| Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy O Ceyhan-Birsoy, PB Agrawal, C Hidalgo, K Schmitz-Abe, ET DeChene, ... Neurology 81 (14), 1205-1214, 2013 | 215 | 2013 |
| Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families R Harripaul, N Vasli, A Mikhailov, MA Rafiq, K Mittal, C Windpassinger, ... Molecular psychiatry 23 (4), 973-984, 2018 | 182 | 2018 |
| Next generation sequencing for molecular diagnosis of neuromuscular diseases N Vasli, J Böhm, S Le Gras, J Muller, C Pizot, B Jost, A Echaniz-Laguna, ... Acta neuropathologica 124, 273-283, 2012 | 108 | 2012 |
| VaRank: a simple and powerful tool for ranking genetic variants V Geoffroy, C Pizot, C Redin, A Piton, N Vasli, C Stoetzel, A Blavier, ... PeerJ 3, e796, 2015 | 87 | 2015 |
| Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations J Böhm, V Biancalana, E Malfatti, N Dondaine, C Koch, N Vasli, W Kress, ... Brain 137 (12), 3160-3170, 2014 | 83 | 2014 |
| Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability R Law, T Dixon-Salazar, J Jerber, N Cai, AA Abbasi, MS Zaki, K Mittal, ... The American Journal of Human Genetics 95 (6), 721-728, 2014 | 80 | 2014 |
| Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy J Böhm, N Vasli, M Maurer, B Cowling, GD Shelton, W Kress, A Toussaint, ... PLoS genetics 9 (6), e1003430, 2013 | 73 | 2013 |
| An integrated diagnosis strategy for congenital myopathies J Böhm, N Vasli, E Malfatti, S Le Gras, C Feger, B Jost, N Monnier, ... PLoS One 8 (6), e67527, 2013 | 61 | 2013 |
| Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues V Biancalana, S Scheidecker, M Miguet, A Laquerrière, NB Romero, ... Acta neuropathologica 134, 889-904, 2017 | 55 | 2017 |
| Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment I Ahmed, R Buchert, M Zhou, X Jiao, K Mittal, TI Sheikh, U Scheller, ... Human molecular genetics 24 (11), 3172-3180, 2015 | 52 | 2015 |
| Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders N Vasli, J Laporte Acta Neuropathologica 125, 173-185, 2013 | 45 | 2013 |
| Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability A Heidari, C Tongsook, R Najafipour, L Musante, N Vasli, M Garshasbi, ... Human molecular genetics 24 (20), 5697-5710, 2015 | 42 | 2015 |
| Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations V Tosch, N Vasli, C Kretz, AS Nicot, C Gasnier, N Dondaine, D Oriot, ... Neuromuscular Disorders 20 (6), 375-381, 2010 | 42 | 2010 |
| Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion N Vasli, E Harris, J Karamchandani, E Bareke, J Majewski, NB Romero, ... Brain 140 (1), 37-48, 2017 | 39 | 2017 |
| Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR) MS Lebo, KR Zakoor, K Chun, MD Speevak, JS Waye, E McCready, ... Genetics in Medicine 20 (3), 294-302, 2018 | 37 | 2018 |
| De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder GM Mirzaa, JX Chong, A Piton, B Popp, K Foss, H Guo, R Harripaul, K Xia, ... Genetics in Medicine 22 (3), 538-546, 2020 | 32 | 2020 |
| Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family A Mir, K Sritharan, K Mittal, N Vasli, C Araujo, T Jamil, MA Rafiq, Z Anwar, ... Human genetics 133, 975-984, 2014 | 32 | 2014 |
| Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13. 1 in a large consanguineous family from Pakistan with congenital mirror … I Ahmed, K Mittal, TI Sheikh, N Vasli, MA Rafiq, A Mikhailov, M Ohadi, ... Human genetics 133, 1419-1429, 2014 | 26 | 2014 |
| Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disability N Vasli, I Ahmed, K Mittal, M Ohadi, A Mikhailov, MA Rafiq, A Bhatti, ... Psychiatric genetics 26 (2), 66-73, 2016 | 21 | 2016 |
| Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability TI Sheikh, N Vasli, S Pastore, K Kharizi, R Harripaul, Z Fattahi, S Pande, ... Translational psychiatry 11 (1), 1, 2021 | 15 | 2021 |
