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Items: 1 to 50 of 115

1.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

Tatton-Brown K, Zachariou A, Loveday C, Renwick A, Mahamdallie S, Aksglaede L, Baralle D, Barge-Schaapveld D, Blyth M, Bouma M, Breckpot J, Crabb B, Dabir T, Cormier-Daire V, Fauth C, Fisher R, Gener B, Goudie D, Homfray T, Hunter M, Jorgensen A, Kant SG, Kirally-Borri C, Koolen D, Kumar A, Labilloy A, Lees M, Marcelis C, Mercer C, Mignot C, Miller K, Neas K, Newbury-Ecob R, Pilz DT, Posmyk R, Prada C, Ramsey K, Randolph LM, Selicorni A, Shears D, Suri M, Temple IK, Turnpenny P, Val Maldergem L, Varghese V, Veenstra-Knol HE, Yachelevich N, Yates L; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study; Deciphering Developmental Disorders (DDD) Study, Rahman N.

Wellcome Open Res. 2018 Apr 23;3:46. doi: 10.12688/wellcomeopenres.14430.1. eCollection 2018.

2.

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations.

Marzin P, Mignot C, Dorison N, Dufour L, Ville D, Kaminska A, Panagiotakaki E, Dienpendaele AS, Penniello MJ, Nougues MC, Keren B, Depienne C, Nava C, Milh M, Villard L, Richelme C, Rivier C, Whalen S, Heron D, Lesca G, Doummar D.

Brain Dev. 2018 May 31. pii: S0387-7604(18)30214-6. doi: 10.1016/j.braindev.2018.05.008. [Epub ahead of print]

PMID:
29861155
3.

NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder.

Lévy J, Grotto S, Mignot C, Dupont C, Delahaye A, Benzacken B, Keren B, Haye D, Xavier J, Heulin M, Charles E, Verloes A, Maruani A, Pipiras E, Tabet AC.

Clin Genet. 2018 May 16. doi: 10.1111/cge.13383. [Epub ahead of print]

PMID:
29770430
4.

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Smol T, Petit F, Piton A, Keren B, Sanlaville D, Afenjar A, Baker S, Bedoukian EC, Bhoj EJ, Bonneau D, Boudry-Labis E, Bouquillon S, Boute-Benejean O, Caumes R, Chatron N, Colson C, Coubes C, Coutton C, Devillard F, Dieux-Coeslier A, Doco-Fenzy M, Ewans LJ, Faivre L, Fassi E, Field M, Fournier C, Francannet C, Genevieve D, Giurgea I, Goldenberg A, Green AK, Guerrot AM, Heron D, Isidor B, Keena BA, Krock BL, Kuentz P, Lapi E, Le Meur N, Lesca G, Li D, Marey I, Mignot C, Nava C, Nesbitt A, Nicolas G, Roche-Lestienne C, Roscioli T, Satre V, Santani A, Stefanova M, Steinwall Larsen S, Saugier-Veber P, Picker-Minh S, Thuillier C, Verloes A, Vieville G, Wenzel M, Willems M, Whalen S, Zarate YA, Ziegler A, Manouvrier-Hanu S, Kalscheuer VM, Gerard B, Ghoumid J.

Neurogenetics. 2018 May;19(2):93-103. doi: 10.1007/s10048-018-0541-0. Epub 2018 Mar 6.

PMID:
29511999
5.

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.

Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, Afenjar A, Anheim M, Calvas P, Castelnovo G, de Broucker T, Vidailhet M, Moulignier A, Ghnassia RT, Tallaksen C, Mignot C, Goizet C, Le Ber I, Ollagnon-Roman E, Pouget J, Brice A, Singleton A, Durr A; Spastic Paraplegia and Ataxia Network.

JAMA Neurol. 2018 May 1;75(5):591-599. doi: 10.1001/jamaneurol.2017.5121.

PMID:
29482223
6.

Defining the phenotypic spectrum of SLC6A1 mutations.

Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL 2nd, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS.

Epilepsia. 2018 Feb;59(2):389-402. doi: 10.1111/epi.13986. Epub 2018 Jan 8.

PMID:
29315614
7.

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.

8.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL.

Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008.

