Our research

1) Harting I, Al-Saady M, Krägeloh-Mann I, Bley A, Hempel M, Karch S, Moog U, Bernard G, Huntsman R, van Spaendonk RML, van der Knaap MS, Pouwels PJW, Wolf NI. POLR3A variants with striatal involvement and extrapyramidal movement disorder. Neurogenetics2020 Jan 15 [epub ahead of print]. (PMID: 31940116) IF: 3.323

2) Helman G, Lajoie BR, Crawford J, Takanohashi A, Walkiewicz M, Dolzhenko E, Gross, A, Gainullin V, Bent SJ, Jenkinson EM, Ferdinandusse S, Waterham HR, Dorboz I, Bertini E, Miyake N, Wolf NI, Abbink TEM, Kirwin S, Tan C, Hobson G, Guo L, Ikegawa S, Pizzino A, Schmidt JL, Bernard G, Schiffmann R, van der Knaap MS, Simons C, Taft RJ*, Vanderver A*. Genome sequencing in persistently unsolved white matter disorders. Ann Clin Transl Neurol 2020 Jan; 7(1):144-152. (PMID: 31912665) IF: 4.656

3) Mendes MI, Green LMC, Bertini E, Tonduti D, Aiello C, Salsano E, Hertecant J, von Spiczak S, Livingston JH, Emrick L, Fraser J, Russell L, Bernard G, Magri S, Di Bella D, Taroni F, Koenig MK, Moroni I, Cappuccio G, Brunetti-Pierri N, Rhee J, Mendelsohn B, Helbig I, Helbig K, Mühle H, Ismayl O, Vanderver AL, Salomons GS, van der Knaap MS, Wolf NI. RARS1-related hypomyelinating leukodystrophy: Broadening the spectrum. Accepted to Ann Clin Transl Neurol 2020 Jan;7(1): 83-93. (PMID: 31814314) IF: 4.656

4) Gauquelin L^, Cayami FK^, Sztriha L, Yoon G, Tran LT, Guerrero K, Hocke F, Fung EL, D’Arrigo S, Vasco G, Thiffault I, Niyazov DM, Person R, Lewis K, Wassmer E, Prescott T, Fallon P, McEntagart M, Rankin J, Webster R, Phlilppi H, van de Warrenburg B, Timmann-Braun D, Dixit A, Searle C, DDD study, Goizet C, Wolf NI^^, Bernard G^^. Clinical spectrum of POLR3-related leukodystrophy caused by POLR1C mutations. Neurology Genetics. Dec 2019; 5(6), DOI: https://doi.org/10.1212/NXG.0000000000000369. *

5) Beauregard-Lacroix E, Saliman S, Kim H, Ehresmann S, D’Amours G, Gauthier J, Saillour V, Bernard G, Mitchell GA, Soucy JF, Michaud JL, Campeau. PM. A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL. Eur J Hum Genet 2019 Nov 6 [Epub ahead of print] (PMID: 31695177) IF: 3.650

6) Waters PJ, Lac B, Buhas D, Gravel S, Cyr D, Boucher RM, Bernard G, Levesque S, Maranda B. HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype and founder effect in French-Canadian patients from Quebec. Mol Genet Genomic Med. 2019 Oct 26:e1000. doi: 10.1002/mgg3.1000. [Epub ahead of print]. (PMID: 31654490) IF: 2.448

7) Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet JB, Carmignac V, Garret P, Bessis D, Boute O, Bron A, Captier G, Carmi E, Devauchelle B, Geneviève D, Gondry-Jouet C, Guibaud L, Lafon A, Mathieu-Dramard M, Thevenon J, Dobyns WB, Bernard G, Polubothu S, Faravelli F, Kinsler VA, Thauvin C, Faivre L, Ross ME, Rivière JB. Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nat Genet. 2019 Oct 14. doi: 10.1038/s41588-019-0527-3. [Epub ahead of print] (PMID: 31611689) IF: 31.154

8) Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P,Courcet JB, Carmignac V, Bessis D, Boute O, Bron A, Captier G, Carmi E, Dalac S, Devauchelle B, Geneviève D, Gondry-Jouet C, Guibaud L, Lafon A, Thevenon J, Bernard G, Dobyns WB, Faivre L, Ross ME, Rivière JB. Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nat Genet. 2019 Sep 30. doi: 10.1038/s41588-019-0498-4. [Epub ahead of print] (PMID: 31570889). IF: 31.154

