Selected Publications

1) Watt KE, Macintosh J, Bernard G, Trainor PA. RNA Polymerases I and III in development and disease. Semin Cell Dev Biol. 2022 Apr 11;S1084-9521(22)00100-8. Epub ahead of print. doi: 10.1016/j.semcdb.2022.03.027. (PMID: 35422389)

2) Amir Yazdani P, St-Jean ML, Matovic S, Spahr A, Tran LT, Boucher RM, Poulin C, Osterman B, Srour M, Rosenblatt B, Chenier S, Soucy JF, Laberge AM, Braverman N, D'Agostino MD, Nguyen CE, Morsa M, Bernard G. Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 Pandemic. J Child Neurol. 2022 Mar;37(4):237-245. doi: 10.1177/08830738211065317. Epub 2022 Jan 5. (PMID: 34986037; PMCID: PMC9066235)

3) Lemire G, Ito YA, Marshall AE, Chrestian N, Stanley V, Brady L, Tarnopolsky M, Curry CJ, Hartley T, Mears W, Derksen A, Rioux N, Laflamme N, Hutchison HT, Pais LS, Zaki MS, Sultan T, Dane AD, Care4Rare Canada Consortium, Gleeson JG, Vaz FM, Kernohan KD, Bernard G^^, Boycott KM^^. ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and anomalies of the corpus callosum and cerebral white matter. Am J Hum Genet. 2021 Oct 7;108(10):2017-2023. Epub 2021 Sep 28. doi: 10.1016/j.ajhg.2021.09.005. (PMID: 34587489) IF: 10.502

4) Derksen A^, Shih HY^, Forget D, Darbelli L, Tran LT, Poitras C, Guerrero K, Tharun S, Alkuraya FS, Kurdi WI, Nguyen CTE, Laberge AM, Si Y, Gauthier MS, Bonkowsky J^^, Coulombe B^^, Bernard G^^. Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra rare neurological disease. Human Genetics and Genomics Advances (HGG) 2021 Jul 08;2(3):1-13. https://doi.org/10.1016/j.xhgg.2021.100034.

5) Spahr A, Rosli Z, Legault M, Tran LT, Fournier S, Toutounchi H, Darbelli L, Medjar C, Lucia C, St-Jean ML, Das S, Evans AC, Bernard G. The LORIS MyeliNeuroGene Rare Disease Database for Natural History Studies and Clinical Trial Readiness. Orphanet J Rare Dis. 2021 Jul 23;16(1):328. https://doi.org/10.1186/s13023-021-01953-8 (PMID: 34301277). IF: 3.687 *

6) Perrier S^, Robinson-Michell M^, Bernard G. POLR3-related Leukodystrophy: Exploring Potential Therapeutic Approaches. Front Cell Neurosci, 2021 Jan 28; 14: 631802. https://doi.org/10.3389/fncel.2020.631802. IF: 4.55 *

7) Pelletier F^, Perrier S^, Cayami FK^, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sebire G, Marques Lourenco C, Bonkowsky JL, Catsman-Berrevoets C , Pinto PS, Tirupathi S, Stromme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkınay F, Patzer S, Pedro H, Pekic S, Marfa MP, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofzik M, Sztriha L, Tibussek D, Timmann D, Tonduti D, van de Warrenburg BP, Vázquez-López M, Venkateswaran S, Wasling P, Wassmer E, Webster RI, Wiegand G, Yoon G, Rotteveel J, Schiffmann R, van der Knaap M, Vanderver A, Martos-Moreno GA, Polychronakos C^, Wolf NI ^, Bernard G^.  Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.  J Clin Endocrinol Metab 2021 Jan 23;106(2):e660-e674. doi: 10.1210/clinem/dgaa700. (PMID: 33005949). IF: 5.05 *

8) Perrier S^, Gauquelin L^, Fallet-Bianco C, Dishop MK, Michell-Robinson MA, Tran LT, Guerrero K, Darbelli L, Srour M, Petrecca K, Renaud DL, Saito M, Cohen, S, Leiz S, Alhaddad B, Haack TB, Tejera-Martin I, Monton FI, Rodriguez Espinosa N, Pohl D, Nageswaran S, Grefe A, Glamuzina E, Bernard G. Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy. Neurol Genet, 2020 May 11;6(3):e425. doi: https://doi.org/10.1212/NXG.0000000000000425. (PMID:32582862)*

9) Vanderver A^, Bernard G^, Helman G, Sherbini O, Boeck R, Cohn J, Collins A, Demarest S, Dobbins K, Emrick L, Fraser J, Masser-Frye D, Hayward J, Karmarkar S, Keller S, Mirrop S, Mitchell W, Pathak S, Sherr E, van Haren K, Waters E, Wilson JL, Zhorne L, Schiffmann R, van der Knaap MS, Pizzino A, Dubbs H, Shults J, Simons C, Taft RJ, on behalf of the LeukoSEQ Workgroup. Randomized clinical trial of first-line genome sequencing in pediatric white matter disorders. Clinical trial of first-line genome sequencing in pediatric white matter disease. Ann Neurol. 2020 Apr 28. doi: 10.1002/ana.25757. [Epub ahead of print] (PMID: 32342562) IF: 9.496

10) 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):e369. doi: 10.1212/NXG.0000000000000369 * (PMID: 32042905)

11) 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 Commun 2019 Feb 12;10(1):707. doi: 10.1038/s41467-018-07067-3 (PMID: 30755602). IF: 12.124

12) 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 (PMID: 29576217) IF: 9.025 *

13) 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 POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nature Commun. 2015 Jul 7;6:7623. doi: 10.1038/ncomms8623 (PMID: 26151409). IF: 11.470

14) 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 POLR3Aand POLR3B mutations. Neurology2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002 (PMID: 25339210) IF: 8.286

15) 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. doi: 10.16/j.ajhg.2011.10.006  (PMID: 22036172) IF: 11.202 *

16) 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. doi:  10.1016/j.ajhg.2011.07.014 (PMID: 21855841) IF: 11.202