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W. Deb · SciRah

Researcher profile · Semantic Scholar

W. Deb

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W. Deb — researcher profile on SciRah

h-index: 17
Works: 40
Citations: 1,010

Most-cited papers

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
S. Küry, Geeske M. van Woerden, T. Besnard, M. Onori +102 more
2017American Journal of Human Genetics181 citations Open access
Semantic Scholar
Parallel derivation of isogenic human primed and naive induced pluripotent stem cells
Stéphanie Kilens, D. Meistermann, Diego Moreno, Caroline Chariau +62 more
2018Nature Communications121 citations Open access
Semantic Scholar
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
S. Küry, T. Besnard, F. Ebstein, Tahir N. Khan +57 more
2017American Journal of Human Genetics76 citations Open access
Semantic Scholar
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
T. Besnard, N. Sloboda, A. Goldenberg, S. Küry +35 more
2019Genetics in Medicine59 citations Open access
Semantic Scholar
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
B. Cogné, Sophie Ehresmann, Éliane Beauregard-Lacroix, J. Rousseau +111 more
2019American Journal of Human Genetics55 citations Open access
Semantic Scholar
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
N. Ragge, B. Isidor, P. Bitoun, S. Odent +25 more
2018Human Genetics53 citations Open access
Semantic Scholar
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
S. Küry, T. Besnard, F. Ebstein, Tahir N. Khan +57 more
2017American Journal of Human Genetics52 citations Open access
Semantic Scholar
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
S. Cuinat, M. Nizon, B. Isidor, A. Stegmann +47 more
2022Genetics in Medicine50 citations Open access
Semantic Scholar
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.
Martin Broly, B. Polevoda, K. Awayda, Ning Tong +33 more
2022American Journal of Human Genetics48 citations Open access
Semantic Scholar
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
F. Ebstein, S. Küry, V. Most, C. Rosenfelt +70 more
2023Science Translational Medicine34 citations Open access
Semantic Scholar
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases
Q. Testard, X. Vanhoye, K. Yauy, Marie-Emmanuelle Naud +33 more
2021Journal of Medical Genetics34 citations Open access
Semantic Scholar
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Berardo Rinaldi, Allan Bayat, L. Zachariassen, Jiahui Sun +83 more
2023Brain : a journal of neurology32 citations Open access
Semantic Scholar
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes
H. Alsharhan, Miao He, A. Edmondson, E. Daniel +22 more
2021Journal of Inherited Metabolic Disease29 citations Open access
Semantic Scholar
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
D. Rots, Taryn E. Jakub, Crystal Keung, A. Jackson +113 more
2023American Journal of Human Genetics28 citations Open access
Semantic Scholar
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
S. Küry, F. Ebstein, Alice Mollé, T. Besnard +54 more
2022American Journal of Human Genetics24 citations Open access
Semantic Scholar
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
B. Isidor, F. Ebstein, A. Hurst, M. Vincent +47 more
2021Genetics in Medicine18 citations Open access
Semantic Scholar
Penetrance, variable expressivity and monogenic neurodevelopmental disorders.
Servane de Masfrand, B. Cogné, M. Nizon, W. Deb +18 more
2024European Journal of Medical Genetics17 citations Open access
Semantic Scholar
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder
P. Blackburn, F. Ebstein, Tzung-Chien Hsieh, M. Motta +75 more
2024Annals of Neurology17 citations Open access
Semantic Scholar
Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives
S. Cuinat, S. Bézieau, W. Deb, Sandra Mercier +4 more
2023Genes and Diseases16 citations Open access
Semantic Scholar
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.
W. Deb, C. Rosenfelt, V. Vignard, J. J. Papendorf +43 more
2024American Journal of Human Genetics10 citations Open access
Semantic Scholar
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
S. Küry, Jin-Wei Zhang, T. Besnard, A. Caro-Llopis +76 more
