Publications

28 juin 2017

Liste des publications communes des centres de référence
Liste non exhaustive

TORDJMAN S, ANDERSON GM, BOTBOL M, TOUTAIN A, SARDA P, CARLIER C, SAUGIER-VEBER P, BAUMANN C, COHEN D, LAGNEAUX C, TABET AC, VERLOES A.
Autistic Disorder in patients with Williams-Beuren Syndrome: A reconsideration of the Williams-Beuren Syndrome phenotype. PlosONE 2012; 7(3): e30778.

DOUNIOL M, JACQUETTE A, COHEN D, BODEAU N, RACHIDI L, ANGEARD N, CUISSET JM, VALLEE L, EYMARD B, PLAZA M, HÉRON D, GUILE JM.
Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1 includes internalizing disorder, borderline intelligence, visual spatial construction disability and attention deficit disorder. Developmental Medicine Child Neurology 2012; 54: 905-911.

AMIET C, GOURFINKEL-AN I, LAURENT C, CARAYOL J, GENIN B, LEGUERN E, TORDJMAN S, COHEN D.
Epilepsy in simplex autism pedigrees is much lower than in multiplex pedigrees. Biological Psychiatry 2013; 74:e3-4.

TORDJMAN S, ANDERSON GM, COHEN D, TOUITOU Y, CARLIER M, BONNOT O, SAUGIER-VEBER P, VERLOES A.
Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome. Molecular Autism 2013; 4:e29.

AMIET C, GOURFINKEL-AN I, LAURENT C, BODEAU N, GENIN B, LEGUERN E, TORDJMAN S, COHEN D.
Epilepsy in multiplex autism pedigrees is associated with intellectual disability and known genetic and non genetic causes, but not with gender. Molecular Autism 2013; 4: e47

NAVA C, KEREN B, MIGNOT C, RASTETTER A, CHANTOT-BASTARAUD, FAUDET A, FONTENEAU E, AMIET C, LAURENT C, JACQUETTE A, WHALEN S, AFENJAR A, PÉRISSE D, DOUMAR D, DORISON N, LEBOYER M, SIFFROI JP, COHEN D, BRICE A, HÉRON D, DEPIENNE C.
Copy number variant analysis using SNP microarrays identified novel candidate genes in patients with autism spectrum disorders. European Journal of Human Genetics 2014; 22: 71-78.

OUSS L, SAINT-GEORGES C, ROBEL L, BODEAU N, LAZNIK MC, CRESPIN GC, CHETOUANI M, BURSZTEJN C, GOLSE B, NABBOUT R, DESGUERRES I, COHEN D.
Taking into account infant’s engagement and emotion during early interactions may help to determine the risk of autism or intellectual disability in infants with West syndrome. European Child and Adolescent Psychiatry 2014; 23(3):143-9.

BONNOT O, KLÜNEMANN HH, SEDEL F, COHEN D, WALTERFANG M.
Psychosis secondary to treatable metabolic disorders in adults: diagnostic and treatment implications. Orphanet Journal of Rare Diseases 2014; 9(1):e65.

GUINCHAT V, CRAVERO C, DIAZ L, PÉRISSE D, XAVIER J, AMIET C, GOURFINKEL-AN I, BODEAU N, WACHTEL L, COHEN D, CONSOLI A.
Acute behavioral crises in psychiatric inpatients with autism spectrum disorder (ASD): recognition of concomitant medical or non-ASD psychiatric conditions predicts enhanced improvement. Research in Developmental Disabilities 2015; 38:242-255.

GUINCHAT, V., CRAVERO, C., DIAZ, L., et al.
Intérêt des unités neurocomportementales multidisciplinaires dans la prise en charge des décompensations aiguës des patients présentant un trouble du spectre autistique. Neuropsychiatrie de l’Enfance et de l’Adolescence, 2015, vol. 63, no 6, p. 351-361.