9) Maussion G, Rocha C, Bernard G, Beitel LK, Durcan TM. Patient-derived stem cells, another in vitro model or the missing link towards novel therapies for Autism Spectrum Disorders? Frontiers in Pediatrics 2019 June;7(225). (PMID: 31245336). IF: 2.335

10) Choquet K, Forget D, Meloche E, Dicaire MJ, Bernard G, Vanderver A, Schiffmann R, Fabian MR, Teichmann M, Couloube B, Kleinman CL. Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200. J Biol Chem 2019 May 3;294(18):7445-7459. (PMID: 30898877). IF: 4.010

11) Al Yazidi G, Tran LT, Guerrero K, Vanderver A, Schiffmann R, Wolf NI, Chouinard S, Bernard G. Dystonia in Polymerase 3-related leukodystrophy. Mov Disord Clin Pract, 2019 Jan 9;6(2):155-159. (PMID: 30838315) *

12) Friedman J^, Smith DE^, Issa MY, Stanley V, Wang R, Mendes MI, Wright M, Wigby K, Hildreth A, Crawford J, Koehler AE, Chowdhury S, Nahas S, Zhai L, Xu Z, Lo WS, Musaev D, Accogli A, Guerrero K, Tran LT, Ben-Omran T, Salomons GS, Zaki MS, Bernard G^^, Gleeson JG^^. Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. Nat Commun2019 Feb 12;10(1):707 (PMID: 30755602). IF: 12.124 

13) Accogli A, Guerrero K, D’Agostino MD, Tran LT, Cieuta-Walti C, Thiffault T, Chenier S, Schwartzentruber J, Malewski J, Care4Rare Canada Consortium, Bernard G. Biallelic loss-of-function variant in AIMP1 causes a rare neurodegenerative disease. J Child Neurol 2019 Feb;34(2):74-80. [Epub ahead of print] (PMID: 30486714). IF: 1.385 *

14) Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, Vanier MT, Walterfang M, Bolton S, Dawson C, Héron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klünemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M; International Niemann-Pick Disease Registry (INPDR). Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet J Rare Dis. 2018 Apr 6;13(1):50. (PMID: 29625568). IF: 3.478

15) Mirchi A, Pelletier F, Tran LT, Keller S, Braverman N, Tonduti D, Vanderver A, Roncarolo F, Pizzino A, Dilenge ME, Poulin C, Shevell M, Majnemer A, Sébire G, Srour M, Osterman B, Boucher RM, Vanasse M, Rossignol E, Mitchell J, Venkateswaran S, Pohl D, Kauffman M, Schiffmann R, Goizet C, Moutton S, Bernard G. Health-related quality of life for genetically determined leukoencephalopathy patients. Pediatr Neurol 2018 Jul;84:21-26. (PMID: 29859719) IF: 1.866 *

16) Mendes MI^, Gutierrez Salazar M^, Guerrero K^, Thiffault I, Salomons GS, Gauquelin L, Tran LT, Forget D, Gauthier MS, Waisfisz Q, Smith DEC, Simons C, van der Knaap MS, Marquardt I, Lemes A, Mierzewska H, Weschke B, Koehler W, Coulombe B, Wolf NI^^, Bernard G^^. Bi-allelic mutations in EPRS, encoding the glutamyl-prolyl-aminoacyl-tRNA synthetase, cause a Hypomyelinating Leukodystrophy. Am J Hum Genet 2018, Apr 5;102(4):676-684. doi: 10.1016/j.ajhg.2018.02.011. Epub 2018 Mar 22. (PMID: 29576217) IF: 9.025 *

17) Cayami FK, Bugiani M, Pouwels PJW, Bernard G, van der Knaap MS, Wolf NI. 4H leukodystrophy: Lessons from 3T imaging. Neuropediatrics. 2018 Apr;49(2):112-117. doi: 10.1055/s-0037-1608780. Epub 2017 Nov 27. (PMID: 29179231). IF: 1.571 

18) Perrier S^, Gauquelin L^, Tétreault M, Tran LT, Webb N, Srour M, Mitchell JJ, Brunel-Guitton C, Majewski J, Long V, Keller S, Gambello MJ, Simons C, Care4Rare Canada Consortium, Vanderver A, Bernard G. Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy. Clinical Genetics. 2018 Feb;93(2):396-400. Epub 2017 Aug 30. (PMID: 28857146) IF: 3.326 *

19) Gauquelin L, Tetreault M, Thiffault I, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupre N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, Gan-Or Z, Bernard G. POLR3A variants in hereditary spastic paraplegia and ataxia. Brain. 2018 Jan 1;141(1):e1. Epub 2017 Dec 8. (PMID: 29228109) IF: 10.292 * 

