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authFullName_s : Frédéric Huet

Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis

Ange-Line Bruel , Alice Masurel-Paulet , Jean-Baptiste Rivière , Yannis Duffourd , Frédéric Huet et al.
Clinical Genetics, 2016, ⟨10.1111/cge.12794⟩
Article dans une revue hal-01405113v1

Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability

Alexandra Gauthier-Vasserot , Christel Thauvin-Robinet , Ange-Line Bruel , Yannis Duffourd , Judith Saint-Onge et al.
American Journal of Medical Genetics Part A, 2016, ⟨10.1002/ajmg.a.37969⟩
Article dans une revue hal-01410416v1

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

Martin Chevarin , Yannis Duffourd , Rebecca a Barnard , Sébastien Moutton , François Lecoquierre et al.
Journal of Medical Genetics, 2020, 57 (7), pp.466-474. ⟨10.1136/jmedgenet-2019-106425⟩
Article dans une revue hal-03619568v1
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Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation

Nawale Hadouiri , Veronique Darmency , Laurent Guibaud , Alexis Arzimanoglou , Arthur Sorlin et al.
European Journal of Medical Genetics, 2020, 63, pp.104036 -. ⟨10.1016/j.ejmg.2020.104036⟩
Article dans une revue hal-03491487v1

Pathology of Rotavirus-driven Multiple Organ Failure in a 16-month-old Boy

Georges Tarris , Gaël Belliot , Patrick Callier , Frédéric Huet , Laurent Martin et al.
Pediatric Infectious Disease Journal, 2019, 38 (12), pp.e326-e328. ⟨10.1097/INF.0000000000002472⟩
Article dans une revue hal-02380000v1

A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome

Paul Masurel-Paulet , Amélie Piton , Sophie Chancenotte , Claire Redin , Christel Thauvin-Robinet et al.
American Journal of Medical Genetics Part A, 2016, 170 (8), pp.2103 - 2110. ⟨10.1002/ajmg.a.37765⟩
Article dans une revue istex hal-01680171v1
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Delineation of the 3p14.1p13 Microdeletion Associated With Syndromic Distal Limb Contractures

Julien Thevenon , Nicole Monnier , Patrick Callier , Klaus Dieterich , Michel Francoise et al.
American Journal of Medical Genetics Part A, 2014, pp.3027-34. ⟨10.1002/ajmg.a.36751⟩
Article dans une revue istex inserm-01120832v1

Partly Fermented Infant Formulae With Specific Oligosaccharides Support Adequate Infant Growth and Are Well-Tolerated

Frédéric Huet , Marieke Abrahamse-Berkeveld , Sebastian Tims , Umberto Siméoni , Gérard Beley et al.
Journal of Pediatric Gastroenterology and Nutrition, 2016, 63 (4), pp.e43 - e53. ⟨10.1097/MPG.0000000000001360⟩
Article dans une revue hal-01593717v1

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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Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

Julien Thévenon , Mathieu Milh , François Feillet , Judith St-Onge , Yannis Duffourd et al.
American Journal of Human Genetics, 2014, 95 (1), pp.113 - 120. ⟨10.1016/j.ajhg.2014.06.006⟩
Article dans une revue hal-01668025v1
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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

Toward the Standardization of Mycological Examination of Sputum Samples in Cystic Fibrosis : Results from a French Multicenter Prospective Study

Noémie Coron , Marc Pihet , Emilie Fréalle , Yolande Lemeille , Claudine Pinel et al.
Mycopathologia, 2018, 183 (1), pp.101-117. ⟨10.1007/s11046-017-0173-1⟩
Article dans une revue hal-01618715v1

Epidemiological and clinical features of hMPV, RSV and RVs infections in young children.

Catherine Manoha , Sophie Espinosa , Serge-Ludwig Aho , Frédéric Huet , Pierre Pothier et al.
Journal of Clinical Virology, 2007, 38 (3), pp.221-6. ⟨10.1016/j.jcv.2006.12.005⟩
Article dans une revue istex hal-00465382v1

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
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Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management

Magali Avila , David A. Dyment , Jørn V. Sagen , Judith St-Onge , Ute Moog et al.
Clinical Genetics, 2016, 89 (4), pp.501-506. ⟨10.1111/cge.12688⟩
Article dans une revue hal-01225503v1