HUERTA E, JACQUETTE A, COHEN D, GARGIULO M, SERVAIS L, EYMARD B, HÉRON D, ANGEARD N.
Forme infantile de la dystrophie myotonique de type 1 (DM1) et troubles du spectre autistique (TSA) : existe-t-il une comorbidité ? Neuropsychiatrie de l’Enfance et de l’Adolescence 2015; 63: 91-98.

NAVA C, RUPP J, BOISSEL JP, MIGNOT C, RASTETTER A, AMIET C, JACQUETTE A, DUPUITS C, BOUTEILLER D, KEREN B, RUBERG M, FAUDET A, LAURENT C, PHILIPPE A, PÉRISSE D, LEBRUN N, CHELLY J, COHEN D, HÉRON D, BRICE A, CLOSS E, DEPIENNE C.
Hypomorphic variants of SLC7A3 (CAT-3) on chromosome X in males with autism spectrum disorders. Amino Acids 2015; 47: 2647-2658.

BONNOT O, COHEN D, THUILLEAUX D, CONSOLI A, CABAL-BERTHOUMIEU S, TAUBER MT.
Psychotropic treatments in Prader Willi syndrome: a critical review of published literature. European Journal of Pediatrics 2016; 175(1):9-18.

XAVIER J, BOURVIS N, TANET A, GOMES M, PERISSE D, MAREY I, COHEN D, CONSOLI A.
Bipolar Disorder type 1 in a 17 year-old Girl with Wolfram Syndrome. Journal of Child and Adolescent Psychopharmacology (in press).

LELEU A, SAUCOURT G, RIGARD C, BAUDOUIN JY, ROSSI M, EDERY P, FRANCK N, DEMILY C.
Emotional face space in children and adolescents with 22q11.2 deletion syndrome. Eur Child Adolesc Psychiatry 2015

DEMILY C, BUMSEL E, LEGALLIC S, BOU J, VAN AMELSVOORT T, ZINKSTOK J, MANOUVRIER-HANU S, VOGELS A, DROUIN-GARRAUD V, PHILIP N, PHILIPPE A, HERON D, SARDA P, HANNEQUIN D, PETIT M, THIBAUT F, FREBOURG T, CAMPION D.
ZDHHC8 single nucleotidic polymorphism is not associated with psychiatric features of the 22q11 deletion syndrome and schizophrenia. Psychiatric Genetics 2007; 17: 311-312.

DEMILY C, ROSSI M, CHESNOY-SERVANIN G, MARTIN B, POISSON A, SANLAVILLE D, EDERY P.
Complex phenotype with social communication disorder caused by mosaic supernumerary ring chromosome 19p. BMC Med Genet. 2014; 15: 132.

RAUX G, BUMSEL E, HECKETSWEILER B, VAN AMELSVOORT T, ZINKSTOK J, MANOUVRIER-HANU S, FANTINI C, GM BRÉVIÈRE, DI ROSA G, PUSTORINO G, VOGELS A, SWILLEN A, LEGALLIC S, BOU J, OPOLCZYNSKI G, DROUIN-GARRAUD V, LEMARCHAND M, PHILIP N, GÉRARD-DESPLANCHES A, CARLIER M, A, NOLEN MC, HERON D, AFENJAR A, SARDA P, LACOMBE D, COIZET C, ALEMBIK Y, LAYET V, HANNEQUIN D, DEMILY C, PETIT M, THIBAUT F, FREBOURG T, CAMPION D.
Involvement of hyperprolinemia in cognititive and psychiatric features of the 22q11 deletion syndrome. Human Molecular Genetics 2007; 16: 83-91.

PAEPEGAEY AC, COUPAYE M, JAZIRI A, MÉNESGUEN F, DUBERN B, POLAK M, OPPERT JM, TAUBER M, PINTO G, POITOU C.Impact of transitional care on endocrine and anthropometric parameters in Prader-Willi syndrome. Endocr Connect. 2018 May;7(5):663-672. doi: 10.1530/EC-18-0089. Epub 2018 Apr 17.

