Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 41

1.

Screening of novel restless legs syndrome-associated genes in French-Canadian families.

Akçimen F, Spiegelman D, Dionne-Laporte A, Gan-Or Z, Dion PA, Rouleau GA.

Neurol Genet. 2018 Dec 20;4(6):e296. doi: 10.1212/NXG.0000000000000296. eCollection 2018 Dec.

PMID:
30637332
2.

Whole exome sequencing identifies novel predisposing genes in neural tube defects.

Lemay P, De Marco P, Traverso M, Merello E, Dionne-Laporte A, Spiegelman D, Henrion É, Diallo O, Audibert F, Michaud JL, Cama A, Rouleau GA, Kibar Z, Capra V.

Mol Genet Genomic Med. 2018 Nov 10. doi: 10.1002/mgg3.467. [Epub ahead of print]

3.

Triple A syndrome presenting as complicated hereditary spastic paraplegia.

Leveille E, Gonorazky HD, Rioux MF, Hazrati LN, Ruskey JA, Carnevale A, Spiegelman D, Dionne-Laporte A, Rouleau GA, Yoon G, Gan-Or Z.

Mol Genet Genomic Med. 2018 Nov;6(6):1134-1139. doi: 10.1002/mgg3.492. Epub 2018 Oct 31.

4.

Exome sequencing of sporadic childhood-onset schizophrenia suggests the contribution of X-linked genes in males.

Ambalavanan A, Chaumette B, Zhou S, Xie P, He Q, Spiegelman D, Dionne-Laporte A, Bourassa CV, Therrien M, Rochefort D, Xiong L, Dion PA, Joober R, Rapoport JL, Girard SL, Rouleau GA.

Am J Med Genet B Neuropsychiatr Genet. 2018 Oct 30. doi: 10.1002/ajmg.b.32683. [Epub ahead of print]

PMID:
30378261
5.

Non-invasive prenatal aneuploidy testing: Critical diagnostic performance parameters predict sample z-score values.

Blais J, Giroux S, Caron A, Clément V, Dionne-Laporte A, Jouan L, Gauthier J, MacLeod T, Moore R, Parker J, Swanson L, Zhao Y, Rouleau G, Karsan A, Langlois S, Rousseau F.

Clin Biochem. 2018 Sep;59:69-77. doi: 10.1016/j.clinbiochem.2018.06.015. Epub 2018 Jun 27.

6.

Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia.

Chaumette B, Ferrafiat V, Ambalavanan A, Goldenberg A, Dionne-Laporte A, Spiegelman D, Dion PA, Gerardin P, Laurent C, Cohen D, Rapoport J, Rouleau GA.

Mol Psychiatry. 2018 Jun 12. doi: 10.1038/s41380-018-0103-8. [Epub ahead of print]

7.

Identification of a rare BMP pathway mutation in a non-syndromic human brain arteriovenous malformation via exome sequencing.

Walcott BP, Winkler EA, Zhou S, Birk H, Guo D, Koch MJ, Stapleton CJ, Spiegelman D, Dionne-Laporte A, Dion PA, Kahle KT, Rouleau GA, Lawton MT.

Hum Genome Var. 2018 Mar 8;5:18001. doi: 10.1038/hgv.2018.1. eCollection 2018.

8.

Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.

Lyahyai J, Bencheikh BOA, Elalaoui SC, Mansouri M, Boualla L, DIonne-Laporte A, Spiegelman D, Dion PA, Cossette P, Rouleau GA, Sefiani A.

BMC Pediatr. 2018 Apr 17;18(1):138. doi: 10.1186/s12887-018-1114-y.

9.

Global characterization of copy number variants in epilepsy patients from whole genome sequencing.

Monlong J, Girard SL, Meloche C, Cadieux-Dion M, Andrade DM, Lafreniere RG, Gravel M, Spiegelman D, Dionne-Laporte A, Boelman C, Hamdan FF, Michaud JL, Rouleau G, Minassian BA, Bourque G, Cossette P.

PLoS Genet. 2018 Apr 12;14(4):e1007285. doi: 10.1371/journal.pgen.1007285. eCollection 2018 Apr.

10.

Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population.