Clinical and molecular spectrum of renal malformations in Kabuki syndrome

Jean-Benoît Courcet , Laurence Faivre , Caroline Michot , Antoine Burguet , Stéphanie Perez-Martin et al.
The Journal of Pediatrics, 2013, 163 (3), pp.742--746. ⟨10.1016/j.jpeds.2013.02.032⟩
Article dans une revue hal-01064380v1

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

Julien Thevenon , Céline Souchay , Gail K Seabold , Inna Dygai-Cochet , Patrick Callier et al.
European Journal of Human Genetics, 2016, 24 (6), pp.911 - 918. ⟨10.1038/ejhg.2015.221⟩
Article dans une revue hal-01405814v1

Diversity of the clinical presentation of the MMR gene biallelic mutations

Gaëlle Bougeard , Laurence Olivier-Faivre , Stéphanie Baert-Desurmont , Julie Tinat , Cosette Martin et al.
Familial Cancer, 2014, 13 (1), pp.131-135. ⟨10.1007/s10689-013-9676-1⟩
Article dans une revue hal-03106912v1

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

Laurence Faivre , Amélie Piton , Helene Poquet, , Paul Kuentz , Julien Thevenon et al.
European Journal of Human Genetics, 2017, 25 (4), pp.423-431. ⟨10.1038/ejhg.2016.204⟩
Article dans une revue hal-01560313v1
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Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations.

Laurence Faivre , Alice Masurel-Paulet , Gwenaëlle Collod-Béroud , Bert L. Callewaert , Anne H. Child et al.
Pediatrics, 2009, 123 (1), pp.391-8. ⟨10.1542/peds.2008-0703⟩
Article dans une revue inserm-00396263v1

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

Sophie Nambot , Alice Masurel , Salima El Chehadeh , Anne-Laure Mosca-Boidron , Christel Thauvin-Robinet et al.
European Journal of Human Genetics, 2016, 24 (6), pp.830 - 837. ⟨10.1038/ejhg.2015.202⟩
Article dans une revue hal-01400905v1

Randomised controlled trial demonstrates that fermented infant formula with short-chain galacto-oligosaccharides and long-chain fructo-oligosaccharides reduces the incidence of infantile colic

Yvan Vandenplas , Thomas Ludwig , Hetty Bouritius , Philippe Alliet , Derek Forde et al.
Acta Paediatrica, 2017, 106 (7), pp.1150 - 1158. ⟨10.1111/apa.13844⟩
Article dans une revue hal-01609090v1

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome

Laurence Faivre , Philippe Khau van Kien , Patrick Callier , Nathalie Ruiz-Pallares , Corinne Baudoin et al.
European Journal of Medical Genetics, 2010, 53 (4), pp.208-212. ⟨10.1016/j.ejmg.2010.05.002⟩
Article dans une revue hal-02446647v1

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

Clothilde Esteve , Ludmila Francescatto , Perciliz Tan , Aurélie Bourchany , Cécile de Leusse et al.
American Journal of Human Genetics, 2018, 102 (3), pp.364 - 374. ⟨10.1016/j.ajhg.2018.01.009⟩
Article dans une revue hal-01721495v1
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Expanding the Phenotype Associated with NAA10 Related N-terminal Acetylation Deficiency

Chloé Saunier , Svein Isungset Støve , Bernt Popp , Bénédicte Gérard , Marina Blenski et al.
Human Mutation, 2016, ⟨10.1002/humu.23001⟩
Article dans une revue hal-01314294v1
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Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome

Pierre-Henri Roux-Levy , Marie Bournez , Alice Masurel , Nolwenn Jean , Sophie Chancenotte et al.
European Journal of Medical Genetics, 2020, 63 (12), pp.104064. ⟨10.1016/j.ejmg.2020.104064⟩
Article dans une revue hal-03338019v1

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

Aurélie Bourchany , Christel Thauvin-Robinet , Daphne Lehalle , Ange-Line Bruel , Paul Masurel-Paulet et al.
European Journal of Medical Genetics, 2017, 60 (11), pp.595 - 604. ⟨10.1016/j.ejmg.2017.08.011⟩
Article dans une revue hal-01626052v1

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

Christel Thauvin-Robinet , Anne Munck , Frédéric Huet , Alix de Becdelièvre , Clément Jimenez et al.
Journal of Medical Genetics, 2013, 50 (4), pp.220-227. ⟨10.1136/jmedgenet-2012-101427⟩
Article dans une revue istex hal-02446166v1