See Google Scholar or PubMed page for a complete list.


Fiorini, M., Dilliott, AA., Farhan, SMK. Sex-stratified RNA-seq analysis reveals traumatic brain injury-induced transcriptional changes in the female hippocampus conducive to dementia. MedRxiv.

Ross, JP., Akçimen, F., Liao, C., Kwan, K., Schmilovich, Z.,, Spiegelman, D., Genge, A., Dupré, N., Dion, PA., Farhan, SMK., Rouleau, GA. Rare and common variant analyses of ALS in the French-Canadian genome. MedRxiv.

Raghav, Y.,* Dilliot, AA.,* Petrozziello, T.,* Kim, SE, Berry, JD, Cudkowicz, ME, Vakili, K., Fraenkel, E#., Farhan, SMK#, Sadri-Vakili, G#. Identification of novel fusion transcripts in amyotrophic lateral sclerosis post-mortem tissue. *Shared first authorship; #Shared senior authorship. MedRxiv.

Ross, JP., Akcimen, F., Liao, C., Spiegelman, D., Weisburd, B., Dupre, N., Dion, PA., Rouleau, G., Farhan, SMK. Questioning the association of the STMN2 dinucleotide repeat with ALS. Neurology Genetics. 2022. 8:e678. doi:10.1212/NXG.0000000000000678.

Dilliott, AA., Rouleau, GA., Farhan, SMK. Lack of association of TP73 with amyotrophic lateral sclerosis in a large cohort of cases. Neurobiol. Aging. 2022. In Press.

Dilliott, AA., Andary, CM., Stoltz, M., Andrey Petravpovlovskiy, Farhan, SMK., Duennwald, ML. DNAJC7 in amyotrophic lateral sclerosis. Int. J. Mol. Sci. 2022, 23(8), 4076;

Savignac, C., Villeneuve, S., Badhwar, A, Saltoun, K, Shafighi, K., Zajner, C., Sharma, V., Gagliano Taliun, S., Farhan, SMK., Poirier, J., Bzdok, D. APOE ɛ2 vs APOE ɛ4 dosage shows sex-specific links to hippocampus-default network subregion co-variation. BioRxiv.

Sunderland et al., ONDRI Investigators et al. Characteristics of the Ontario Neurodegenerative Disease Research Initiative cohort. Alzheimers. Dement. 2022. In Press.

Valcic, M. ONDRI Investigators et al. Determining whether Sex and Zygosity modulates the association between ApoE4 and Psychosis in Neurodegenerative Disease Cohorts using the ONDRI platform. Am J Geriatr Psychiatry. 2022. In Press.

Eitan, C., Barkan, E., Olender, T., van Eijk, KR., Moisse, M., Farhan, SMK., et al. Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3′UTR protect against ALS. Nature Neuroscience. 2022. In Press.

Yang, JH., Friederich, MW., Ellsworth, KA., Frederick, A., Foreman, E., Malicki, D., Dimmock, D., Lenberg, J., Wong, T., Karp, N., Yu, AC., Rupar, CA., Hegele, RA., Prasad, C., Manickam, M., Crist, E., Koboldt, DC., Harvey, H., Sattar, S., Farhan, SMK., et al. Expanding the phenotypic and molecular spectrum of NFS1-related disorders: A recurrent missense variant in NFS1 causes functional deficiencies in oxidative phosphorylation. Human Mutation. 2022. In Press.

Zhang, S., Cooper-Knock, J., Weimer, AL., Shi, M., Moll, T., Marshall, JNG., Harvey, C., Nezhad, HG., Franklin, H., Souza, C., Ning, K., Wang, C., Li, J., Dilliott, AA., Farhan, SMK., et al. Genome-wide Identification of the Genetic Basis of Amyotrophic Lateral Sclerosis. Neuron. 2021. In Press.

Salem, A., Wilson, CJ., Rutledge, BS., Dilliott, A., Farhan, SMK., Choy, WY., Duennwald, ML. Matrin3: Disorder and ALS Pathogenesis. Frontiers in Molecular Biosciences. 2021. In Press.