9.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

Syrbe S, Harms FL, Parrini E, Montomoli M, Mütze U, Helbig KL, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne HO, Hoffmann GF, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke GC, Kuechler A, Lämmer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek NE, Møller RS, Koeleman B, Matsumoto N, Dobyns WB, Battaglia D, Lemke JR, Kutsche K, Guerrini R.

Brain. 2017 Sep 1;140(9):2322-2336. doi: 10.1093/brain/awx195.

PMID:
29050398
10.

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.

Schiff M, Roda C, Monin ML, Arion A, Barth M, Bednarek N, Bidet M, Bloch C, Boddaert N, Borgel D, Brassier A, Brice A, Bruneel A, Buissonnière R, Chabrol B, Chevalier MC, Cormier-Daire V, De Barace C, De Maistre E, De Saint-Martin A, Dorison N, Drouin-Garraud V, Dupré T, Echenne B, Edery P, Feillet F, Fontan I, Francannet C, Labarthe F, Gitiaux C, Héron D, Hully M, Lamoureux S, Martin-Coignard D, Mignot C, Morin G, Pascreau T, Pincemaille O, Polak M, Roubertie A, Thauvin-Robinet C, Toutain A, Viot G, Vuillaumier-Barrot S, Seta N, De Lonlay P.

J Med Genet. 2017 Dec;54(12):843-851. doi: 10.1136/jmedgenet-2017-104903. Epub 2017 Sep 27.

PMID:
28954837
11.

Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.

Edvardson S, Nicolae CM, Agrawal PB, Mignot C, Payne K, Prasad AN, Prasad C, Sadler L, Nava C, Mullen TE, Begtrup A, Baskin B, Powis Z, Shaag A, Keren B, Moldovan GL, Elpeleg O.

Am J Hum Genet. 2017 Aug 3;101(2):267-273. doi: 10.1016/j.ajhg.2017.07.002.

12.

Prevalence of primary immunodeficiencies in France is underestimated.

Mahlaoui N, Jais JP, Brosselin P, Mignot C, Beaurain B, Brito C, Costes L, Courteille V, De Vergnes N, Alcaïs A, Fischer A; CEREDIH Prevalence Study Collaborators.

J Allergy Clin Immunol. 2017 Dec;140(6):1731-1733. doi: 10.1016/j.jaci.2017.06.020. Epub 2017 Jul 18. No abstract available.

PMID:
28732644
13.

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.

Chérot E, Keren B, Dubourg C, Carré W, Fradin M, Lavillaureix A, Afenjar A, Burglen L, Whalen S, Charles P, Marey I, Heide S, Jacquette A, Heron D, Doummar D, Rodriguez D, Billette de Villemeur T, Moutard ML, Guët A, Xavier J, Périsse D, Cohen D, Demurger F, Quélin C, Depienne C, Odent S, Nava C, David V, Pasquier L, Mignot C.

Clin Genet. 2018 Mar;93(3):567-576. doi: 10.1111/cge.13102. Epub 2017 Oct 4.

PMID:
28708303
14.

Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious Blindness.

Cravero C, Guinchat V, Xavier J, Meunier C, Diaz L, Mignot C, Doummar D, Chantot-Bastaraud S, Consoli A, Cohen D.

Case Rep Psychiatry. 2017;2017:7582780. doi: 10.1155/2017/7582780. Epub 2017 May 25.

15.

Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions.

Mathieu ML, Demily C, Chantot-Bastaraud S, Afenjar A, Mignot C, Andrieux J, Gerard M, Catala-Mora J, Jouk PS, Labalme A, Edery P, Sanlaville D, Rossi M.

Am J Med Genet A. 2017 Aug;173(8):2268-2274. doi: 10.1002/ajmg.a.38307. Epub 2017 Jun 9.

PMID:
28599093
16.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS.

Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054.

PMID:
28379373
17.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR.

J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4.

18.

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.

Heide S, Keren B, Billette de Villemeur T, Chantot-Bastaraud S, Depienne C, Nava C, Mignot C, Jacquette A, Fonteneau E, Lejeune E, Mach C, Marey I, Whalen S, Lacombe D, Naudion S, Rooryck C, Toutain A, Caignec CL, Haye D, Olivier-Faivre L, Masurel-Paulet A, Thauvin-Robinet C, Lesne F, Faudet A, Ville D, des Portes V, Sanlaville D, Siffroi JP, Moutard ML, Héron D.

J Pediatr. 2017 Jun;185:160-166.e1. doi: 10.1016/j.jpeds.2017.02.023. Epub 2017 Mar 8.