20) Gauquelin L, Tran LT, Chouinard S, Bernard G. The movement disorder of Brain-Lung-Thyroid syndrome can be responsive to methylphenidate. Tremor and Other Hyperkinetic Movements. 2017 Oct 26;7:508. (PMID: 29109906) *

21) Renaud M, Tranchant C, Martin JVT, Mochel F, Synofzik M, van de Warrenburg B, Pandolfo M, Koenig M, Kolb SA, MD, Anheim M, and the RADIAL working group. A recessive ataxia diagnosis algorithm for the next-generation sequencing era. Annals of Neurology. 2017 Dec;82(6):892-899. Epub 2017 Oct 23. (PMID: 29059497) IF: 9.89

22) Kay-Rivest E, Khendez L, Bernard G, Daniel SJ. Pediatric Leukodystrophies: The Role of the Otolaryngologist. International Journal of Pediatric Otorhinolaryngology 2017 Oct 101;141-144. (PMID: 28964285) *

23) Adang LA, Sherbini O, Ball L, Bloom M, Darbari A, Amartino H, Divito D, Eichler F, Escolar M, Evans SH, Fatemi A, Fraser J, Hollowell L, Jaffe N, Joseph C, Karpinski M, Keller S, Maddock R, Mancilla E, McClary B, Mertz J, Morgart K, Langan T, Leventer R, Parikh S, Pizzino A, Prange E, Renaud D, Rizzo W, Shapiro J, Suhr D, Suhr T, Tonduti D, Waggoner J, Waldman A, Wolf NI, Zerem A, Bonkowsky JL, Bernard G^^, van Haren K^^, Vanderver A^^, on behalf of the Global Leukodystrophy Initiative (GLIA) Consortium. Revised Consensus Statement on the Preventive and Symptomatic Care of Patients with Leukodystrophies. Mol Genet Metab. 2017 Sep;122(1-2):18-32. Epub 2017 Aug 20. (PMID: 28863857) IF: 3.769

24) Choquet K, Yang S, Moir RD, Forget D, Larivière R, Bouchard A, Poitras C, Sgarioto N, Dicaire MJ, Noohi F, Kennedy TE, Rochford J, Bernard G, Teichmann M, Coulombe B, Willis IM, Kleinman CL, Brais B. Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation. Mol Brain. 2017 Apr 13;10(1):13. (PMID: 28407788) IF: 3.745

25) Vrij-van den Bos S^, Hol JA^, La Piana R^, Harting I, Vanderver A, Barkhof F, Cayami F, van Wieringen WN, Pouwels PJW, van der Knaap MS, Bernard G^^, Wolf NI^^. 4H leukodystrophy: a brain MRI scoring system. Neuropediatrics 2017 Jun;48(3):152-160 [Epub ahead of print] (PMID: 28249300). IF: 1.291 *

26) Kernohan KD, Dyment DA, Pupavac M, Cramer Z, McBride A, Bernard G, Straub I, Tetreault M, Hartley T, Huang L, Sell E, Majewski J, Rosenblatt DS, Shoubridge E, Mhanni A, Myers T, Proud V, Vergano S, Spangler B, Farrow E, Kussman J, Safina N, Care4Rare Consortium, Saunders C, Boycott KM, Thiffault I. Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene. Human Mutation 2017 May;38(5):511-516 [Epub ahead of print] (PMID: 28185376). IF: 5.089

27) Yea C, Bitnun A, Robinson J, Mineyko A, Barton M, Brophy J, Crone M, Desai S, Hukin J, Jones K, Licht C, Mah JK, Muir K, Pernica JM, Pless R, Pohl D, Rafay MF, Richardson S, Selby K, Vajsar J, Venkateswaran S, Bernard G, Yeh EA. Clinical features and Outcomes in the 2014 Acute Flaccid Paralysis Cluster in Canada: A Longitudinal Nationwide Study. J Child Neurol 2017 Mar;32(3):301-307 (PMID: 28193112). IF: 1.434

28) Ulrick N, Goldstein A, Simons C, Taft RJ, Helman G, Pizzino A, Bloom M, Vogt J, Pysden K, Diodato D, Martinelli D, Monavari A, Buhas D, van Karnebeek CDM,  Dorboz I, Boespflug-Tanguy O, Rodriguez D, Tétreault M, Majewski J, Bernard G, Ng YS, Care4Rare Canada Consortium, McFarland R, Vanderver A. RMND1 related Leukoencephalopathy with temporal lobe cysts and hearing loss – another Mendelian mimicker of congenital CMV infection. Pediatr Neurol. 2017 Jan;66:59-62 (PMID: 27843092). IF: 1.866

