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Y. Hérenger · SciRah

Researcher profile · Semantic Scholar

Y. Hérenger

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Y. Hérenger — researcher profile on SciRah

h-index: 10
Works: 19
Citations: 942

Most-cited papers

AnnotSV: an integrated tool for structural variations annotation
Véronique Geoffroy, Y. Hérenger, Arnaud Kress, C. Stoetzel +3 more
2018Bioinform.413 citations Open access
Semantic Scholar
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
C. Redin, B. Gerard, Julia Lauer, Y. Hérenger +43 more
2014Journal of Medical Genetics265 citations Open access
Semantic Scholar
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition
A. Piton, Hélène Poquet, C. Redin, A. Masurel +17 more
2013European Journal of Human Genetics80 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
Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.
Y. Hérenger, C. Stoetzel, E. Schaefer, Sophie Scheidecker +9 more
2015European Journal of Medical Genetics26 citations
Semantic Scholar
New p22-Phox Monoclonal Antibodies: Identification of a Conformational Probe for Cytochrome b558
Yannick Campion, A. Jesaitis, M. Nguyen, A. Grichine +5 more
2009Journal of Innate Immunity26 citations Open access
Semantic Scholar
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Charlotte Gehin, M. A. Lone, Winston Lee, Laura Capolupo +81 more
2023Journal of Clinical Investigation24 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
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
Elisa Calì, M. Suri, M. Scala, Matteo P. Ferla +63 more
2022Genetics in Medicine11 citations Open access
Semantic Scholar
Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients
Y. Hérenger, E. Maes, L. François, J. Pasco +4 more
2019Molecular Genetics and Metabolism Reports11 citations Open access
Semantic Scholar
The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms
N. Chatron, G. Giannuzzi, P. Rollat-Farnier, F. Diguet +43 more
2020bioRxiv8 citations Open access
Semantic Scholar
Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient
V. Mihaylova, F. Chablais, Y. Hérenger, R. Spiegel +1 more
2020Neurology: Genetics6 citations Open access
Semantic Scholar
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting
A. Soilly, C. Robert-Viard, C. Besse, A. Bruel +66 more
2023BMC Health Services Research4 citations Open access
Semantic Scholar
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability
Amélie Cordovado, Y. Hérenger, Coline Cormier, E. López-Martín +17 more
2025Human Mutation3 citations Open access
Semantic Scholar
Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.
Florence Riccardi, Béatrice Desnous, Emilie Borloz, A. Lepine +75 more
2026Neurology2 citations Open access
Semantic Scholar
A Novel WARS2 Mutation in a Swiss Family With Predominant Generalized Dystonia Responsive to Trihexyphenidyl
V. Mihaylova, Y. Hérenger, T. Bethge, S. Bohlhalter
2023Journal of Clinical Neurology2 citations Open access
Semantic Scholar
Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies
A. Santini, Angelo Tognon, A. Richard, Guillaume Velasco +46 more
2026Genome Medicine0 citations Open access
Semantic Scholar
O32: ANKRD17-related neurodevelopmental syndrome (Chopra-Amiel-Gordon syndrome): Further characterization and emerging genotype-phenotype correlations
M. Bayraktutan, A. Sveden, R. Bélanger, Ellen Hanson +27 more
2025Genetics in Medicine Open0 citations Open access
Semantic Scholar
Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Charlotte Gehin, M. A. Lone, Winston Lee, Laura Capolupo +81 more
2025Journal of Clinical Investigation0 citations Open access
Semantic Scholar

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