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SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, van Reempts E, Tran Mau-Them F, Wentzensen IM, Au KS, Richardson K, Northrup H, Gatinois V, Geneviève D, Louie RJ, Lyons MJ, Laulund LW, Brasch-Andersen C, Maxel Juul T, El It F, Marle N, Callier P, Relator R, Haghshenas S, McConkey H, Kerkhof J, Cesario C, Novelli A, Brunetti-Pierri N, Pinelli M, Pennamen P, Naudion S, Legendre M, Courdier C, Trimouille A, Fenzy MD, Pais L, Yeung A, Nugent K, Roeder ER, Mitani T, Posey JE, Calame D, Yonath H, Rosenfeld JA, Musante L, Faletra F, Montanari F, Sartor G, Vancini A, Seri M, Besmond C, Poirier K, Hubert L, Hemelsoet D, Munnich A, Lupski JR, Philippe C, Thauvin-Robinet C, Faivre L, Sadikovic B, Govin J, Dermaut B, Vitobello A

Am J Hum Genet. 2023 04 17;:

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.

Colin E, Duffourd Y, Chevarin M, Tisserant E, Verdez S, Paccaud J, Bruel AL, Tran Mau-Them F, Denommé-Pichon AS, Thevenon J, Safraou H, Besnard T, Goldenberg A, Cogné B, Isidor B, Delanne J, Sorlin A, Moutton S, Fradin M, Dubourg C, Gorce M, Bonneau D, El Chehadeh S, Debray FG, Doco-Fenzy M, Uguen K, Chatron N, Aral B, Marle N, Kuentz P, Boland A, Olaso R, Deleuze JF, Sanlaville D, Callier P, Philippe C, Thauvin-Robinet C, Faivre L, Vitobello A

Front Cell Dev Biol. 2023 02 28;11:1021920

The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.

Chevarin M, Alcantara D, Albuisson J, Collonge-Rame MA, Populaire C, Selmani Z, Baurand A, Sawka C, Bertolone G, Callier P, Duffourd Y, Jonveaux P, Bignon YJ, Coupier I, Cornelis F, Cordier C, Mozelle-Nivoix M, Rivière JB, Kuentz P, Thauvin C, Boidot R, Ghiringhelli F, O'Driscoll M, Faivre L, Nambot S

Oncotarget. 2023 02 7;14:111-125

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

Jacquin C, Landais E, Poirsier C, Afenjar A, Akhavi A, Bednarek N, Bénech C, Bonnard A, Bosquet D, Burglen L, Callier P, Chantot-Bastaraud S, Coubes C, Coutton C, Delobel B, Descharmes M, Dupont JM, Gatinois V, Gruchy N, Guterman S, Heddar A, Herissant L, Heron D, Isidor B, Jaeger P, Jouret G, Keren B, Kuentz P, Le Caignec C, Levy J, Lopez N, Manssens Z, Martin-Coignard D, Marey I, Mignot C, Missirian C, Pebrel-Richard C, Pinson L, Puechberty J, Redon S, Sanlaville D, Spodenkiewicz M, Tabet AC, Verloes A, Vieville G, Yardin C, Vialard F, Doco-Fenzy M

Am J Med Genet A. 2022 11 11;:

Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes.

Schöpflin R, Melo US, Moeinzadeh H, Heller D, Laupert V, Hertzberg J, Holtgrewe M, Alavi N, Klever MK, Jungnitsch J, Comak E, Türkmen S, Horn D, Duffourd Y, Faivre L, Callier P, Sanlaville D, Zuffardi O, Tenconi R, Kurtas NE, Giglio S, Prager B, Latos-Bielenska A, Vogel I, Bugge M, Tommerup N, Spielmann M, Vitobello A, Kalscheuer VM, Vingron M, Mundlos S

Nat Commun. 2022 10 29;13(1):6470

OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants.

Colin E, Duffourd Y, Tisserant E, Relator R, Bruel AL, Tran Mau-Them F, Denommé-Pichon AS, Safraou H, Delanne J, Jean-Marçais N, Keren B, Isidor B, Vincent M, Mignot C, Heron D, Afenjar A, Heide S, Faudet A, Charles P, Odent S, Herenger Y, Sorlin A, Moutton S, Kerkhof J, McConkey H, Chevarin M, Poë C, Couturier V, Bourgeois V, Callier P, Boland A, Olaso R, Philippe C, Sadikovic B, Thauvin-Robinet C, Faivre L, Deleuze JF, Vitobello A

Front Cell Dev Biol. 2022 10 28;10:1021785

A rigorous genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.

Ben-Mahmoud A, Jun KR, Gupta V, Shastri P, de la Fuente A, Park Y, Shin KC, Kim CA, da Cruz AD, Pinto IP, Minasi LB, Silva da Cruz A, Faivre L, Callier P, Racine C, Layman LC, Kong IK, Kim CH, Kim WY, Kim HG

Front Mol Neurosci. 2022 10 6;15:979061

Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.

Jouret G, Egloff M, Landais E, Tassy O, Giuliano F, Karmous-Benailly H, Coutton C, Satre V, Devillard F, Dieterich K, Vieville G, Kuentz P, le Caignec C, Beneteau C, Isidor B, Nizon M, Callier P, Marquet V, Bieth E, Lévy J, Tabet AC, Lyonnet S, Baujat G, Rio M, Cartault F, Scheidecker S, Gouronc A, Schalk A, Jacquin C, Spodenkiewicz M, Angélini C, Pennamen P, Rooryck C, Doco-Fenzy M, Poirsier C

Am J Med Genet A. 2022 10 5;:

Detection of relevant pharmacogenetic information through exome sequencing in oncology.

Verdez S, Albuisson J, Duffourd Y, Boidot R, Reda M, Thauvin-Robinet C, Fumet JD, Ladoire S, Nambot S, Callier P, Faivre L, Ghiringhelli F, Picard N

Pharmacogenomics. 2022 08 31;:

iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells.

Mouka A, Arkoun B, Moison P, Drévillon L, Jarray R, Brisset S, Mayeur A, Bouligand J, Boland-Auge A, Deleuze JF, Yates F, Lemonnier T, Callier P, Duffourd Y, Nitschke P, Ollivier E, Bourdin A, De Vos J, Livera G, Tachdjian G, Maouche-Chrétien L, Tosca L

Sci Rep. 2022 08 22;12(1):14302

Assessing a New Prescreening Score for the Simplified Evaluation of the Clinical Quality and Relevance of eHealth Apps: Instrument Validation Study.