Zhou S, Gan-Or Z, Ambalavanan A, Lai D, Xie P, Bourassa CV, Strong S, Ross JP, Dionne-Laporte A, Spiegelman D, Dupré N, Foroud TM, Xiong L, Dion PA, Rouleau GA.

Sci Rep. 2018 Mar 12;8(1):4356. doi: 10.1038/s41598-018-21603-7.

11.

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.

Lyahyai J, Ouled Amar Bencheikh B, Elalaoui SC, Mansouri M, Boualla L, DIonne-Laporte A, Spiegelman D, Dion PA, Cossette P, Rouleau GA, Sefiani A.

BMC Pediatr. 2018 Feb 27;18(1):90. doi: 10.1186/s12887-018-1063-5. Erratum in: BMC Pediatr. 2018 Apr 17;18(1):138.

12.

Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma.

Rivera B, Di Iorio M, Frankum J, Nadaf J, Fahiminiya S, Arcand SL, Burk DL, Grapton D, Tomiak E, Hastings V, Hamel N, Wagener R, Aleynikova O, Giroux S, Hamdan FF, Dionne-Laporte A, Zogopoulos G, Rousseau F, Berghuis AM, Provencher D, Rouleau GA, Michaud JL, Mes-Masson AM, Majewski J, Bens S, Siebert R, Narod SA, Akbari MR, Lord CJ, Tonin PN, Orthwein A, Foulkes WD.

Cancer Res. 2017 Aug 15;77(16):4517-4529. doi: 10.1158/0008-5472.CAN-17-0190. Epub 2017 Jun 23.

13.

Rare deleterious variants in GRHL3 are associated with human spina bifida.

Lemay P, De Marco P, Emond A, Spiegelman D, Dionne-Laporte A, Laurent S, Merello E, Accogli A, Rouleau GA, Capra V, Kibar Z.

Hum Mutat. 2017 Jun;38(6):716-724. doi: 10.1002/humu.23214. Epub 2017 Mar 24.

PMID:
28276201
14.

RIC3 variants are not associated with Parkinson's disease in French-Canadians and French.

Ross JP, Dupré N, Dauvilliers Y, Strong S, Dionne-Laporte A, Dion PA, Rouleau GA, Gan-Or Z.

Neurobiol Aging. 2017 May;53:194.e9-194.e11. doi: 10.1016/j.neurobiolaging.2017.01.005. Epub 2017 Jan 11.

PMID:
28153381
15.

Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

Kariminejad A, Ajeawung NF, Bozorgmehr B, Dionne-Laporte A, Molidperee S, Najafi K, Gibbs RA, Lee BH, Hennekam RC, Campeau PM.

J Hum Genet. 2017 Apr;62(4):465-471. doi: 10.1038/jhg.2016.151. Epub 2016 Dec 22.

16.

RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population.

Zhou S, Ambalavanan A, Rochefort D, Xie P, Bourassa CV, Hince P, Dionne-Laporte A, Spiegelman D, Gan-Or Z, Mirarchi C, Zaharieva V, Dupré N, Kobayashi H, Hitomi T, Harada K, Koizumi A, Xiong L, Dion PA, Rouleau GA.

Am J Hum Genet. 2016 Nov 3;99(5):1072-1085. doi: 10.1016/j.ajhg.2016.09.001. Epub 2016 Oct 13.

17.

SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients.

Gama MT, Houle G, Noreau A, Dionne-Laporte A, Dion PA, Rouleau GA, Barsottini OG, Pedroso JL.

Mov Disord. 2016 Nov;31(11):1754-1756. doi: 10.1002/mds.26810. Epub 2016 Sep 27. No abstract available.

PMID:
27671794
18.

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

Gan-Or Z, Bouslam N, Birouk N, Lissouba A, Chambers DB, Vérièpe J, Androschuk A, Laurent SB, Rochefort D, Spiegelman D, Dionne-Laporte A, Szuto A, Liao M, Figlewicz DA, Bouhouche A, Benomar A, Yahyaoui M, Ouazzani R, Yoon G, Dupré N, Suchowersky O, Bolduc FV, Parker JA, Dion PA, Drapeau P, Rouleau GA, Ouled Amar Bencheikh B.

Am J Hum Genet. 2016 Jun 2;98(6):1271. doi: 10.1016/j.ajhg.2016.05.009. Epub 2016 Jun 2. No abstract available.

