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Damien Haye

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
2017 · Paul Kuentz, Judith St-Onge, et al. · Genetics in Medicine · 131
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Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases
2018 · S. Baer, A. Afenjar, et al. · Clinical Genetics · 81
A framework to identify contributing genes in patients with Phelan-McDermid syndrome
2017 · Anne-Claude Tabet, Thomas Rolland, et al. · npj Genomic Medicine · 80
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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
2015 · Affef Abidi, Jérôme J. Devaux, et al. · Neurobiology of Disease · 77
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Further delineation of the KAT6B molecular and phenotypic spectrum
2014 · DDD study, Tamsin Gannon, et al. · European Journal of Human Genetics · 65
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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
2018 · Stéphanie Valence, Emmanuelle Cochet, et al. · Genetics in Medicine · 58
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies
2023 · Friederike Petzold, Katy Billot, et al. · Kidney International · 56
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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
2020 · Holger Hengel, Célia Bosso-Lefèvre, et al. · Nature Communications · 56
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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
2022 · Sayaka Kayumi, Luis A. Pérez-Jurado, et al. · Genetics in Medicine · 46
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Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
2017 · Solveig Heide, Boris Keren, et al. · The Journal of Pediatrics · 44
NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder
2018 · J. Lévy, S. Grotto, et al. · Clinical Genetics · 38
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas
2020 · Dara Tolchin, Jessica P. Yeager, et al. · The American Journal of Human Genetics · 34
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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
2018 · Elizabeth J. Bhoj, Damien Haye, et al. · European Journal of Medical Genetics · 31
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Prenatal findings in carpenter syndrome and a novel mutation in RAB23
2014 · Damien Haye, Corinne Collet, et al. · American Journal of Medical Genetics Part A · 30
EFNB2haploinsufficiency causes a syndromic neurodevelopmental disorder
2018 · J. Lévy, D. Haye, et al. · Clinical Genetics · 26
GM3 synthase deficiency in non-Amish patients
2021 · Solveig Heide, Marie-Line Jacquemont, et al. · Genetics in Medicine · 25
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study
2018 · Agnès Viguier, Valérie Lauwers-Cances, et al. · Neuromuscular Disorders · 25
Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth
2021 · Médéric Jeanne, Marie-Laure Vuillaume, et al. · Human Genetics · 23
Wnt/β-catenin pathway and cell adhesion deregulation in CSDE1-related intellectual disability and autism spectrum disorders
2021 · E. El Khouri, J. Ghoumid, et al. · Molecular Psychiatry · 20
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Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma
2020 · Marion Aubert-Mucca, Julie Pernin-Grandjean, et al. · European Journal of Human Genetics · 19
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Searching for secondary findings: considering actionability and preserving the right not to know
2019 · Bertrand Isidor, Sophie Julia, et al. · European Journal of Human Genetics · 17
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Failure of ossification of the occipital bone in mandibuloacral dysplasia type B
2016 · Damien Haye, Hend Dridi, et al. · American Journal of Medical Genetics Part A · 17
Low risk of embryonic and other cancers in PIK3CA ‐related overgrowth spectrum: Impact on screening recommendations
2023 · Laurence Faivre, Jean‐Charles Crépin, et al. · Clinical Genetics · 14
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Characterization of PARP6 Function in Knockout Mice and Patients with Developmental Delay
2021 · Anke Vermehren-Schmaedick, Jeffrey Y. Huang, et al. · Cells · 13
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Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly
2017 · Antoine Poli, Yoann Vial, et al. · American Journal of Medical Genetics Part A · 13
Works count: 41
Citation count: 1,091
H-index: 19
I10-index: 26
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