Wagneur N, Callier P, Zeitoun JD, Silber D, Sabatier R, Denis F

J Med Internet Res. 2022 07 5;24(7):e39590

Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

Lehalle D, Bruel AL, Vitobello A, Denommé-Pichon AS, Duffourd Y, Assoum M, Amiel J, Baujat G, Bessieres B, Bigoni S, Burglen L, Captier G, Dard R, Edery P, Fortunato F, Geneviève D, Goldenberg A, Guibaud L, Héron D, Holder-Espinasse M, Lederer D, Lopez Grondona F, Grotto S, Marlin S, Nadeau G, Picard A, Rossi M, Roume J, Sanlaville D, Saugier-Veber P, Triau S, Valenzuela Palafoll MI, Vanlerberghe C, Van Maldergem L, Vezain M, Vincent-Delorme C, Zivi E, Thevenon J, Vabres P, Thauvin-Robinet C, Callier P, Faivre L

Am J Med Genet A. 2022 Apr 21;:

Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.

Tisserant E, Vitobello A, Callegarin D, Verdez S, Bruel AL, Aho Glele LS, Sorlin A, Viora-Dupont E, Konyukh M, Marle N, Nambot S, Moutton S, Racine C, Garde A, Delanne J, Tran-Mau-Them F, Philippe C, Kuentz P, Poulleau M, Payet M, Poe C, Thauvin-Robinet C, Faivre L, Mosca-Boidron AL, Thevenon J, Duffourd Y, Callier P

Ann Hum Genet. 2022 Feb 9;:

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

Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network.

Denommé-Pichon AS, Vitobello A, Olaso R, Ziegler A, Jeanne M, Tran Mau-Them F, Couturier V, Racine C, Isidor B, Poë C, Jouan T, Boland A, Fin B, Bacq-Daian D, Besse C, Garde A, Prost A, Garret P, Tisserant É, Delanne J, Nambot S, Juven A, Gorce M, Nizon M, Vincent M, Moutton S, Fradin M, Lavillaureix A, Rollier P, Capri Y, Van-Gils J, Busa T, Sigaudy S, Pasquier L, Barth M, Bruel AL, Flamant C, Prouteau C, Bonneau D, Toutain A, Chantegret C, Callier P, Philippe C, Duffourd Y, Deleuze JF, Sorlin A, Faivre L, Thauvin-Robinet C

Eur J Hum Genet. 2021 Nov 15;:

Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Tran Mau-Them F, Duffourd Y, Vitobello A, Bruel AL, Denommé-Pichon AS, Nambot S, Delanne J, Moutton S, Sorlin A, , Couturier V, Bourgeois V, Chevarin M, Poe C, Mosca-Boidron AL, Callier P, Safraou H, Faivre L, Philippe C, Thauvin-Robinet C

Mol Genet Genomic Med. 2021 Oct 30;:e1836

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Carmignac V, Mignot C, Blanchard E, Kuentz P, Aubriot-Lorton MH, Parker VER, Sorlin A, Fraitag S, Courcet JB, Duffourd Y, Rodriguez D, Knox RG, Polubothu S, Boland A, Olaso R, Delepine M, Darmency V, Riachi M, Quelin C, Rollier P, Goujon L, Grotto S, Capri Y, Jacquemont ML, Odent S, Amram D, Chevarin M, Vincent-Delorme C, Catteau B, Guibaud L, Arzimanoglou A, Keddar M, Sarret C, Callier P, Bessis D, Geneviève D, Deleuze JF, Thauvin C, Semple RK, Philippe C, Rivière JB, Kinsler VA, Faivre L, Vabres P

Genet Med. 2021 08;23(8):1484-1491

EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.

Lévy J, Schell B, Nasser H, Rachid M, Ruaud L, Couque N, Callier P, Faivre L, Marle N, Engwerda A, van Ravenswaaij-Arts CMA, Plutino M, Karmous-Benailly H, Benech C, Redon S, Boute O, Boudry Labis E, Rama M, Kuentz P, Assoumani J, Van Maldergem L, Dupont C, Verloes A, Tabet AC

Clin Genet. 2021 Jun 27;:

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.

Thomas Q, Gautier T, Marafi D, Besnard T, Willems M, Moutton S, Isidor B, Cogné B, Conrad S, Tenconi R, Iascone M, Sorlin A, Masurel A, Dabir T, Jackson A, Banka S, Delanne J, Lupski JR, Saadi NW, Alkuraya FS, Zahrani FA, Agrawal PB, England E, Madden JA, Posey JE, Burglen L, Rodriguez D, Chevarin M, Nguyen S, Mau-Them FT, Duffourd Y, Garret P, Bruel AL, Callier P, Marle N, Denomme-Pichon AS, Duplomb L, Philippe C, Thauvin-Robinet C, Govin J, Faivre L, Vitobello A

Genet Med. 2021 Jun 10;:

High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.

Thomas Q, Vitobello A, Tran Mau-Them F, Duffourd Y, Fromont A, Giroud M, Daubail B, Jacquin-Piques A, Hervieu-Begue M, Moreau T, Osseby GV, Garret P, Nambot S, Delanne J, Bruel AL, Sorlin A, Callier P, Denomme-Pichon AS, Faivre L, Béjot Y, Philippe C, Thauvin-Robinet C, Moutton S

J Med Genet. 2021 Mar 5;:

High-fat diet intensifies MLL-AF9-induced acute myeloid leukemia through activation of the FLT3 signaling in mouse primitive hematopoietic cells.

Hermetet F, Mshaik R, Simonet J, Callier P, Delva L, Quéré R

. 2020 Sep 30;10(1):16187

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.

Tran Mau-Them F, Moutton S, Racine C, Vitobello A, Bruel AL, Nambot S, Kushner SA, de Vrij FMS, Lehalle D, Jean-Marçais N, Lecoquierre F, Delanne J, Thevenon J, Poe C, Jouan T, Chevarin M, Geneviève D, Willems M, Coubes C, Houcinat N, Masurel-Paulet A, Mosca-Boidron AL, Tisserant E, Callier P, Sorlin A, Duffourd Y, Faivre L, Philippe C, Thauvin-Robinet C

Hum. Genet.. 2020 May 12;:

Next-Generation Sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability.

Bruel AL, Vitobello A, Mau-Them FT, Nambot S, Sorlin A, Denommé-Pichon AS, Delanne J, Moutton S, Callier P, Duffourd Y, Philippe C, Faivre L, Thauvin-Robinet C

Clin. Genet.. 2020 Apr 26;:

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.

