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Nuclear control of lung cancer cells migration, invasion and bioenergetics by eukaryotic translation initiation factor 3F.

Esteves P, Dard L, Brillac A, Hubert C, Sarlak S, Rousseau B, Dumon E, Izotte J, Bonneu M, Lacombe D, Dupuy JW, Amoedo N, Rossignol R.

Oncogene. 2019 Sep 16. doi: 10.1038/s41388-019-1009-x. [Epub ahead of print]


Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.

Margot H, Boursier G, Duflos C, Sanchez E, Amiel J, Andrau JC, Arpin S, Brischoux-Boucher E, Boute O, Burglen L, Caille C, Capri Y, Collignon P, Conrad S, Cormier-Daire V, Delplancq G, Dieterich K, Dollfus H, Fradin M, Faivre L, Fernandes H, Francannet C, Gatinois V, Gerard M, Goldenberg A, Ghoumid J, Grotto S, Guerrot AM, Guichet A, Isidor B, Jacquemont ML, Julia S, Khau Van Kien P, Legendre M, Le Quan Sang KH, Leheup B, Lyonnet S, Magry V, Manouvrier S, Martin D, Morel G, Munnich A, Naudion S, Odent S, Perrin L, Petit F, Philip N, Rio M, Robbe J, Rossi M, Sarrazin E, Toutain A, Van Gils J, Vera G, Verloes A, Weber S, Whalen S, Sanlaville D, Lacombe D, Aladjidi N, Geneviève D.

Genet Med. 2019 Jul 31. doi: 10.1038/s41436-019-0623-x. [Epub ahead of print]


Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T.

NPJ Genom Med. 2019 Jul 1;4:16. doi: 10.1038/s41525-019-0090-y. eCollection 2019.


Confirmation of Atypical Presentation With Nonprogressive Leukodystrophy in eIF2B-Related Disorders.

Scappaticci C, Van-Gils J, Samaan S, Bessou P, Lacombe D, Chateil JF, Pedespan JM, Saves JL, Boespflug-Tanguy O, Goizet C.

Pediatr Neurol. 2019 Mar 1. pii: S0887-8994(18)30369-2. doi: 10.1016/j.pediatrneurol.2019.02.005. [Epub ahead of print] No abstract available.


Semen and male genital tract characteristics of patients with Fabry disease: the FERTIFABRY multicentre observational study.

Papaxanthos-Roche A, Maillard A, Chansel-Debordeaux L, Albert M, Patrat C, Lidove O, Germain DP, Perez P, Lacombe D.

Basic Clin Androl. 2019 May 15;29:7. doi: 10.1186/s12610-019-0088-4. eCollection 2019.


Addressing the dichotomy between individual and societal approaches to personalised medicine in oncology.

Salgado R, Solit DB, Rimm DL, Bogaerts J, Canetta R, Lively T, Lyerly K, Span PN, Bateman-House A, Makady A, Bergmann L, Nagai S, Smith C, Robson M, Savage M, Voest E, Sweeney C, Lambin P, Thomas M, Harris L, Lacombe D, Massard C; IBCD-Faculty.

Eur J Cancer. 2019 Jun;114:128-136. doi: 10.1016/j.ejca.2019.03.025. Epub 2019 May 3.


Establishing treatment optimisation as part of personalised medicine development.

Lacombe D, Quaglio G, Lejeune S, Saesen R, Rübig P.

Eur J Cancer. 2019 May;113:96-97. doi: 10.1016/j.ejca.2019.03.014. Epub 2019 Apr 15. No abstract available.


Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients.

Germain DP, Fouilhoux A, Decramer S, Tardieu M, Pillet P, Fila M, Rivera S, Deschênes G, Lacombe D.

Clin Genet. 2019 Aug;96(2):107-117. doi: 10.1111/cge.13546. Epub 2019 Jun 6.


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 Aug;56(8):526-535. doi: 10.1136/jmedgenet-2018-105778. Epub 2019 Mar 28.


Evaluation of the template letter regarding the disclosure of genetic information within the family in France.

Zordan C, Monteil L, Haquet E, Cordier C, Toussaint E, Roche P, Dorian V, Maillard A, Lhomme E, Richert L, Pasquier L, Akloul L, Taris N, Lacombe D.

