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Nasim Vasli
Nasim Vasli
在 camh.ca 的电子邮件经过验证
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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
2152013
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
1822018
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
1082012
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
872015
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
832014
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
802014
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
732013
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
612013
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
552017
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
522015
Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders
N Vasli, J Laporte
Acta Neuropathologica 125, 173-185, 2013
452013
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
422015
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
422010
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
392017
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
372018
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
322020
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
322014
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
262014
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
212016
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
152021
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