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Anne‐Sophie Jourdain

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia
2012 · Christopher T Gordon, Florence Petit, et al. · Journal of Medical Genetics · 97
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause
2013 · F. Petit, F. Escande, et al. · Clinical Genetics · 74
Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1
2017 · Jamal Ghoumid, Morgane Stichelbout, et al. · Genetics in Medicine · 71
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Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity
2015 · Jamal Ghoumid, Florence Petit, et al. · European Journal of Human Genetics · 63
Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants
2018 · Clémence Vanlerberghe, Anne-Sophie Jourdain, et al. · European Journal of Human Genetics · 61
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Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity
2021 · Endika Haro, Florence Petit, et al. · Nature Communications · 33
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TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A
2020 · Simon Boussion, Fabienne Escande, et al. · Human Mutation · 32
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The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis
2015 · Florence Petit, Anne-Sophie Jourdain, et al. · European Journal of Human Genetics · 27
Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations
2019 · Anne‐Sophie Jourdain, Florence Petit, et al. · Human Mutation · 26
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Split hand/foot malformation with long‐bone deficiency and BHLHA9 duplication: report of 13 new families
2013 · F. Petit, A.‐S. Jourdain, et al. · Clinical Genetics · 26
Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation Methods
2019 · Lucie Coppin, Pascal Plouvier, et al. · Journal of Molecular Diagnostics · 25
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Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling
2022 · William Dufour, Salem Alawbathani, et al. · Genetics in Medicine · 14
Small patella syndrome: New clinical and molecular insights into a consistent phenotype
2017 · C. Vanlerberghe, A.‐S. Jourdain, et al. · Clinical Genetics · 12
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects
2023 · Florence Petit, Mauro Longoni, et al. · The American Journal of Human Genetics · 11
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Intrafamilial variability of ZRS ‐associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing
2014 · C. Vanlerberghe, L. Faivre, et al. · Clinical Genetics · 11
Identification of a novel CFAP61 homozygous splicing variant associated with multiple morphological abnormalities of the flagella
2024 · Anne-Laure Barbotin, Angèle Boursier, et al. · Journal of Assisted Reproduction and Genetics · 10
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Recurrent “outsider” intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb
2024 · Lamisse Mansour-Hendili, Cyril Gitiaux, et al. · Frontiers in Genetics · 8
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WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature
2019 · Perrine Brunelle, Anne‐Sophie Jourdain, et al. · American Journal of Medical Genetics Part A · 5
Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up
2026 · Perrine Brunelle, Anne-Sophie Jourdain, et al. · European Journal of Human Genetics · 3
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RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront
2024 · Clémence Vanlerberghe, Frédéric Frénois, et al. · Genetics in Medicine · 2
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Resolving non‑coding splice‑altering variants using an integrative genomic and transcriptomic workflow: application to FOXP1
2026 · Pauline Planté-Bordeneuve, Anne-Sophie Jourdain, et al. · Human Genomics · 1
Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome
2024 · Clémence Vanlerberghe, Anne Sophie Jourdain, et al. · Genetics in Medicine · 1
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EP13.029 RPL26 variants: a rare cause of Diamond-Blackfan Anemia Syndrome with multiple congenital anomalies at the forefront
2024 · Vanlerberghe, Clémence, Frénois, Frédéric, et al. · HAL (Le Centre pour la Communication Scientifique Directe)
Molecular determinism of limb development : contribution of new technologies for genome study
2019 · Jourdain, Anne-Sophie · theses.fr (ABES)
Déterminisme moléculaire du développement des membres : apport des nouvelles technologies d’étude du génome
2019 · Anne-Sophie Jourdain
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Works count: 26
Citation count: 613
H-index: 12
I10-index: 16
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