Pr HUET Frédéric

Fiche personne

Coordonnées

Hôpital François Mitterrand
14 rue Paul Gaffarel
BP 77908
21079 DIJON Cedex
FRANCE

03 80 29 34 14

Territoire

Bourgogne

Statut

Hospitalo-Universitaire

Affiliation

Centre hospitalier universitaire de Dijon (CHU Dijon)

Inserm UMR 1231 "Centre de recherche translationnelle en médecine moléculaire (CTM)" (Inserm UMR1231 CTM)

Université Bourgogne Europe (UBE)

Équipes/plateformes

UMR 1231 - Equipe "Génétique des anomalies du développement (GAD)"

Publications

Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.

Faivre L, Level C, Coutant R, Rodien P, Barlier A, Saveanu A, Bouvattier C, Bretones P, Martinerie L, Rossignol S, Lenelle C, Roucher F, Binquet C, Pasquier L, Davoine E, Cormier C, Bournez M, Maudinas R, Gonnot M, Lefevre A, Maraval J, Safraou H, Duffourd Y, Bellanné-Chantelot C, Saint-Martin C, Bergougnoux A, Mallet D, Bouligand J, de Roux N, Coppin L, Diene G, Poitoux C, Prunier D, Dieu X, Burnichon N, Christin-Maitre S, Jaillard S, Launay E, Rabès JP, Benlian P, Filippo MD, Marmontel O, Bernert CP, Vigouroux C, Bismuth E, Beltrand J, Polak M, Giraud S, Pigny P, Savagner F, Petit IO, Arnoux JB, Beliard S, Odou MF, Romanet P, Molin A, Apetrei A, Richard N, Pacot L, Pasmant E, Hureaux M, Vargas R, Gay-Bellile M, Aouchiche K, Carrié A, Chauvet M, Gallo A, Lemale J, Moulin P, Peretti N, Thauvin-Robinet C, Huet F, Tardy-Guidolet V

Ann Endocrinol (Paris). 2026 03 19;:102517

PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in Franc

Level C, Thauvin-Robinet C, Binquet C, Duffourd Y, Davoine E, Chevarin M, Tran-Mau-Them F, Lemaitre M, Bruel AL, Safraou H, Salvi D, Tisserant E, Lecommandeur E, Charreton A, Hassine A, de Tayrac M, Redon R, Barc J, Schmitt S, Piard J, Kuentz P, Cormier C, Malbos M, Racine C, Chabrol B, Cheillan D, Tardy V, Colin E, Bris C, Mercier S, Nizon M, Gaudillat L, Loizeau V, Lenelle C, Mottet N, Simon E, Arnoux JB, Carpentier M, Renaud C, Ziegler A, Lejeune C, Jannot AS, Asensio ML, Rollier P, Odent S, Bezieau S, Pasquier L, Huet F, Faivre L

BMJ Open. 2025 10 23;15(10):e105752

Impact of elexacaftor/tezacaftor/ivacaftor on glucose tolerance in adolescents with cystic fibrosis.

Galderisi A, Weiss L, Besançon A, Stremler N, Reix P, Wizla N, Lustre A, Rames C, Tatopoulos A, Perisson C, Dalphin ML, Troussier F, Houdouin V, Bessaci K, Cosson L, Gabsi A, Corvol H, Deneuville E, Storni V, Ramel S, Bui S, Heraud MC, Remus N, Huet F, Scalbert M, Mely L, Gachelin E, Giannantonio M, Letierce A, Sahki D, Marguet C, Bonnel AS, Sermet-Gaudelus I,

J Clin Endocrinol Metab. 2025 02 20;:

Subcutaneous anakinra in the management of refractory MIS-C in France.

Dusser P, Belot A, Bajolle F, Kevorkian-Verguet C, Meinzer U, Huet F, Tiriau S, Kone-Paut I

Front Pediatr. 2024 02 23;12:1270878

Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.