19.

Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease.

Ross JP, Dupre N, Dauvilliers Y, Strong S, Ambalavanan A, Spiegelman D, Dionne-Laporte A, Pourcher E, Langlois M, Boivin M, Leblond CS, Dion PA, Rouleau GA, Gan-Or Z.

Neurobiol Aging. 2016 Sep;45:212.e13-212.e17. doi: 10.1016/j.neurobiolaging.2016.04.023. Epub 2016 May 3.

20.

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

Gan-Or Z, Bouslam N, Birouk N, Lissouba A, Chambers DB, Vérièpe J, Androschuk A, Laurent SB, Rochefort D, Spiegelman D, Dionne-Laporte A, Szuto A, Liao M, Figlewicz DA, Bouhouche A, Benomar A, Yahyaoui M, Ouazzani R, Yoon G, Dupré N, Suchowersky O, Bolduc FV, Parker JA, Dion PA, Drapeau P, Rouleau GA, Ouled Amar Bencheikh B.

Am J Hum Genet. 2016 May 5;98(5):1038-1046. doi: 10.1016/j.ajhg.2016.04.002. Erratum in: Am J Hum Genet. 2016 Jun 2;98 (6):1271.

21.

Epistasis analysis links immune cascades and cerebral amyloidosis.

Benedet AL, Labbe A, Lemay P, Zimmer ER, Pascoal TA, Leuzy A, Mathotaarachchi S, Mohades S, Shin M, Dionne-Laporte A, Beaudry T, Picard C, Gauthier S, Poirier J, Rouleau G, Rosa-Neto P; Alzheimer’s Disease Neuroimaging Initiative.

J Neuroinflammation. 2015 Dec 1;12:227. doi: 10.1186/s12974-015-0436-z.

22.

De novo variants in sporadic cases of childhood onset schizophrenia.

Ambalavanan A, Girard SL, Ahn K, Zhou S, Dionne-Laporte A, Spiegelman D, Bourassa CV, Gauthier J, Hamdan FF, Xiong L, Dion PA, Joober R, Rapoport J, Rouleau GA.

Eur J Hum Genet. 2016 Jun;24(6):944-8. doi: 10.1038/ejhg.2015.218. Epub 2015 Oct 28.

23.

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis.

Leblond CS, Gan-Or Z, Spiegelman D, Laurent SB, Szuto A, Hodgkinson A, Dionne-Laporte A, Provencher P, de Carvalho M, Orrù S, Brunet D, Bouchard JP, Awadalla P, Dupré N, Dion PA, Rouleau GA.

Neurobiol Aging. 2016 Jan;37:209.e17-209.e21. doi: 10.1016/j.neurobiolaging.2015.09.013. Epub 2015 Sep 28.

PMID:
26493020
24.

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Décarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C; Care4Rare Canada Consortium, Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL.

Am J Hum Genet. 2015 Nov 5;97(5):744-53. doi: 10.1016/j.ajhg.2015.09.009. Epub 2015 Oct 17.

25.

Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia.

Daoud H, Papadima EM, Ouled Amar Bencheikh B, Katsila T, Dionne-Laporte A, Spiegelman D, Dion PA, Patrinos GP, Orrù S, Rouleau GA.

Eur J Med Genet. 2015 Nov;58(11):573-7. doi: 10.1016/j.ejmg.2015.08.001. Epub 2015 Aug 7.

PMID:
26260707
26.

Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum.

Jouan L, Ouled Amar Bencheikh B, Daoud H, Dionne-Laporte A, Dobrzeniecka S, Spiegelman D, Rochefort D, Hince P, Szuto A, Lassonde M, Barbelanne M, Tsang WY, Dion PA, Théoret H, Rouleau GA.

Eur J Hum Genet. 2016 Apr;24(4):607-10. doi: 10.1038/ejhg.2015.156. Epub 2015 Jul 22.

27.

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F, Durand CM, Depienne C, Calvas P, Coutinho P, Saudubray JM, Rouleau G, Brice A, Nicholson G, Darios F, Loureiro JL, Zuchner S, Ottolenghi C, Mochel F, Stevanin G.

