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Sali Farhan, PhD
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Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein
SMK Farhan, DP Howrigan, LE Abbott, JR Klim, SD Topp, AE Byrnes, ...
Nature neuroscience 22 (12), 1966-1974, 2019
1092019
The Ontario neurodegenerative disease research initiative (ONDRI)
SMK Farhan, R Bartha, SE Black, D Corbett, E Finger, M Freedman, ...
Canadian Journal of Neurological Sciences 44 (2), 196-202, 2017
922017
A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy
SMK Farhan, JF Robinson, AD McIntyre, MG Marrosu, AF Ticca, S Loddo, ...
Canadian Journal of Cardiology 30 (12), 1649-1654, 2014
762014
Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis
S Zhang, J Cooper-Knock, AK Weimer, M Shi, T Moll, JNG Marshall, ...
Neuron 110 (6), 992-1008. e11, 2022
712022
Exome sequencing identifies NFS1 deficiency in a novel Fe‐S cluster disease, infantile mitochondrial complex II/III deficiency
SMK Farhan, J Wang, JF Robinson, P Lahiry, VM Siu, C Prasad, ...
Molecular genetics & genomic medicine 2 (1), 73-80, 2014
682014
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion
R Spataro, M Kousi, SMK Farhan, JR Willer, JP Ross, PA Dion, ...
Human genomics 13, 1-10, 2019
482019
Targeted Next-Generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
J. Vis. Exp. (), e57266, doi:10.3791/57266 (2018)., 2018
47*2018
Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy
SMK Farhan, KCJ Nixon, M Everest, TN Edwards, S Long, D Segal, ...
Human Molecular Genetics, 1–12, 2017
412017
Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology
I Reichenstein, C Eitan, S Diaz-Garcia, G Haim, I Magen, A Siany, ...
Science translational medicine 11 (523), eaav5264, 2019
392019
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia
SMK Farhan, LM Murphy, JF Robinson, J Wang, VM Siu, CA Rupar, ...
Epilepsia 55 (9), e106-e111, 2014
372014
Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses
SMK Farhan, J Wang, JF Robinson, AN Prasad, CA Rupar, VM Siu, ...
Journal of Medical Genetics 52 (10), 666-675, 2015
352015
The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration
SMK Farhan, AA Dilliott, M Ghani, C Sato, E Liang, M Zhang, AD McIntyre, ...
NPJ Genomic Medicine 1 (1), 1-11, 2016
312016
Pellock's pediatric epilepsy: Diagnosis and Therapy
DR Nordli Jr, JM Pellock, R Sankar, JW Wheless
Springer Publishing Company, 2016
302016
KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection
L Badalato, SMK Farhan, AA Dilliott, Care4Rare Canada Consortium, ...
American Journal of Medical Genetics Part A 173 (1), 183-189, 2017
262017
Rare variant burden analysis within enhancers identifies CAV1 as an ALS risk gene
J Cooper-Knock, S Zhang, KP Kenna, T Moll, JP Franklin, S Allen, ...
Cell Reports 33 (9), 2020
242020
Exome sequencing: new insights into lipoprotein disorders
SMK Farhan, RA Hegele
Current cardiology reports 16, 1-10, 2014
242014
Whole-genome sequencing reveals that variants in the interleukin 18 receptor accessory protein 3′ UTR protect against ALS
C Eitan, A Siany, E Barkan, T Olender, KR van Eijk, M Moisse, ...
Nature neuroscience 25 (4), 433-445, 2022
232022
Targeting tau mitigates mitochondrial fragmentation and oxidative stress in amyotrophic lateral sclerosis
T Petrozziello, EA Bordt, AN Mills, SE Kim, E Sapp, BA Devlin, ...
Molecular neurobiology 59 (1), 683-702, 2022
212022
Characteristics of the Ontario neurodegenerative disease research initiative cohort
KM Sunderland, D Beaton, SR Arnott, P Kleinstiver, D Kwan, ...
Alzheimer's & Dementia 19 (1), 226-243, 2023
192023
Novel genetic variants in MAPT and alterations in tau phosphorylation in amyotrophic lateral sclerosis post‐mortem motor cortex and cerebrospinal fluid
T Petrozziello, AC Amaral, S Dujardin, SMK Farhan, J Chan, ...
Brain Pathology 32 (2), e13035, 2022
182022
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Articles 1–20