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Items: 1 to 50 of 114

1.

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.

Frints SGM, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman HH, Hunt D, Mendelsohn BA, Kordaß U, Webster R, Sinnema M, Abdul-Rahman O, Suckow V; Deciphering Developmental Disorders (DDD) Study, Fernández-Jaén A, van Roozendaal K, Stevens SJC, Macville MVE, Al-Nasiry S, van Gassen K, Utzig N, Koudijs SM, McGregor L, Maas SM, Baralle D, Dixit A, Wieacker P, Lee M, Lee AS, Engle EC, Houge G, Gradek GA, Douglas AGL, Longman C, Joss S, Velasco D, Hennekam RC, Hirata H, Kalscheuer VM.

Hum Mutat. 2019 Jun 17. doi: 10.1002/humu.23841. [Epub ahead of print]

PMID:
31206972
2.

Tinkering with the vasopressin pathway in autism.

Forgeot d'Arc B, Mottron L, Elsabbagh M, Jacquemont S.

Sci Transl Med. 2019 May 8;11(491). pii: eaax7315. doi: 10.1126/scitranslmed.aax7315. Review.

PMID:
31068443
3.

Clinimetric Properties of the Fragile X-associated Tremor Ataxia Syndrome Rating Scale.

Hall DA, Stebbins GT, Jacquemont S, Berry-Kravis E, Goetz CG, Hagerman R, Zhang L, Leehey MA.

Mov Disord Clin Pract. 2019 Jan 22;6(2):120-124. doi: 10.1002/mdc3.12708. eCollection 2019 Feb.

PMID:
30838310
4.

Correction: Psychiatric disorders in children with 16p11.2 deletion and duplication.

Niarchou M, Chawner SJRA, Doherty JL, Maillard AM, Jacquemont S, Chung WK, Green-Snyder L, Bernier RA, Goin-Kochel RP, Hanson E, Linden DEJ, Linden SC, Raymond FL, Skuse D, Hall J, Owen MJ, van den Bree MBM.

Transl Psychiatry. 2019 Mar 5;9(1):107. doi: 10.1038/s41398-019-0441-6.

5.

Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.

Sønderby IE, Gústafsson Ó, Doan NT, Hibar DP, Martin-Brevet S, Abdellaoui A, Ames D, Amunts K, Andersson M, Armstrong NJ, Bernard M, Blackburn N, Blangero J, Boomsma DI, Bralten J, Brattbak HR, Brodaty H, Brouwer RM, Bülow R, Calhoun V, Caspers S, Cavalleri G, Chen CH, Cichon S, Ciufolini S, Corvin A, Crespo-Facorro B, Curran JE, Dale AM, Dalvie S, Dazzan P, de Geus EJC, de Zubicaray GI, de Zwarte SMC, Delanty N, den Braber A, Desrivières S, Donohoe G, Draganski B, Ehrlich S, Espeseth T, Fisher SE, Franke B, Frouin V, Fukunaga M, Gareau T, Glahn DC, Grabe H, Groenewold NA, Haavik J, Håberg A, Hashimoto R, Hehir-Kwa JY, Heinz A, Hillegers MHJ, Hoffmann P, Holleran L, Hottenga JJ, Hulshoff HE, Ikeda M, Jahanshad N, Jernigan T, Jockwitz C, Johansson S, Jonsdottir GA, Jönsson EG, Kahn R, Kaufmann T, Kelly S, Kikuchi M, Knowles EEM, Kolskår KK, Kwok JB, Hellard SL, Leu C, Liu J, Lundervold AJ, Lundervold A, Martin NG, Mather K, Mathias SR, McCormack M, McMahon KL, McRae A, Milaneschi Y, Moreau C, Morris D, Mothersill D, Mühleisen TW, Murray R, Nordvik JE, Nyberg L, Olde Loohuis LM, Ophoff R, Paus T, Pausova Z, Penninx B, Peralta JM, Pike B, Prieto C, Pudas S, Quinlan E, Quintana DS, Reinbold CS, Marques TR, Reymond A, Richard G, Rodriguez-Herreros B, Roiz-Santiañez R, Rokicki J, Rucker J, Sachdev P, Sanders AM, Sando SB, Schmaal L, Schofield PR, Schork AJ, Schumann G, Shin J, Shumskaya E, Sisodiya S, Steen VM, Stein DJ, Steinberg S, Strike L, Teumer A, Thalamuthu A, Tordesillas-Gutierrez D, Turner J, Ueland T, Uhlmann A, Ulfarsson MO, van 't Ent D, van der Meer D, van Haren NEM, Vaskinn A, Vassos E, Walters GB, Wang Y, Wen W, Whelan CD, Wittfeld K, Wright M, Yamamori H, Zayats T, Agartz I, Westlye LT, Jacquemont S, Djurovic S, Stefánsson H, Stefánsson K, Thompson P, Andreassen OA; 16p11.2 European Consortium, for the ENIGMA-CNV working group.