Malbos M, Wakeling E, Gautier T, Boespflug-Tanguy O, Busby L, Taylor-Miller T, Dudoignon B, Bokov P, Govin J, Grisval M, Rega A, Mourot De Rougemont MG, Aubriot-Lorton MH, Darmency V, Bensignor C, Houzel A, Huet F, Denommé-Pichon AS, Delanne J, Tran Mau-Them F, Bruel AL, Safraou H, Nambot S, Garde A, Philippe C, Duffourd Y, Vitobello A, Faivre L, Thauvin-Robinet C

Clin Genet. 2024 01 29;:

CHILDREN HOSPITALIZED WITH RESPIRATORY SYNCYTIAL VIRUS INFECTION: A PRE VERSUS LATE COVID-19 PANDEMIC COMPARISON.

Solus A, Huet F, Perez-Martin S, Verney C, Auvray C, Binquet C, Piroth L, Blot M

Pediatr Infect Dis J. 2023 12 14;:

Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: a French real-life observational study.

Tardieu M, Cudejko C, Cano A, Hoebeke C, Bernoux D, Goetz V, Pichard S, Brassier A, Schiff M, Feillet F, Rollier P, Mention K, Dobbelaere D, Fouilhoux A, Espil-Taris C, Eyer D, Huet F, Walther-Louvier U, Barth M, Chevret L, Kuster A, Lefranc J, Neveu J, Pitelet G, Ropars J, Rivier F, Roubertie A, Touati G, Vanhulle C, Tardieu E, Caillaud C, Froissart R, Champeaux M, Labarthe F, Chabrol B

Eur J Neurol. 2023 05 26;:

A French study of cocaine intoxication/exposure in children (2010-2020).

Claudet I, Caula C, Gallart JC, Tourniaire G, Lerouge-Bailhache M, Michard-Lenoir AP, Tran A, Maleterre A, Huet F, Dufour D, Billaud N, David A, Di Patrizio M, Granjon M, Benoist G, Laguille C, Guitteny MA, Balençon M, Vrignaud B, Basmaci R, Dampfhoffer M, Dubos F, Chappuy H, Minodier P, Médiamolle N, Bréhin C

Clin Toxicol (Phila). 2023 05 15;:1-9

Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France.

Bonnet E, Winter M, Mallet D, Plotton I, Bouvattier C, Cartigny M, Martinerie L, Polak M, Bachelot A, Huet F, Baron S, Houang M, Sylvie S, Lienhardt A, Bertherat J, Amouroux C, Bouty A, Duranteau L, Besson R, El Ghoneimi A, Samara-Boustani D, Becmeur F, Kalfa N, Paris F, Medjkane F, Brac de la Perrière A, Bretones P, Lejeune H, Nicolino M, Mouriquand P, Gorduza DB, Gay CL

Endocr Connect. 2023 01 1;:

Hepatitis-Associated Aplastic Anemia.

Gonnot M, Neumann F, Huet F, Maudinas R, Leblanc T, Lacaille F

J Pediatr Gastroenterol Nutr. 2022 09 6;:

Neonatal screening for congenital hypothyroidism: Time to lower the TSH threshold in France.

Levaillant L, Huet F, Bretones P, Corne C, Dupuis C, Reynaud R, Somma C, Barat P, Corcuff JB, Bouhours-Nouet N, Gauthereau V, Polak M, Leger J, Cheillan D, Coutant R

Arch Pediatr. 2022 Mar 26;:

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.

Delanne J, Bruel AL, Huet F, Moutton S, Nambot S, Grisval M, Houcinat N, Kuentz P, Sorlin A, Callier P, Jean-Marcais N, Mosca-Boidron AL, Mau-Them FT, Denommé-Pichon AS, Vitobello A, Lehalle D, El Chehadeh S, Francannet C, Lebrun M, Lambert L, Jacquemont ML, Gerard-Blanluet M, Alessandri JL, Willems M, Thevenon J, Chouchane M, Darmency V, Fatus-Fauconnier C, Gay S, Bournez M, Masurel A, Leguy V, Duffourd Y, Philippe C, Feillet F, Faivre L, Thauvin-Robinet C

Mol Genet Metab Rep. 2021 Dec;29:100812

Studying Clinical, Biologic and Echocardiography Criteria to Predict a Resistant Kawasaki Disease in Children.

Robert AC, Parmentier AL, Schulze O, Verney C, Huet F, Thiriez G, Anxionnat R

Pediatr Infect Dis J. 2021 Aug 1;40(8):710-714

[Newborn screening for cystic fibrosis in France].