Carmignac V, Nambot S, Lehalle D, Callier P, Moortgat S, Benoit V, Ghoumid J, Delobel B, Smol T, Thuillier C, Zordan C, Naudion S, Bienvenu T, Touraine R, Ramond F, Zweier C, Reis A, Kraus C, Nizon M, Cogné B, Verloes A, Mau-Them FT, Sorlin A, Jouan T, Duffourd Y, Tisserant E, Philippe C, Vitobello A, Thevenon J, Faivre L, Thauvin-Robinet C

Clin. Genet.. 2020 Apr 11;:

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;:

Whole-exome sequencing identifies the first French MODY 6 family with a new mutation in the NEUROD1 gene.

Bouillet B, Crevisy E, Baillot-Rudoni S, Gallegarine D, Jouan T, Duffourd Y, Petit JM, Vergès B, Callier P

Diabetes Metab.. 2020 Mar 14;:

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.

Juven A, Nambot S, Piton A, Jean-Marçais N, Masurel A, Callier P, Marle N, Mosca-Boidron AL, Kuentz P, Philippe C, Chevarin M, Duffourd Y, Gautier E, Munnich A, Rio M, Rondeau S, El Chehadeh S, Schaefer É, Gérard B, Bouquillon S, Delorme CV, Francannet C, Laffargue F, Gouas L, Isidor B, Vincent M, Blesson S, Giuliano F, Pichon O, Le Caignec C, Journel H, Perrin-Sabourin L, Fabre-Teste J, Martin D, Vieville G, Dieterich K, Lacombe D, Denommé-Pichon AS, Thauvin-Robinet C, Faivre L

Eur. J. Hum. Genet.. 2020 Feb 18;:

Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization.

Uguen K, Jubin C, Duffourd Y, Bardel C, Malan V, Dupont JM, El Khattabi L, Chatron N, Vitobello A, Rollat-Farnier PA, Baulard C, Lelorch M, Leduc A, Tisserant E, Tran Mau-Them F, Danjean V, Delepine M, Till M, Meyer V, Lyonnet S, Mosca-Boidron AL, Thevenon J, Faivre L, Thauvin-Robinet C, Schluth-Bolard C, Boland A, Olaso R, Callier P, Romana S, Deleuze JF, Sanlaville D

Mol Genet Genomic Med. 2020 Jan 27;:e1114

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;:

Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.

Gatinois V, Bigi N, Mousty E, Chiesa J, Musizzano Y, Schneider A, Lefort G, Pinson L, Gaillard JB, Ragon C, Perez MJ, Tournaire M, Blanchet P, Corsini C, Haquet E, Callier P, Geneviève D, Pellestor F, Puechberty J

Mol Genet Genomic Med. 2019 Sep 7;:e00895

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.

Bruel AL, Nambot S, Quéré V, Vitobello A, Thevenon J, Assoum M, Moutton S, Houcinat N, Lehalle D, Jean-Marçais N, , Chevarin M, Jouan T, Poë C, Callier P, Tisserand E, Philippe C, Them FTM, Duffourd Y, Faivre L, Thauvin-Robinet C

Eur. J. Hum. Genet.. 2019 Jun 23;:

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.

Thauvin-Robinet C, Thevenon J, Nambot S, Delanne J, Kuentz P, Bruel AL, Chassagne A, Cretin E, Pelissier A, Peyron C, Gautier E, Lehalle D, Jean-Marçais N, Callier P, Mosca-Boidron AL, Vitobello A, Sorlin A, Tran Mau-Them F, Philippe C, Vabres P, Demougeot L, Poé C, Jouan T, Chevarin M, Lefebvre M, Bardou M, Tisserant E, Luu M, Binquet C, Deleuze JF, Verstuyft C, Duffourd Y, Faivre L

Eur. J. Hum. Genet.. 2019 Apr 24;:

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Schluth-Bolard C, Diguet F, Chatron N, Rollat-Farnier PA, Bardel C, Afenjar A, Amblard F, Amiel J, Blesson S, Callier P, Capri Y, Collignon P, Cordier MP, Coubes C, Demeer B, Chaussenot A, Demurger F, Devillard F, Doco-Fenzy M, Dupont C, Dupont JM, Dupuis-Girod S, Faivre L, Gilbert-Dussardier B, Guerrot AM, Houlier M, Isidor B, Jaillard S, Joly-Hélas G, Kremer V, Lacombe D, Le Caignec C, Lebbar A, Lebrun M, Lesca G, Lespinasse J, Levy J, Malan V, Mathieu-Dramard M, Masson J, Masurel-Paulet A, Mignot C, Missirian C, Morice-Picard F, Moutton S, Nadeau G, Pebrel-Richard C, Odent S, Paquis-Flucklinger V, Pasquier L, Philip N, Plutino M, Pons L, Portnoï MF, Prieur F, Puechberty J, Putoux A, Rio M, Rooryck-Thambo C, Rossi M, Sarret C, Satre V, Siffroi JP, Till M, Touraine R, Toutain A, Toutain J, Valence S, Verloes A, Whalen S, Edery P, Tabet AC, Sanlaville D

J. Med. Genet.. 2019 Mar 28;:

2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases.

Bruel AL, Vitobello A, Mau-Them FT, Nambot S, Duffourd Y, Quéré V, Kuentz P, Garret P, Thevenon J, Moutton S, Lehalle D, Jean-Marçais N, , Garde A, Delanne J, Lefebvre M, Lecoquierre F, Trost D, Cho M, Begtrup A, Telegrafi A, Vabres P, Mosca-Boidron AL, Callier P, Philippe C, Faivre L, Thauvin-Robinet C

Genet. Med.. 2018 Dec 19;:

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance.

Lehalle D, Altunoglu U, Bruel AL, Assoum M, Duffourd Y, Masurel A, Baujat G, Bessieres B, Captier G, Edery P, Elçioğlu NH, Geneviève D, Goldenberg A, Héron D, Grotto S, Marlin S, Putoux A, Rossi M, Saugier-Veber P, Triau S, Cabrol C, Vézain M, Vincent-Delorme C, Thauvin-Robinet C, Thevenon J, Vabres P, Callier P, Kayserili H, Faivre L

Am. J. Med. Genet. A. 2018 Dec 10;:

Type A competitiveness traits correlate with downregulation of c-Fos expression in patients with type 1 diabetes.

Chauvet-Gélinier JC, Mosca-Boidron AL, Lemogne C, Ragot S, Forestier N, Callegarin D, Allard C, Rebaï A, Bouillet B, Ponavoy E, Simoneau I, Petit JM, Bondolfi G, Callier P, Trojak B, Bonin B, Vergès B

Diabetes Metab.. 2018 Nov 23;:

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.