Mol Psychiatry. 2019 Jan 31. doi: 10.1038/s41380-019-0358-8. [Epub ahead of print]

PMID:
30705424
6.

Psychiatric disorders in children with 16p11.2 deletion and duplication.

Niarchou M, Chawner SJRA, Doherty JL, Maillard AM, Jacquemont S, Chung WK, Green-Snyder L, Bernier RA, Goin-Kochel RP, Hanson E, Linden DEJ, Linden SC, Raymond FL, Skuse D, Hall J, Owen MJ, Bree MBMVD.

Transl Psychiatry. 2019 Jan 16;9(1):8. doi: 10.1038/s41398-018-0339-8. Erratum in: Transl Psychiatry. 2019 Mar 5;9(1):107.

7.

Duplication of 10q24 locus: broadening the clinical and radiological spectrum.

Holder-Espinasse M, Jamsheer A, Escande F, Andrieux J, Petit F, Sowinska-Seidler A, Socha M, Jakubiuk-Tomaszuk A, Gerard M, Mathieu-Dramard M, Cormier-Daire V, Verloes A, Toutain A, Plessis G, Jonveaux P, Baumann C, David A, Farra C, Colin E, Jacquemont S, Rossi A, Mansour S, Ghali N, Moncla A, Lahiri N, Hurst J, Pollina E, Patch C, Ahn JW, Valat AS, Mezel A, Bourgeot P, Zhang D, Manouvrier-Hanu S.

Eur J Hum Genet. 2019 Apr;27(4):525-534. doi: 10.1038/s41431-018-0326-9. Epub 2019 Jan 8.

PMID:
30622331
8.

In-vivo probabilistic atlas of human thalamic nuclei based on diffusion- weighted magnetic resonance imaging.

Najdenovska E, Alemán-Gómez Y, Battistella G, Descoteaux M, Hagmann P, Jacquemont S, Maeder P, Thiran JP, Fornari E, Bach Cuadra M.

Sci Data. 2018 Nov 27;5:180270. doi: 10.1038/sdata.2018.270.

9.

Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents.

Hagerman R, Jacquemont S, Berry-Kravis E, Des Portes V, Stanfield A, Koumaras B, Rosenkranz G, Murgia A, Wolf C, Apostol G, von Raison F.

Sci Rep. 2018 Nov 19;8(1):16970. doi: 10.1038/s41598-018-34978-4.

10.

Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.