Munck A, Cheillan D, Audrezet MP, Guenet D, Huet F

Med Sci (Paris). 2021 May;37(5):491-499

Chest physiotherapy enhances detection of in nonexpectorating children with cystic fibrosis.

Marguet C, Houdouin V, Pin I, Reix P, Huet F, Mittaine M, Ramel S, Wizla-Derambure N, Abely M, Dalphin ML, Fayon M, Bihouée T, Le Bourgeois M, Deneuville E, Corvol H, Laurans M, Couderc L, Leroux E, Lémée L

ERJ Open Res. 2021 Jan;7(1):

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome.

Roux-Levy PH, Bournez M, Masurel A, Jean N, Chancenotte S, Bordes M, Debomy F, Minot D, Schmitt E, Vinault S, Gautier E, Lacombe D, Odent S, Mikaty M, Manouvrier S, Ghoumid J, Geneviève D, Lehman N, Philip N, Edery P, Cornaton J, Gallard J, Héron D, Rastel C, Huet F, Thauvin-Robinet C, Verloes A, Binquet C, Tauber M, Lejeune C, Faivre L

Eur J Med Genet. 2020 Sep 27;:104064

CHANGES IN REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION-POSITIVE SEVERE ACUTE RESPIRATORY SYNDROME CORONAVIRUS 2 RATES IN ADULTS AND CHILDREN ACCORDING TO THE EPIDEMIC STAGES.

Levy C, Basmaci R, Bensaid P, Bru CB, Coinde E, Dessioux E, Fournial C, Gashignard J, Haas H, Hentgen V, Huet F, Lalande M, Martinot A, Pons C, Romain AS, Ursulescu N, Le Sage FV, Raymond J, Béchet S, Toubiana J, Cohen R

Pediatr. Infect. Dis. J.. 2020 Aug 28;:

Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation.

Hadouiri N, Darmency V, Guibaud L, Arzimanoglou A, Sorlin A, Carmignac V, Rivière JB, Huet F, Luu M, Bardou M, Thauvin-Robinet C, Vabres P, Faivre L

Eur J Med Genet. 2020 Aug 14;:104036

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

Chevarin M, Duffourd Y, A Barnard R, Moutton S, Lecoquierre F, Daoud F, Kuentz P, Cabret C, Thevenon J, Gautier E, Callier P, St-Onge J, Jouan T, Lacombe D, Delrue MA, Goizet C, Morice-Picard F, Van-Gils J, Munnich A, Lyonnet S, Cormier-Daire V, Baujat G, Holder M, Petit F, Leheup B, Odent S, Jouk PS, Lopez G, Geneviève D, Collignon P, Martin-Coignard D, Jacquette A, Perrin L, Putoux A, Sarrazin E, Amarof K, Missotte I, Coubes C, Jagadeesh S, Lapi E, Demurger F, Goldenberg A, Doco-Fenzy M, Mignot C, Héron D, Jean-Marçais N, Masurel A, El Chehadeh S, Marle N, Huet F, Binquet C, Collod-Beroud G, Arnaud P, Hanna N, Boileau C, Jondeau G, Olaso R, Lechner D, Poe C, Assoum M, Carmignac V, Duplomb L, Tran Mau-Them F, Philippe C, Vitobello A, Bruel AL, Boland A, Deleuze JF, Thauvin-Robinet C, Rivière JB, O'Roak BJ, Faivre L

J. Med. Genet.. 2020 Apr 10;:

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

Tarris G, Belliot G, Callier P, Huet F, Martin L, de Rougemont A

Pediatr. Infect. Dis. J.. 2019 Oct 15;:

Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.

Lehalle D, Colombo R, O'Grady M, Héron B, Houcinat N, Kuentz P, Moutton S, Sorlin A, Thevenon J, Delanne J, Gay S, Racine C, Garde A, Tran Mau-Them F, Philippe C, Vitobello A, Nambot S, Huet F, Duffourd Y, Feillet F, Thauvin-Robinet C, Marlin S, Faivre L

Am. J. Med. Genet. A. 2019 Jun 26;:

Carriage of a single strain of non-toxigenic biovar Belfanti () in four patients with cystic fibrosis.