2022Genetics in Medicine8 citations Open access
Semantic Scholar
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
S. Küry, Janelle E. Stanton, Geeske M. van Woerden, Tzung-Chien Hsieh +127 more
2024medRxiv7 citations Open access
Semantic Scholar
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
D. Picketts, G. Mirzaa, Keqin Yan, R. Relator +58 more
2023Research Square7 citations Open access
Semantic Scholar
Clinical and Neurodevelopmental Characteristics of Paralogous Gain‐of‐Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803
Emilie Sjøstrøm, Dorota Studniarczyk, Xin-Yao Dou, R. S. Dahl +21 more
2025Clinical Genetics6 citations Open access
Semantic Scholar
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
Ivana Lessel, Anja Barešić, I. Chinn, J. May +92 more
2025American Journal of Human Genetics6 citations Open access
Semantic Scholar
Further delineation of the SCAF4-associated neurodevelopmental disorder
Cosima M. Schmid, A. Gregor, A. Ruiz, Carmen Manso Bazús +77 more
2024European Journal of Human Genetics5 citations Open access
Semantic Scholar
De novo variants in the PSMC3 proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies.
F. Ebstein, S. Küry, V. Most, C. Rosenfelt +67 more
2021medRxiv4 citations Open access
Semantic Scholar
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
G. Mirzaa, Keqin Yan, R. Relator, M. Levesque +62 more
2025Nature Communications3 citations Open access
Semantic Scholar
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
S. Küry, Janelle E. Stanton, Geeske M. van Woerden, Amélie Bosc-Rosati +145 more
2025Nature Communications3 citations Open access
Semantic Scholar
Upregulation vs. loss of function of NTRK2 in 44 affected individuals leads to two distinct neurodevelopmental disorders.
Eva Berger, R. Jauss, J. Ranells, E. Zonic +45 more
2024Genetics in Medicine3 citations Open access
Semantic Scholar
Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome
Anna Gerasimenko, C. Mignot, Olivier Naggara, Florence Coulet +35 more
2024Clinical Genetics2 citations Open access
Semantic Scholar
Heterozygous alterations of GTF2I at the Williams-Beuren syndrome’s locus cause a neurodevelopmental disorder
Joanna Jury, T. Besnard, W. Deb, A. Toutain +20 more
2025Journal of Medical Genetics1 citations Open access
Semantic Scholar
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
D. Rots, Taryn E. Jakub, Crystal Keung, Adam Jackson +113 more
2025American Journal of Human Genetics1 citations
Semantic Scholar
C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder
Jung-Wan Mok, L. Mackay, Maria A. Blazo, Elizabeth Mizerik +20 more
2025Genetics in Medicine1 citations Open access
Semantic Scholar
[Neurodevelopmental proteasomopathies: New disorders caused by proteasome dysfunction].
S. Cuinat, S. Bézieau, W. Deb, Sandra Mercier +5 more
2024Medecine sciences : M/S1 citations Open access
Semantic Scholar
NOTCH2 related disorders: Description and review of the fetal presentation.
W. Deb, M. Joubert, B. Cogné, M. Vincent +4 more
2023European Journal of Medical Genetics1 citations Open access
Semantic Scholar
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder
Patrick R. Blackburn, F. Ebstein, Tzung-Chien Hsieh, M. Motta +71 more
2023medRxiv1 citations Open access
Semantic Scholar
De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder.
W. Deb, T. Besnard, F. Desprez, B. Cogné +54 more
2026Molecular Psychiatry0 citations Open access
Semantic Scholar
Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up
V. Vignard, M. Maillasson, Anne Bigot, S. Küry +19 more
2025EBioMedicine0 citations Open access
Semantic Scholar
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER
W. Deb, T. Besnard, F. Desprez, B. Cogné +40 more
2025medRxiv0 citations Open access
Semantic Scholar

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M. Nizon — researcher profile on SciRah

Elke Krüger×9

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Elke Krüger — researcher profile on SciRah

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R. Redon — researcher profile on SciRah

J. Rosenfeld×8

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J. Rosenfeld — researcher profile on SciRah