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M. Chevarin · SciRah

Researcher profile · Semantic Scholar

M. Chevarin

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M. Chevarin — researcher profile on SciRah

h-index: 14
Works: 46
Citations: 742

Most-cited papers

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis
S. Nambot, J. Thevenon, P. Kuentz, Y. Duffourd +21 more
2017Genetics in Medicine208 citations Open access
Semantic Scholar
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing
A. Bruel, S. Nambot, Virginie Quéré, A. Vitobello +55 more
2019European Journal of Human Genetics51 citations Open access
Semantic Scholar
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature
S. Nambot, L. Faivre, G. Mirzaa, J. Thevenon +60 more
2020European Journal of Human Genetics32 citations Open access
Semantic Scholar
Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants
F. Lecoquierre, Y. Duffourd, A. Vitobello, A. Bruel +12 more
2019Genetics in Medicine31 citations Open access
Semantic Scholar
Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features
S. Moutton, A. Bruel, M. Assoum, M. Chevarin +14 more
2018Clinical Genetics31 citations
Semantic Scholar
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.
A. Bourchany, C. Thauvin-Robinet, D. Lehalle, A. Bruel +27 more
2017European Journal of Medical Genetics29 citations
Semantic Scholar
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
V. Carmignac, C. Mignot, E. Blanchard, P. Kuentz +40 more
2021Genetics in Medicine27 citations Open access
Semantic Scholar
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples
R. Wijngaard, G. Demidov, L. O'Gorman, Jordi Corominas-Galbany +25 more
2023European Journal of Human Genetics23 citations Open access
Semantic Scholar
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests
C. Thauvin-Robinet, J. Thevenon, S. Nambot, J. Delanne +29 more
2019European Journal of Human Genetics20 citations Open access
Semantic Scholar
Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes
Geoffroy Delplancq, G. Tarris, A. Vitobello, S. Nambot +16 more
2020American Journal of Medical Genetics. Part C, Seminars in Medical Genetics19 citations
Semantic Scholar
Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis.
A. Sorlin, A. Maruani, M. Aubriot‐Lorton, P. Kuentz +11 more
2017Journal of Investigative Dermatology19 citations Open access
Semantic Scholar
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders
E. Colin, Y. Duffourd, M. Chevarin, É. Tisserant +35 more
2023Frontiers in Cell and Developmental Biology18 citations Open access
Semantic Scholar
Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations
A. Garde, Jenny Cornaton, A. Sorlin, S. Moutton +38 more
2020Clinical Genetics16 citations
Semantic Scholar
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
D. Lehalle, Pierre Vabres, A. Sorlin, T. Bierhals +47 more
2020Journal of Medical Genetics16 citations Open access
Semantic Scholar
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
A. Denommé-Pichon, Stephan C. Collins, A. Bruel, A. Mikhaleva +30 more
2023Genetics in Medicine14 citations Open access
Semantic Scholar
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
M. Chevarin, Y. Duffourd, Rebecca A. Barnard, S. Moutton +68 more
2020Journal of Medical Genetics14 citations
Semantic Scholar
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
Aurélien Juven, S. Nambot, A. Piton, Nolwenn Jean-Marçais +36 more
2020European Journal of Human Genetics14 citations Open access
Semantic Scholar
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases
C. Racine, A. Denommé-Pichon, Camille Engel, F. Tran Mau-Them +32 more
2023Journal of Medical Genetics13 citations Open access
Semantic Scholar
Low risk of embryonic and other cancers in PIK3CA‐related overgrowth spectrum: Impact on screening recommendations
L. Faivre, J. Crépin, M. Réda, S. Nambot +59 more
2023Clinical Genetics13 citations Open access
Semantic Scholar
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants
E. Colin, Y. Duffourd, É. Tisserant, R. Relator +34 more
2022Frontiers in Cell and Developmental Biology13 citations Open access
Semantic Scholar
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity
Q. Thomas, Thierry Gautier, D. Marafi, T. Besnard +38 more
2021Genetics in Medicine13 citations Open access
Semantic Scholar
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders
F. Tran Mau-Them, S. Moutton, C. Racine, A. Vitobello +25 more
2020Human Genetics13 citations Open access
Semantic Scholar
Evaluation of Next-Generation Sequencing Applied to Cryptosporidium parvum and Cryptosporidium hominis Epidemiological Study
Eloïse Bailly, S. Valot, Anne Vincent, Y. Duffourd +7 more
2022Pathogens12 citations Open access
Semantic Scholar
Neutralization of HSF1 in cells from PIK3CA-related overgrowth spectrum patients blocks abnormal proliferation.