Brain. 2015 Aug;138(Pt 8):2191-205. doi: 10.1093/brain/awv143. Epub 2015 May 29.

28.

Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population.

Zhou S, Xiong L, Xie P, Ambalavanan A, Bourassa CV, Dionne-Laporte A, Spiegelman D, Turcotte Gauthier M, Henrion E, Diallo O, Dion PA, Rouleau GA.

PLoS One. 2015 May 26;10(5):e0128255. doi: 10.1371/journal.pone.0128255. eCollection 2015.

29.

Loss-of-function de novo mutations play an important role in severe human neural tube defects.

Lemay P, Guyot MC, Tremblay É, Dionne-Laporte A, Spiegelman D, Henrion É, Diallo O, De Marco P, Merello E, Massicotte C, Désilets V, Michaud JL, Rouleau GA, Capra V, Kibar Z.

J Med Genet. 2015 Jul;52(7):493-7. doi: 10.1136/jmedgenet-2015-103027. Epub 2015 Mar 24.

PMID:
25805808
30.

De novo mutations in moderate or severe intellectual disability.

Hamdan FF, Srour M, Capo-Chichi JM, Daoud H, Nassif C, Patry L, Massicotte C, Ambalavanan A, Spiegelman D, Diallo O, Henrion E, Dionne-Laporte A, Fougerat A, Pshezhetsky AV, Venkateswaran S, Rouleau GA, Michaud JL.

PLoS Genet. 2014 Oct 30;10(10):e1004772. doi: 10.1371/journal.pgen.1004772. eCollection 2014 Oct.

31.

Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.

Kahle KT, Merner ND, Friedel P, Silayeva L, Liang B, Khanna A, Shang Y, Lachance-Touchette P, Bourassa C, Levert A, Dion PA, Walcott B, Spiegelman D, Dionne-Laporte A, Hodgkinson A, Awadalla P, Nikbakht H, Majewski J, Cossette P, Deeb TZ, Moss SJ, Medina I, Rouleau GA.

EMBO Rep. 2014 Jul;15(7):766-74. doi: 10.15252/embr.201438840. Epub 2014 Jun 13.

32.

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.

Esteves T, Durr A, Mundwiller E, Loureiro JL, Boutry M, Gonzalez MA, Gauthier J, El-Hachimi KH, Depienne C, Muriel MP, Acosta Lebrigio RF, Gaussen M, Noreau A, Speziani F, Dionne-Laporte A, Deleuze JF, Dion P, Coutinho P, Rouleau GA, Zuchner S, Brice A, Stevanin G, Darios F.

Am J Hum Genet. 2014 Feb 6;94(2):268-77. doi: 10.1016/j.ajhg.2013.12.005. Epub 2014 Jan 2.

33.

Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum.

Noreau A, Beauchemin P, Dionne-Laporte A; FORGE Canada, Dion PA, Rouleau GA, Dupré N.

Cerebellum Ataxias. 2014 Jul 4;1:8. doi: 10.1186/2053-8871-1-8. eCollection 2014.

34.

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.

Boukhris A, Schule R, Loureiro JL, Lourenço CM, Mundwiller E, Gonzalez MA, Charles P, Gauthier J, Rekik I, Acosta Lebrigio RF, Gaussen M, Speziani F, Ferbert A, Feki I, Caballero-Oteyza A, Dionne-Laporte A, Amri M, Noreau A, Forlani S, Cruz VT, Mochel F, Coutinho P, Dion P, Mhiri C, Schols L, Pouget J, Darios F, Rouleau GA, Marques W Jr, Brice A, Durr A, Zuchner S, Stevanin G.

Am J Hum Genet. 2013 Jul 11;93(1):118-23. doi: 10.1016/j.ajhg.2013.05.006. Epub 2013 Jun 6.

35.

Draft genome sequence of the rubber tree Hevea brasiliensis.

Rahman AY, Usharraj AO, Misra BB, Thottathil GP, Jayasekaran K, Feng Y, Hou S, Ong SY, Ng FL, Lee LS, Tan HS, Sakaff MK, Teh BS, Khoo BF, Badai SS, Aziz NA, Yuryev A, Knudsen B, Dionne-Laporte A, Mchunu NP, Yu Q, Langston BJ, Freitas TA, Young AG, Chen R, Wang L, Najimudin N, Saito JA, Alam M.

