| 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 | 110 | 2019 |
| 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 | 92 | 2017 |
| 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 | 76 | 2014 |
| 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 | 72 | 2022 |
| 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 | 68 | 2014 |
| 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 | 48 | 2019 |
| 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 | 41 | 2017 |
| 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 | 39 | 2019 |
| 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 | 37 | 2014 |
| 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 | 35 | 2015 |
| 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 | 31 | 2016 |
| Pellock's pediatric epilepsy: Diagnosis and Therapy DR Nordli Jr, JM Pellock, R Sankar, JW Wheless Springer Publishing Company, 2016 | 30 | 2016 |
| 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 | 26 | 2017 |
| 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 | 24 | 2020 |
| Exome sequencing: new insights into lipoprotein disorders SMK Farhan, RA Hegele Current cardiology reports 16, 1-10, 2014 | 24 | 2014 |
| 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 | 23 | 2022 |
| 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 | 21 | 2022 |
| 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 | 19 | 2023 |
| 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 | 18 | 2022 |
Rob HegeleWestern University, Robarts Research InstituteVerified email at robarts.ca