J Community Genet. 2019 Mar 27. doi: 10.1007/s12687-019-00418-7. [Epub ahead of print]


PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1.

Bonnemason-Carrere P, Morice-Picard F, Pennamen P, Arveiler B, Fergelot P, Goizet C, Hellegouarch M, Lacombe D, Plaisant C, Raclet V, Rooryck C, Lasseaux E, Trimouille A.

Am J Med Genet A. 2019 Jun;179(6):1030-1033. doi: 10.1002/ajmg.a.61127. Epub 2019 Mar 23.


Moving forward from drug-centred to patient-centred research: A white paper initiated by EORTC and developed together with the BioMed Alliance members.

Lacombe D, O'Morain C, Casadei B, Hill K, Mateus E, Lories R, Brusselle G.

Eur Respir J. 2019 Feb 21;53(2). pii: 1801870. doi: 10.1183/13993003.01870-2018. Print 2019 Feb. No abstract available.


Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD).

Arnaud P, Hanna N, Benarroch L, Aubart M, Bal L, Bouvagnet P, Busa T, Dulac Y, Dupuis-Girod S, Edouard T, Faivre L, Gouya L, Lacombe D, Langeois M, Leheup B, Milleron O, Naudion S, Odent S, Tchitchinadze M, Ropers J, Jondeau G, Boileau C.

Genet Med. 2019 Sep;21(9):2015-2024. doi: 10.1038/s41436-019-0444-y. Epub 2019 Feb 11.


Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations.

Van-Gils J, Naudion S, Toutain J, Lancelot G, Attié-Bitach T, Blesson S, Demeer B, Doray B, Gonzales M, Martinovic J, Whalen S, Taine L, Arveiler B, Lacombe D, Fergelot P.

Clin Genet. 2019 Mar;95(3):420-426. doi: 10.1111/cge.13493. Epub 2019 Jan 11.


Late translational research: putting forward a new model for developing new anti-cancer treatments that addresses the needs of patients and society.

Lacombe D, Bogaerts J, Tombal B, Maignen F, Osipienko L, Sullivan R, Golfinopoulos V.

Mol Oncol. 2019 Mar;13(3):558-566. doi: 10.1002/1878-0261.12431. Epub 2019 Jan 19. Review.


Prenatal retinoic acid exposure reveals candidate genes for craniofacial disorders.

Berenguer M, Darnaudery M, Claverol S, Bonneu M, Lacombe D, Rooryck C.

Sci Rep. 2018 Nov 30;8(1):17492. doi: 10.1038/s41598-018-35681-0.


Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.

Bessis D, Miquel J, Bourrat E, Chiaverini C, Morice-Picard F, Abadie C, Manna F, Baumann C, Best M, Blanchet P, Bursztejn AC, Capri Y, Coubes C, Giuliano F, Guillaumont S, Hadj-Rabia S, Jacquemont ML, Jeandel C, Lacombe D, Mallet S, Mazereeuw-Hautier J, Molinari N, Pallure V, Pernet C, Philip N, Pinson L, Sarda P, Sigaudy S, Vial Y, Willems M, Geneviève D, Verloes A, Cavé H.

Br J Dermatol. 2019 Jun;180(6):1438-1448. doi: 10.1111/bjd.17404. Epub 2019 Jan 18.


Responding to the challenges of international collaborations between the east and the west - report of the first JCOG-EORTC symposium and a perspective from young JCOG and EORTC investigators.

Kataoka K, Kaider-Person O, Kasper B, Starlinger P, Caballero C, Menis J, Hendriks LE, Terada M, Collette L, Nakamura K, Lacombe D, Fukuda H.

Jpn J Clin Oncol. 2019 Jan 1;49(1):96-99. doi: 10.1093/jjco/hyy155.


Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture.

Trimouille A, Tingaud-Sequeira A, Pennamen P, André G, Bouron J, Boucher C, Fergelot P, Lacombe D, Arveiler B, Rooryck C.

Eur J Hum Genet. 2019 Mar;27(3):384-388. doi: 10.1038/s41431-018-0290-4. Epub 2018 Oct 29.


Interest of chromosomal microarray analysis in the prenatal diagnosis of fetal intrauterine growth restriction.

Brun S, Pennamen P, Mattuizzi A, Coatleven F, Vuillaume ML, Lacombe D, Arveiler B, Toutain J, Rooryck C.

