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authFullName_s : S. Odent

Isolated familial choanal atresia: a new entity in the phenotypic spectrum of KMT2D gene

A. Garde , F. Tran Mau-Them , S. Nambot , M. Fradin , S. Odent et al.
European Journal of Human Genetics, 2020, 28 (SUPPL 1), pp.455-455
Journal articles hal-03131652v1

Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis

F. Démurger , L. Pasquier , C. Dubourg , V. Dupé , I. Gicquel et al.
Molecular Syndromology, 2013, 4 (6), pp.267--272. ⟨10.1159/000353878⟩
Journal articles hal-01064054v1

Prenatal diagnosis of isolated Congenital Heart Defects: results of a prospective study genome-wide high resolution array-CGH versus karyotyping and 22q11 FISH

L. Pasquier , F. Roblot , E. Launay , M. Fradin , C. Quelin et al.
European Journal of Human Genetics, 2019, 27, pp.1815-1816
Journal articles hal-02355981v1

Mutation-specific pathophysiological mechanisms in a new SATB1-associated neurodevelopmental disorder

J. den Hoed , E. de Boer , N. Voisin , N. Guex , L. Snijders Blok et al.
European Journal of Human Genetics, 2020, 28 (SUPPL 1), pp.32-33
Journal articles hal-03131485v1

Intellectual functioning of adults with Silver-Russell syndrome due to IGF2/H19 hypomethylation in the 11p15 region

M. Burgevin , A. Lacroix , G. Brown , M. Mikaty , A. Toutain et al.
European Journal of Human Genetics, 2020, 28 (SUPPL 1), pp.795-796
Journal articles hal-03131672v1

Prospective interest in deploying multi-omics approaches to solve unsolved patients with suspected monogenic developmental delay syndromes

Y. Duffourd , E. Tisserant , A. Plagos , P. Callier , F. Mau Tran-Them et al.
European Journal of Human Genetics, 2019, 27, pp.1700-1701
Journal articles hal-02355733v1
Image document

Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples

L. Mary , M. Fradin , L. Pasquier , C. Quélin , P. Loget et al.
European Journal of Medical Genetics, 2023, 66 (6), pp.104748. ⟨10.1016/j.ejmg.2023.104748⟩
Journal articles hal-04066527v1

A new case of Kaufman Oculocerebrofacial Syndrome caused by two new splicing variants in UBE3B.

K. Uguen , C. Ka , M. Planes , S. Audebert-Bellanger , S. Redon et al.
European Journal of Human Genetics, 2020, 28 (SUPPL 1), pp.366-367
Journal articles hal-03131644v1

Recessive inheritance of DISP1 variants in holoprosencephaly spectrum patients

A. Lavillaureix , C. Dubourg , C. Quelin , B. Keren , S. Whalen et al.
European Journal of Human Genetics, 2020, 28 (SUPPL 1), pp.912-912
Journal articles hal-03131723v1

Fetal costello syndrome with neuromuscular spindle excess and p.Gly12Val HRAS mutation

C. Quélin , P. Loget , C. Rozel , D. d'Hervé , M. Fradin et al.
European Journal of Medical Genetics, 2017, 60 (7), pp.395--398. ⟨10.1016/j.ejmg.2017.03.014⟩
Journal articles hal-01721406v1
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Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

P. Callier , B. Aral , N. Hanna , S. Lambert , H. Dindy et al.
Clinical Genetics, 2013, 84 (6), pp.507--521. ⟨10.1111/cge.12094⟩
Journal articles hal-01068032v1

Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene

C. Coutton , B. Poreau , F. Devillard , C. Durand , S. Odent et al.
Molecular Syndromology, 2014, 5 (1), pp.25--31. ⟨10.1159/000355391⟩
Journal articles hal-01064850v1

Loss-of-function mutation of TRIP4 causes a novel form of congenital muscle disease and reveals the transcription coactivator ASC-1 as a new regulator of skeletal myogenesis

L. Davignon , C. Chauveau , C. Julien , C. Dill , L. Duband-Goulet et al.
Neuromuscular Disorders, 2016, 26 (suppl 2), pp.S118--S119. ⟨10.1016/j.nmd.2016.06.121⟩
Journal articles hal-01415936v1

DISSEQ: Double-blind Next-Generation-Sequencing technologies (exome and gene panel) in the diagnosis of a cohort of 330 patients with an intellectual disability: concordance, discrepancies, and efficiencies.