Allach El Khattabi L, Heide S, Caberg JH, Andrieux J, Doco Fenzy M, Vincent-Delorme C, Callier P, Chantot-Bastaraud S, Afenjar A, Boute-Benejean O, Cordier MP, Faivre L, Francannet C, Gerard M, Goldenberg A, Masurel-Paulet A, Mosca-Boidron AL, Marle N, Moncla A, Le Meur N, Mathieu-Dramard M, Plessis G, Lesca G, Rossi M, Edery P, Delahaye-Duriez A, De Pontual L, Tabet AC, Lebbar A, Suiro L, Ioos C, Natiq A, Chafai Elalaoui S, Missirian C, Receveur A, François-Fiquet C, Garnier P, Yardin C, Laroche C, Vago P, Sanlaville D, Dupont JM, Benzacken B, Pipiras E

J. Med. Genet.. 2018 Oct 4;:

Postmortem Diagnosis of Heart-hand Syndrome Associated With a 7p22.1p22.3 Deletion in a 16-week-old Fetus.

Tessier A, Callier P, LeMeur N, Frebourg T, Sabourin JC, Patrier S

Pediatr. Dev. Pathol.. 2018 Sep 7;:1093526618799293

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

Pizzo L, Jensen M, Polyak A, Rosenfeld JA, Mannik K, Krishnan A, McCready E, Pichon O, Le Caignec C, Van Dijck A, Pope K, Voorhoeve E, Yoon J, Stankiewicz P, Cheung SW, Pazuchanics D, Huber E, Kumar V, Kember RL, Mari F, Curró A, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà L, Vincent M, Nizon M, Mercier S, Bénéteau C, Blesson S, Martin-Coignard D, Mosca-Boidron AL, Caberg JH, Bucan M, Zeesman S, Nowaczyk MJM, Lefebvre M, Faivre L, Callier P, Skinner C, Keren B, Perrine C, Prontera P, Marle N, Renieri A, Reymond A, Kooy RF, Isidor B, Schwartz C, Romano C, Sistermans E, Amor DJ, Andrieux J, Girirajan S

Genet. Med.. 2018 Sep 7;:

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

Miguet M, Faivre L, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Lefebvre M, Thevenon J, Dubourg C, Julia S, Sarret C, Remerand G, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Vigneron J, Leheup B, Lambert L, Philippe C, Béri-Dexheimer M, Cuisset JM, Andrieux J, Plessis G, Toutain A, Guibaud L, Cormier-Daire V, Rio M, Bonnefont JP, Echenne B, Journel H, Burglen L, Chantot-Bastaraud S, Bienvenu T, Baumann C, Perrin L, Drunat S, Jouk PS, Dieterich K, Devillard F, Lacombe D, Philip N, Sigaudy S, Moncla A, Missirian C, Badens C, Perreton N, Thauvin-Robinet C, AChro-Puce R, Pedespan JM, Rooryck C, Goizet C, Vincent-Delorme C, Duban-Bedu B, Bahi-Buisson N, Afenjar A, Maincent K, Héron D, Alessandri JL, Martin-Coignard D, Lesca G, Rossi M, Raynaud M, Callier P, Mosca-Boidron AL, Marle N, Coutton C, Satre V, Caignec CL, Malan V, Romana S, Keren B, Tabet AC, Kremer V, Scheidecker S, Vigouroux A, Lackmy-Port-Lis M, Sanlaville D, Till M, Carneiro M, Gilbert-Dussardier B, Willems M, Van Esch H, Portes VD, El Chehadeh S

J. Med. Genet.. 2018 Apr 4;:

Potential added value of a RT-qPCR method of SOX 11 expression, in the context of a multidisciplinary diagnostic assessment of B cell malignancies.

Magne J, Jenvrin A, Chauchet A, Casasnovas O, Donzel A, Jego L, Aral B, Guy J, Nadal N, Vernerey D, Callier P, Garnache-Ottou F, Ferrand C

Exp Hematol Oncol. 2018 ;7:5

What is epidemiology? Changing definitions of epidemiology 1978-2017.

Frérot M, Lefebvre A, Aho S, Callier P, Astruc K, Aho Glélé LS

PLoS ONE. 2018 ;13(12):e0208442

Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.

Lehalle D, Altunoglu U, Bruel AL, Arnaud E, Blanchet P, Choi JW, Désir J, Kiliç E, Lederer D, Pinson L, Thauvin-Robinet C, Singer A, Thevenon J, Callier P, Kayserili H, Faivre L

Am. J. Med. Genet. A. 2017 Dec;173(12):3136-3142

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.

Nambot S, Thevenon J, Kuentz P, Duffourd Y, Tisserant E, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Lehalle D, Jean-Marçais N, Lefebvre M, Vabres P, El Chehadeh-Djebbar S, Philippe C, Tran Mau-Them F, St-Onge J, Jouan T, Chevarin M, Poé C, Carmignac V, Vitobello A, Callier P, Rivière JB, Faivre L, Thauvin-Robinet C,

Genet. Med.. 2017 Nov 2;:

A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant induced polycystic kidney disease.

Duplomb L, Droin N, Bouchot O, Thauvin CR, Bruel AL, Thevenon J, Callier P, Meurice G, Pata-Merci N, Loffroy R, Vandroux D, Da Costa R, Carmignac V, Solary E, Faivre L

Hum. Mol. Genet.. 2017 Sep;:

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;:

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

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

El Chehadeh S, Touraine R, Prieur F, Reardon W, Bienvenu T, Chantot-Bastaraud S, Doco-Fenzy M, Landais E, Philippe C, Marle N, Callier P, Mosca-Boidron AL, Mugneret F, Le Meur N, Goldenberg A, Guerrot AM, Chambon P, Satre V, Coutton C, Jouk PS, Devillard F, Dieterich K, Afenjar A, Burglen L, Moutard ML, Addor MC, Lebon S, Martinet D, Alessandri JL, Doray B, Miguet M, Devys D, Saugier-Veber P, Drunat S, Aral B, Kremer V, Rondeau S, Tabet AC, Thevenon J, Thauvin-Robinet C, Perreton N, Des Portes V, Faivre L

Clin. Genet.. 2017 Apr;91(4):576-588

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, Devinsky O, Duffourd Y, Duplomb-Jego L, Gérard B, Jacquette A, Kuentz P, Masurel-Paulet A, McDougall C, Moutton S, Olivié H, Park SM, Rauch A, Revencu N, Rivière JB, Rubin K, Simonic I, Shears DJ, Smol T, Taylor Tavares AL, Terhal P, Thevenon J, Van Gassen K, Vincent-Delorme C, Willemsen MH, Wilson GN, Zackai E, Zweier C, Callier P, Thauvin-Robinet C, Faivre L

J. Med. Genet.. 2017 Jan;:

Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis.

