<i>EFTUD2</i> haploinsufficiency leads to syndromic oesophageal atresia

Christopher T. Gordon, Florence Petit, Myriam Oufadem, +28

Journal of Medical Genetics

Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1

Jamal Ghoumid, Morgane Stichelbout, Anne‐Sophie Jourdain, +14

Genetics in Medicine

Blepharocheilodontic SyndromePathologyMolecular MedicineMedicineNeurogenetics

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

Clémence Vanlerberghe, Anne‐Sophie Jourdain, Jamal Ghoumid, +11

European Journal of Human Genetics

Translational MedicinePathologyTbx5 VariantsMolecular DescriptionHolt-oram Syndrome +3

Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity

Jamal Ghoumid, Florence Petit, Muriel Holder‐Espinasse, +7

European Journal of Human Genetics

Genetic TestingMendelian DisorderGenetic DisorderMedicineGenetics +11

Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity

Endika Haro, Florence Petit, Charmaine U. Pira, +13

Nature Communications

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of <i>RBM8A</i>

Simon Boussion, Fabienne Escande, Anne‐Sophie Jourdain, +24

Human Mutation

EngineeringGeneticsGenetic EpidemiologyPathologyTar Syndrome +16

The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis

Florence Petit, Anne‐Sophie Jourdain, Muriel Holder‐Espinasse, +6

European Journal of Human Genetics

Transcriptional RegulationDevelopmental BiologyDevelopmental GeneticsGeneticsMedicine +5

Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations

Anne‐Sophie Jourdain, Florence Petit, Marie‐Françoise Odou, +19

Human Mutation

GeneticsGenetic EpidemiologyHigh ThroughputPathologyDisease Gene Identification +18

Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation Methods

Lucie Coppin, Pascal Plouvier, Michel Crépin, +7

Journal of Molecular Diagnostics

BioinformaticsDna SequencingFunctional GenomicsMedicineGenetics +13

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling

William Dufour, Salem Alawbathani, Anne‐Sophie Jourdain, +22

Genetics in Medicine

Altered Wnt SignalingTranscriptional RegulationDevelopmental BiologyMendelian DisorderBiallelic Variants +7