Pivot D, Fanton A, Badell-Ocando E, Benouachkou M, Astruc K, Huet F, Amoureux L, Neuwirth C, Criscuolo A, Aho S, Toubiana J, Brisse S

J. Clin. Microbiol.. 2019 Feb 27;:

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

Bruel AL, Thevenon J, Huet F, Jean-Marcais N, Odent S, Dubourg C, Lehalle D, Tran Mau-Them F, Philippe C, Moutton S, Houcinat N, Gay S, Guibaud L, Duffourd Y, Rivière JB, Faivre L, Thauvin-Robinet C

Clin. Genet.. 2018 Mar 2;:

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

Esteve C, Francescatto L, Tan PL, Bourchany A, De Leusse C, Marinier E, Blanchard A, Bourgeois P, Brochier-Armanet C, Bruel AL, Delarue A, Duffourd Y, Ecochard-Dugelay E, Hery G, Huet F, Gauchez P, Gonzales E, Guettier-Bouttier C, Komuta M, Lacoste C, Maudinas R, Mazodier K, Rimet Y, Rivière JB, Roquelaure B, Sigaudy S, Stephenne X, Thauvin-Robinet C, Thevenon J, Sarles J, Levy N, Badens C, Goulet O, Hugot JP, Katsanis N, Faivre L, Fabre A

Am. J. Hum. Genet.. 2018 Mar 1;102(3):364-374

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

Bourchany A, Thauvin-Robinet C, Lehalle D, Bruel AL, Masurel-Paulet A, Jean N, Nambot S, Willems M, Lambert L, El Chehadeh-Djebbar S, Schaefer E, Jaquette A, St-Onge J, Poe C, Jouan T, Chevarin M, Callier P, Mosca-Boidron AL, Laurent N, Lefebvre M, Huet F, Houcinat N, Moutton S, Philippe C, Tran-Mau-Them F, Vitobello A, Kuentz P, Duffourd Y, Rivière JB, Thevenon J, Faivre L

Eur J Med Genet. 2017 Aug;:

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

Coron N, Pihet M, Fréalle E, Lemeille Y, Pinel C, Pelloux H, Gargala G, Favennec L, Accoceberry I, Durand-Joly I, Dalle F, Huet F, Fanton A, Boldron A, Loeuille GA, Domblides P, Coltey B, Pin I, Llerena C, Troussier F, Person C, Marguet C, Wizla N, Thumerelle C, Turck D, Bui S, Fayon M, Duhamel A, Prévotat A, Wallaert B, Leroy S, Bouchara JP, Delhaes L

Mycopathologia. 2017 Jul;:

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

Quartier A, Poquet H, Gilbert-Dussardier B, Rossi M, Casteleyn AS, Portes VD, Feger C, Nourisson E, Kuentz P, Redin C, Thevenon J, Mosca-Boidron AL, Callier P, Muller J, Lesca G, Huet F, Geoffroy V, El Chehadeh S, Jung M, Trojak B, Le Gras S, Lehalle D, Jost B, Maury S, Masurel A, Edery P, Thauvin-Robinet C, Gérard B, Mandel JL, Faivre L, Piton A

Eur. J. Hum. Genet.. 2017 Apr;25(4):423-431

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

Vandenplas Y, Ludwig T, Bouritius H, Alliet P, Forde D, Peeters S, Huet F, Hourihane J

Acta Paediatr.. 2017 Mar;:

Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis.

Bruel AL, Masurel-Paulet A, Rivière JB, Duffourd Y, Lehalle D, Bensignor C, Huet F, Borgnon J, Roucher F, Kuentz P, Deleuze JF, Thauvin-Robinet C, Faivre L, Thevenon J

Clin. Genet.. 2017 Feb;91(2):333-338

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

Gauthier-Vasserot A, Thauvin-Robinet C, Bruel AL, Duffourd Y, St-Onge J, Jouan T, Rivière JB, Heron D, Donadieu J, Bellanné-Chantelot C, Briandet C, Huet F, Kuentz P, Lehalle D, Duplomb-Jego L, Gautier E, Maystadt I, Pinson L, Amram D, El Chehadeh S, Melki J, Julia S, Faivre L, Thevenon J

Am. J. Med. Genet. A. 2017 Jan;173(1):62-71

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

Huet F, Abrahamse-Berkeveld M, Tims S, Simeoni U, Beley G, Savagner C, Vandenplas Y, Hourihane JO