29) Müller SH, Girard SL, Hopfner F, Merner ND, Bourassa CV, Lorenz D, Clark LN, Tittmann L, Soto-Ortolaza AI, Klebe S, Hallet M, Schneider SA, Hodgkinson CA, Lieb W, Wszolek ZK, Pendziwiat M, Lorenzo-Betancor O, Poewe W, Ortega-Cubero S, Seppi K, Rajput A, Hussl A, Rajput AH, Berg D, Dion PA, Wurster I, Shuman JM, Srulijes K, Haubenberger D, Pastor P, Vilariño-Güell C, Postuma RB, Bernard G, Lawdwig KH, Dupré N, Jankovic J, Strauch K, Panisset M, Winkelmann J, Testa CM, Reischl E, Zeuner KE, Ross OA, Arzberger T, Chouinard S, Deuschl G, Louis ED, Kuhlenbäumer G, Rouleau GA. Genome-Wide Association Study in Essential Tremor identifies three new loci, Brain 2016 Dec;139(Pt 12): 3163-3169 (PMID: 27797806). IF: 10.103.

30) Thiffault I, Bernard G. Expert opinion and caution are imperative for interpretation of next generation sequencing data. Eur J Med Genet. 2016 Aug 12. pii: S1769-7212(16)30126-4 (PMID: 27535217). IF: 1.810. 

31) Vanderver A, Simons C, Helman G, Crawford J, Wolf NI, Bernard G, Pizzino A, Schmidt JL, Takanohashi A,  Miller D; Khouzam A, Rajan V, Ramos E, Chowdhury S, Hambuch T, Ru K, Baillie GJ, Grimmond SM, Caldovic L, Devaney JM, Bloom M, Evans SH, Murphy JL, McNeill N, Fogel B, Leukodystrophy Study Group, Schiffmann R, van der Knaap MS, Taft RJ. Whole exome sequencing in patients with white matter abnormalities, Ann Neurol. 2016 Jun;79(6):1031-7. Epub 2016 May 9 (PMID: 27159321). IF: 9.997

32) La Piana R^, Cayami FK^, Tran LT, Guerrero K, van Spaendonk RML, Õunap K, Pajusalu S, Prokisch H, Wassmer E, Timmann D, Mierzewska H, Poll-Thé BT, Patel C , Cox H, Atik T, Onay H, Ozkınay F, Vanderver A, van der Knaap MS, Wolf NI^^, Bernard G^^. Diffuse hypomyelination is not obligate for POLR3-related disorders. Neurology 2016 Apr 26;86(17):1622-6 (PMID:27029625). IF: 8.286 *

33) Jurkiewicz E, Dunin-Wąsowicz D, Gieruszczak-Białek D, Malczyk K, Guerrero K, Gutierrez M, Tran LT, Bernard G. Recessive mutations in POLR3B encoding RNA polymerase III subunit causing diffuse hypomyelination in patients with 4H leukodystrophy with polymicrogyria and cataracts Clin Neuroradiol. 2015 Oct 19. [Epub ahead of print] (PMID: 26478204). IF: 2.250

34) Wolf NI, Bernard G. Mutations in RNF216 do not cause 4H syndrome. Parkinsonism Relat Disord. 2015 Nov;21(11):1387-8 (PMID: 26365775). IF: 3.972

35) Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford M, Bernard G, Bernier F, Brais B, Bulman DE, Chardon JW, Chitayat D, Deladoëy J, Fernandez B, Frosk P, Geraghty M, Gerull B, Gibson W, Gow RM, Graham G, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel S, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu V, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir F, FORGE Canada Consortium, Care4Rare Canada Consortium, Majewski J, Boycott KM. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clinical Genetics 2015 Aug 18 (PMID: 26283276). IF: 3.931

36) Noreau A, Marcoux C, FORGE Canada, Dion PA, Brais B, Bernard G, Rouleau GA. Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family. Neurogenetics, 2015 Aug 11 (PMID: 26260654). IF: 2.884

37) Thiffault I^, Wolf NI^, Forget D^, Guerrero K, Tran LT, Choquet K, Lavallée-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, Zimmermann A, Máté A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver A, Simons C, Taft RJ, Yates III JR, Coulombe B^^, Bernard G^^ Recessive mutations in POLR1Ccause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nature Commun. 2015 Jul 7;6:7623 (PMID: 26151409). IF: 11.470