Sønderby IE, Gústafsson Ó, Doan NT, Hibar DP, Martin-Brevet S, Abdellaoui A, Ames D, Amunts K, Andersson M, Armstrong NJ, Bernard M, Blackburn N, Blangero J, Boomsma DI, Bralten J, Brattbak HR, Brodaty H, Brouwer RM, Bülow R, Calhoun V, Caspers S, Cavalleri G, Chen CH, Cichon S, Ciufolini S, Corvin A, Crespo-Facorro B, Curran JE, Dale AM, Dalvie S, Dazzan P, de Geus EJC, de Zubicaray GI, de Zwarte SMC, Delanty N, den Braber A, Desrivières S, Donohoe G, Draganski B, Ehrlich S, Espeseth T, Fisher SE, Franke B, Frouin V, Fukunaga M, Gareau T, Glahn DC, Grabe H, Groenewold NA, Haavik J, Håberg A, Hashimoto R, Hehir-Kwa JY, Heinz A, Hillegers MHJ, Hoffmann P, Holleran L, Hottenga JJ, Hulshoff HE, Ikeda M, Jahanshad N, Jernigan T, Jockwitz C, Johansson S, Jonsdottir GA, Jönsson EG, Kahn R, Kaufmann T, Kelly S, Kikuchi M, Knowles EEM, Kolskår KK, Kwok JB, Hellard SL, Leu C, Liu J, Lundervold AJ, Lundervold A, Martin NG, Mather K, Mathias SR, McCormack M, McMahon KL, McRae A, Milaneschi Y, Moreau C, Morris D, Mothersill D, Mühleisen TW, Murray R, Nordvik JE, Nyberg L, Olde Loohuis LM, Ophoff R, Paus T, Pausova Z, Penninx B, Peralta JM, Pike B, Prieto C, Pudas S, Quinlan E, Quintana DS, Reinbold CS, Marques TR, Reymond A, Richard G, Rodriguez-Herreros B, Roiz-Santiañez R, Rokicki J, Rucker J, Sachdev P, Sanders AM, Sando SB, Schmaal L, Schofield PR, Schork AJ, Schumann G, Shin J, Shumskaya E, Sisodiya S, Steen VM, Stein DJ, Steinberg S, Strike L, Teumer A, Thalamuthu A, Tordesillas-Gutierrez D, Turner J, Ueland T, Uhlmann A, Ulfarsson MO, van 't Ent D, van der Meer D, van Haren NEM, Vaskinn A, Vassos E, Walters GB, Wang Y, Wen W, Whelan CD, Wittfeld K, Wright M, Yamamori H, Zayats T, Agartz I, Westlye LT, Jacquemont S, Djurovic S, Stefánsson H, Stefánsson K, Thompson P, Andreassen OA; 16p11.2 European Consortium, for the ENIGMA-CNV working group.

Mol Psychiatry. 2018 Oct 3. doi: 10.1038/s41380-018-0118-1. [Epub ahead of print] Erratum in: Mol Psychiatry. 2019 Jan 31;:.

PMID:
30283035
11.

Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.

Jacquemont S, Pacini L, Jønch AE, Cencelli G, Rozenberg I, He Y, D'Andrea L, Pedini G, Eldeeb M, Willemsen R, Gasparini F, Tassone F, Hagerman R, Gomez-Mancilla B, Bagni C.

Hum Mol Genet. 2018 Nov 1;27(21):3825. doi: 10.1093/hmg/ddy291. No abstract available.

12.

The Canadian Partnership for Tomorrow Project: a pan-Canadian platform for research on chronic disease prevention.

Dummer TJB, Awadalla P, Boileau C, Craig C, Fortier I, Goel V, Hicks JMT, Jacquemont S, Knoppers BM, Le N, McDonald T, McLaughlin J, Mes-Masson AM, Nuyt AM, Palmer LJ, Parker L, Purdue M, Robson PJ, Spinelli JJ, Thompson D, Vena J, Zawati M; with the CPTP Regional Cohort Consortium.

CMAJ. 2018 Jun 11;190(23):E710-E717. doi: 10.1503/cmaj.170292.

13.

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.

Martin-Brevet S, Rodríguez-Herreros B, Nielsen JA, Moreau C, Modenato C, Maillard AM, Pain A, Richetin S, Jønch AE, Qureshi AY, Zürcher NR, Conus P; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium, Chung WK, Sherr EH, Spiro JE, Kherif F, Beckmann JS, Hadjikhani N, Reymond A, Buckner RL, Draganski B, Jacquemont S.

Biol Psychiatry. 2018 Aug 15;84(4):253-264. doi: 10.1016/j.biopsych.2018.02.1176. Epub 2018 Mar 27.

14.

Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.

Jacquemont S, Pacini L, Jønch AE, Cencelli G, Rozenberg I, He Y, D'Andrea L, Pedini G, Eldeeb M, Willemsen R, Gasparini F, Tassone F, Hagerman R, Gomez-Mancilla B, Bagni C.

Hum Mol Genet. 2018 Jun 15;27(12):2039-2051. doi: 10.1093/hmg/ddy099. Erratum in: Hum Mol Genet. 2018 Nov 1;27(21):3825.

15.

Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples.