PMID:
28284480
19.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue MA, Le Caignec C, Vincent M, Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G; DDD Study, Attié-Bitach T, Boutaud L, Héron D, Mignot C.

Hum Genet. 2017 Apr;136(4):463-479. doi: 10.1007/s00439-017-1772-0. Epub 2017 Mar 10.

20.

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.

Marsh AP, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, Guegan J, Heide S, Keren B, Lesne F, Lukic V, Mandelstam SA, McGillivray G, McIlroy A, Méneret A, Mignot C, Morcom LR, Odent S, Paolino A, Pope K, Riant F, Robinson GA, Spencer-Smith M, Srour M, Stephenson SE, Tankard R, Trouillard O, Welniarz Q, Wood A, Brice A, Rouleau G, Attié-Bitach T, Delatycki MB, Mandel JL, Amor DJ, Roze E, Piton A, Bahlo M, Billette de Villemeur T, Sherr EH, Leventer RJ, Richards LJ, Lockhart PJ, Depienne C.

Nat Genet. 2017 Apr;49(4):511-514. doi: 10.1038/ng.3794. Epub 2017 Feb 27.

21.

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Kuentz P, St-Onge J, Duffourd Y, Courcet JB, Carmignac V, Jouan T, Sorlin A, Abasq-Thomas C, Albuisson J, Amiel J, Amram D, Arpin S, Attie-Bitach T, Bahi-Buisson N, Barbarot S, Baujat G, Bessis D, Boccara O, Bonnière M, Boute O, Bursztejn AC, Chiaverini C, Cormier-Daire V, Coubes C, Delobel B, Edery P, Chehadeh SE, Francannet C, Geneviève D, Goldenberg A, Haye D, Isidor B, Jacquemont ML, Khau Van Kien P, Lacombe D, Martin L, Martinovic J, Maruani A, Mathieu-Dramard M, Mazereeuw-Hautier J, Michot C, Mignot C, Miquel J, Morice-Picard F, Petit F, Phan A, Rossi M, Touraine R, Verloes A, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Lehalle D, Thevenon J, Thauvin-Robinet C, Hadj-Rabia S, Faivre L, Vabres P, Rivière JB.

Genet Med. 2017 Sep;19(9):989-997. doi: 10.1038/gim.2016.220. Epub 2017 Feb 2.

PMID:
28151489
22.

How to Assess Data Availability, Accessibility and Format for Risk Analysis?

Humblet MF, Vandeputte S, Mignot C, Bellet C, De Koeijer A, Swanenburg M, Afonso A, Sanaa M, Saegerman C.

Transbound Emerg Dis. 2016 Dec;63(6):e173-e186. doi: 10.1111/tbed.12328. Epub 2015 Feb 5.

PMID:
25655676
23.

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.

Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, Capri Y, Coutton C, Delahaye-Duriez A, Frebourg T, Gatinois V, Guerrot AM, Genevieve D, Lecoquierre F, Jacquette A, Khau Van Kien P, Leheup B, Marlin S, Verloes A, Michaud V, Nadeau G, Mignot C, Parent P, Rossi M, Toutain A, Schaefer E, Thauvin-Robinet C, Van Maldergem L, Thevenon J, Satre V, Perrin L, Vincent-Delorme C, Sorlin A, Missirian C, Villard L, Mancini J, Saugier-Veber P, Philip N.

Am J Med Genet A. 2016 Nov;170(11):2847-2859. doi: 10.1002/ajmg.a.37878. Epub 2016 Sep 8.

PMID:
27605097
24.

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

Mignot C, Moutard ML, Rastetter A, Boutaud L, Heide S, Billette T, Doummar D, Garel C, Afenjar A, Jacquette A, Lacombe D, Verloes A, Bole-Feysot C, Nitschké P, Masson C, Faudet A, Lesne F, Bienvenu T, Alby C, Attié-Bitach T, Depienne C, Nava C, Héron D.

Brain. 2016 Nov 1;139(11):e64. doi: 10.1093/brain/aww181. No abstract available.

PMID:
27474218
25.

A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.

Sabry S, Vuillaumier-Barrot S, Mintet E, Fasseu M, Valayannopoulos V, Héron D, Dorison N, Mignot C, Seta N, Chantret I, Dupré T, Moore SE.