· Recommended by Faculty of 1000

38) Kevelam SH, Taube JR, van Spaendonk RM, Bertini E, Sperle K, Tarnopolsky M, Tonduti D, Valente EM, Travaglini L, Sistermans EA, Bernard G, Catsman-Berrevoets CE, van Karnebeek CD, Østergaard JR, Friederich RL, Fawzi Elsaid M, Schieving JH, Tarailo-Graovac M, Orcesi S, Steenweg ME, van Berkel CG, Waisfisz Q, Abbink TE, van der Knaap MS, Hobson GM, Wolf NI. Altered PLP1 Splicing Causes Hypomyelination of Early Myelinating Structures. Ann Clin Transl Neurol. 2015 Jun;2(6):648-61 (PMID: 26125040). IF: 9.977

39) Patterson MC, Mengel E, Vanier MT, Schwierin B, Muller A, Cornelisse P, Pineda M; NPC Registry investigators. Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study. Orphanet J Rare Dis. 2015 May 28;10:65. (PMID: 26017010) IF: 3.36

40) Billington E, Bernard G, Gibson W, Corenblum B. Endrocrine aspects of 4H leukodystrophy: A Case Report and Review of the Literature. Case Rep Endocrinol.2015;2015:314594. Epub 2015 May 31 (PMID: 26113998). *

41) Gutierrez-Salazar M^, Thiffault I^, Guerrero K, Martos-Moreno GA, Tran LT, Benko W, van der Knaap MS, van Spaendonk RML, Wolf NI^^, Bernard G^^. Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy. Orphanet J Rare Dis. 2015 Jun 5;10(1):69. (PMID: 26045207) IF: 3.36 *

42) O’Mahony J, Marrie RA, Laporte A, Yeh EA, Bar-Or A, Phan C, Buckley D, Callen D, Connolly MB, Pohl D, Dilenge ME, Bernard G, Lortie A, Lowry N, MacDonald EA, Meek D, Sébire G, Venkateswaran S, Wood E, Yager J, Banwell B. Recovery from central nervous system acute demyelination in children. Pediatrics 2015 Jun 1. (PMID: 26034241) IF: 5.731

43) Cayami FK^, La Piana R^, van Spaendonk RML, Nickel M, Bley A, Guerrero K, Tran LT, van der Knaap MS, Bernard G^^, Wolf NI^^ (+ co senior authors). POLR3Aand POLR3B mutations in unclassified hypomyelination. Neuropediatrics. 2015 Jun;46(3):221-8. (PMID: 26011300) IF: 1.240 *

44) Potic A, Popovic V, Ostojic J, Pekic S, Kozic D, Guerrero K, Schiffmann R, Bernard G. What lies beneath 20 years of isolated neurogenic bladder. BMC Neurol. 2015 Mar 4;15(1):22. (PMID: 25868523) IF: 2.040

45) Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Fatemi SA, Leonard J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A, on behalf of the GLIA consortium. Disease Specific Therapies in Leukodystrophies and Leukoencephalopathies. Mol Genet Metab. 2015 Apr;114(4):527-536. (PMID: 25684057) IF: 2.625

46) Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS; on behalf of the GLIA Consortium. Case definition and classification of leukodystrophies and leukoencephalopathies. Mol Genet Metab. 2015 Apr;114(4):494-500. (PMID: 25649058) IF: 2.625

47) Parikh S^, Bernard G^, Leventer RJ, van der Knaap MS, Van Hove JL, Pizzino A, McNeill NH, Helman G, Simons C, Rizzo WB, Patterson MC, Vanderver A, Taft RJ, on behalf of the GLIA Consortium. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephalopathies (^ : dual first authors). Mol Genet Metab 2015 Apr;114(4):501-515. (PMID: 25655951) IF: 2.625

48) Van Haren K, Bonkowsky JL, Bernard G, Murphy JL, Pizzino A, Helman G, Suhr D, Waggoner J, Hobson D, Vanderver A, Patterson MC on behalf of the GLIA Consortium. Consensus Statement on Preventive and Symptomatic Care of Leukodystrophy Patients. Mol Genet Metab 2015 Apr;114(4):516-526. (PMID: 25577286).IF: 2.625

49) Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Luisa Carpanelli M, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, Piana RL, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez D, Roubertie A, Salvatici E, Segers KA, Sinha GP, Soler D, Spiegel R, Stödberg TI, Straussberg R, Swoboda KJ, Suri M, Tacke U, Tan TY, Te Water Naude J, Wee Teik K, Mary Thomas M, Till M, Tonduti D, Maria Valente E, Noel Van Coster R, van der Knaap MS, Vassallo G, Vijzelaar R, Vogt J, Wallace GB, Wassmer E, Webb HJ, Whitehouse WP, Whitney RN, Zaki MS, Zuberi SM, Livingston JH, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice GI. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR and IFIH1. Am J Med Genet A 2015 Feb;167(2):296-312. (PMID: 25604658). IF: 2.159

50) La Piana R, Vanasse M, Brais B, Bernard G. Myelination delay and Allan-Herndon-Dudley syndrome caused by a novel mutation in the SLC16A2 gene. J Child Neurol 2015 Sep:30(10):1371-1374; Epub 2014 Nov 7. (PMID: 25380603) IF: 1.717 *

51) La Piana R, Tran L, Guerrero K, Brais B, Levesque S, Sébire G, Riou E, Bernard G. Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome. Neuropediatrics 2014 Dec;45(6):406-10. (PMID: 25343331) IF: 1.240 *

52) Wolf NI, Vanderver A, van Spaendonk RML, Schiffmann R, Brais B, Bugiani M, Sistermans EA, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; On behalf of the 4H Research Group. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology 2014 Nov 18;83(21):1898-905. (PMID: 25339210) IF: 8.286

53) Lacerte A, Chouinard S, Jodoin N, Bernard G, Rouleau GA, Panisset M. Increased Prevalence of Non Motor Symptoms in Essential Tremor. Tremor Other Hyperkinet Mov (N Y). 2014 Sep 2;4:162 (PMID: 25247108). 

54) Pizzino A, Pierson T, Simons C, Helman G, Guo Y, Fortini S, Guerrero K, Saitta S, Murphy J, Funari T, Fox M, Taft R, van der Knaap MS, Bernard G, Schiffmann R, Padiath Q^^, Vanderver A^^. TUBB4A de novo mutations cause isolated hypomyelination. Neurology. 2014 Sep 2;83(10):898-902. (PMID: 25085639) IF: 8.286

55) Kashani A, Thiffault I, Dilenge ME, Saint-Martin C, Guerrero K, Tran L, Shoubridge E, van der Knaap MS, Braverman N, Bernard G. A Homozygous Mutation in the NDUFS1 Gene Presents with a Mild Cavitating Leukoencephalopathy. Neurogenetics. 2014 Aug;15(3):161-4. (PMID: 24952175) IF: 2.884 *

56) Pouwels PJW^, Vanderver A^, Bernard G^, Wolf N^, Dreha-Kulczewski, Deoni S, Bertini E, Kohlschütter, Richardson W, ffrench-Constant C, Kölher W^^, Rowitch D^^, Barkovich AJ^^ Hypomyelinating leukodystrophies: Progress and prospects in translational research. Ann Neurol. 2014 Jul;76(1):5-19. (PMID: 24916848). IF: 11.91

57) Robinson ME, Rossignol E, Brais B, Rouleau G, Arbour JF, Bernard G. Vanishing White Matter Disease in French-Canadian patients from Quebec. Pediatric Neurology 2014; 51(2): 225-232. (PMID: 25079571) IF : 1.717 *

58) La Piana R^ and Tonduti D^, Gordish Dressman H, Schmidt JL, Murnick J, Brais B, Bernard G^^ and Vanderver A^^. Brain MRI pattern recognition in Pol III-related leukodystrophies. J Child Neurol 2014 Feb;29(2):214-20. Epub 2013 Oct 7. (PMID: 24105487) IF: 1.717 *

59) Rice GI, Forte GMA, Szynkiewicz M, Chase D, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De Laet C, De Goede CGEL, de las Heras S, del Toro M, Effat L, Enamorado NN, Fazzi E, Gener B, Haldre M, Lin JP S-M, Livingston JH, Marques Lourenco C, Marques W, Oades P, Peterson P, Quevat B, Rasmussen M, Roubertie A, Loewenstein Schmidt J, Shalev SA, Spiegel R, Swoboda KJ, Temtamy SA, Vassallo G, Vilain CN, Vogt J, Wermenbol V, Whitehouse WP, Soler D, Olivieri I, Orcesi S, Aglan MS, Zaki MS, Abdel-Salam GMH, Vanderver A, Kisand K, Rozenberg F, Lebon P, Crow YJ. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1 and ADAR1: a case-control study. Lancet Neurology 2013 Dec;12(12):1159-69. Epub 2013 Oct 30. (PMID: 24183309) IF: 21.823

