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Emmanuelle Ginglinger

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management
2009 · M. Anheim, M. Fleury, et al. · Neurogenetics · 189
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
2015 · Megana K Prasad, Véronique Geoffroy, et al. · Journal of Medical Genetics · 144
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Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine
2022 · Abdelkader Heddar, Cagri Ogur, et al. · EBioMedicine · 113
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Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
2013 · Graciana Jaureguiberry, Muriel De la Dure-Molla, et al. · Nephron Physiology · 111
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Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12
2003 · Clotilde Lagier‐Tourenne, E. Ginglinger, et al. · American Journal of Medical Genetics Part A · 84
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway
2016 · Christèle Dubourg, Wilfrid Carré, et al. · Human Mutation · 79
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De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
2022 · Xiangbin Jia, Shujie Zhang, et al. · Science Advances · 58
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Functional classification of ATM variants in ataxia‐telangiectasia patients
2019 · Alice Fiévet, Dorine Bellanger, et al. · Human Mutation · 46
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Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes
2022 · Catherine Schramm, Camille Charbonnier, et al. · Genome Medicine · 28
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Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients
2018 · Mathilde Lefebvre, Anne Dieux-Coeslier, et al. · Journal of Medical Genetics · 26
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype
2017 · Ange-Line Bruel, Stefania Bigoni, et al. · Journal of Medical Genetics · 22
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Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN Study Group
2023 · Emmanuelle Masson, Wen-Bin Zou, et al. · Pancreatology · 19
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Intrachromosomal triplication for the distal part of chromosome 15q
2005 · C. Schluth, M. G. Mattei, et al. · American Journal of Medical Genetics Part A · 19
Systematic analysis of SCN5A variants associated with inherited cardiac diseases
2024 · Alexis Hermida, Guillaume Jedraszak, et al. · Heart Rhythm · 18
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ARF1-related disorder: phenotypic and molecular spectrum
2023 · Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, et al. · Journal of Medical Genetics · 13
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Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS ‐positive variant patients
2024 · Didier Bessis, Anne‐Claire Bursztejn, et al. · Journal of the European Academy of Dermatology and Venereology · 7
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Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis
2023 · Emmanuelle Masson, Stéphanie Berthet, et al. · Pancreatology · 7
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The PRSS3P2 and TRY7 deletion copy number variant modifies risk for chronic pancreatitis
2022 · Emmanuelle Masson, Maren Ewers, et al. · Pancreatology · 7
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Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations
2025 · Médéric Jeanne, Nathalie Ronce, et al. · Journal of Medical Genetics · 5
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Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing—A Multicenter Cohort Study
2024 · Sarah Baer, Audrey Schalk, et al. · Pediatric Neurology · 4
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Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders
2024 · Valentin Ruault, Pauline Burger, et al. · Molecular Genetics & Genomic Medicine · 4
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The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients
2022 · M. Baz, V. Gondran-Teiller, et al. · Digestive Diseases and Sciences · 3
Syndrome de Griscelli de type 3 : un nouveau cas
2018 · H. Kassem Youssef, C. Ramstein, et al. · Annales de Dermatologie et de Vénéréologie · 3
Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS
2025 · Yordi-Michaël Bouhatous, Pauline Arnaud, et al. · Journal of Medical Genetics · 2
Evaluation of the contribution of trio-exome sequencing in selected prenatal indications
2026 · Manon Chretien, Julien Osouf, et al. · Frontiers in Genetics
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Works count: 31
Citation count: 1,011
H-index: 14
I10-index: 15
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