Author

Sara Cabet

Observed names: C Cunha Sara, Cabet Sara, Cabet, S, Cabet, S., Cabet, Sara, S. Cabet, S., Cabet, Sarah Cabet

Institutions: Lyon 1 Université, Hôpital Necker-Enfants Malades, Centre National de la Recherche Scientifique, Inserm, Université de Lyon, Université Paris Cité, Hôpital Femme Mère Enfant, Institut Necker Enfants Malades, Hospices Civils de Lyon, Institut NeuroMyoGène, Institut des Maladies Génétiques Imagine, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle

Observed institutions: Lyon 1 Université, Hôpital Necker-Enfants Malades, Centre National de la Recherche Scientifique, Inserm, Université de Lyon, Université Paris Cité, The Francis Crick Institute, Hôpital Femme Mère Enfant, Institut Necker Enfants Malades, Centre de Recherche en Neurosciences de Lyon, Hospices Civils de Lyon, Institut NeuroMyoGène, Physiopathologie, diagnostic et traitements des maladies musculo-squelettiques, Institut des Maladies Génétiques Imagine, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, UCL Queen Square Institute of Neurology, Institut NeuroMyoGène - Appui à la recherche, University College London, University of Genoa

ORCID: 0000-0003-0115-2586

Observed ORCID: 0000-0003-0115-2586

OpenAlex ID: A5047713489

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

2021 · Francesca Clementina Radio, Kaifang Pang, et al. · The American Journal of Human Genetics · 88

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PFMG2025–integrating genomic medicine into the national healthcare system in France

2025 · Caroline Abadie, Aldja Abderrahmane, et al. · The Lancet Regional Health - Europe · 57

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A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants

2019 · Nicolas Chatron, Sara Cabet, et al. · Brain · 30

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Two different prenatal imaging cerebral patterns of tubulinopathy

2020 · S. Cabet, K. Karl, et al. · Ultrasound in Obstetrics and Gynecology · 24

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Prenatal Imaging Features and Postnatal Outcome of Short Corpus Callosum: A Series of 42 Cases

2021 · Caroline Bartholmot, Sara Cabet, et al. · Fetal Diagnosis and Therapy · 18

Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment

2020 · Sara Cabet, Gaetan Lesca, et al. · European Journal of Medical Genetics · 18

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Description of a novel patient with the TRPM3 recurrent p.Val837Met variant

2021 · Lucas W Gauthier, Nicolas Chatron, et al. · European Journal of Medical Genetics · 17

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Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case‐series

2022 · Léo Pomar, José Ochoa, et al. · Prenatal Diagnosis · 14

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Percutaneous Sclerotherapy of Large Venous Malformations Using Consecutive Polidocanol and Bleomycin Foam: MR Imaging Volumetric and Quality-of-Life Assessment

2023 · Antoine Fraissenon, Francis Fortin, et al. · Journal of Vascular and Interventional Radiology · 13

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

2025 · Stephanie Efthymiou, Cailyn P. Leo, et al. · The American Journal of Human Genetics · 11

Clinical features and genotype–phenotype correlations in epilepsy patients with de novo DYNC1H1 variants

2024 · Claudia Cuccurullo, Emanuele Cerulli Irelli, et al. · Epilepsia · 10

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Prenatal imaging features related to RAC3 pathogenic variant and differential diagnoses

2022 · Sara Cabet, Alexandre Vasiljevic, et al. · Prenatal Diagnosis · 10

RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures

2024 · Mariagrazia Talarico, Julitta de Bellescize, et al. · Genetics in Medicine · 9

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Identification of a novel translocation producing an in-frame fusion of TAF15 and ETV4 in a case of extraosseous Ewing sarcoma revealed in the prenatal period

2022 · Cécile Picard, Nicolas Macagno, et al. · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · 9

Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy

2019 · Sara Cabet, Audrey Putoux, et al. · Prenatal Diagnosis · 9

Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy

2024 · Angela Clara-Hwang, Stefani Stefani, et al. · Neurology Genetics · 8

Predicting Outcome of Congenital Cytomegalovirus Infection by Differentiating and Revisiting Severe versus Mild Prenatal Imaging Features

2023 · Mona Massoud, Maude Chollet, et al. · Fetal Diagnosis and Therapy · 8

Prenatal imaging diagnosis of PIK3CA ‐related overgrowth spectrum disorders in first trimester with emphasis on extremities

2019 · A. Fraissenon, S. Cabet, et al. · Ultrasound in Obstetrics and Gynecology · 8

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A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset

2019 · Sara Cabet, Audrey Putoux, et al. · European Journal of Medical Genetics · 8

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Intermittent Bi-Daily Sub-cutaneous Teriparatide Administration in Children With Hypoparathyroidism: A Single-Center Experience

2021 · Julie Bernardor, Sacha Flammier, et al. · Frontiers in Pediatrics · 7

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Septic Arthritis of Facet Joint in Children

2020 · Sara Cabet, Kevin Perge, et al. · The Pediatric Infectious Disease Journal · 7

Prenatal imaging patterns of different forms of infantile myofibromatosis

2020 · A. Fraissenon, G. Benchimol, et al. · Ultrasound in Obstetrics and Gynecology · 6

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B‐cell immune deficiency in twin sisters expands the phenotype of MOPDI

2024 · Lucas W. Gauthier, Morgane Gossez, et al. · Clinical Genetics · 5

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Pediatric urolithiasis: what can pediatricians expect from radiologists?

2022 · Julie Bernardor, Valeska Bidault, et al. · Pediatric Radiology · 5

New insights in craniovertebral junction MR changes leading to stenosis in children with achondroplasia

2022 · Sara Cabet, Alexandru Szathmari, et al. · Child s Nervous System · 5

Works count: 119

Citation count: 448

H-index: 10

I10-index: 12