| The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public RAA van der Spek, W van Rheenen, SL Pulit, KP Kenna, ... Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 20 (5-6), 432-440, 2019 | 68 | 2019 |
| Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations F Akçimen, JP Ross, CV Bourassa, C Liao, D Rochefort, MTD Gama, ... Frontiers in Genetics 10, 1219, 2019 | 67 | 2019 |
| Transcriptome-wide association study of attention deficit hyperactivity disorder identifies associated genes and phenotypes C Liao, AD Laporte, D Spiegelman, F Akçimen, R Joober, PA Dion, ... Nature communications 10 (1), 4450, 2019 | 63 | 2019 |
| Amyotrophic lateral sclerosis: translating genetic discoveries into therapies F Akçimen, ER Lopez, JE Landers, A Nath, A Chiò, R Chia, BJ Traynor Nature Reviews Genetics 24 (9), 642-658, 2023 | 41 | 2023 |
| Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients K Mitropoulos, E Merkouri Papadima, G Xiromerisiou, A Balasopoulou, ... Human genomics 11, 1-10, 2017 | 29 | 2017 |
| CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence? Project MinE ALS Sequencing Consortium, GHP Tazelaar, ... Annals of neurology 84 (1), 110-116, 2018 | 28 | 2018 |
| ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree C Tunca, F Akçimen, C Coşkun, A Gündoğdu-Eken, C Kocoglu, B Çevik, ... European Journal of Human Genetics 26 (5), 745-748, 2018 | 28 | 2018 |
| Transcriptome-wide association study for restless legs syndrome identifies new susceptibility genes F Akçimen, F Sarayloo, C Liao, JP Ross, RDB Oliveira, PA Dion, ... Communications biology 3 (1), 373, 2020 | 17 | 2020 |
| Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease F Akçimen, S Martins, C Liao, CV Bourassa, H Catoire, GA Nicholson, ... Aging (Albany NY) 12 (6), 4742, 2020 | 16 | 2020 |
| Turkish families with juvenile motor neuron disease broaden the phenotypic spectrum of SPG11 C Iskender, E Kartal, F Akcimen, C Kocoglu, A Ozoguz, D Kotan, ... Neurology: Genetics 1 (3), e25, 2015 | 15 | 2015 |
| Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis N Dominik, S Magri, R Currò, E Abati, S Facchini, M Corbetta, ... Brain 146 (12), 5060-5069, 2023 | 14 | 2023 |
| Association of essential tremor with novel risk loci: a genome-wide association study and meta-analysis C Liao, CE Castonguay, K Heilbron, V Vuokila, M Medeiros, G Houle, ... JAMA neurology 79 (2), 185-193, 2022 | 14 | 2022 |
| Evidence for non‐Mendelian inheritance in spastic paraplegia 7 MA Estiar, E Yu, I Haj Salem, JP Ross, K Mufti, F Akçimen, E Leveille, ... Movement Disorders 36 (7), 1664-1675, 2021 | 13 | 2021 |
| A novel homozygous FBXO38 variant causes an early-onset distal hereditary motor neuronopathy type IID F Akçimen, A Vural, H Durmuş, A Çakar, H Houlden, YG Parman, ... Journal of human genetics 64 (11), 1141-1144, 2019 | 13 | 2019 |
| The complex genetic landscape of hereditary ataxias in Turkey and implications in clinical practice A Vural, G Şimşir, Ş Tekgül, C Koçoğlu, F Akcimen, E Kartal, NE Şen, ... Movement Disorders 36 (7), 1676-1688, 2021 | 12 | 2021 |
| Assessing the NOTCH2NLC GGC expansion in European patients with essential tremor C Liao, F Akçimen, M Diez-Fairen, G Houle, JP Ross, Z Schmilovich, ... Brain 143 (11), e89-e89, 2020 | 12 | 2020 |
| Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database C Tunca, T Şeker, F Akcimen, C Coşkun, E Bayraktar, R Palvadeau, S Zor, ... Human mutation 41 (8), e7-e45, 2020 | 12 | 2020 |
| Multiomics analyses identify genes and pathways relevant to essential tremor C Liao, F Sarayloo, D Rochefort, G Houle, F Akçimen, Q He, AD Laporte, ... Movement Disorders 35 (7), 1153-1162, 2020 | 12 | 2020 |
| Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression F Sarayloo, A Dionne-Laporte, H Catoire, D Rochefort, G Houle, JP Ross, ... PLoS One 14 (11), e0225186, 2019 | 11 | 2019 |
| SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome F Sarayloo, D Spiegelman, D Rochefort, F Akçimen, R De Barros Oliveira, ... European Journal of Human Genetics 28 (11), 1520-1528, 2020 | 10 | 2020 |
Guy RouleauMontreal Neurological Institute-Hospital, McGill UniversityVerified email at mcgill.ca