J. Pediatr. Gastroenterol. Nutr.. 2016 Oct;63(4):e43-53

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

Masurel-Paulet A, Piton A, Chancenotte S, Redin C, Thauvin-Robinet C, Henrenger Y, Minot D, Creppy A, Ruffier-Bourdet M, Thevenon J, Kuentz P, Lehalle D, Curie A, Blanchard G, Ghosn E, Bonnet M, Archimbaud-Devilliers M, Huet F, Perret O, Philip N, Mandel JL, Faivre L

Am. J. Med. Genet. A. 2016 Aug;170(8):2103-10

Clinical severity and molecular characteristics of circulating and emerging rotaviruses in young children attending hospital emergency departments in France.

de Rougemont A, Kaplon J, Fremy C, Legrand-Guillien MC, Minoui-Tran A, Payan C, Vabret A, Mendes-Martins L, Chouchane M, Maudinas R, Huet F, Dubos F, Hober D, Lazrek M, Bouquignaud C, Decoster A, Alain S, Languepin J, Gillet Y, Lina B, Mekki Y, Morfin-Sherpa F, Guigon A, Guinard J, Foulongne V, Rodiere M, Avettand-Fenoel V, Bonacorsi S, Garbarg-Chenon A, Gendrel D, Lebon P, Lorrot M, Mariani P, Meritet JF, Schnuriger A, Agius G, Beby-Defaux A, Oriot D, Colimon R, Lagathu G, Mory O, Pillet S, Pozzetto B, Stephan JL, Aho S, Pothier P,

Clin. Microbiol. Infect.. 2016 Aug;22(8):737.e9-737.e15

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.

Saunier C, Støve SI, Popp B, Gérard B, Blenski M, AhMew N, de Bie C, Goldenberg P, Isidor B, Keren B, Leheup B, Lampert L, Mignot C, Tezcan K, Mancini GM, Nava C, Wasserstein M, Bruel AL, Thevenon J, Masurel A, Duffourd Y, Kuentz P, Huet F, Rivière JB, van Slegtenhorst M, Faivre L, Piton A, Reis A, Arnesen T, Thauvin-Robinet C, Zweier C

Hum. Mutat.. 2016 Aug;37(8):755-64

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

Thevenon J, Duffourd Y, Masurel-Paulet A, Lefebvre M, Feillet F, El Chehadeh-Djebbar S, St-Onge J, Steinmetz A, Huet F, Chouchane M, Darmency-Stamboul V, Callier P, Thauvin-Robinet C, Faivre L, Rivière JB

Clin. Genet.. 2016 Jun;89(6):700-7

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

Thevenon J, Souchay C, Seabold GK, Dygai-Cochet I, Callier P, Gay S, Corbin L, Duplomb L, Thauvin-Robinet C, Masurel-Paulet A, El Chehadeh S, Avila M, Minot D, Guedj E, Chancenotte S, Bonnet M, Lehalle D, Wang YX, Kuentz P, Huet F, Mosca-Boidron AL, Marle N, Petralia RS, Faivre L

Eur J Hum Genet. 2015 Oct 21

Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.

Bourchany A, Giurgea I, Thevenon J, Goldenberg A, Morin G, Bremond-Gignac D, Paillot C, Lafontaine PO, Thouvenin D, Massy J, Duncombe A, Thauvin-Robinet C, Masurel-Paulet A, Chehadeh SE, Huet F, Bron A, Creuzot-Garcher C, Lyonnet S, Faivre L

Am. J. Med. Genet. A. 2015 Jul;167(7):1587-92

Management of pancreatic, gastrointestinal and liver complications in adult cystic fibrosis.

Munck A, Languepin J, Debray D, Lamireau T, Abely M, Huet F, Maudinas R, Michaud L, Mas E

Rev Mal Respir. 2015 Jun;32(6):566-85

[Puberty and cystic fibrosis].

Bournez M, Huet F

Arch Pediatr. 2015 May;22(5 Suppl 1):167-8

Angelman syndrome: a case series assessing neurological issues in adulthood.

Giroud M, Daubail B, Khayat N, Chouchane M, Berger E, Muzard E, Medeiros de Bustos E, Thauvin-Robinet C, Faivre L, Masurel A, Darmency-Stamboul V, Huet F, Béjot Y, Giroud M, Moulin T

Eur. Neurol.. 2015 ;73(1-2):119-25

Central venous thrombosis and thrombophilia in cystic fibrosis: A prospective study.