Huguet G, Schramm C, Douard E, Jiang L, Labbe A, Tihy F, Mathonnet G, Nizard S, Lemyre E, Mathieu A, Poline JB, Loth E, Toro R, Schumann G, Conrod P, Pausova Z, Greenwood C, Paus T, Bourgeron T, Jacquemont S; IMAGEN Consortium.

JAMA Psychiatry. 2018 May 1;75(5):447-457. doi: 10.1001/jamapsychiatry.2018.0039.

16.

Auditory repetition suppression alterations in relation to cognitive functioning in fragile X syndrome: a combined EEG and machine learning approach.

Knoth IS, Lajnef T, Rigoulot S, Lacourse K, Vannasing P, Michaud JL, Jacquemont S, Major P, Jerbi K, Lippé S.

J Neurodev Disord. 2018 Jan 29;10(1):4. doi: 10.1186/s11689-018-9223-3.

17.

Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome.

Berry-Kravis EM, Lindemann L, Jønch AE, Apostol G, Bear MF, Carpenter RL, Crawley JN, Curie A, Des Portes V, Hossain F, Gasparini F, Gomez-Mancilla B, Hessl D, Loth E, Scharf SH, Wang PP, Von Raison F, Hagerman R, Spooren W, Jacquemont S.

Nat Rev Drug Discov. 2018 Apr;17(4):280-299. doi: 10.1038/nrd.2017.221. Epub 2017 Dec 8. Review.

PMID:
29217836
18.

The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.

Loviglio MN, Arbogast T, Jønch AE, Collins SC, Popadin K, Bonnet CS, Giannuzzi G, Maillard AM, Jacquemont S; 16p11.2 Consortium, Yalcin B, Katsanis N, Golzio C, Reymond A.

Am J Hum Genet. 2017 Oct 5;101(4):564-577. doi: 10.1016/j.ajhg.2017.08.016. Epub 2017 Sep 28.

19.

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.

Macé A, Tuke MA, Deelen P, Kristiansson K, Mattsson H, Nõukas M, Sapkota Y, Schick U, Porcu E, Rüeger S, McDaid AF, Porteous D, Winkler TW, Salvi E, Shrine N, Liu X, Ang WQ, Zhang W, Feitosa MF, Venturini C, van der Most PJ, Rosengren A, Wood AR, Beaumont RN, Jones SE, Ruth KS, Yaghootkar H, Tyrrell J, Havulinna AS, Boers H, Mägi R, Kriebel J, Müller-Nurasyid M, Perola M, Nieminen M, Lokki ML, Kähönen M, Viikari JS, Geller F, Lahti J, Palotie A, Koponen P, Lundqvist A, Rissanen H, Bottinger EP, Afaq S, Wojczynski MK, Lenzini P, Nolte IM, Sparsø T, Schupf N, Christensen K, Perls TT, Newman AB, Werge T, Snieder H, Spector TD, Chambers JC, Koskinen S, Melbye M, Raitakari OT, Lehtimäki T, Tobin MD, Wain LV, Sinisalo J, Peters A, Meitinger T, Martin NG, Wray NR, Montgomery GW, Medland SE, Swertz MA, Vartiainen E, Borodulin K, Männistö S, Murray A, Bochud M, Jacquemont S, Rivadeneira F, Hansen TF, Oldehinkel AJ, Mangino M, Province MA, Deloukas P, Kooner JS, Freathy RM, Pennell C, Feenstra B, Strachan DP, Lettre G, Hirschhorn J, Cusi D, Heid IM, Hayward C, Männik K, Beckmann JS, Loos RJF, Nyholt DR, Metspalu A, Eriksson JG, Weedon MN, Salomaa V, Franke L, Reymond A, Frayling TM, Kutalik Z.

Nat Commun. 2017 Sep 29;8(1):744. doi: 10.1038/s41467-017-00556-x.

20.

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

Le Gall J, Nizon M, Pichon O, Andrieux J, Audebert-Bellanger S, Baron S, Beneteau C, Bilan F, Boute O, Busa T, Cormier-Daire V, Ferec C, Fradin M, Gilbert-Dussardier B, Jaillard S, Jønch A, Martin-Coignard D, Mercier S, Moutton S, Rooryck C, Schaefer E, Vincent M, Sanlaville D, Le Caignec C, Jacquemont S, David A, Isidor B.

Eur J Hum Genet. 2017 Aug;25(8):930-934. doi: 10.1038/ejhg.2017.93. Epub 2017 Jun 14.

