J Clin Invest· February 2024

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Novel Genetic and Phenotypic Expansion in Ameliorated -Related Disorders.
Emily Baum, Wenming Huang, Catherine Vincent-Delorme, Perrine Brunelle, Adam Antebi

Int J Mol Sci· February 2024

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Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Ariane Schmetz, Hermann-Josef Lüdecke, Harald Surowy, Sugirtahn Sivalingam, Ange-Line Bruel, Catherine Vincent-Delorme

Hum Genet· January 2024

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Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Laurence Faivre, Jean-Charles Crépin, Manon Réda, Sophie Nambot, Virginie Carmignac, Catherine Vincent-Delorme

Clin Genet· November 2023

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Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Véronique Caron, Nicolas Chassaing, Nicola Ragge, Felix Boschann, Angelina My-Hoa Ngu, Catherine Vincent-Delorme

Genet Med· August 2023

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Parenting stress and needs for social support in mothers and fathers of deaf or hard of hearing children.
Amélie Marie, Laëtitia Clabaut, Marjolaine Corbeil, Clémence Vanlerberghe, Catherine Vincent-Delorme

Front Psychol· August 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, Catherine Vincent-Delorme

medRxiv· June 2023

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The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Seth A Stafki, Johnnie Turner, Hannah R Littel, Christine C Bruels, Don Truong, Catherine Vincent-Delorme

Pediatr Neurol· April 2023

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Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Frédéric Tran Mau-Them, Julian Delanne, Anne-Sophie Denommé-Pichon, Hana Safraou, Ange-Line Bruel, Catherine Vincent-Delorme

Front Genet· March 2023

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