A. Bruel , B. Gerard , A. Piton , F. Tran Mau-Them , A. Sorlin et al.
European Journal of Human Genetics, 2020, 28 (SUPPL 1), pp.333-334. ⟨10.1038/s41431-020-00739-z⟩
Journal articles hal-03131626v1

Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly

A.‐l. Bruel , J. Thevenon , F. Huet , N. Jean‐marcais , S. Odent et al.
Other publications hal-01737178v1

Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions

C. Dubourg , Frédérique Bonnet-Brilhault , A. Toutain , C. Mignot , A. Jacquette et al.
Molecular Syndromology, 2014, 5 (2), pp.57--64. ⟨10.1159/000357359⟩
Journal articles hal-01063973v1

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

M. Lefebvre , A. L. Bruel , E. Tisserant , N. Bourgon , Y. Duffourd et al.
Journal of Medical Genetics, 2021, 58 (6), pp.400-413. ⟨10.1136/jmedgenet-2020-106867⟩
Journal articles inserm-03231676v1

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

M.J. Nabais Sá , P.J. Jensik , S.R. Mcgee , M.J. Parker , N. Lahiri et al.
Genetics in Medicine, 2019, 21 (9), pp.2059-2069. ⟨10.1038/s41436-019-0473-6⟩
Journal articles hal-02132596v1

Deep intronic KRIT1 mutation in a family with clinically silent multiple cerebral cavernous malformations

F. Riant , S. Odent , M. Cecillon , L. Pasquier , C. De Baracé et al.
Clinical Genetics, 2013, 86 (6), pp.585-588. ⟨10.1111/cge.12322⟩
Journal articles istex hal-01064875v1

Integrated genome and transcriptome analyses solves about one third of the patients with rare developmental disorders and negative first-line molecular investigations

A. Vitobello , F. Tran Mau-Them , A. L. Bruel , Y. Duffourd , E. Tisserant et al.
53rd European Society of Human Genetics (ESHG) Conference, Jun 2020, Vienna, Austria. pp.65-66, ⟨10.1038/s41431-020-00740-6⟩
Conference papers hal-03131511v1

Suivi gynécologique des patientes atteintes d’un spina bifida

D. Body-Bechou , A. -S. Cabaret-Dufour , L. Siproudhis , I. Berkelmans , A. Manunta et al.
Gynécologie Obstétrique & Fertilité, 2015, 43 (7-8), pp.522-527. ⟨10.1016/j.gyobfe.2015.05.002⟩
Journal articles hal-01169795v1
Image document

Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility

Sylvie Jaillard , R. Sreenivasan , M. Beaumont , G. Robevska , C. Dubourg et al.
Maturitas, 2020, 131, pp.78-86. ⟨10.1016/j.maturitas.2019.10.011⟩
Journal articles hal-02399813v1

Gene dosage effects in 46, XY DSD: usefulness of CGH technologies for diagnosis

S. Jaillard , A. Bashamboo , L. Pasquier , M. A. Belaud-Rotureau , Ken Mcelreavey et al.
Journal of Assisted Reproduction and Genetics, 2015, 32 (2), pp.287-291. ⟨10.1007/s10815-014-0383-0⟩
Journal articles hal-01116587v1

Fetal phenotypes in otopalatodigital spectrum disorders

S. Naudion , S. Moutton , I. Coupry , G. Sole , J. Deforges et al.
Clinical Genetics, 2016, 89 (3), pp.371-377. ⟨10.1111/cge.12679⟩
Journal articles istex hal-01214017v1