ALLAS S, CAIXAS A, POITOU C, COUPAYE M, THUILLEAUX D, LORENZINI F, DIENE G, CRINO A, ILLOUZ F, GRUGNI G, POTVIN D, BOCCHINI S, DELALE T, ABRIBAT T, TAUBER M.
AZP-531, an unacylated ghrelin analog, improves food-related behavior in patients with Prader-Willi syndrome: A randomized placebo-controlled trial. PLoS One. 2018 Jan 10;13(1):e0190849. doi: 10.1371/journal.pone.0190849.

THUILLEAUX D, LAURIER V, COPET P, TRICOT J, DEMEER G, MOURRE F, TAUBER M, JAUREGI J.
A model to characterize psychopathological features in adults with Prader-Willi syndrome. Am J Med Genet A. 2018 Jan;176(1):41-47. doi:10.1002/ajmg.a.38525

VIAUX-SAVELON S, ROSENBLUM O, GUEDENEY A, DIENE G, ÇABAL-BERTHOUMIEU S, FICHAUX-BOURIN P, MOLINAS C, FAYE S, VALETTE M, BASCOUL C, COHEN D, TAUBER M.
Dyssynchrony and perinatal psychopathology impact of child disease on parents-child interactions, the paradigm of Prader Willi syndrom. J Physiol Paris. 2016 Nov;110(4 Pt B):427-433. doi: 10.1016/j.jphysparis.2017.08.001.

BAR C, DIENE G, MOLINAS C, BIETH E, CASPER C, TAUBER M.
Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome. Orphanet J Rare Dis. 2017 Jun 28;12(1):118. doi: 10.1186/s13023-017-0673-6.

TAUBER M, BOULANOUAR K, DIENE G, ÇABAL-BERTHOUMIEU S, EHLINGER V, FICHAUX-BOURIN P, MOLINAS C, FAYE S, VALETTE M, POURRINET J, CESSANS C, VIAUX-SAUVELON S, BASCOUL C, GUEDENEY A, DELHANTY P, GEENEN V, MARTENS H, MUSCATELLI F, COHEN D, CONSOLI A, PAYOUX P, ARNAUD C, SALLES JP.
The Use of Oxytocin to Improve Feeding and Social Skills in Infants With Prader-Willi Syndrome. Pediatrics. 2017 Feb;139(2). pii: e20162976. doi:10.1542/peds.2016-2976.

COUPAYE M, TAUBER M, CUISSET L, LAURIER V, BIETH E, LACORTE JM, OPPERT JM, CLÉMENT K, POITOU C.
Effect of Genotype and Previous GH Treatment on Adiposity in Adults With Prader-Willi Syndrome. J Clin Endocrinol Metab. 2016 Dec;101(12):4895-4903.

SALLES J, STRELNIKOV K, MANTOULAN C, THUILLEAUX D, LAURIER V, MOLINAS C, TAUBER M, BARONE P.
Deficits in voice and multisensory processing in patients with Prader-Willi syndrome. Neuropsychologia. 2016 Mar 16;85:137-147.

CESSANS C, EHLINGER V, ARNAUD C, YART A, CAPRI Y, BARAT P, CAMMAS B, LACOMBE D, COUTANT R, DAVID A, BARON S, WEILL J, LEHEUP B, NICOLINO M, SALLES JP, VERLOES A, TAUBER M, CAVÉ H, EDOUARD T.
Growth patterns of patients with Noonan syndrome: correlation with age and genotype. Eur J Endocrinol. 2016 Feb 22.

MEZIANE H, SCHALLER F, BAUER S, VILLARD C, MATARAZZO V, RIET F, GUILLON G, LAFITTE D, DESARMENIEN MG, TAUBER M, MUSCATELLI F.
An Early Postnatal Oxytocin Treatment Prevents Social and Learning Deficits in Adult Mice Deficient for Magel2, a Gene Involved in Prader-Willi Syndrome and Autism. Biol Psychiatry. 2015 Jul 15;78(2):85-94.

LAURIER V, LAPEYRADE A, COPET P, DEMEER G, SILVIE M, BIETH E, COUPAYE M, POITOU C, LORENZINI F, LABROUSSE F, MOLINAS C, TAUBER M, THUILLEAUX D, JAUREGI J.
Medical, psychological and social features in a large cohort of adults with Prader-Willi syndrome: experience from a dedicated centre in France. J Intellect Disabil Res. 2015 May;59(5):411-21.