Lefebvre M, Duffourd Y, Jouan T, Poe C, Jean-Marçais N, Verloes A, St-Onge J, Riviere JB, Petit F, Pierquin G, Demeer B, Callier P, Thauvin-Robinet C, Faivre L, Thevenon J

Clin. Genet.. 2016 Nov;:

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

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey.

Lefebvre M, Sanlaville D, Marle N, Thauvin-Robinet C, Gautier E, Chehadeh SE, Mosca-Boidron AL, Thevenon J, Edery P, Alex-Cordier MP, Till M, Lyonnet S, Cormier-Daire V, Amiel J, Philippe A, Romana S, Malan V, Afenjar A, Marlin S, Chantot-Bastaraud S, Bitoun P, Heron B, Piparas E, Morice-Picard F, Moutton S, Chassaing N, Vigouroux-Castera A, Lespinasse J, Manouvrier-Hanu S, Boute-Benejean O, Vincent-Delorme C, Petit F, Meur NL, Marti-Dramard M, Guerrot AM, Goldenberg A, Redon S, Ferrec C, Odent S, Caignec CL, Mercier S, Gilbert-Dussardier B, Toutain A, Arpin S, Blesson S, Mortemousque I, Schaefer E, Martin D, Philip N, Sigaudy S, Busa T, Missirian C, Giuliano F, Benailly HK, Kien PK, Leheup B, Benneteau C, Lambert L, Caumes R, Kuentz P, François I, Heron D, Keren B, Cretin E, Callier P, Julia S, Faivre L

Clin. Genet.. 2016 May;89(5):630-5

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.

Poirsier C, Besseau-Ayasse J, Schluth-Bolard C, Toutain J, Missirian C, Le Caignec C, Bazin A, de Blois MC, Kuentz P, Catty M, Choiset A, Plessis G, Basinko A, Letard P, Flori E, Jimenez M, Valduga M, Landais E, Lallaoui H, Cartault F, Lespinasse J, Martin-Coignard D, Callier P, Pebrel-Richard C, Portnoi MF, Busa T, Receveur A, Amblard F, Yardin C, Harbuz R, Prieur F, Le Meur N, Pipiras E, Kleinfinger P, Vialard F, Doco-Fenzy M

Eur J Hum Genet. 2015 Oct 28

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

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

Nambot S, Masurel A, El Chehadeh S, Mosca-Boidron AL, Thauvin-Robinet C, Lefebvre M, Marle N, Thevenon J, Perez-Martin S, Dulieu V, Huet F, Plessis G, Andrieux J, Jouk PS, Billy-Lopez G, Coutton C, Morice-Picard F, Delrue MA, Heron D, Rooryck C, Goldenberg A, Saugier-Veber P, Joly-Helas G, Calenda P, Kuentz P, Manouvrier-Hanu S, Dupuis-Girod S, Callier P, Faivre L

Eur J Hum Genet. 2015 Sep 23

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

Mosca-Boidron AL, Gueneau L, Huguet G, Goldenberg A, Henry C, Gigot N, Pallesi-Pocachard E, Falace A, Duplomb L, Thevenon J, Duffourd Y, St-Onge J, Chambon P, Riviere JB, Thauvin-Robinet C, Callier P, Marle N, Payet M, Ragon C, Goubran Botros H, Buratti J, Calderari S, Dumas G, Delorme R, Lagarde N, Pinoit JM, Rosier A, Masurel-Paulet A, Cardoso C, Mugneret F, Saugier-Veber P, Campion D, Faivre L, Bourgeron T

Eur J Hum Genet. 2015 Sep 23

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

El Chehadeh S, Faivre L, Mosca-Boidron AL, Malan V, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Callier P, Lefebvre M, Marle N, Dubourg C, Julia S, Sarret C, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Le Caignec C, Vigneron J, Leheup B, Lambert L, Philippe C, Cuisset JM, Andrieux J, Plessis G, Toutain A, Goldenberg A, Cormier-Daire V, Rio M, Bonnefont JP, Thevenon J, Echenne B, Journel H, Afenjar A, Burglen L, Bienvenu T, Addor MC, Lebon S, Martinet D, Baumann C, Perrin L, Drunat S, Jouk PS, Devillard F, Coutton C, Lacombe D, Delrue MA, Philip N, Moncla A, Badens C, Perreton N, Masurel A, Thauvin-Robinet C, Portes VD, Guibaud L

Am J Med Genet A. 2015 Sep 30

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

Piard J, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, González-Enseñat MA, Rio M, Bodemer C, Philip N, Cordier MP, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, DiDonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Geneviève D, Thevenon J, Courcet JB, Rivière JB, Collet C, Gigot N, Faivre L, Thauvin-Robinet C

Clin. Genet.. 2015 Mar;87(3):244-51

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.

Desch L, Marle N, Mosca-Boidron AL, Faivre L, Eliade M, Payet M, Ragon C, Thevenon J, Aral B, Ragot S, Ardalan A, Dhouibi N, Bensignor C, Thauvin-Robinet C, El Chehadeh S, Callier P

Mol Cytogenet. 2015 Jun 25;8:42

Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.

El Chehadeh S, Bonnet C, Callier P, Beri M, Dupre T, Payet M, Ragon C, Mosca-Boidron AL, Marle N, Mugneret F, Masurel-Paulet A, Thevenon J, Seta N, Duplomb L, Jonveaux P, Faivre L, Thauvin-Robinet C

JIMD Rep. 2015;20:45-55

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.

Thevenon J, Monnier N, Callier P, Dieterich K, Francoise M, Montgomery T, Kjaergaard S, Neas K, Dixon J, Dahm TL, Huet F, Ragon C, Mosca-Boidron AL, Marle N, Duplomb L, Aubriot-Lorton MH, Mugneret F, Vokes SA, Tucker HW, Lunardi J, Faivre L, Jouk PS, Thauvin-Robinet C

Am J Med Genet A. 2014 Dec;164A(12):3027-34

Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene.

Degrolard-Courcet E, Sokolowska J, Padeano MM, Guiu S, Bronner M, Chery C, Coron F, Lepage C, Chapusot C, Loustalot C, Jouve JL, Hatem C, Ferrant E, Martin L, Coutant C, Baurand A, Couillault G, Delignette A, El Chehadeh S, Lizard S, Arnould L, Fumoleau P, Callier P, Mugneret F, Philippe C, Frebourg T, Jonveaux P, Faivre L

Eur J Hum Genet. 2014 Aug;22(8):979-87

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

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.