21.

Altered visual repetition suppression in Fragile X Syndrome: New evidence from ERPs and oscillatory activity.

Rigoulot S, Knoth IS, Lafontaine MP, Vannasing P, Major P, Jacquemont S, Michaud JL, Jerbi K, Lippé S.

Int J Dev Neurosci. 2017 Jun;59:52-59. doi: 10.1016/j.ijdevneu.2017.03.008. Epub 2017 Mar 19.

PMID:
28330777
22.

Robust thalamic nuclei segmentation method based on local diffusion magnetic resonance properties.

Battistella G, Najdenovska E, Maeder P, Ghazaleh N, Daducci A, Thiran JP, Jacquemont S, Tuleasca C, Levivier M, Bach Cuadra M, Fornari E.

Brain Struct Funct. 2017 Jul;222(5):2203-2216. doi: 10.1007/s00429-016-1336-4. Epub 2016 Nov 25.

23.

New quality measure for SNP array based CNV detection.

Macé A, Tuke MA, Beckmann JS, Lin L, Jacquemont S, Weedon MN, Reymond A, Kutalik Z.

Bioinformatics. 2016 Nov 1;32(21):3298-3305. Epub 2016 Jul 10.

PMID:
27402902
24.

Implication of LRRC4C and DPP6 in neurodevelopmental disorders.

Maussion G, Cruceanu C, Rosenfeld JA, Bell SC, Jollant F, Szatkiewicz J, Collins RL, Hanscom C, Kolobova I, de Champfleur NM, Blumenthal I, Chiang C, Ota V, Hultman C, O'Dushlaine C, McCarroll S, Alda M, Jacquemont S, Ordulu Z, Marshall CR, Carter MT, Shaffer LG, Sklar P, Girirajan S, Morton CC, Gusella JF, Turecki G, Stavropoulos DJ, Sullivan PF, Scherer SW, Talkowski ME, Ernst C.

Am J Med Genet A. 2017 Feb;173(2):395-406. doi: 10.1002/ajmg.a.38021. Epub 2016 Oct 19.

25.

Rationale, design, and methods for Canadian alliance for healthy hearts and minds cohort study (CAHHM) - a Pan Canadian cohort study.

Anand SS, Tu JV, Awadalla P, Black S, Boileau C, Busseuil D, Desai D, Després JP, de Souza RJ, Dummer T, Jacquemont S, Knoppers B, Larose E, Lear SA, Marcotte F, Moody AR, Parker L, Poirier P, Robson PJ, Smith EE, Spinelli JJ, Tardif JC, Teo KK, Tusevljak N, Friedrich MG; CAHHM Study Investigators.

BMC Public Health. 2016 Jul 27;16:650. doi: 10.1186/s12889-016-3310-8.

26.

Reporting incidental findings of genomic disorder-associated copy number variants to unselected biobank participants.

Leitsalu L, Alavere H, Jacquemont S, Kolk A, Maillard AM, Reigo A, Nõukas M, Reymond A, Männik K, Ng PC, Metspalu A.

Per Med. 2016 Jul;13(4):303-314. doi: 10.2217/pme-2016-0009. Epub 2016 Jun 14.

PMID:
29749813
27.

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.

Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM; 2p15 Consortium; 16p11.2 Consortium, Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A.

Mol Psychiatry. 2017 Jun;22(6):836-849. doi: 10.1038/mp.2016.84. Epub 2016 May 31.

28.

Reciprocal changes in DNA methylation and hydroxymethylation and a broad repressive epigenetic switch characterize FMR1 transcriptional silencing in fragile X syndrome.

Brasa S, Mueller A, Jacquemont S, Hahne F, Rozenberg I, Peters T, He Y, McCormack C, Gasparini F, Chibout SD, Grenet O, Moggs J, Gomez-Mancilla B, Terranova R.

Clin Epigenetics. 2016 Feb 5;8:15. doi: 10.1186/s13148-016-0181-x. eCollection 2016.

29.

Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials.

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.

Sci Transl Med. 2016 Jan 13;8(321):321ra5. doi: 10.1126/scitranslmed.aab4109.

PMID:
26764156
30.

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.

31.

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.

32.

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.

33.

Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

Lebrun N, Lebon S, Jeannet PY, Jacquemont S, Billuart P, Bienvenu T.

Am J Med Genet A. 2015 Dec;167A(12):3076-81. doi: 10.1002/ajmg.a.37364. Epub 2015 Sep 11.

PMID:
26358754
34.

Dysregulated ADAM10-Mediated Processing of APP during a Critical Time Window Leads to Synaptic Deficits in Fragile X Syndrome.

Pasciuto E, Ahmed T, Wahle T, Gardoni F, D'Andrea L, Pacini L, Jacquemont S, Tassone F, Balschun D, Dotti CG, Callaerts-Vegh Z, D'Hooge R, Müller UC, Di Luca M, De Strooper B, Bagni C.

Neuron. 2015 Jul 15;87(2):382-98. doi: 10.1016/j.neuron.2015.06.032. Erratum in: Neuron. 2015 Aug 19;87(4):908.

35.

Sex differences in brain plasticity: a new hypothesis for sex ratio bias in autism.

Mottron L, Duret P, Mueller S, Moore RD, Forgeot d'Arc B, Jacquemont S, Xiong L.

Mol Autism. 2015 Jun 5;6:33. doi: 10.1186/s13229-015-0024-1. eCollection 2015.

36.

Copy number variations and cognitive phenotypes in unselected populations.

Männik K, Mägi R, Macé A, Cole B, Guyatt AL, Shihab HA, Maillard AM, Alavere H, Kolk A, Reigo A, Mihailov E, Leitsalu L, Ferreira AM, Nõukas M, Teumer A, Salvi E, Cusi D, McGue M, Iacono WG, Gaunt TR, Beckmann JS, Jacquemont S, Kutalik Z, Pankratz N, Timpson N, Metspalu A, Reymond A.

JAMA. 2015 May 26;313(20):2044-54. doi: 10.1001/jama.2015.4845.

37.

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.

Migliavacca E, Golzio C, Männik K, Blumenthal I, Oh EC, Harewood L, Kosmicki JA, Loviglio MN, Giannuzzi G, Hippolyte L, Maillard AM, Alfaiz AA; 16p11.2 European Consortium, van Haelst MM, Andrieux J, Gusella JF, Daly MJ, Beckmann JS, Jacquemont S, Talkowski ME, Katsanis N, Reymond A.

Am J Hum Genet. 2015 May 7;96(5):784-96. doi: 10.1016/j.ajhg.2015.04.002. Epub 2015 Apr 30.

38.

The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.

Maillard AM, Ruef A, Pizzagalli F, Migliavacca E, Hippolyte L, Adaszewski S, Dukart J, Ferrari C, Conus P, Männik K, Zazhytska M, Siffredi V, Maeder P, Kutalik Z, Kherif F, Hadjikhani N, Beckmann JS, Reymond A, Draganski B, Jacquemont S; 16p11.2 European Consortium.

Mol Psychiatry. 2015 Feb;20(1):140-7. doi: 10.1038/mp.2014.145. Epub 2014 Nov 25.

39.

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.

Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; 16p11.2 European Consortium, Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; EPICURE Consortium; EuroEPINOMICS Consortium, Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA.

Hum Mol Genet. 2014 Nov 15;23(22):6069-80. doi: 10.1093/hmg/ddu306. Epub 2014 Jun 16.

PMID:
24939913
40.

Translating molecular advances in fragile X syndrome into therapy: a review.

Hagerman RJ, Des-Portes V, Gasparini F, Jacquemont S, Gomez-Mancilla B.

J Clin Psychiatry. 2014 Apr;75(4):e294-307. doi: 10.4088/JCP.13r08714. Review.

PMID:
24813413
41.

Investigation of memory, executive functions, and anatomic correlates in asymptomatic FMR1 premutation carriers.

Hippolyte L, Battistella G, Perrin AG, Fornari E, Cornish KM, Beckmann JS, Niederhauser J, Vingerhoets FJ, Draganski B, Maeder P, Jacquemont S.

Neurobiol Aging. 2014 Aug;35(8):1939-46. doi: 10.1016/j.neurobiolaging.2014.01.150. Epub 2014 Feb 5.

42.

A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.