60) Synofzik M, Bernard G, Lindig T, Gburek-Augustat J. Teaching neuroimages: Hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy’s mouth. Neurology 2013 Nov 5;81(19):e145. (PMID : 24190003) IF : 8.303

61) Buhas D, Bernard G, Fukao T, Décarie JC, Chouinard S, Mitchell GA. A treatable new cause of chorea: Beta-Ketothiolase deficiency. Mov Disord. 2013 Jul 28(8):1054-6. (PMID: 23818432) IF: 5.680

62) Daoud H^, Tetreault M^, Gibson W, Guerrero K, Cohen A, Gburek-Augustat J, Synofzik M, Brais B, Stevens C, Sanchez-Carpintero R, Goizet C, Naidu S, Vanderver A, Bernard G. Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies. J Med Genet. 2013 Mar;50(3):194-7. Epub 2013 Jan 25. (PMID: 23355746) IF: 6.335 *

63) Thiffault I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G, Duquette A, Larivière R, Gehring K, Montpetit A, McPherson PS, Richter A, Montermini L, Mercier J, Mitchell GA, Dupré N, Prévost C, Bouchard JP, Mathieu J, Brais B. Diversity of ARSACS mutations in French-Canadians. Can J Neurol Sci. 2013 Jan;40(1):61-6. (PMID: 23250129) IF: 1.525

64) Vanderver A, Tonduti D, Bernard G, Lai J, Rossi C, Carosso G, Quezado M, Wong K, Schiffmann R. More than hypomyelination in Pol-III disorder. J Neuropathol Exp Neurol.2013 Jan;72(1):67-75. (PMID: 23242285). IF: 4.372

65) Osterman B, Sylvain M, Chouinard S, Bernard G. Tremor-Ataxia with Central Hypomyelination (TACH): Dystonia as a new clinical feature. Mov Disord. 2012 Dec;27(14):1831-2. (PMID: 23208740) IF: 5.680 *

66) Osterman B, La Piana R and Bernard G. Advances in the diagnosis of Leukodystrophies. Future Neurology 2012; Sept 7(5):595-612. *

67) 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. Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor. Am J Hum Genet.2012 Aug 10;91(2):313-319. (PMID: 22863194) IF: 11.202

68) Perreault S, Bernard G, de Villartay G-P, Haddad E, Le Deist F, Chouinard S, Lortie A, Decaluwe H. Ataxia-telangiectesia presenting with a novel immunodeficiency. Pediatr Neurol. 2012 May;46(5):322-4. (PMID: 2252055) IF: 1.717

69) Potic A, Brais B, Choquet K, Schiffmann R, Bernard G. 4H Syndrome With Late-Onset Growth Hormone Deficiency Caused by POLR3A Mutations. Arch Neurol 2012 Jul;69(7):920-923. (PMID: 22451160) IF: 7.584

70) Bayat V, Thiffault I, Jaiswal M, Tetreault M, Donti T, Sasarman F, Bernard G, Demers-Lamarche J, Dicaire MJ, Mathieu J, Vanasse M, Bouchard JP, Rioux MF, Lesage J, Lourenco CM, Li Z, Haueter C, Shoubridge E, Graham BH, Brais B, Bellen H. Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans. PLoS Biol 2012 Mar;10(3):e1001288. Epub 2012 Mar 20. (PMID: 22448145) IF: 12.69

71) Tétreault M, Putorti ML, Thiffault I, Sylvain M, Vanderver A, Schiffmann R, Brais B, Bernard G. TACH leukodystrophy: locus refinement to chromosome 10q22.3-23.1. Can J Neurol Sci 2012 Jan;39(1):122-3. (PMID:22384513) IF: 1.525 *

72) Hand CK^, Bernard G^, Dubé MP, Shevell MI, Rouleau GA (1: dual first authors). A novel PLP1 mutation further expands the clinical heterogeneity at the locus. Can J Neurol Sci 2012 Mar;39(2):220-4. (PMID: 22343157) IF: 1.525

73) La Piana R, Vanderver A, van der Knaap M, Roux L, Tampieri D, Brais B, Bernard G. Adult-Onset Vanishing White Matter Disease Due to a Novel EIF2B3 Mutation. Arch Neurol 2012 Jun;69(6):765-768. (PMID: 22312164) IF: 7.584 *

74) Benini R, Saint-Martin C, Shevell MI, Bernard G. Abnormal Myelination in Ring Chromosome 18, J Child Neurol 2012 Aug;27(8):1042-7. (PMID: 22290857) IF: 1.717 *