BIETH E, EDDIRY S, GASTON V, LORENZINI F, BUFFET A, CONTE AURIOL F, MOLINAS C, CAILLEY D, ROORYCK C, ARVEILER B, CAVAILLÉ J, SALLES JP, TAUBER M.
Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome. Eur J Hum Genet. 2015 Feb;23(2):252-5.

JAUREGI J, LAURIER V, COPET P, TAUBER M, THUILLEAUX D.
Behavioral profile of adults with Prader-Willi syndrome: correlations with individual and environmental variables. J Neurodev Disord. 2013 Aug 6;5(1):18.

COUPAYE M, LORENZINI F, LLORET-LINARES C, MOLINAS C, PINTO G, DIENE G, MIMOUN E, DEMEER G, LABROUSSE F, JAUREGI J, LAURIER V, BASDEVANT A, POLAK M, THUILLEAUX D, TAUBER M, POITOU C.
Growth hormone therapy for children and adolescents with Prader-Willi syndrome is associated with improved body composition and metabolic status in adulthood. J Clin Endocrinol Metab. 2013 Feb;98(2):E328-35.

TAUBER M, MANTOULAN C, COPET P, JAUREGUI J, DEMEER G, DIENE G, ROGÉ B, LAURIER V, EHLINGER V, ARNAUD C, MOLINAS C, THUILLEAUX D.
Oxytocin may be useful to increase trust in others and decrease disruptive behaviours in patients with Prader-Willi syndrome: a randomised placebo-controlled trial in 24 patients. Orphanet J Rare Dis. 2011 Jun 24;6:47.

MANTOULAN C, PAYOUX P, DIENE G, GLATTARD M, ROGÉ B, MOLINAS C, SEVELY A, ZILBOVICIUS M, CELSIS P, TAUBER M.
PET scan perfusion imaging in the Prader-Willi syndrome: new insights into the psychiatric and social disturbances. J Cereb Blood Flow Metab. 2011 Jan;31(1):275-82.

VUILLAUME ML, NAUDION S, BANNEAU G, DIENE G, CARTAULT A, CAILLEY D, BOURON J, TOUTAIN J, BOURROUILLOU G, VIGOUROUX A, BOUNEAU L, NACKA F, KIEFFER I, ARVEILER B, KNOLL-GELLIDA A, BABIN PJ, BIETH E, JOURET B, JULIA S, SARDA P, GENEVIEVE D, FAIVRE L, LACOMBE D, BARAT P, TAUBER M, DELRUE MA, ROORYCK C
New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity. Am J Med Genet A. 2014 Aug;164A(8):1965-75..

COPET P, JAUREGI J, LAURIER V, EHLINGER V, ARNAUD C, COBO AM, MOLINAS C, TAUBER M, THUILLEAUX D.
Cognitive profile in a large French cohort of adults with Prader-Willi syndrome: differences between genotypes. J Intellect Disabil Res. 2010 Mar;54(3):204-15.

VALENCE S, GAREL C, BARTH M, TOUTAIN A, PARIS C, AMSALLEM D, BARTHEZ MA, MAYER M, RODRIGUEZ D, BURGLEN L.
RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes. Clin Genet. 2016 Mar 22.

LAMBACHER NJ, BRUEL AL, VAN DAM TJ, SZYMAŃSKA K, SLAATS GG, KUHNS S, MCMANUS, GJ, KENNEDY JE, GAFF K, WU KM, VAN DER LEE R, BURGLEN L, DOUMMAR D, RIVIÈRE JB, FAIVRE L, ATTIÉ-BITACH T, SAUNIER S, CURD A, PECKHAM M, GILES RH, JOHNSON CA, HUYNEN MA, THAUVIN-ROBINET C, BLACQUE OE.
TMEM107 Recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. Nat Cell Biol. 2016 Jan;18(1):122-31.