Prenat Diagn. 2018 Dec;38(13):1111-1119. doi: 10.1002/pd.5372. Epub 2018 Nov 22.


Does GDPR harm or benefit research participants? An EORTC point of view.

Negrouk A, Lacombe D.

Lancet Oncol. 2018 Oct;19(10):1278-1280. doi: 10.1016/S1470-2045(18)30620-X. Epub 2018 Oct 1. No abstract available.


Novel KDM5B splice variants identified in patients with developmental disorders: Functional consequences.

Lebrun N, Mehler-Jacob C, Poirier K, Zordan C, Lacombe D, Carion N, Billuart P, Bienvenu T.

Gene. 2018 Dec 30;679:305-313. doi: 10.1016/j.gene.2018.09.016. Epub 2018 Sep 12.


Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant.

Angelini C, Van Gils J, Bigourdan A, Jouk PS, Lacombe D, Menegon P, Moutton S, Riant F, Sole G, Tournier-Lasserve E, Trimouille A, Vincent M, Goizet C.

Eur J Med Genet. 2019 Jun;62(6):103530. doi: 10.1016/j.ejmg.2018.08.011. Epub 2018 Aug 22.


Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.

Bessis D, Morice-Picard F, Bourrat E, Abadie C, Aouinti S, Baumann C, Best M, Bursztejn AC, Capri Y, Chiaverini C, Coubes C, Giuliano F, Hadj-Rabia S, Jacquemont ML, Lacombe D, Lyonnet S, Mallet S, Mazereeuw-Hautier J, Miquel J, Molinari N, Parfait B, Pernet C, Philip N, Pinson L, Pouvreau N, Vial Y, Sarda P, Sigaudy S, Verloes A, Cavé H, Geneviève D.

Br J Dermatol. 2019 Jan;180(1):172-180. doi: 10.1111/bjd.17077. Epub 2018 Sep 30.


Urgent need for pragmatic trial platforms in severe asthma.

Pilette C, Brightling C, Lacombe D, Brusselle G.

Lancet Respir Med. 2018 Aug;6(8):581-583. doi: 10.1016/S2213-2600(18)30291-1. No abstract available.


Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY.

Mauhin W, Lidove O, Amelin D, Lamari F, Caillaud C, Mingozzi F, Dzangué-Tchoupou G, Arouche-Delaperche L, Douillard C, Dussol B, Leguy-Seguin V, D'Halluin P, Noel E, Zenone T, Matignon M, Maillot F, Ly KH, Besson G, Willems M, Labombarda F, Masseau A, Lavigne C, Froissart R, Lacombe D, Ziza JM, Hachulla E, Benveniste O.

Orphanet J Rare Dis. 2018 Jul 31;13(1):127. doi: 10.1186/s13023-018-0877-4.


Prospective data registration and clinical trials for particle therapy in Europe.

Langendijk JA, Orecchia R, Haustermans K, Zips D, Balosso J, Lacombe D, Lievens Y, Weber DC, Grau C, Troost EGC.

Radiother Oncol. 2018 Jul;128(1):9-13. doi: 10.1016/j.radonc.2018.06.001. Epub 2018 Jul 7. Review.


Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.

Valence S, Cochet E, Rougeot C, Garel C, Chantot-Bastaraud S, Lainey E, Afenjar A, Barthez MA, Bednarek N, Doummar D, Faivre L, Goizet C, Haye D, Heron B, Kemlin I, Lacombe D, Milh M, Moutard ML, Riant F, Robin S, Roubertie A, Sarda P, Toutain A, Villard L, Ville D, Billette de Villemeur T, Rodriguez D, Burglen L.

Genet Med. 2019 Mar;21(3):553-563. doi: 10.1038/s41436-018-0089-2. Epub 2018 Jul 12.


Anaesthesia and risk of cancer recurrence after surgery: a plea for a multidisciplinary vision.

Forget P, Lacombe D.

Br J Anaesth. 2018 Jul;121(1):104-105. doi: 10.1016/j.bja.2018.04.019. No abstract available.


Redox mechanism of levobupivacaine cytostatic effect on human prostate cancer cells.

Jose C, Hebert-Chatelain E, Dias Amoedo N, Roche E, Obre E, Lacombe D, Rezvani HR, Pourquier P, Nouette-Gaulain K, Rossignol R.