75) Tétreault M^, Choquet K^, Orcesi S, Tonduti D, Balottin U, Teichmann M, Fribourg S, Schiffmann R, Brais B, Vanderver A, Bernard G. Recessive mutations in POLR3B encoding the second largest subunit of Pol III cause a rare hypomyelinating leukodystrophy, Am J Hum Genet 2011 Nov 11;89(5):652-655. (PMID: 22036172) IF: 11.202 *

76) Bernard G, Chouery E, Putorti ML, Tétreault M, Takanohashi A, Carosso G, Clément I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, Megarbane A, Schiffmann R, Vanderver A, Brais B. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet 2011;89(3):415-423. (PMID: 21855841) IF: 11.202

77) Bernard G, Chouinard S. A unique pediatric case of radiation-induced parkinsonism. Journal of Pediatric Neurology 2011;9:123–126.

78) Bourassa CV, Rivière JB, Dion PA, Bernard G, Diab S, Panisset M, Chouinard S, Dupré N, Fournier H, Raelson J, Belouchi M, Rouleau GA. LINGO1 variants in the French-Canadian population. PLoS One. 2011 Jan 11;6(1):e16254. (PMID: 21264305) IF: 4.092

79) Bernard G, Thiffault I, Tetreault M, Putorti ML, Bouchard I, Sylvain M, Melançon S, Laframboise R, Langevin P, Bouchard J-P, Vanasse M, Vanderver A, Sébire G, Brais B. Tremor-Ataxia with Central Hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. Neurogenetics 2010 Oct;11(4):457-64. (PMID: 20640464) IF: 3.488 

80) Bernard G, Panisset M, Sadikot AF, Chouinard S. Chylomicron retention disease: Dystonia as a new clinical feature. Mov Disord 2010 Aug 15;25(11):1755-6. (PIMD: 20589877) IF: 5.680

81) Bernard G, Vanasse M, Chouinard S. A case of secondary dystonia responsive to levodopa. J Child Neurol 2010;25(6):780-781. (PMID: 19808991) IF: 1.717

82) Vanasse M, Adamovic T, Riou E, Bernard G, Gauvin F. Response to: Combined Central and Peripheral Demyelination: Comparison of Adult and Children series. Pediatr Neurol 2009;41(1):77-78. IF: 1.717

83) Jacobs J, Bernard G, Andermann E, Dubeau F, Andermann F. Refractory and lethal status epilepticus in a patient with ring chromosome 20 syndrome. Epileptic Disord2008;10(4):1-6. (PMID: 19017565) IF: 1.068 

84) Bernard G, Shevell MI. The wobbly child: An approach to inherited ataxias. Seminars Ped Neurol 2008;15:194–208. (PMID: 19073328) IF: 2.232

85) Adamovic T, Riou EM, Bernard G, Vanasse M, Décarie JC, Poulin C, Gauvin F. Acute combined central and peripheral nervous system demyelination in children. Pediatric Neurol 2008;39:307-316. (PMID: 18940553) IF: 1.717

86) Bernard G. Response to correspondence: simultaneous central and peripheral demyelination, J Child Neurol 2008;23(12):1495-6. IF: 1.717

87) Bernard G, Riou E, Rosenblatt B, Dilenge M-E, Poulin C. Simultaneous Guillain-Barré and acute disseminated encephalomyelitis in the pediatric population. J Child Neurol 2008;23(7):752-757. (PMID: 18354151) IF: 1.717

88) Bernard G, Shevell M. Channelopathies: A Review. Pediatr Neurol 2008;38(2):73-85. (PIMD: 18206787) IF: 1.717

89) Bernard G, Poulin C, Puymirat J, Sternberg D, Shevell MI. Dosage effect of a dominant CLCN1 mutation: a novel syndrome. J Child Neurol 2008;23:163-166. (PMID: 18263754) IF: 1.717

90) Rossignol S, Barrière G, Frigon A, Barthélemy D, Bouyer L, Provencher J, Leblond H, Bernard G. Plasticity of locomotor sensorimotor interactions after peripheral and/or spinal lesions. Brain Res Rev 2008;57(1):228-240. (PMID: 17822774) IF: 6.236

91) Campeau PM^, Bernard G^, Clayton PT. Neurotransmitters and related conditions. Mol Genet Metab 2007;92:189-197. (PMID: 18038456) IF: 2.55 

92) Bernard G, Bouyer L, Provencher J, Rossignol S. A study of cutaneous reflex compensation during locomotion after nerve section in the cat. J Neurophysiol 2007 Jun;97(6):4173-4185. (PMID: 17392421) IF: 3.684