CHEVRIER V, BRUEL AL, VAN DAM TJ, FRANCO B, LO SCALZO M, LEMBO F, AUDEBERT S, BAUDELET E, ISNARDON D, BOLE A, BORG JP, KUENTZ P, THEVENON J, BURGLEN L, FAIVRE L, RIVIÈRE JB, HUYNEN MA, BIRNBAUM D, ROSNET O, THAUVIN-ROBINET C.
OFIP/KIAA0753. Forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome. Hum Mol Genet. 2015 Dec 7. .

PILLIOD J, MOUTTON S, LAVIE J, MAURAT E, HUBERT C, BELLANCE N, ANHEIM M, FORLANI S, MOCHEL F, N’GUYEN K, THAUVIN-ROBINET C, VERNY C, MILEA D, LESCA G, KOENIG M, RODRIGUEZ D, HOUCINAT N, VAN-GILS J, DURAND CM, GUICHET A, BARTH M, BONNEAU D, CONVERS P, MAILLART E, GUYANT-MARECHAL L, HANNEQUIN D, FROMAGER G, AFENJAR A, CHANTOT-BASTARAUD S, VALENCE S, CHARLES P, BERQUIN P, ROORYCK C, BOURON J, BRICE A, LACOMBE D, ROSSIGNOL R, STEVANIN G, BENARD G, BURGLEN L, DURR A, GOIZET C, COUPRY I.
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. Ann Neurol. 2015 Dec;78(6):871-86.

DOUMMAR D, MIGNOT C, APARTIS E, VILLARD L, RODRIGUEZ D, CHANTOT-BASTAURAUD S, BURGLEN L. A NOVEL HOMOZYGOUS
TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement. Mov Disord. 2015 Sep;30(10):1431-2.

COUTELIER M, BURGLEN L, MUNDWILLER E, ABADA-BENDIB M, RODRIGUEZ D, CHANTOT-BASTARAUD S, ROUGEOT C, COURNELLE MA, MILH M, TOUTAIN A, BACQ D, MEYER V, AFENJAR A, DELEUZE JF, BRICE A, HÉRON D, STEVANIN G, DURR A.
GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia. Neurology. 2015 Apr28;84(17):1751-9.

THOMAS S, WRIGHT KJ, LE CORRE S, MICALIZZI A, ROMANI M, ABHYANKAR A, SAADA J, PERRAULT I, AMIEL J, LITZLER J, FILHOL E, ELKHARTOUFI N, KWONG M, CASANOVA JL, BODDAERT N, BAEHR W, LYONNET S, MUNNICH A, BURGLEN L, CHASSAING N, ENCHA-RAVAZI F, VEKEMANS M, GLEESON JG, VALENTE EM, JACKSON PK, DRUMMOND IA, SAUNIER S, ATTIÉ-BITACH T.
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. Hum Mutat. 2014 Jan;35(1):137-46.

MIGNOT C, HÉRON D, BURSZTYN J, MOMTCHILOVA M, MAYER M, WHALEN S, LEGALL A, BILLETTE DE VILLEMEUR T, BURGLEN L.
Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum. Brain Dev. 2013 Feb;35(2):172-6.

BURGLEN L, CHANTOT-BASTARAUD S, GAREL C, MILH M, TOURAINE R, ZANNI G, PETIT F, AFENJAR A, GOIZET C, BARRESI S, COUSSEMENT A, IOOS C, LAZARO L, JORIOT S, DESGUERRE I, LACOMBE D, DES PORTES V, BERTINI E, SIFFROI JP, DE VILLEMEUR TB, RODRIGUEZ D.
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient. Orphanet J Rare Dis. 2012 Mar 27;7:18. .

GATAULLINA S, LEMAIRE E, WENDLING F, KAMINSKA A, WATRIN F, RIQUET A, VILLE D, MOUTARD ML, DE SAINT MARTIN A, NAPURI S, PEDESPAN JM, EISERMANN M, BAHI-BUISSON N, NABBOUT R, CHIRON C, DULAC O, HUBERFELD G.
Epilepsy in young Tsc1(+/-) mice exhibits age-dependent expression that mimics that of human tuberous sclerosis complex. Epilepsia. 2016 Apr;57(4):648-59.

