These are publications where the Neuro Bioinformatics Core Facility team contributed to the bioinformatics analysis.
Names are identified in bold

On a preprint server or under review:

  • Andrew N. Bayne, Jing Dong, Saeid Amiri, Sali M.K. Farhan, Jean-François Trempe (2021). MTSviewer: a database to visualize mitochondrial targeting sequences, cleavage sites, and mutations on protein structures. BioRxiv supplementary material

  • Hu J, Waters CH, Spiegelman D, Fon EA, Yu E, Asayesh F, Krohn L, Saini P, Alcalay RN, Hassin-Baer S, Gan-Or Z, Krainc D, Zhang B, Bustos BI and Lubbe SJ. Assessment of private variants in PRKN, PARK7 and PINK1 in Parkinson’s disease. 2022. MedRxiv

  • Rebelo AP, Ruiz A, Dohrn M, Wayand M, Danzi M, Beijer D, Aaron B, Vandrovcova J, Houlden H, Matalonga L, Abreu L, Rouleau GA, Estiar MA, Van der Vondel L, Gan-Or Z, Baets J, Schule R and Zuchner S. BiP inactivation due to loss of the deAMPylation function of FICD causes motor neuron degeneration. 2022. Under review.

  • Krohn L, Heilbron K, Blauwendraat C, Reynolds RH, Yu E, Senkevich K, Rudakou U, Estiar MA, Gustavsson EK, Brolin K, Ruskey JA, Freeman K, Asayesh F, Chia R, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Bernardini A, Högl B, Stefani A, Abubaker I, Sonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Biscarini F, Antelmi E, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Döring F, Cochen De Cock V, Monaca CC, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve BF, 23andMe Research Team, Scholz SW, Ryten M, Bandres-Ciga S, Noyce A, Cannon P, Pihlstrøm L, Nalls MA, Singleton AB, Rouleau GA, Postuma RB and Gan-Or Z. Genome-wide association study of REM sleep behavior disorder identifies novel loci with distinct polygenic and brain expression effects. Under review. 2022. MedRxiv

  • Varghaei P, Estiar MA, Ashtiani S, Veyron S, Mufti K, Leveille E, Yu E, Spiegelman D, Rioux MF, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, Suchowersky O, Trempe JF, Rouleau GA and Gan-Or Z. Genetic, structural and clinical analysis of spastic paraplegia 4. Under review. 2022. MedRxiv

Published:

2022

  • Alenezi WM, Milano L, Fierheller CT, Serruya C, Revil T, Oros KK, Behl S, Arcand SL, Nayar P, Spiegelman D, Gravel S, Mes-Masson AM, Provencher D, Foulkes WD, Haffaf ZE, Rouleau G, Bouchard L, Greenwood CMT, Masson JY, Ragoussis J, Tonin PN. The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population. Cancers. 2022 Apr 30;14(9):2251. DOI. PubMed 35565380

  • Larrivée-Vanier S, Jean-Louis M, Magne F, Bui H, Rouleau GA, Spiegelman D, Samuels ME, Kibar Z, Van Vliet G, Deladoëy J. Whole exome sequencing in congenital hypothyroidism due to thyroid dysgenesis. Thyroid. 2022 Mar 10. DOI. PubMed 35272499

  • Sosero YL, Yu E, Estiar MA, Krohn L, Mufti K, Rudakou U, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Trempe JF, Quinnell TG, Oscroft N, Arnulf I, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Bernardini A, Sonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Antelmi E, Biscarini F, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Döring F, Cochen De Cock V, Monaca CC, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve BF, Postuma RB, Rouleau GA, Ibrahim A, Stefani A, Högl B, Hu MTM, Gan-Or Z. Rare PSAP Variants and Possible Interaction with GBA in REM Sleep Behavior Disorder. J Parkinsons Dis. 2022;12(1):333-340. DOI. PubMed 34690151

2021

  • Suchowersky O, Ashtiani S, Au PYB, McLeod S, Estiar MA, Gan-Or Z and Rouleau GA. Hereditary spastic paraplegia initially diagnosed as cerebral palsy. Clinical Parkinsonism & Related Disorders. 2021. 5:100114 PubMed 34816117

  • Sosero YL, Yu E, Estiar MA, Mufti K, Rudakou U, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Trempe JF, Quinnell TG, Oscroft N, Arnulf I, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Bernardini A, Sonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Antelmi E, Biscarini F, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Döring F, Cochen De Cock V, Monaca CC, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve BF, Postuma RB, Rouleau GA, Ibrahim A, Stefani A, Högl B, Hu MTM, and Gan-Or Z. Rare PSAP variants and possible interaction with GBA in REM sleep behavior disorder. Journal of Parkinson’s disease. 2021. 12(1):333-340. MedRxiv, PubMed 34548497:

