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R. Caumes · SciRah

Researcher profile · Semantic Scholar

R. Caumes

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R. Caumes — researcher profile on SciRah

h-index: 18
Works: 51
Citations: 979

Most-cited papers

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia
C. Gordon, F. Petit, M. Oufadem, C. Decaestecker +28 more
2012Journal of Medical Genetics100 citations
Semantic Scholar
15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.
C. Vanlerberghe, F. Petit, V. Malan, C. Vincent-Delorme +32 more
2015European Journal of Medical Genetics98 citations
Semantic Scholar
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families
G. Baujat, C. Huber, J. El Hokayem, R. Caumes +17 more
2013Journal of Medical Genetics92 citations Open access
Semantic Scholar
PFMG2025–integrating genomic medicine into the national healthcare system in France
Caroline Abadie, Aldja Abderrahmane, Ouarda Abdous, Carine Abel +496 more
2025The Lancet Regional Health - Europe61 citations Open access
Semantic Scholar
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
H. Stamberger, T. Hammer, E. Gardella, D. R. Vlaskamp +81 more
2020Genetics in Medicine56 citations Open access
Semantic Scholar
Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients
D. Lehalle, C. Gordon, M. Oufadem, Géraldine Goudefroye +32 more
2014Human Mutation56 citations Open access
Semantic Scholar
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients
M. Zollino, G. Marangi, Emanuela Ponzi, Daniela Orteschi +26 more
2015Journal of Medical Genetics50 citations
Semantic Scholar
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Caroline Nava, B. Cogné, A. Santini, E. Leitão +260 more
2024Nature Genetics49 citations Open access
Semantic Scholar
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
Xiang-Bin Jia, Shujie Zhang, Sen-Wei Tan, Bing Du +49 more
2022Science Advances47 citations Open access
Semantic Scholar
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
T. Smol, F. Petit, A. Piton, B. Keren +62 more
2018Neurogenetics41 citations Open access
Semantic Scholar
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
Thomas Husson, F. Lecoquierre, G. Nicolas, A. Richard +94 more
2023European Journal of Human Genetics29 citations Open access
Semantic Scholar
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum
Y. Crow, Heather Marshall, G. Rice, L. Seabra +64 more
2020American Journal of Medical Genetics. Part A28 citations Open access
Semantic Scholar
Brain malformations and seizures by impaired chaperonin function of TRiC
Florian Kraft, Piere Rodriguez-Aliaga, Wei-Xi Yuan, L. Franken +83 more
2024Science25 citations Open access
Semantic Scholar
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Juliette Coursimault, A. Guerrot, Michelle Morrow, C. Schramm +66 more
2021Human Genetics25 citations Open access
Semantic Scholar
Late onset epileptic spasms is frequent in MECP2 gene duplication: electroclinical features and long-term follow-up of 8 epilepsy patients.
R. Caumes, O. Boespflug-Tanguy, N. Villeneuve, L. Lambert +4 more
2014European journal of paediatric neurology25 citations
Semantic Scholar
The different clinical facets of SYN1-related neurodevelopmental disorders
I. Parenti, E. Leitão, A. Kuechler, L. Villard +48 more
2022Frontiers in Cell and Developmental Biology24 citations Open access
Semantic Scholar
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5
H. Happ, L. Sadleir, M. Zemel, G. de Valles-Ibáñez +51 more
2022Neurology19 citations Open access
Semantic Scholar
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals
Ariane Schmetz, Hermann-Josef Lüdecke, H. Surowy, Sugirtahn Sivalingam +46 more
2023Human Genetics18 citations Open access
Semantic Scholar
Phenotypic spectrum of SHANK2-related neurodevelopmental disorder.
R. Caumes, T. Smol, C. Thuillier, Marie Balerdi +3 more
2020European Journal of Medical Genetics18 citations
Semantic Scholar
Developmental epileptic encephalopathy in DLG4‐related synaptopathy
B. Kassabian, Amanda M. Levy, E. Gardella, Á. Aledo-Serrano +60 more
2023Epilepsia16 citations Open access
Semantic Scholar
Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication
T. Smol, C. Thuillier, Elise Boudry-Labis, A. Dieux-Coeslier +6 more
2019Neurogenetics14 citations
Semantic Scholar
Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey
M. Lefebvre, D. Sanlaville, N. Marle, C. Thauvin-Robinet +63 more
2016Clinical Genetics13 citations Open access
Semantic Scholar
DDX3X-related neurodevelopmental disorder in males – presenting a new cohort of 19 males and a literature review
Milou G. P. Kennis, D. Rots, A. Bouman, C. Ockeloen +24 more
2025European Journal of Human Genetics12 citations Open access
Semantic Scholar
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder
J. Ghoumid, F. Petit, O. Boute‐Bénéjean, F. Frénois +6 more
2017European Journal of Human Genetics12 citations Open access
Semantic Scholar
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Z. Gokce-Samar, A. Vetro, J. de Bellescize, Tiziana Pisano +60 more
2024Neurology7 citations Open access
Semantic Scholar
10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France
C. Messiaen, C. Racine, Ahlem Khatim, L. Soussand +107 more
2021Orphanet Journal of Rare Diseases7 citations Open access
Semantic Scholar
AUTS2-related Syndrome: Insights from a large European cohort.