R. Da Costa, Steven De Almeida, M. Chevarin, S. Hadj-Rabia +7 more
2020Biochemical and Biophysical Research Communications - BBRC12 citations Open access
Semantic Scholar
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort
Philippine Garret, M. Chevarin, A. Vitobello, Simon Verdez +16 more
2022European Journal of Human Genetics11 citations Open access
Semantic Scholar
Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations
M. Theiler, L. Weibel, S. Christen-Zaech, V. Carmignac +8 more
2021Journal of the European Academy of Dermatology and Venereology11 citations
Semantic Scholar
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicate in leukemia-related JAK-STAT pathway.
J. Delanne, M. Lecat, P. Blackburn, E. Klee +31 more
2022European Journal of Medical Genetics8 citations Open access
Semantic Scholar
Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases
F. Tran Mau-Them, Y. Duffourd, A. Vitobello, A. Bruel +15 more
2021Molecular Genetics & Genomic Medicine7 citations Open access
Semantic Scholar
PERIGENOMED-CLINICS 1—the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France
Camille Level, C. Thauvin-Robinet, Christine Binquet, Y. Duffourd +45 more
2025BMJ Open6 citations Open access
Semantic Scholar
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
Aymeric Masson, Julien Paccaud, M. Orefice, E. Colin +91 more
2025Journal of Clinical Investigation5 citations Open access
Semantic Scholar
Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism.
F. Di Rocco, Maria Licci, A. Garde, C. Mottolese +6 more
2022European Journal of Medical Genetics4 citations Open access
Semantic Scholar
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
N. Bourgon, A. Garde, A. Bruel, M. Lefebvre +32 more
2022European Journal of Human Genetics4 citations Open access
Semantic Scholar
Mosaic NEK9 mutation, fibrous dysplasia and premature puberty in naevus comedonicus syndrome
V. Carmignac, G. Salomon, M. Severino‐Freire, Y. Duffourd +3 more
2021British Journal of Dermatology4 citations
Semantic Scholar
Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2 ‐Related Disorders to a Syndromic Multiple Tumor Phenotype
Marie Lucain, A. Vitobello, B. Sadikovic, Juliette Albuisson +8 more
2025American Journal of Medical Genetics. Part A3 citations Open access
Semantic Scholar
Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome.
P. Kuentz, Camille Engel, M. Laeng, M. Chevarin +17 more
2024British Journal of Dermatology3 citations
Semantic Scholar
Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome
É. Viora-Dupont, A. Denommé-Pichon, M. Chevarin, O. Patat +18 more
2023American Journal of Medical Genetics. Part A3 citations Open access
Semantic Scholar
Allelic heterogeneity in a patient with postzygotic MTOR‐related hypomelanosis of Ito with neurodevelopmental abnormalities
Camille Engel, M. Chevarin, J. Piard, Marine Abad +9 more
2024Clinical Genetics2 citations
Semantic Scholar
Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples
R. Wijngaard, G. Demidov, L. O'Gorman, Jordi Corominas-Galbany +25 more
2023European Journal of Human Genetics2 citations Open access
Semantic Scholar
Detection of the novel allele, HLA‐A*32:165, in a French individual by next‐generation sequencing
Simon Verdez, M. Chevarin, Victor Couturier, Damien Leleu +1 more
2022HLA2 citations
Semantic Scholar
The “extreme phenotype approach” applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles
M. Chevarin, Diana Alcantara, J. Albuisson, M. Collonge-Rame +21 more
2023OncoTarget1 citations Open access
Semantic Scholar
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
V. Carmignac, C. Mignot, E. Blanchard, P. Kuentz +40 more
2021Genetics in Medicine1 citations Open access
Semantic Scholar
First prenatal PI3K-AKT-mTOR pathway related overgrowth spectrum cohort: Phenotypic and molecular characterization
N. Bourgon, P. Kuentz, V. Carmignac, A. Sorlin +6 more
2019European Journal of Obstetrics, Gynecology, and Reproductive Biology1 citations
Semantic Scholar
ALG14 variants contribute to a congenital disorder of glycosylation characterized by congenital myasthenia and epilepsy
Jonathan Marquez, F. Rouxel, Fatima E It, Victor Couturier +34 more
2026HGG advances0 citations Open access
Semantic Scholar
A Genotype-First Approach in Individuals with Variable Intellectual Disability Permits BRWD3 Mutations’ Diagnosis
J. Delanne, Magali Lecat, P. Blackburn, E. Klee +31 more
2022Social Science Research Network0 citations Open access
Semantic Scholar
783 Molecular diagnosis of mosaic skin development disorders using next generation sequencing
V. Carmignac, P. Kuentz, A. Sorlin, M. Chevarin +9 more
20180 citations Open access
Semantic Scholar
Haploinsuﬀiciency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity
Q. Thomas, D. Marafi, T. Besnard, M. Willems +39 more
0 citations
Semantic Scholar

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