Redox Biol. 2018 Sep;18:33-42. doi: 10.1016/j.redox.2018.05.014. Epub 2018 May 31.


IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences.

Brischoux-Boucher E, Trimouille A, Baujat G, Goldenberg A, Schaefer E, Guichard B, Hannequin P, Paternoster G, Baer S, Cabrol C, Weber E, Godfrin G, Lenoir M, Lacombe D, Collet C, Van Maldergem L.

Clin Genet. 2018 Oct;94(3-4):373-380. doi: 10.1111/cge.13409. Epub 2018 Jul 23.


Ubiquitin-Dependent Degradation of Mitochondrial Proteins Regulates Energy Metabolism.

Lavie J, De Belvalet H, Sonon S, Ion AM, Dumon E, Melser S, Lacombe D, Dupuy JW, Lalou C, Bénard G.

Cell Rep. 2018 Jun 5;23(10):2852-2863. doi: 10.1016/j.celrep.2018.05.013.


RAS signalling in energy metabolism and rare human diseases.

Dard L, Bellance N, Lacombe D, Rossignol R.

Biochim Biophys Acta Bioenerg. 2018 Sep;1859(9):845-867. doi: 10.1016/j.bbabio.2018.05.003. Epub 2018 May 8. Review.


Further delineation of the MECP2 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 Jun;55(6):359-371. doi: 10.1136/jmedgenet-2017-104956. Epub 2018 Apr 4.


Non-specific gastrointestinal features: Could it be Fabry disease?

Hilz MJ, Arbustini E, Dagna L, Gasbarrini A, Goizet C, Lacombe D, Liguori R, Manna R, Politei J, Spada M, Burlina A.

Dig Liver Dis. 2018 May;50(5):429-437. doi: 10.1016/j.dld.2018.02.011. Epub 2018 Mar 1. Review.


Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.

Baer S, Afenjar A, Smol T, Piton A, Gérard B, Alembik Y, Bienvenu T, Boursier G, Boute O, Colson C, Cordier MP, Cormier-Daire V, Delobel B, Doco-Fenzy M, Duban-Bedu B, Fradin M, Geneviève D, Goldenberg A, Grelet M, Haye D, Heron D, Isidor B, Keren B, Lacombe D, Lèbre AS, Lesca G, Masurel A, Mathieu-Dramard M, Nava C, Pasquier L, Petit A, Philip N, Piard J, Rondeau S, Saugier-Veber P, Sukno S, Thevenon J, Van-Gils J, Vincent-Delorme C, Willems M, Schaefer E, Morin G.

Clin Genet. 2018 Jul;94(1):141-152. doi: 10.1111/cge.13254. Epub 2018 May 17.


Metabolic Reprogramming in Amyotrophic Lateral Sclerosis.

Szelechowski M, Amoedo N, Obre E, Léger C, Allard L, Bonneu M, Claverol S, Lacombe D, Oliet S, Chevallier S, Le Masson G, Rossignol R.

Sci Rep. 2018 Mar 2;8(1):3953. doi: 10.1038/s41598-018-22318-5.


Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients.

Lefebvre M, Dieux-Coeslier A, Baujat G, Schaefer E, Judith SO, Bazin A, Pinson L, Attie-Bitach T, Baumann C, Fradin M, Pierquin G, Julia S, Quélin C, Doray B, Berg S, Vincent-Delorme C, Lambert L, Bachmann N, Lacombe D, Isidor B, Laurent N, Joelle R, Blanchet P, Odent S, Kervran D, Leporrier N, Abel C, Segers K, Guiliano F, Ginglinger-Fabre E, Selicorni A, Goldenberg A, El Chehadeh S, Francannet C, Demeer B, Duffourd Y, Thauvin-Robinet C, Verloes A, Cormier-Daire V, Riviere JB, Faivre L, Thevenon J.

J Med Genet. 2018 Jun;55(6):422-429. doi: 10.1136/jmedgenet-2017-104939. Epub 2018 Feb 19.


Toward a Tiered Model to Share Clinical Trial Data and Samples in Precision Oncology.

Broes S, Lacombe D, Verlinden M, Huys I.

Front Med (Lausanne). 2018 Jan 29;5:6. doi: 10.3389/fmed.2018.00006. eCollection 2018.