NAVA C, DALLE C, RASTETTER A, STRIANO P, DE KOVEL CG, NABBOUT R, CANCÈS C, VILLE D, BRILSTRA EH, GOBBI G, RAFFO E, BOUTEILLER D, MARIE Y, TROUILLARD O, ROBBIANO A, KEREN B, AGHER D, ROZE E, LESAGE S, NICOLAS A, BRICE A, BAULAC M, VOGT C, EL HAJJ N, SCHNEIDER E, SULS A, WECKHUYSEN S, GORMLEY P, LEHESJOKI AE, DE JONGHE P, HELBIG I, BAULAC S, ZARA F, KOELEMAN BP; EUROEPINOMICS RES CONSORTIUM, HAAF T, LEGUERN E, DEPIENNE C.
De novo mutations in HCN1 cause early infantile epileptic encephalopathy. Nat Genet. 2014 Jun;46(6):640-5.

ZHANG X, LING J, BARCIA G, JING L, WU J, BARRY BJ, MOCHIDA GH, HILL RS, WEIMER JM, STEIN Q, PODURI A, PARTLOW JN, VILLE D, DULAC O, YU TW, LAM AT, SERVATTALAB S, RODRIGUEZ J, BODDAERT N, MUNNICH A, COLLEAUX L, ZON LI, SÖLL D, WALSH CA, NABBOUT R.
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am J Hum Genet. 2014 Apr 3;94(4):547-58. .

NIZON M, ANDRIEUX J, ROORYCK C, DE BLOIS MC, BOUREL-PONCHEL E, BOURGOIS B, BOUTE O, DAVID A, DELOBEL B, DUBAN-BEDU B, GIULIANO F, GOLDENBERG A, GROTTO S, HÉRON D, KARMOUS-BENAILLY H, KEREN B, LACOMBE D, LAPIERRE JM, LE CAIGNEC C, LE GALLOUDEC E, LE MERRER M, LE MOING AG, MATHIEU-DRAMARD M, NUSBAUM S, PICHON O, PINSON L, RAOUL O, RIO M, ROMANA S, ROUBERTIE A, COLLEAUX L, TURLEAU C, VEKEMANS M, NABBOUT R, MALAN V.
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature. Am J Med Genet A. 2015 Jan;167A(1):111-22. .

CURIE A, BRUN A, CHEYLUS A, REBOUL A, NAZIR T, BUSSY G, DELANGE K, PAULIGNAN Y, MERCIER S, DAVID A, MARIGNIER S, MERLE L, DE FREMINVILLE B, PRIEUR F, TILL M, MORTEMOUSQUE I, TOUTAIN A, BIETH E, TOURAINE R, SANLAVILLE D, CHELLY J, KONG J, OTT D, KASSAI B, HADJIKHANI N, GOLLUB RL, DES PORTES V.
A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients. PLoS One. 2016 Feb 26;11(2):e0149717.

BERRY-KRAVIS E, DES PORTES V, HAGERMAN R, JACQUEMONT S, CHARLES P, VISOOTSAK J, BRINKMAN M, RERAT K, KOUMARAS B, ZHU L, BARTH GM, JAECKLIN T, APOSTOL G, VON RAISON F.
Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials. Sci Transl Med. 2016 Jan 13;8(321):321ra5.

ALFAIZ AA, MÜLLER V, BOUTRY-KRYZA N, VILLE D, GUEX N, DE BELLESCIZE J, RIVIER C, LABALME A, DES PORTES V, EDERY P, TILL M, XENARIOS I, SANLAVILLE D, HERRMANN JM, LESCA G, REYMOND A.
West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1. Eur J Hum Genet. 2015 Oct 21.

CHEVREUL K, BERG BRIGHAM K, BRUNN M, DES PORTES V;
Fragile X syndrome: economic burden and health-related quality of life of patients and caregivers in France. J Intellect Disabil Res. 2015 Dec;59(12):1108-20.