Munck A, Kheniche A, Alberti C, Hubert D, Martine RG, Nove-Josserand R, Pin I, Bremont F, Chiron R, Couderc L, Dalphin ML, Darviot E, Delaisi B, Dominique S, Durieu I, Fanton A, Fayon M, Gérardin M, Giniès JL, Giraut C, Grenet D, Guillot M, Huet F, Le Bourgeois M, Murris-Epin M, Ramel S, Sardet A, Sermet-Gaudelus I, Varaigne F, Wanin S, Weiss L, Hurtaud MF

J. Cyst. Fibros.. 2015 Jan;14(1):97-103

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.

Thauvin-Robinet C, Lee JS, Lopez E, Herranz-Pérez V, Shida T, Franco B, Jego L, Ye F, Pasquier L, Loget P, Gigot N, Aral B, Lopes CA, St-Onge J, Bruel AL, Thevenon J, González-Granero S, Alby C, Munnich A, Vekemans M, Huet F, Fry AM, Saunier S, Rivière JB, Attié-Bitach T, Garcia-Verdugo JM, Faivre L, Mégarbané A, Nachury MV

Nat. Genet.. 2014 Aug;46(8):905-11

[Newborn screening in France: where are we going?].

Sarles J, Huet F, Cheillan D, Roussey M

Arch Pediatr. 2014 Aug;21(8):813-5

Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis.

Masurel-Paulet A, Drumare I, Holder M, Cuisset JM, Vallee L, Defoort S, Bourgois B, Pernes P, Cuvellier JC, Huet F, Chehadeh SE, Thevenon J, Callier P, Thauvin C, Faivre L, Andrieux J

Am J Med Genet A. 2014 Jun;164A(6):1537-44

Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.

Gueneau L, Duplomb L, Sarda P, Hamel C, Aral B, Chehadeh SE, Gigot N, St-Onge J, Callier P, Thevenon J, Huet F, Carmignac V, Droin N, Faivre L, Thauvin-Robinet C

Am J Med Genet A. 2014 Feb;164A(2):522-7

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.

El Chehadeh-Djebbar S, Blair E, Holder-Espinasse M, Moncla A, Frances AM, Rio M, Debray FG, Rump P, Masurel-Paulet A, Gigot N, Callier P, Duplomb L, Aral B, Huet F, Thauvin-Robinet C, Faivre L

Eur J Hum Genet. 2013 Jul;21(7):736-42

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.

Thauvin-Robinet C, Auclair M, Duplomb L, Caron-Debarle M, Avila M, St-Onge J, Le Merrer M, Le Luyer B, Heron D, Mathieu-Dramard M, Bitoun P, Petit JM, Odent S, Amiel J, Picot D, Carmignac V, Thevenon J, Callier P, Laville M, Reznik Y, Fagour C, Nunes ML, Capeau J, Lascols O, Huet F, Faivre L, Vigouroux C, Riviere JB

Am J Hum Genet. 2013 Jul 11;93(1):141-9

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.

Courcet JB, Faivre L, Malzac P, Masurel-Paulet A, Lopez E, Callier P, Lambert L, Lemesle M, Thevenon J, Gigot N, Duplomb L, Ragon C, Marle N, Mosca-Boidron AL, Huet F, Philippe C, Moncla A, Thauvin-Robinet C

J Med Genet. 2012 Dec;49(12):731-6

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

Carmignac V, Thevenon J, Ades L, Callewaert B, Julia S, Thauvin-Robinet C, Gueneau L, Courcet JB, Lopez E, Holman K, Renard M, Plauchu H, Plessis G, De Backer J, Child A, Arno G, Duplomb L, Callier P, Aral B, Vabres P, Gigot N, Arbustini E, Grasso M, Robinson PN, Goizet C, Baumann C, Di Rocco M, Sanchez Del Pozo J, Huet F, Jondeau G, Collod-Beroud G, Beroud C, Amiel J, Cormier-Daire V, Riviere JB, Boileau C, De Paepe A, Faivre L

Am J Hum Genet. 2012 Nov 2;91(5):950-7

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

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