Callier P, Calvel P, Matevossian A, Makrythanasis P, Bernard P, Kurosaka H, Vannier A, Thauvin-Robinet C, Borel C, Mazaud-Guittot S, Rolland A, Desdoits-Lethimonier C, Guipponi M, Zimmermann C, Stevant I, Kuhne F, Conne B, Santoni F, Lambert S, Huet F, Mugneret F, Jaruzelska J, Faivre L, Wilhelm D, Jegou B, Trainor PA, Resh MD, Antonarakis SE, Nef S

PLoS Genet. 2014 May 1;10(5):e1004340

Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.

Marle N, Martinet D, Aboura A, Joly-Helas G, Andrieux J, Flori E, Puechberty J, Vialard F, Sanlaville D, Fert Ferrer S, Bourrouillou G, Tabet AC, Quilichini B, Simon-Bouy B, Bazin A, Becker M, Stora H, Amblard S, Doco-Fenzy M, Molina Gomes D, Girard-Lemaire F, Cordier MP, Satre V, Schneider A, Lemeur N, Chambon P, Jacquemont S, Fellmann F, Vigouroux-Castera A, Molignier R, Delaye A, Pipiras E, Liquier A, Rousseau T, Mosca AL, Kremer V, Payet M, Rangon C, Mugneret F, Aho S, Faivre L, Callier P

Clin Genet. 2014 Mar;85(3):233-44

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

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.

Thevenon J, Callier P, Poquet H, Bache I, Menten B, Malan V, Cavaliere ML, Girod JP, Thauvin-Robinet C, El Chehadeh S, Pinoit JM, Huet F, Verges B, Petit JM, Mosca-Boidron AL, Marle N, Mugneret F, Masurel-Paulet A, Novelli A, Tumer Z, Loeys B, Lyonnet S, Faivre L

J Med Genet. 2014 Jan;51(1):21-7

Dysregulation of FOXG1 pathway in a 14q12 microdeletion case.

Perche O, Haddad G, Menuet A, Callier P, Marcos M, Briault S, Laudier B

Am J Med Genet A. 2013 Dec;161A(12):3072-7

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.

Callier P, Aral B, Hanna N, Lambert S, Dindy H, Ragon C, Payet M, Collod-Beroud G, Carmignac V, Delrue MA, Goizet C, Philip N, Busa T, Dulac Y, Missotte I, Sznajer Y, Toutain A, Francannet C, Megarbane A, Julia S, Edouard T, Sarda P, Amiel J, Lyonnet S, Cormier-Daire V, Gilbert B, Jacquette A, Heron D, Collignon P, Lacombe D, Morice-Picard F, Jouk PS, Cusin V, Willems M, Sarrazin E, Amarof K, Coubes C, Addor MC, Journel H, Colin E, Khau Van Kien P, Baumann C, Leheup B, Martin-Coignard D, Doco-Fenzy M, Goldenberg A, Plessis G, Thevenon J, Pasquier L, Odent S, Vabres P, Huet F, Marle N, Mosca-Boidron AL, Mugneret F, Gauthier S, Binquet C, Thauvin-Robinet C, Jondeau G, Boileau C, Faivre L

Clin Genet. 2013 Dec;84(6):507-21

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

Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene.

Avila M, Kirchhoff M, Marle N, Hove HD, Chouchane M, Thauvin-Robinet C, Masurel A, Mosca-Boidron AL, Callier P, Mugneret F, Kjaergaard S, Faivre L

Am J Med Genet A. 2013 Jul;161A(7):1594-8

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

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.

Darmency-Stamboul V, Burglen L, Lopez E, Mejean N, Dean J, Franco B, Rodriguez D, Lacombe D, Desguerres I, Cormier-Daire V, Doray B, Pasquier L, Gonzales M, Pastore M, Crenshaw ML, Huet F, Gigot N, Aral B, Callier P, Faivre L, Attie-Bitach T, Thauvin-Robinet C

Eur J Med Genet. 2013 Jun;56(6):301-8

Additional Evidence to Support the Role of the 20q13.33 Region in Susceptibility to Autism.

Mosca-Boidron AL, Valduga M, Thauvin-Robinet C, Lagarde N, Marle N, Henry C, Pinoit JM, Huet F, Beri-Deixheimer M, Ragon C, Gueneau L, Payet M, Callier P, Mugneret F, Jonveaux P, Faivre L

Am J Med Genet A. 2013 Apr 23

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.

Thevenon J, Callier P, Andrieux J, Delobel B, David A, Sukno S, Minot D, Mosca Anne L, Marle N, Sanlaville D, Bonnet M, Masurel-Paulet A, Levy F, Gaunt L, Farrell S, Le Caignec C, Toutain A, Carmignac V, Mugneret F, Clayton-Smith J, Thauvin-Robinet C, Faivre L

Eur J Hum Genet. 2013 Jan;21(1):82-8

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

What can we learn from old microdeletion syndromes using array-CGH screening?

Mosca-Boidron AL, Bouquillon S, Faivre L, Callier P, Andrieux J, Marle N, Bonnet C, Vincent-Delorme C, Berri M, Plessis G, Manouvrier-Hanu S, Dieux-Coeslier A, Thauvin-Robinet C, Pipiras E, Delahaye A, Payet M, Ragon C, Masurel-Paulet A, Questiaux E, Benzacken B, Jonveaux P, Mugneret F, Holder-Espinasse M

Clin Genet. 2012 Jul;82(1):41-7

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.

Thevenon J, Lopez E, Keren B, Heron D, Mignot C, Altuzarra C, Beri-Dexheimer M, Bonnet C, Magnin E, Burglen L, Minot D, Vigneron J, Morle S, Anheim M, Charles P, Brice A, Gallagher L, Amiel J, Haffen E, Mach C, Depienne C, Doummar D, Bonnet M, Duplomb L, Carmignac V, Callier P, Marle N, Mosca-Boidron AL, Roze V, Aral B, Razavi F, Jonveaux P, Faivre L, Thauvin-Robinet C

J Med Genet. 2012 Jun;49(6):400-8

Exploring the potential role of disease-causing mutation in a gene desert: duplication of noncoding elements 5' of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability.

Bonnet C, Masurel-Paulet A, Khan AA, Beri-Dexheimer M, Callier P, Mugneret F, Philippe C, Thauvin-Robinet C, Faivre L, Jonveaux P

Hum Mutat. 2012 Feb;33(2):355-8

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

Lopez E, Callier P, Cormier-Daire V, Lacombe D, Moncla A, Bottani A, Lambert S, Goldenberg A, Doray B, Odent S, Sanlaville D, Gueneau L, Duplomb L, Huet F, Aral B, Thauvin-Robinet C, Faivre L

Am J Med Genet A. 2012 Feb;158A(2):333-9

Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.