A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern.

Chartier S, Alby C, Boutaud L, Thomas S, Elkhartoufi N, Martinovic J, Kaplan J, Benachi A, Lacombe D, Sonigo P, Drunat S, Vekemans M, Agenor J, Encha Razavi F, Attie-Bitach T.

Birth Defects Res. 2018 Apr 17;110(7):598-602. doi: 10.1002/bdr2.1204. Epub 2018 Jan 22.


Molecular characterization of a series of 990 index patients with albinism.

Lasseaux E, Plaisant C, Michaud V, Pennamen P, Trimouille A, Gaston L, Monfermé S, Lacombe D, Rooryck C, Morice-Picard F, Arveiler B.

Pigment Cell Melanoma Res. 2018 Jul;31(4):466-474. doi: 10.1111/pcmr.12688. Epub 2018 Feb 14.


A transatlantic perspective on the integration of immuno-oncology prognostic and predictive biomarkers in innovative clinical trial design.

Morfouace M, Hewitt SM, Salgado R, Hartmann K, Litiere S, Tejpar S, Golfinopoulos V, Lively T, Thurin M, Conley B, Lacombe D.

Semin Cancer Biol. 2018 Oct;52(Pt 2):158-165. doi: 10.1016/j.semcancer.2018.01.003. Epub 2018 Jan 5. Review.


Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Ajmone PF, Badura-Stronka M, Baldo C, Baldi M, Bayat A, Bigoni S, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, De Brasi D, Devriendt K, Dinulos MB, Hjortshøj TD, Epifanio R, Faravelli F, Fiumara A, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Kuburovic V, Kutkowska-Kazmierczak A, Lacombe D, Lo Rizzo C, Luchetti A, Malbora B, Mammi I, Mari F, Montorsi G, Moutton S, Møller RS, Muschke P, Nielsen JEK, Obersztyn E, Pantaleoni C, Pellicciari A, Pisanti MA, Prpic I, Poch-Olive ML, Raviglione F, Renieri A, Ricci E, Rivieri F, Santen GW, Savasta S, Scarano G, Schanze I, Selicorni A, Silengo M, Smigiel R, Spaccini L, Sorge G, Szczaluba K, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zenker M, Conidi A, Zollino M, Rauch A, Zweier C, Garavelli L.

Genet Med. 2018 Sep;20(9):965-975. doi: 10.1038/gim.2017.221. Epub 2018 Jan 4.


A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T.

NPJ Genom Med. 2017 Oct 23;2:32. doi: 10.1038/s41525-017-0035-2. eCollection 2017. Erratum in: NPJ Genom Med. 2019 Jul 1;4:16.


19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.

Trimouille A, Houcinat N, Vuillaume ML, Fergelot P, Boucher C, Toutain J, Caignec CL, Vincent M, Nizon M, Andrieux J, Vanlerberghe C, Delobel B, Duban B, Mansour S, Baple E, McKeown C, Poke G, Robertshaw K, Fifield E, Fabretto A, Pecile V, Gasparini P, Carrozzi M, Lacombe D, Arveiler B, Rooryck C, Moutton S.

Eur J Hum Genet. 2018 Jan;26(1):85-93. doi: 10.1038/s41431-017-0037-7. Epub 2017 Nov 28.


Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

Legendre M, Abadie V, Attié-Bitach T, Philip N, Busa T, Bonneau D, Colin E, Dollfus H, Lacombe D, Toutain A, Blesson S, Julia S, Martin-Coignard D, Geneviève D, Leheup B, Odent S, Jouk PS, Mercier S, Faivre L, Vincent-Delorme C, Francannet C, Naudion S, Mathieu-Dramard M, Delrue MA, Goldenberg A, Héron D, Parent P, Touraine R, Layet V, Sanlaville D, Quélin C, Moutton S, Fradin M, Jacquette A, Sigaudy S, Pinson L, Sarda P, Guerrot AM, Rossi M, Masurel-Paulet A, El Chehadeh S, Piguel X, Rodriguez-Ballesteros M, Ragot S, Lyonnet S, Bilan F, Gilbert-Dussardier B.

Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):417-430. doi: 10.1002/ajmg.c.31591. Epub 2017 Nov 27.


Steps forward for cancer precision medicine.

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