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Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

Marguerite Miguet , Laurence Faivre , Jeanne Amiel , Mathilde Nizon , Renaud Touraine et al.
Journal of Medical Genetics, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩
Article dans une revue hal-02064139v1

Severe X-linked chondrodysplasia punctata in nine new female fetuses

Mathilde Lefebvre , Fabienne Dufernez , Ange-Line Bruel , Marie Gonzales , Bernard Aral et al.
Prenatal Diagnosis, 2015, 35 (7), pp.675-684. ⟨10.1002/pd.4591⟩
Article dans une revue istex hal-01376847v1

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test

Julien Thevenon , Yannis Duffourd , Alice Masurel-Paulet , M. . Lefebvre , François Feillet et al.
Clinical Genetics, 2016, 89 (6), pp.700 - 707. ⟨10.1111/cge.12732⟩
Article dans une revue hal-01405124v1
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Type A competitiveness traits correlate with downregulation of c-Fos expression in patients with type 1 diabetes

J.-C. Chauvet-Gélinier , A.-L. Mosca-Boidron , C. Lemogne , S. Ragot , N. Forestier et al.
Journal of Diabetes & Metabolism, In press, ⟨10.1016/j.diabet.2018.11.005⟩
Article dans une revue hal-01953572v1
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In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Virginie Carmignac , Julie Thevenon , Lesley Ades , Bert Callewaert , Sophie Julia et al.
American Journal of Human Genetics, 2012, 91 (5), pp.950 - 957. ⟨10.1016/j.ajhg.2012.10.002⟩
Article dans une revue hal-01670135v1

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Lucilla Pizzo , Matthew Jensen , Andrew Polyak , Jill Rosenfeld , Katrin Männik et al.
Genetics in Medicine, In press, ⟨10.1038/s41436-018-0266-3⟩
Article dans une revue hal-02059381v1

Germline JAK2 L611S mutation in a child with thrombocytosis

Bernard Aral , Martine Courtois , Sylviane Ragot , Valentin Bourgeois , Elodie Bottollier-Lemallaz et al.
Haematologica, 2018, 103, pp.e372-e373. ⟨10.3324/haematol.2018.188995⟩
Article dans une revue hal-01761978v1

Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.

Estelle Lopez , Patrick Callier , Valérie Cormier-Daire , Didier Lacombe , Anne Moncla et al.
American Journal of Medical Genetics Part A, 2012, 158A (2), pp.333-9. ⟨10.1002/ajmg.a.34401⟩
Article dans une revue istex inserm-00662892v1

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

J. Piard , B. Aral , P. Vabres , M. Holder-Espinasse , André Mégarbané et al.
Clinical Genetics, 2015, 87 (3), pp.244-251. ⟨10.1111/cge.12361⟩
Article dans une revue istex hal-02279939v1
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Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients

Simon Verdez , Quentin Thomas , Philippine Garret , Céline Verstuyft , Emilie Tisserant et al.
Pharmacogenomics Journal, 2022, Online ahead of print. ⟨10.1038/s41397-022-00280-w⟩
Article dans une revue inserm-03694953v1

Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

Ange-Line Bruel , Brunella Franco , Yannis Duffourd , Julien Thévenon , Laurence Jego et al.
Journal of Medical Genetics, 2017, 54 (6), pp.371 - 380. ⟨10.1136/jmedgenet-2016-104436⟩
Article dans une revue hal-01789377v1

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

Salima El Chehadeh , R. Touraine , F. Prieur , W. Reardon , T. Bienvenu et al.
Clinical Genetics, 2016, 91 (4), pp.576-588. ⟨10.1111/cge.12898⟩
Article dans une revue hal-01452730v1

15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia

Minh-Tuan Huynh , Anne-Sophie Lambert , Lucie Tosca , François Petit , Christophe Philippe et al.
European Journal of Medical Genetics, 2018, 61 (8), pp.459 - 464. ⟨10.1016/j.ejmg.2018.03.005⟩
Article dans une revue hal-01882481v1

High HFE mutation incidence in idiopathic erythrocytosis

Bénédicte Burlet , Valentin Bourgeois , Céline Buriller , Bernard Aral , Fabrice Airaud et al.
British Journal of Haematology, In press, ⟨10.1111/bjh.15631⟩
Article dans une revue hal-01919082v1
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Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

Frédéric Tran Mau-Them , Julian Delanne , Anne-Sophie Denommé-Pichon , Hana Safraou , Ange-Line Bruel et al.
Frontiers in Genetics, 2023, 14, pp.1099995. ⟨10.3389/fgene.2023.1099995⟩
Article dans une revue hal-04081633v1