Piard J, Holder-Espinasse M, Aral B, Gigot N, Rio M, Tardieu M, Puzenat E, Goldenberg A, Toutain A, Franques J, MacDermot K, Bessis D, Boute O, Callier P, Gueneau L, Huet F, Vabres P, Catteau B, Faivre L, Thauvin-Robinet C

Eur J Med Genet. 2012 Jan;55(1):8-11

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.

Benko S, Gordon CT, Mallet D, Sreenivasan R, Thauvin-Robinet C, Brendehaug A, Thomas S, Bruland O, David M, Nicolino M, Labalme A, Sanlaville D, Callier P, Malan V, Huet F, Molven A, Dijoud F, Munnich A, Faivre L, Amiel J, Harley V, Houge G, Morel Y, Lyonnet S

J Med Genet. 2011 Dec;48(12):825-30

GLI3 is rarely implicated in OFD syndromes with midline abnormalities.

Avila M, Gigot N, Aral B, Callier P, Gautier E, Thevenon J, Pasquier L, Lopez E, Gueneau L, Duplomb L, Goldenberg A, Baumann C, Cormier V, Marlin S, Masurel-Paulet A, Huet F, Attie-Bitach T, Faivre L, Thauvin-Robinet C

Hum Mutat. 2011 Nov;32(11):1332-3

The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome.

El Chehadeh-Djebbar S, Faivre L, Moncla A, Aral B, Missirian C, Popovici C, Rump P, Van Essen A, Frances AM, Gigot N, Cusin V, Masurel-Paulet A, Gueneau L, Payet M, Ragon C, Marle N, Mosca-Boidron AL, Huet F, Balikova I, Teyssier JR, Mugneret F, Thauvin-Robinet C, Callier P

J Med Genet. 2011 Nov;48(11):e1

Germline deletion of the miR-17 approximately 92 cluster causes skeletal and growth defects in humans.

de Pontual L, Yao E, Callier P, Faivre L, Drouin V, Cariou S, Van Haeringen A, Genevieve D, Goldenberg A, Oufadem M, Manouvrier S, Munnich A, Vidigal JA, Vekemans M, Lyonnet S, Henrion-Caude A, Ventura A, Amiel J

Nat Genet. 2011 Sep 4;43(10):1026-30

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernandez-Aranda F, Fernandez-Real JM, Gratacos M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Mannik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Bena F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jimenez-Murcia S, Helas GJ, Jonveaux P, Kaksonen S, Keren B, Kloss-Brandstatter A, Knoers NV, Koolen DA, Kroisel PM, Kronenberg F, Labalme A, Landais E, Lapi E, Layet V, Legallic S, Leheup B, Leube B, Lewis S, Lucas J, MacDermot KD, Magnusson P, Marshall C, Mathieu-Dramard M, McCarthy MI, Meitinger T, Mencarelli MA, Merla G, Moerman A, Mooser V, Morice-Picard F, Mucciolo M, Nauck M, Ndiaye NC, Nordgren A, Pasquier L, Petit F, Pfundt R, Plessis G, Rajcan-Separovic E, Ramelli GP, Rauch A, Ravazzolo R, Reis A, Renieri A, Richart C, Ried JS, Rieubland C, Roberts W, Roetzer KM, Rooryck C, Rossi M, Saemundsen E, Satre V, Schurmann C, Sigurdsson E, Stavropoulos DJ, Stefansson H, Tengstrom C, Thorsteinsdottir U, Tinahones FJ, Touraine R, Vallee L, van Binsbergen E, Van der Aa N, Vincent-Delorme C, Visvikis-Siest S, Vollenweider P, Volzke H, Vulto-van Silfhout AT, Waeber G, Wallgren-Pettersson C, Witwicki RM, Zwolinksi S, Andrieux J, Estivill X, Gusella JF, Gustafsson O, Metspalu A, Scherer SW, Stefansson K, Blakemore AI, Beckmann JS, Froguel P

Nature. 2011 Aug 31;478(7367):97-102

New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.

Demars J, Rossignol S, Netchine I, Lee KS, Shmela M, Faivre L, Weill J, Odent S, Azzi S, Callier P, Lucas J, Dubourg C, Andrieux J, Le Bouc Y, El-Osta A, Gicquel C

Hum Mutat. 2011 Oct;32(10):1171-82

Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses.

Mosca AL, Pinson L, Andrieux J, Copin H, Bigi N, Puechberty J, Sarda P, Receveur A, Sevestre H, Pigeonnat S, Marle N, Payet M, Ragon C, Rousseau T, Thauvin-Robinet C, Masurel-Paulet A, Schneider A, Laurent N, Sagot P, Mugneret F, Lefort G, Faivre L, Callier P

Prenat Diagn. 2011 Sep;31(9):912-4

A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region.

Mosca AL, Callier P, Faivre L, Laurent N, Rousseau T, Marle N, Payet M, Guy H, Couvreur S, Masurel-Paulet A, Sagot P, Thauvin-Robinet C, Mugneret F

Am J Med Genet A. 2011 Aug;155A(8):2031-4

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

Snape K, Hanks S, Ruark E, Barros-Nunez P, Elliott A, Murray A, Lane AH, Shannon N, Callier P, Chitayat D, Clayton-Smith J, Fitzpatrick DR, Gisselsson D, Jacquemont S, Asakura-Hay K, Micale MA, Tolmie J, Turnpenny PD, Wright M, Douglas J, Rahman N

Nat Genet. 2011 Jun;43(6):527-9

17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome.

El Chehadeh-Djebbar S, Callier P, Masurel-Paulet A, Bensignor C, Mejean N, Payet M, Ragon C, Durand C, Marle N, Mosca-Boidron AL, Huet F, Mugneret F, Faivre L, Thauvin-Robinet C

Eur J Med Genet. 2011 May-Jun;54(3):369-73

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia.

Cognet M, Nougayrede A, Malan V, Callier P, Cretolle C, Faivre L, Genevieve D, Goldenberg A, Heron D, Mercier S, Philip N, Sigaudy S, Verloes A, Sarnacki S, Munnich A, Vekemans M, Lyonnet S, Etchevers H, Amiel J, de Pontual L

Eur J Hum Genet. 2011 May;19(5):602-6

De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection.

Thevenon J, Callier P, Thauvin-Robinet C, Mejean N, Falcon-Eicher S, Maynadie M, de Maistre E, Bidot S, Huet F, Beri-Dexheimer M, Jonveaux P, Mugneret F, Faivre L

Am J Med Genet A. 2011 Jan;155A(1):126-9

Delineation of 15q13.3 microdeletions.