Orphanet J Rare Dis. 2016 Jun 24;11(1):84. doi: 10.1186/s13023-016-0468-1.

26.

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.

Mallaret M, Renaud M, Redin C, Drouot N, Muller J, Severac F, Mandel JL, Hamza W, Benhassine T, Ali-Pacha L, Tazir M, Durr A, Monin ML, Mignot C, Charles P, Van Maldergem L, Chamard L, Thauvin-Robinet C, Laugel V, Burglen L, Calvas P, Fleury MC, Tranchant C, Anheim M, Koenig M.

J Neurol. 2016 Jul;263(7):1314-22. doi: 10.1007/s00415-016-8112-5. Epub 2016 May 3.

PMID:
27142713
27.

Don't forget the lyrics! Spatiotemporal dynamics of neural mechanisms spontaneously evoked by gaps of silence in familiar and newly learned songs.

Gabriel D, Wong TC, Nicolier M, Giustiniani J, Mignot C, Noiret N, Monnin J, Magnin E, Pazart L, Moulin T, Haffen E, Vandel P.

Neurobiol Learn Mem. 2016 Jul;132:18-28. doi: 10.1016/j.nlm.2016.04.011. Epub 2016 Apr 27.

PMID:
27131744
28.

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.

Picker-Minh S, Mignot C, Doummar D, Hashem M, Faqeih E, Josset P, Dubern B, Alkuraya FS, Kraemer N, Kaindl AM.

Orphanet J Rare Dis. 2016 Apr 29;11(1):52. doi: 10.1186/s13023-016-0433-z.

29.

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

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

Hum Mutat. 2016 Aug;37(8):755-64. doi: 10.1002/humu.23001. Epub 2016 May 4.

30.

Replicability and impact of statistics in the detection of neural responses of consciousness.

Gabriel D, Muzard E, Henriques J, Mignot C, Pazart L, André-Obadia N, Ortega JP, Moulin T.

Brain. 2016 Jun;139(Pt 6):e30. doi: 10.1093/brain/aww065. Epub 2016 Mar 26. No abstract available.

PMID:
27017188
31.

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

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, Weckhuysen S, Myers CT, Mefford HC, Hörtnagel K, Biskup S; EuroEPINOMICS-RES MAE working group, Lemke JR, Héron D, Kluger G, Depienne C.

J Med Genet. 2016 Aug;53(8):511-22. doi: 10.1136/jmedgenet-2015-103451. Epub 2016 Mar 17. Erratum in: J Med Genet. 2016 Oct;53(10):720.

PMID:
26989088
32.

Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency.

Pirot N, Crahes M, Adle-Biassette H, Soares A, Bucourt M, Boutron A, Carbillon L, Mignot C, Trestard L, Bekri S, Laquerrière A.

J Neuropathol Exp Neurol. 2016 Mar;75(3):227-38. doi: 10.1093/jnen/nlv022. Epub 2016 Feb 9.

PMID:
26865159
33.

Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia.

Kuentz P, Mignot C, St-Onge J, Duffourd Y, Bonniaud B, Faivre L, Rivière JB, Vabres P.

J Invest Dermatol. 2016 May;136(5):1060-2. doi: 10.1016/j.jid.2016.01.015. Epub 2016 Jan 29. No abstract available.

34.

The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.

Hippolyte L, Maillard AM, Rodriguez-Herreros B, Pain A, Martin-Brevet S, Ferrari C, Conus P, Macé A, Hadjikhani N, Metspalu A, Reigo A, Kolk A, Männik K, Barker M, Isidor B, Le Caignec C, Mignot C, Schneider L, Mottron L, Keren B, David A, Doco-Fenzy M, Gérard M, Bernier R, Goin-Kochel RP, Hanson E, Green Snyder L; 16p11.2 European Consortium, Simons Variation in Individuals Project Consortium, Ramus F, Beckmann JS, Draganski B, Reymond A, Jacquemont S.

Biol Psychiatry. 2016 Jul 15;80(2):129-139. doi: 10.1016/j.biopsych.2015.10.021. Epub 2015 Nov 10.

35.

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium.

JAMA Psychiatry. 2016 Jan;73(1):20-30. doi: 10.1001/jamapsychiatry.2015.2123.

36.

16p11.2 Locus modulates response to satiety before the onset of obesity.