BMC Genomics. 2013 Feb 2;14:75. doi: 10.1186/1471-2164-14-75.

36.

C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia.

Daoud H, Suhail H, Sabbagh M, Belzil V, Szuto A, Dionne-Laporte A, Khoris J, Camu W, Salachas F, Meininger V, Mathieu J, Strong M, Dion PA, Rouleau GA.

Arch Neurol. 2012 Sep;69(9):1159-63. doi: 10.1001/archneurol.2012.377.

PMID:
22964911
37.

Exome sequencing identifies FUS mutations as a cause of essential tremor.

Merner ND, Girard SL, Catoire H, Bourassa CV, Belzil VV, Rivière JB, Hince P, Levert A, Dionne-Laporte A, Spiegelman D, Noreau A, Diab S, Szuto A, Fournier H, Raelson J, Belouchi M, Panisset M, Cossette P, Dupré N, Bernard G, Chouinard S, Dion PA, Rouleau GA.

Am J Hum Genet. 2012 Aug 10;91(2):313-9. doi: 10.1016/j.ajhg.2012.07.002. Epub 2012 Aug 2.

38.

Parent-child exome sequencing identifies a de novo truncating mutation in TCF4 in non-syndromic intellectual disability.

Hamdan FF, Daoud H, Patry L, Dionne-Laporte A, Spiegelman D, Dobrzeniecka S, Rouleau GA, Michaud JL.

Clin Genet. 2013 Feb;83(2):198-200. doi: 10.1111/j.1399-0004.2012.01890.x. Epub 2012 Jun 4. No abstract available.

PMID:
22670824
39.

Exome sequencing reveals SPG11 mutations causing juvenile ALS.

Daoud H, Zhou S, Noreau A, Sabbagh M, Belzil V, Dionne-Laporte A, Tranchant C, Dion P, Rouleau GA.

Neurobiol Aging. 2012 Apr;33(4):839.e5-9. doi: 10.1016/j.neurobiolaging.2011.11.012. Epub 2011 Dec 10.

PMID:
22154821
40.

Increased exonic de novo mutation rate in individuals with schizophrenia.

Girard SL, Gauthier J, Noreau A, Xiong L, Zhou S, Jouan L, Dionne-Laporte A, Spiegelman D, Henrion E, Diallo O, Thibodeau P, Bachand I, Bao JY, Tong AH, Lin CH, Millet B, Jaafari N, Joober R, Dion PA, Lok S, Krebs MO, Rouleau GA.

Nat Genet. 2011 Jul 10;43(9):860-3. doi: 10.1038/ng.886.

PMID:
21743468
41.

The draft genome of the transgenic tropical fruit tree papaya (Carica papaya Linnaeus).

Ming R, Hou S, Feng Y, Yu Q, Dionne-Laporte A, Saw JH, Senin P, Wang W, Ly BV, Lewis KL, Salzberg SL, Feng L, Jones MR, Skelton RL, Murray JE, Chen C, Qian W, Shen J, Du P, Eustice M, Tong E, Tang H, Lyons E, Paull RE, Michael TP, Wall K, Rice DW, Albert H, Wang ML, Zhu YJ, Schatz M, Nagarajan N, Acob RA, Guan P, Blas A, Wai CM, Ackerman CM, Ren Y, Liu C, Wang J, Wang J, Na JK, Shakirov EV, Haas B, Thimmapuram J, Nelson D, Wang X, Bowers JE, Gschwend AR, Delcher AL, Singh R, Suzuki JY, Tripathi S, Neupane K, Wei H, Irikura B, Paidi M, Jiang N, Zhang W, Presting G, Windsor A, Navajas-Pérez R, Torres MJ, Feltus FA, Porter B, Li Y, Burroughs AM, Luo MC, Liu L, Christopher DA, Mount SM, Moore PH, Sugimura T, Jiang J, Schuler MA, Friedman V, Mitchell-Olds T, Shippen DE, dePamphilis CW, Palmer JD, Freeling M, Paterson AH, Gonsalves D, Wang L, Alam M.

Nature. 2008 Apr 24;452(7190):991-6. doi: 10.1038/nature06856.

Supplemental Content

Loading ...
Support Center