  • Yu E, Ambati A, Andersen MS, Krohn L, Estiar MA, Saini P, Senkevich K, Sosero YL, Sreelatha AAK, Ruskey JA, Asayesh F, Spiegelman D, Toft M, Viken MK, the International Parkinson’s Disease Genomics Consortium (IPDGC), Sharma M, Blauwendraat C, Pihlstrøm L, Mignot E and Gan-Or Z. Fine mapping of the HLA locus in Parkinson’s disease in Europeans. npj Parkinson’s Disease. 2021. 7(1):84. MedRxiv PubMed 34548497

  • Sosero YL, Yu E, Krohn L, Rudakou U, Mufti K, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Fahn S, Waters C, Sardi SP, International Parkinson Disease Genomics Consortium (IPDGC), Bandres-Ciga S, Alcalay RN, Gan-Or Z and Senkevich K. LRRK2 p.M1646T is associated with glucocerebrosidase activity and with Parkinson’s disease. Neurobiology of Aging. 2021. S0197-4580(21)00073-7. MedRxiv PubMed 33781610

  • Varghaei P, Yoon G, Estiar MA, Veyron S, Etienne Leveille, Dupre N, Trempe JF, Rouleau GA and Gan-Or Z. GCH1 mutations in hereditary spastic paraplegia. Clinical Genetics. 2021. 100(1):51-58. MedRxiv PubMed 33713342

  • Estiar MA, Yu E, Haj Salem I, Ross JP, Mufti K, Akçimen F, Leveille E, Spiegelman D, Ruskey JA, Asayesh F, Dagher A, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, Dion PA, Suchowersky O, Trempe JF, Rouleau GA and Gan-Or Z. Evidence for non-Mendelian inheritance in spastic paraplegia 7. Movement Disorders. 2021. 36(7):1664-1675. MedRxiv PubMed 33598982

  • Mufti K, Yu E, Rudakou U, Krohn L, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Bernardini A, Högl B, Stefani A, Holzknecht E, Sonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Antelmi E, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Döring F, Cochen De Cock V, Monaca CC, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve B, Trempe JF, Rouleau GA, Postuma RB and Gan-Or Z. Novel associations of BST1 and LAMP3 with rapid eye movement sleep behavior disorder. Neurology. 2021. 96(10):e1402-e1412. MedRxiv PubMed 33397775

  • Haj Salem I, Beaudin M, Stumpf M, Estiar MA, Côté PO, Brunet F, Gamache PL, Rouleau GA, Mourabit-Amari K, Gan-Or Z and Dupré N. Genetic and epidemiological study of adult onset hereditary ataxia and spastic paraplegia in Eastern Quebec. Canadian Journal of Neurological Sciences. 2021. 5:1-11. PubMed 33397523

  • Rudakou U, Yu E, Krohn L, Ruskey JA, Asayesh F, Dauvilliers Y, Spiegelman D, Greenbaum L, Fahn S, Waters CH, Dupré N, Rouleau GA, Hassin-Baer S, Fon EA, Alcalay RN, Gan-Or Z. Targeted sequencing of Parkinson’s disease loci genes highlights SYT11, FGF20 and other associations. Brain. 2021 Mar 3;144(2):462-472. DOI PubMed 33349842

  • Saini P, Rudakou U, Yu E, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Espay AJ, Rouleau GA, Alcalay RN, Fon EA, Postuma RB, Gan-Or Z. Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson’s disease. Neurobiol Aging. 2021 Apr;100:119.e7-119.e13. DOI PubMed 33239198

  • Akçimen F, Ross JP, Liao C, Spiegelman D, Dion PA, Rouleau GA. Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project. Mov Disord. 2021 Feb;36(2):514-518. DOI. PubMed 33159825

  • Mufti K, Rudakou U, Yu E, Krohn L, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Högl B, Stefani A, Holzknecht E, Šonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Antelmi E, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Döring F, Cochen De Cock V, Monaca CC, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve BF, Postuma RB, Rouleau GA, Gan-Or Z. 2020 Oct 1. Comprehensive Analysis of Familial Parkinsonism Genes in Rapid-Eye-Movement Sleep Behavior Disorder. Mov Disord. 2021 Jan;36(1):235-240. DOI PubMed 33001463

  • Yu E, Rudakou U, Krohn L, Mufti K, Ruskey JA, Asayesh F, Estiar MA, Spiegelman D, Surface M, Fahn S, Waters CH, Greenbaum L, Espay AJ, Dauvilliers Y, Dupré N, Rouleau GA, Hassin-Baer S, Fon EA, Alcalay RN, Gan-Or Z. Analysis of Heterozygous PRKN Variants and Copy-Number Variations in Parkinson’s Disease. Mov Disord. 2021 Jan;36(1):178-187. DOI PubMed 32970363

If you know of additional publications or preprints we should include here, please let us know: neurobioinfo@mcgill.ca