Maillard AM, Hippolyte L, Rodriguez-Herreros B, Chawner SJ, Dremmel D, Agüera Z, Fagundo AB, Pain A, Martin-Brevet S, Hilbert A, Kurz S, Etienne R, Draganski B, Jimenez-Murcia S, Männik K, Metspalu A, Reigo A, Isidor B, Le Caignec C, David A, Mignot C, Keren B; 16p11.2 European Consortium, van den Bree MB, Munsch S, Fernandez-Aranda F, Beckmann JS, Reymond A, Jacquemont S.

Int J Obes (Lond). 2016 May;40(5):870-6. doi: 10.1038/ijo.2015.247. Epub 2015 Dec 1.

PMID:
26620891
37.

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

Chen DH, Méneret A, Friedman JR, Korvatska O, Gad A, Bonkowski ES, Stessman HA, Doummar D, Mignot C, Anheim M, Bernes S, Davis MY, Damon-Perrière N, Degos B, Grabli D, Gras D, Hisama FM, Mackenzie KM, Swanson PD, Tranchant C, Vidailhet M, Winesett S, Trouillard O, Amendola LM, Dorschner MO, Weiss M, Eichler EE, Torkamani A, Roze E, Bird TD, Raskind WH.

Neurology. 2015 Dec 8;85(23):2026-35. doi: 10.1212/WNL.0000000000002058. Epub 2015 Nov 4.

38.

Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

Dard R, Mignot C, Durr A, Lesca G, Sanlaville D, Roze E, Mochel F.

Dev Med Child Neurol. 2015 Dec;57(12):1183-6. doi: 10.1111/dmcn.12927. Epub 2015 Sep 23.

39.

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.

Fotiou E, Martin-Almedina S, Simpson MA, Lin S, Gordon K, Brice G, Atton G, Jeffery I, Rees DC, Mignot C, Vogt J, Homfray T, Snyder MP, Rockson SG, Jeffery S, Mortimer PS, Mansour S, Ostergaard P.

Nat Commun. 2015 Sep 3;6:8085. doi: 10.1038/ncomms9085.

40.

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.

Nava C, Rupp J, Boissel JP, Mignot C, Rastetter A, Amiet C, Jacquette A, Dupuits C, Bouteiller D, Keren B, Ruberg M, Faudet A, Doummar D, Philippe A, Périsse D, Laurent C, Lebrun N, Guillemot V, Chelly J, Cohen D, Héron D, Brice A, Closs EI, Depienne C.

Amino Acids. 2015 Dec;47(12):2647-58. doi: 10.1007/s00726-015-2057-3. Epub 2015 Jul 28.

41.

A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.

Doummar D, Mignot C, Apartis E, Villard L, Rodriguez D, Chantot-Bastauraud S, Burglen L.

Mov Disord. 2015 Sep;30(10):1431-2. doi: 10.1002/mds.26303. Epub 2015 Jul 24. No abstract available.

PMID:
26207815
42.

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

Dimassi S, Labalme A, Ville D, Calender A, Mignot C, Boutry-Kryza N, de Bellescize J, Rivier-Ringenbach C, Bourel-Ponchel E, Cheillan D, Simonet T, Maincent K, Rossi M, Till M, Mougou-Zerelli S, Edery P, Saad A, Heron D, des Portes V, Sanlaville D, Lesca G.

Clin Genet. 2016 Feb;89(2):198-204. doi: 10.1111/cge.12636. Epub 2015 Jul 30.

PMID:
26138355
43.

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels.

Abidi A, Devaux JJ, Molinari F, Alcaraz G, Michon FX, Sutera-Sardo J, Becq H, Lacoste C, Altuzarra C, Afenjar A, Mignot C, Doummar D, Isidor B, Guyen SN, Colin E, De La Vaissière S, Haye D, Trauffler A, Badens C, Prieur F, Lesca G, Villard L, Milh M, Aniksztejn L.

Neurobiol Dis. 2015 Aug;80:80-92. doi: 10.1016/j.nbd.2015.04.017. Epub 2015 May 22.

PMID:
26007637
44.

Systematic neonatal screening for severe combined immunodeficiency and severe T-cell lymphopenia: Analysis of cost-effectiveness based on French real field data.

Clément MC, Mahlaoui N, Mignot C, Le Bihan C, Rabetrano H, Hoang L, Neven B, Moshous D, Cavazzana M, Blanche S, Fischer A, Audrain M, Durand-Zaleski I.