POISSON A, NICOLAS A, COCHAT P, SANLAVILLE D, RIGARD C, DE LEERSNYDER H, FRANCO P, DES PORTES V, EDERY P, DEMILY C.
Behavioral disturbance and treatment strategies in Smith-Magenis syndrome. Orphanet J Rare Dis. 2015 Sep 4;10:111.

CURIE A, YANG K, KIRSCH I, GOLLUB RL, DES PORTES V, KAPTCHUK TJ, JENSEN KB.
Placebo Responses in Genetically Determined Intellectual Disability: A Meta-Analysis. PLoS One. 2015 Jul 30;10(7):e0133316.

POISSON A, NICOLAS A, SANLAVILLE D, COCHAT P, DE LEERSNYDER H, RIGARD C, FRANCO P, DES PORTES V, EDERY P, DEMILY C.
Smith -Magenis syndrome is an association of behavioral and sleep/wake circadian rhythm disorders]. Arch Pediatr. 2015 Jun;22(6):638-45.

CURIE A, NAZIR T, BRUN A, PAULIGNAN Y, REBOUL A, DELANGE K, CHEYLUS A, BERTRAND S, ROCHEFORT F, BUSSY G, MARIGNIER S, LACOMBE D, CHIRON C, COSSÉE M, LEHEUP B, PHILIPPE C, LAUGEL V, DE SAINT MARTIN A, SACCO S, POIRIER K, BIENVENU T, SOUVILLE I, GILBERT-DUSSARDIER B, BIETH E, KAUFFMANN D, BRIOT P, DE FRÉMINVILLE B, PRIEUR F, TILL M, ROORYCK-THAMBO C, MORTEMOUSQUE I, BOBILLIER-CHAUMONT I, TOUTAIN A, TOURAINE R, SANLAVILLE D, CHELLY J, FREEMAN S, KONG J, HADJIKHANI N, GOLLUB RL, ROY A,DES PORTES V.
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia. Orphanet J Rare Dis. 2014 Feb 14;9:25.

LESCA G, MOIZARD MP, BUSSY G, BOGGIO D, HU H, HAAS SA, ROPERS HH, KALSCHEUER VM, DES PORTESV, LABALME A, SANLAVILLE D, EDERY P, RAYNAUD M, LESPINASSE J.
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. Am J Med Genet A. 2013 Dec;161A(12):3063-71.

BEBY F, DES PORTES V, TILL M, MOTTOLESE C, DENIS P.
Chromosome 6p25 deletion syndrome: report of a case with optic disc coloboma and review of published ophthalmic findings. Ophthalmic Genet. 2012 Dec;33(4):240-8.

BUSSY G, CHARRIN E, BRUN A, CURIE A, DES PORTES V.
Implicit procedural learning in fragile X and Down syndrome. J Intellect Disabil Res. 2011 May;55(5):521-8.

MIGNOT C, VON STÜLPNAGEL C, NAVA C, VILLE D, SANLAVILLE D, LESCA G, RASTETTER A, GACHET B, MARIE Y, KORENKE GC, BORGGRAEFE I, HOFFMANN-ZACHARSKA D, SZCZEPANIK E, RUDZKA-DYBAŁA M, YIŞ U, ÇAĞLAYAN H, ISAPOF A, MAREY I, PANAGIOTAKAKI E, KORFF C, ROSSIER E, RIESS A, BECK-WOEDL S, RAUCH A, ZWEIER C, HOYER J, REIS A, MIRONOV M, BOBYLOVA M, MUKHIN K, HERNANDEZ-HERNANDEZ L, MAHER B, SISODIYA S, KUHN M, GLAESER D, WECHUYSEN S, MYERS CT, MEFFORD HC, HÖRTNAGEL K, BISKUP S; EUROEPINOMICS-RES MAE WORKING GROUP, LEMKE JR, HÉRON D, KLUGER G, DEPIENNE C.
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. J Med Genet. 2016 Mar 17. pii: jmedgenet-2015-103451.

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