Publications by authors named "Damien Haye"

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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, Andrée Delahaye, Damien Haye

J Med Genet· March 2025

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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, Damien Haye

Clin Genet· November 2023

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Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.
Leïla Ghesh, Julie Désir, Damien Haye, Pauline Le Tanno, Françoise Devillard

Clin Genet· May 2023

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Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.
Julie Masson, Céline Pebrel-Richard, Matthieu Egloff, Mathilde Frétigny, Marion Beaumont, Damien Haye

Clin Genet· April 2023

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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Sayaka Kayumi, Luis A Pérez-Jurado, María Palomares, Sneha Rangu, Sarah E Sheppard, Damien Haye

Genet Med· November 2022

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Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.
Flavien Rouxel, Kevin Yauy, Guilaine Boursier, Vincent Gatinois, Mouna Barat-Houari, Damien Haye

Eur J Hum Genet· June 2022

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Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.
Roseline Vibert, Cyril Mignot, Boris Keren, Sandra Chantot-Bastaraud, Marie-France Portnoï, Damien Haye

Clin Genet· March 2022

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GM3 synthase deficiency in non-Amish patients.
Solveig Heide, Marie-Line Jacquemont, David Cheillan, Michel Renouil, Marilyn Tallot, Damien Haye

Genet Med· February 2022

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Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.
Médéric Jeanne, Marie-Laure Vuillaume, Dévina C Ung, Valerie E Vancollie, Christel Wagner, Damien Haye

Hum Genet· June 2021

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Characterization of PARP6 Function in Knockout Mice and Patients with Developmental Delay.
Anke Vermehren-Schmaedick, Jeffrey Y Huang, Madison Levinson, Matthew B Pomaville, Sarah Reed, Damien Haye

Cells· May 2021

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Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma.
Marion Aubert-Mucca, Julie Pernin-Grandjean, Sébastien Marchasson, Veronique Gaston, Christophe Habib, Damien Haye

Eur J Hum Genet· January 2021

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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Dara Tolchin, Jessica P Yeager, Priya Prasad, Naghmeh Dorrani, Alvaro Serrano Russi, Damien Haye

Am J Hum Genet· June 2020

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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Damien Haye

Nat Commun· January 2020

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Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.
Elizabeth J Bhoj, Damien Haye, Annick Toutain, Dominique Bonneau, Irene Kibæk Nielsen

Eur J Med Genet· December 2019

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Searching for secondary findings: considering actionability and preserving the right not to know.
Bertrand Isidor, Sophie Julia, Pascale Saugier-Veber, Paul-Loup Weil-Dubuc, Stéphane Bézieau, Damien Haye

Eur J Hum Genet· October 2019

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Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Anne-Claude Tabet, Thomas Rolland, Marie Ducloy, Jonathan Lévy, Julien Buratti, Damien Haye

NPJ Genom Med· July 2019

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Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.
Stéphanie Valence, Emmanuelle Cochet, Christelle Rougeot, Catherine Garel, Sandra Chantot-Bastaraud, Damien Haye

Genet Med· March 2019

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Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.
Agnès Viguier, Valérie Lauwers-Cances, Pascal Cintas, Véronique Manel, Sylviane Peudenier, Damien Haye

Neuromuscul Disord· February 2019

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A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Anne-Claude Tabet, Thomas Rolland, Marie Ducloy, Jonathan Lévy, Julien Buratti, Damien Haye

NPJ Genom Med· October 2017

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Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Paul Kuentz, Judith St-Onge, Yannis Duffourd, Jean-Benoît Courcet, Virginie Carmignac, Damien Haye

Genet Med· September 2017

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Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly.
Antoine Poli, Yoann Vial, Damien Haye, Sandrine Passemard, Manuel Schiff

Am J Med Genet A· July 2017

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Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.
Solveig Heide, Boris Keren, Thierry Billette de Villemeur, Sandra Chantot-Bastaraud, Christel Depienne, Damien Haye

J Pediatr· June 2017

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Failure of ossification of the occipital bone in mandibuloacral dysplasia type B.
Damien Haye, Hend Dridi, Jonathan Levy, Véronique Lambert, Maurice Lambert

Am J Med Genet A· October 2016

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Further delineation of the KAT6B molecular and phenotypic spectrum.
Tamsin Gannon, Rahat Perveen, Hélene Schlecht, Simon Ramsden, Beverley Anderson, Damien Haye

Eur J Hum Genet· September 2015

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A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels.
Affef Abidi, Jérôme J Devaux, Florence Molinari, Gisèle Alcaraz, François-Xavier Michon, Damien Haye

Neurobiol Dis· August 2015

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