J Allergy Clin Immunol. 2015 Jun;135(6):1589-93. doi: 10.1016/j.jaci.2015.02.004. Epub 2015 Apr 1.

PMID:
25840725
45.

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.

Jobling RK, Assoum M, Gakh O, Blaser S, Raiman JA, Mignot C, Roze E, Dürr A, Brice A, Lévy N, Prasad C, Paton T, Paterson AD, Roslin NM, Marshall CR, Desvignes JP, Roëckel-Trevisiol N, Scherer SW, Rouleau GA, Mégarbané A, Isaya G, Delague V, Yoon G.

Brain. 2015 Jun;138(Pt 6):1505-17. doi: 10.1093/brain/awv057. Epub 2015 Mar 25.

46.

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

Vincent M, Geneviève D, Ostertag A, Marlin S, Lacombe D, Martin-Coignard D, Coubes C, David A, Lyonnet S, Vilain C, Dieux-Coeslier A, Manouvrier S, Isidor B, Jacquemont ML, Julia S, Layet V, Naudion S, Odent S, Pasquier L, Pelras S, Philip N, Pierquin G, Prieur F, Aboussair N, Attie-Bitach T, Baujat G, Blanchet P, Blanchet C, Dollfus H, Doray B, Schaefer E, Edery P, Giuliano F, Goldenberg A, Goizet C, Guichet A, Herlin C, Lambert L, Leheup B, Martinovic J, Mercier S, Mignot C, Moutard ML, Perez MJ, Pinson L, Puechberty J, Willems M, Randrianaivo H, Szakszon K, Toutain A, Verloes A, Vigneron J, Sanchez E, Sarda P, Laplanche JL, Collet C.

Genet Med. 2016 Jan;18(1):49-56. doi: 10.1038/gim.2015.29. Epub 2015 Mar 19. Erratum in: Genet Med. 2015 Aug;17(8):686. Szaskon, Kateline [corrected to Szakszon, Kateline].

PMID:
25790162
47.

DYRK1A mutations in two unrelated patients.

Ruaud L, Mignot C, Guët A, Ohl C, Nava C, Héron D, Keren B, Depienne C, Benoit V, Maystadt I, Lederer D, Amsallem D, Piard J.

Eur J Med Genet. 2015 Mar;58(3):168-74. doi: 10.1016/j.ejmg.2014.12.014. Epub 2015 Jan 30.

PMID:
25641759
48.

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.

Monin ML, Mignot C, De Lonlay P, Héron B, Masurel A, Mathieu-Dramard M, Lenaerts C, Thauvin C, Gérard M, Roze E, Jacquette A, Charles P, de Baracé C, Drouin-Garraud V, Khau Van Kien P, Cormier-Daire V, Mayer M, Ogier H, Brice A, Seta N, Héron D.

Orphanet J Rare Dis. 2014 Dec 11;9:207. doi: 10.1186/s13023-014-0207-4.

49.

WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.

Mignot C, Lambert L, Pasquier L, Bienvenu T, Delahaye-Duriez A, Keren B, Lefranc J, Saunier A, Allou L, Roth V, Valduga M, Moustaïne A, Auvin S, Barrey C, Chantot-Bastaraud S, Lebrun N, Moutard ML, Nougues MC, Vermersch AI, Héron B, Pipiras E, Héron D, Olivier-Faivre L, Guéant JL, Jonveaux P, Philippe C.

J Med Genet. 2015 Jan;52(1):61-70. doi: 10.1136/jmedgenet-2014-102748. Epub 2014 Nov 19.

PMID:
25411445
50.

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

Thevenon J, Milh M, Feillet F, St-Onge J, Duffourd Y, Jugé C, Roubertie A, Héron D, Mignot C, Raffo E, Isidor B, Wahlen S, Sanlaville D, Villeneuve N, Darmency-Stamboul V, Toutain A, Lefebvre M, Chouchane M, Huet F, Lafon A, de Saint Martin A, Lesca G, El Chehadeh S, Thauvin-Robinet C, Masurel-Paulet A, Odent S, Villard L, Philippe C, Faivre L, Rivière JB.

Am J Hum Genet. 2014 Jul 3;95(1):113-20. doi: 10.1016/j.ajhg.2014.06.006.

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