Bayne, AN., Dong, J., Amiri, S., Farhan, SMK., Tremp, JF. MTSviewer: a database for visualizing cleavage sites, mutations, and structures of mitochondrial targeting sequences. BioRxiv.

Petrozziello, T., Amaral, AC., Dujardin, S., Farhan, SMK., et al. Novel genetic variants in MAPT and alterations in tau phosphorylation in amyotrophic lateral sclerosis post-mortem motor cortex and cerebrospinal fluid. Brain Pathol. 2021; e13035. doi: 10.1111/bpa.13035.

Cook, L., et al., ClinGen Parkinson's Disease Gene Curation Expert Panel and the MDS Task Force for Recommendations for Genetic Testing in Parkinson's Disease Clinical Genome Resource (ClinGen) Parkinson's Disease Gene Curation Expert Panel Authors. The commercial genetic testing landscape for Parkinson's disease. Parkinsonism & Related Disorders. 2021; 92, 107-111.

Coughlan, G., ONDRI Investigators, et al. Distinct memory networks in Parkinson's disease (PD) and Alzheimer's disease (AD): Effects of APOE. Movement Disorders. 2021. 36; S347-S348.

Petrozziello, T., Bordt, EA., Mills, AN., Kim, SE., Sapp, E., Devlin, BA., Obeng-Marnu, AA, Farhan, SMK., et al. Targeting tau mitigates mitochondrial fragmentation and oxidative stress in amyotrophic lateral sclerosis. Molecular Neurobiology. 2021. Accepted.

Dilliott, AA., Abdelhady, A., Sunderland, KM., Farhan, SMK., et al. Contribution of rare variants to neurodegenerative disease presentation. NPG Genomic Medicine. 2021; 6 (1), 1-9.

Fishman, KN., ONDRI Investigators, et al., Bilingualism in Parkinson’s disease: Relationship to cognition and quality of life. J Clin Exp Neuropsychol. 2021; 43(2):199-212.

Ramirez, J., ONDRI Investigators, et al., MRI-visible perivascular space volumes, sleep duration and daytime dysfunction in adults with cerebrovascular disease. Sleep Medicine. 2021; 83:83-88.

Petrozziello, T., Bordt, EA., Mills, AN., Kim, SE., Sapp, E., Devlin, BA., Obeng-Marnu, AA, Farhan, SMK., et al. Targeting tau mitigates mitochondrial fragmentation and oxidative stress in amyotrophic lateral sclerosis. BioRxiv. 2021.

Volkening, K., Farhan, SMK., et al. Evidence of synergism among three genetic variants in a patient with LMNA‑related lipodystrophy and amyotrophic lateral sclerosis leading to a remarkable nuclear phenotype. Mol. Cell. Biochem. 2021.

Petrozziello, T., Amaral, AC., Dujardin, S., Farhan, SMK., et al. An in-depth analysis of phosphorylated tau in amyotrophic lateral sclerosis post-mortem motor cortex and cerebrospinal fluid. medRxiv. 2021.


Cooper-Knock, J., Zhang, S., Kenna, KP., Moll, T., Franklin, J., Allen, S., Nezhad, HG., Yacovzada, NY., Eitan, C., Hornstein, E., Ehilak, E., Celadova, P., Bose, D., Farhan, SMK., et al. Rare variant burden analysis within enhancers identifies CAV1 as a new ALS risk gene. Cell Reports. In Press. 

Petrozziello, T., Mills, AN., Farhan, SMK., et al. Lipocalin-2 Levels are increased in post-mortem brain and plasma in amyotrophic lateral sclerosis. Muscle & Nerve. 2020; 62(2):272-283. 


Farhan, SMK., Howrigan, DP., Abbott, LE., Byrnes, AE., Churchhouse, C., Phatnani, H., Smith, BN., Topp, SD., Rampersaud, E., Wu, G., Wuu, J., Gubitz, A., Mordes, DA., Ghosh, S., CReATe Consortium, FALS Consortium, ALSGENS Consortium, Eggan, K., Rademakers, R., McCauley, JL., Schule, R., Zuchner, S., Benatar, M., Taylor, JP., Nalls, M., Tarynor, B., Shaw, CE., Goldstein, DB., Harms, MB., Daly, MJ., and Neale, BM. Exome sequencing in amyotrophic lateral sclerosis implicates DNAJC7 as a novel genetic risk factor. Nature Neurosci. 2019; 22(12):1966-1974. 