Jacquemont S, Coe BP, Hersch M, Duyzend MH, Krumm N, Bergmann S, Beckmann JS, Rosenfeld JA, Eichler EE.

Am J Hum Genet. 2014 Mar 6;94(3):415-25. doi: 10.1016/j.ajhg.2014.02.001. Epub 2014 Feb 27.

43.

Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

Michot C, Le Goff C, Mahaut C, Afenjar A, Brooks AS, Campeau PM, Destree A, Di Rocco M, Donnai D, Hennekam R, Heron D, Jacquemont S, Kannu P, Lin AE, Manouvrier-Hanu S, Mansour S, Marlin S, McGowan R, Murphy H, Raas-Rothschild A, Rio M, Simon M, Stolte-Dijkstra I, Stone JR, Sznajer Y, Tolmie J, Touraine R, van den Ende J, Van der Aa N, van Essen T, Verloes A, Munnich A, Cormier-Daire V.

Eur J Hum Genet. 2014 Nov;22(11):1272-7. doi: 10.1038/ejhg.2013.288. Epub 2014 Jan 15. Erratum in: Eur J Hum Genet. 2014 Nov;22(11):1340.

44.

Development of mavoglurant and its potential for the treatment of fragile X syndrome.

Gomez-Mancilla B, Berry-Kravis E, Hagerman R, von Raison F, Apostol G, Ufer M, Gasparini F, Jacquemont S.

Expert Opin Investig Drugs. 2014 Jan;23(1):125-34. doi: 10.1517/13543784.2014.857400. Epub 2013 Nov 20. Review.

PMID:
24251408
45.

The challenges of clinical trials in fragile X syndrome.

Jacquemont S, Berry-Kravis E, Hagerman R, von Raison F, Gasparini F, Apostol G, Ufer M, Des Portes V, Gomez-Mancilla B.

Psychopharmacology (Berl). 2014 Mar;231(6):1237-50. doi: 10.1007/s00213-013-3289-0. Epub 2013 Oct 31. Review.

46.

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.

Dauber A, Golzio C, Guenot C, Jodelka FM, Kibaek M, Kjaergaard S, Leheup B, Martinet D, Nowaczyk MJ, Rosenfeld JA, Zeesman S, Zunich J, Beckmann JS, Hirschhorn JN, Hastings ML, Jacquemont S, Katsanis N.

Am J Hum Genet. 2013 Nov 7;93(5):798-811. doi: 10.1016/j.ajhg.2013.09.010. Epub 2013 Oct 17. Erratum in: Am J Hum Genet. 2013 Nov 7;93(5):994.

47.

Transmission disequilibrium of small CNVs in simplex autism.

Krumm N, O'Roak BJ, Karakoc E, Mohajeri K, Nelson B, Vives L, Jacquemont S, Munson J, Bernier R, Eichler EE.

Am J Hum Genet. 2013 Oct 3;93(4):595-606. doi: 10.1016/j.ajhg.2013.07.024. Epub 2013 Sep 12.

48.

Complete Maxillo-Mandibular Syngnathia in a Newborn with Multiple Congenital Malformations.

Broome M, Vial Y, Jacquemont S, Sergi C, Kamnasaran D, Giannoni E.

Pediatr Neonatol. 2016 Feb;57(1):65-8. doi: 10.1016/j.pedneo.2013.04.009. Epub 2013 Jun 15.

49.

The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation.

Valsesia A, Macé A, Jacquemont S, Beckmann JS, Kutalik Z.

Front Genet. 2013 May 30;4:92. doi: 10.3389/fgene.2013.00092. eCollection 2013.

50.

Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity.

Walters RG, Coin LJ, Ruokonen A, de Smith AJ, El-Sayed Moustafa JS, Jacquemont S, Elliott P, Esko T, Hartikainen AL, Laitinen J, Männik K, Martinet D, Meyre D, Nauck M, Schurmann C, Sladek R, Thorleifsson G, Thorsteinsdóttir U, Valsesia A, Waeber G, Zufferey F, Balkau B, Pattou F, Metspalu A, Völzke H, Vollenweider P, Stefansson K, Järvelin MR, Beckmann JS, Froguel P, Blakemore AI.

PLoS One. 2013;8(3):e58048. doi: 10.1371/journal.pone.0058048. Epub 2013 Mar 12.

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