L. Loberti, Loredaria Adamo, Enrica Antolini, Giulia Casamassima +71 more
2025Genetics in Medicine6 citations Open access
Semantic Scholar
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
Elisa Calì, Tania Quirin, C. Rocca, S. Efthymiou +125 more
2024Genetics in Medicine5 citations Open access
Semantic Scholar
NONO-related X-linked intellectual disability syndrome: further clinical and molecular delineation.
Pauline Planté-Bordeneuve, Simon Boussion, R. Caumes, M. Rama +7 more
2024European Journal of Medical Genetics5 citations Open access
Semantic Scholar
Long‐read sequencing of recurrent FGF12 duplications in epilepsy: Insights into structural mechanisms and aberrant isoforms
Jade Fauqueux, L. Chaton, P. Cleuziou, Anne-Sophie Diependaële +15 more
2025Epilepsia4 citations Open access
Semantic Scholar
Expanded phenotypic spectrum of UDP‐glucose‐6‐dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy
Pauline Planté-Bordeneuve, Simon Boussion, M. Rama, Perrine Brunelle +7 more
2024American Journal of Medical Genetics. Part A4 citations Open access
Semantic Scholar
TRIT1 deficiency: Two novel patients with four novel variants.
T. Smol, Perrine Brunelle, R. Caumes, O. Boute‐Bénéjean +11 more
2022European Journal of Medical Genetics4 citations Open access
Semantic Scholar
Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia
C. Mignot, Matthildi-Athina Papathanasiou-Terzi, C. Ravelli, E. Bosch +19 more
2026Movement Disorders2 citations Open access
Semantic Scholar
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study
S. El Chehadeh, S. Heide, C. Quélin, Marlène Rio +236 more
2025Genome Medicine2 citations Open access
Semantic Scholar
Combining long-read DNA and RNA sequencing to enhance molecular understanding of structural variations leading to copy gains
Jade Fauqueux, Jean-Pascal Meneboo, R. Caumes, L. Thomès +7 more
2025Computational and Structural Biotechnology Journal2 citations Open access
Semantic Scholar
How a paternal uniparental isodisomy of chromosome 17 leads to autosomal recessive limb-girdle muscular dystrophy R3.
Camille Verebi, R. Caumes, S. Chantot-Bastaraud, N. Deburgrave +6 more
2023Neuromuscular Disorders2 citations Open access
Semantic Scholar
Severe encephalitis in a previously healthy teenager: who is the real culprit?
E. Alidjinou, Anny Dewilde, R. Caumes, M. Lazrek +1 more
2014Journal of Clinical Virology2 citations
Semantic Scholar
ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature
Marion Lesieur-Sebellin, K. Wigby, E. Schaefer, Aurélie Gouronc +29 more
2025Journal of Medical Genetics1 citations Open access
Semantic Scholar
MED13L pathogenic missense variants impair protein stability and interaction, underlying diverse clinical outcomes
T. Smol, F. Frénois, M. Billotte, R. Caumes +7 more
2025HGG advances1 citations Open access
Semantic Scholar
Asphyxiating Thoracic Dysplasia: clinical and molecular review of 42 families
V. Cormier-Daire, C. Huber, J. Baujat, R. Caumes +4 more
2012Cilia1 citations Open access
Semantic Scholar
Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome
A. Coudert, Pauline Le Tanno, William Dufour, P. Edery +31 more
2026Journal of Medical Genetics0 citations
Semantic Scholar
Compound heterozygous structural variants resulting in CNTNAP2 biallelic loss-of-function: rare mechanisms unveiled by genome sequencing
Jade Fauqueux, R. Caumes, Cindy Colson, A. Trauffler +6 more
2026Human Genomics0 citations Open access
Semantic Scholar
Eating behaviour phenotype in the MYT1L-related neurodevelopmental disorder: a deep phenotyping study using standardized questionnaires
Juliette Coursimault, Emilie Guillon, F. Lecoquierre, Camille Charbonnier +23 more
2026Orphanet Journal of Rare Diseases0 citations Open access
Semantic Scholar
Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.
Marina Boon, Meghan R. Mulligan, Jolijn J. A. Verseput, B. Šakić +33 more
2026American Journal of Human Genetics0 citations
Semantic Scholar
5q31 duplications encompassing PURA are associated with a neurodevelopmental disorder.
Laurine Challeat, Solène Remize, T. Alouane, D. Laurenceau +18 more
2026European Journal of Human Genetics0 citations Open access
Semantic Scholar
Contribution of families using the GenIDA database to the description of MED13L syndrome and literature review
R. Caumes, Pauline Burger, Jean-Louis Mandel, H. Béhal +2 more
2025Journal of Neurodevelopmental Disorders0 citations Open access
Semantic Scholar
Table of Contents, Volume 194A, Number 12, December 2024
Rahi, A. Park, E. Marchi, Andrea L Gropman +131 more
2024American Journal of Medical Genetics. Part A0 citations Open access
Semantic Scholar
O46: GenIDA, an international participatory database to better characterize comorbidities of genetic forms of intellectual disability: insights on Koolen-de Vries syndrome
Pauline Burger, Florent Colin, Axelle Strehle, Timothée Mazzucotelli +15 more
2023Genetics in Medicine Open0 citations Open access
Semantic Scholar
Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy
H. Happ, L. Sadleir, M. Zemel, G. de Valles-Ibáñez +40 more
2022medRxiv0 citations Open access
Semantic Scholar
Table of Contents, Volume 185A, Number 1, January 2021
Rudolf Happle, Y. Crow, Heather Marshall, G. Rice +35 more
2020American Journal of Medical Genetics. Part A0 citations
Semantic Scholar

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