Masurel-Paulet A, Andrieux J, Callier P, Cuisset JM, Le Caignec C, Holder M, Thauvin-Robinet C, Doray B, Flori E, Alex-Cordier MP, Beri M, Boute O, Delobel B, Dieux A, Vallee L, Jaillard S, Odent S, Isidor B, Beneteau C, Vigneron J, Bilan F, Gilbert-Dussardier B, Dubourg C, Labalme A, Bidon C, Gautier A, Pernes P, Pinoit JM, Huet F, Mugneret F, Aral B, Jonveaux P, Sanlaville D, Faivre L

Clin Genet. 2010 Aug;78(2):149-61

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

Faivre L, Khau Van Kien P, Callier P, Ruiz-Pallares N, Baudoin C, Plancke A, Wolf JE, Thauvin-Robinet C, Durand E, Minot D, Dulieu V, Metaizeau JD, Leheup B, Coron F, Bidot S, Huet F, Jondeau G, Boileau C, Claustres M, Mugneret F

Eur J Med Genet. 2010 Jul-Aug;53(4):208-12

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.

Bonnet C, Andrieux J, Beri-Dexheimer M, Leheup B, Boute O, Manouvrier S, Delobel B, Copin H, Receveur A, Mathieu M, Thiriez G, Le Caignec C, David A, de Blois MC, Malan V, Philippe A, Cormier-Daire V, Colleaux L, Flori E, Dollfus H, Pelletier V, Thauvin-Robinet C, Masurel-Paulet A, Faivre L, Tardieu M, Bahi-Buisson N, Callier P, Mugneret F, Edery P, Jonveaux P, Sanlaville D

J Med Genet. 2010 Jun;47(6):377-84.

Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers-Danlos syndrome.

Mosca AL, Callier P, Masurel-Paulet A, Thauvin-Robinet C, Marle N, Nouchy M, Huet F, Dipanda D, De Paepe A, Coucke P, Mugneret F, Faivre L

Am J Med Genet A. 2010 May;152A(5):1314-7.

Vertebral defects as an unusual mode of presentation of 22q11.2 deletion.

Faivre L, Masurel-Paulet A, Callier P, Mejean N, Gay S, Grimaldi M, Mugneret F, Huet F, Thauvin-Robinet C

Am J Med Genet A. 2009 Dec;149A(12):2865-6.

Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene.

Thauvin-Robinet C, Callier P, Franco B, Zuffardi O, Payet M, Aral B, Gigot N, Donzel A, Mosca-Boidron AL, Masurel-Paulet A, Huet F, Teyssier JR, Mugneret F, Faivre L

Am J Med Genet A. 2009 Aug;149A(8):1846-9.

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.

Thauvin-Robinet C, Franco B, Saugier-Veber P, Aral B, Gigot N, Donzel A, Van Maldergem L, Bieth E, Layet V, Mathieu M, Teebi A, Lespinasse J, Callier P, Mugneret F, Masurel-Paulet A, Gautier E, Huet F, Teyssier JR, Tosi M, Frebourg T, Faivre L

Hum Mutat. 2009 Feb;30(2):E320-9.

Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication.

Mosca AL, Callier P, Faivre L, Marle N, Mejean N, Thauvin-Robinet C, Masurel-Paulet A, Madinier N, Durand C, Couillaud G, Ragot S, Huet F, Teyssier JR, Mugneret F

Am J Med Genet A. 2009 Feb 1;149A(3):475-81.

Two cases of mosaicism for complex chromosome rearrangements (CCRM) associated with secondary infertility.

Lebbar A, Callier P, Baverel F, Marle N, Patrat C, Le Tessier D, Mugneret F, Dupont JM

Am J Med Genet A. 2008 Oct 15;146A(20):2651-6.

Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome.

Callier P, Faivre L, Thauvin-Robinet C, Marle N, Mosca AL, D'Athis P, Guy J, Masurel-Paulet A, Joly L, Guiraud S, Teyssier JR, Huet F, Mugneret F

Am J Med Genet A. 2008 Aug 15;146A(16):2109-15.

Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri-du-chat syndrome.

Mosca AL, Callier P, Leheup B, Marle N, Jalloul M, Coffinet L, Feillet F, Valduga M, Jonveaux P, Mugneret F

Am J Med Genet A. 2007 Jun 15;143A(12):1342-7.

Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation.

Thauvin-Robinet C, Callier P, Laurent N, Rousseau T, Masurel-Paulet A, Marle N, Huet F, Sagot P, Faivre L, Mugneret F

Prenat Diagn. 2007 Jun;27(6):555-9.

Polymicrogyria, cerebellar vermis hypoplasia, severe facial dysmorphism and cleft palate: a new syndrome?

Mosca AL, Laurent N, Guibaud L, Callier P, Thauvin-Robinet C, Mugneret F, Huet F, Grimaldi M, Gouyon JB, Sandre D, Faivre L

Eur J Med Genet. 2007 Jan-Feb;50(1):48-53

Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: a new case of Casamassima-Morton-Nance syndrome?

Thauvin-Robinet C, Laurent N, Rousseau T, Couvreur S, Cusin V, Callier P, Mugneret F, Durand C, Huet F, Sagot P, Faivre L

Eur J Med Genet. 2007 Jan-Feb;50(1):85-91

A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome.

Colombani M, Chouchane M, Pitelet G, Morales L, Callier P, Pinard JP, Lion-Francois L, Thauvin-Robinet C, Mugneret F, Huet F, Guibaud L, Faivre L

Eur J Med Genet. 2006 Nov-Dec;49(6):466-71

Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterization.

Callier P, Faivre L, Marle N, Thauvin-Robinet C, Sanlaville D, Gosset P, Prieur M, Labenne M, Huet F, Mugneret F

Am J Med Genet A. 2006 Sep 1;140A(17):1859-63.

Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome.

Callier P, Faivre L, Cusin V, Marle N, Thauvin-Robinet C, Sandre D, Rousseau T, Sagot P, Lacombe E, Faber V, Mugneret F

Am J Med Genet A. 2005 Aug 30;137(2):204-7.

Unique survival in chrondrodysplasia-hermaphrodism syndrome.

Thauvin-Robinet C, Mugneret F, Callier P, Chouchane M, Garron E, Manceau E, Laurent N, Durand C, Nivelon-Chevallier A, Sapin E, Huet F, Faivre L

Am J Med Genet A. 2005 Jan 30;132A(3):335-7.

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