Reichenstein, I., Eitan, C., Haim, G., Hoye, M., Cohen-Kashi, K., Rivkin, N., Magen, I., Olender, T., Liang, J., Levy, R., Beck, G., Ainbinder, E., Farhan, SMK., et al. Genetic variants in motor neuron specific miR-218 disrupt its ability to regulate neuronal excitability. Science Translational Medicine. 2019; 11(523). 

Lackie, RE., Lopes, MH., Farhan, SMK., et al. Modulation of hippocampal neuronal resilience during aging by the Hsp70/Hsp90 co-chaperone STI1. J Neurochem. 2019; doi: 10.1111/jnc.14882.

Dilliott, AA., Evans, E, Farhan, SMK., et al. Genetic variation in the Ontario Neurodegenerative Disease Research Initiative. Can J Neurol Sci. 2019 Sep;46(5):491-498. doi: 10.1017/cjn.2019.228. Epub 2019 Aug 15.

Spataro, R*., Kousi, M*., Farhan, SMK., et al. Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion. Human Genomics. 2019 Apr 16;13(1):19. doi: 10.1186/s40246-019-0203-9.


Farhan, SMK., et al. OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia. Am J Med Genet B Neuropsychiatr Genet. 2018; 177(1):75-85.

- Image was selected to be featured on the front cover of Am J Med Genet B Neuropsychiatr Genet: Cover Image, Volume 177B, Number 1, January 2018.

Dilliott, AA., Farhan, SMK., et al. Targeted next-generation sequencing and bioinformatics pipeline to evaluate genetic determinants of disease. J. Vis. Exp. 2018. e57266, doi:10.3791/57266.


Farhan, SMK., et al. ARHGEF28 p.Lys280Metfs40Ter in an amyotrophic lateral sclerosis family with a C9orf72 expansion. Neurol Genet. 2017; 3(5):e190. doi: 10.1212/NXG.0000000000000190.

Badalato, L., Farhan, SMK., et al. KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection. Am J Med Genet A. 2017; 173(1):183-189.

Farhan, SMK., et al. Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy. 2017; 26(21):4278-4289.

Farhan, SMK., et al. The Ontario Neurodegenerative Disease Research Initiative (ONDRI). Can J Neurol Sci. 2017; 44(2):196-202.


Farhan, SMK., et al. The ONDRISeq panel: custom designed next generation sequencing of genes related to neurodegeneration. npj Genom Med. 2016; doi:10.1038/npjgenmed.2016.32.

Farhan, SMK., and Prasad, AN. Exploring the Epilepsiome I: Genetics of Age dependent Epileptic Encephalopathies. Pellock's Pediatric Epilepsy: Diagnosis and Therapy, 4th edition. 2016; Chapter 7: 143-161.

Prasad, AN., and Farhan, SMK. Exploring the Epilepsiome II: Approaching the Complex Epilepsies. Pellock's Pediatric Epilepsy: Diagnosis and Therapy, 4th edition. 2016; Chapter 8: 163-174.


Farhan, SMK., and Hegele, RA. Antisenses working overtime in lipids. Nature Rev Endocrinol. 2015; 11(10):574-576.

Farhan, SMK., et al. Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses. J Med Genet. 2015; 52(10):666-675.

Farhan, SMK. Something old, something new: TBK1, a novel gene in known amyotrophic lateral sclerosis pathways. Clin Genet. 2015; 88(4):339-340.


Farhan, SMK., Robinson, JF., McIntyre, AD., Marrosu, MG., Ticca, AF., Carboni, N., and Hegele, RA. A novel homozygous LIPE mutation in patients with familial partial lipodystrophy and muscular dystrophy. Can J Cardiol. 2014; Dec;30(12):1649-1654.

Farhan, SMK., Murphy, LM., Robinson, JF., Wang, J., P., Siu, VM., Rupar, CA., Prasad, AN., and Hegele, RA. Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. Epilepsia. 2014; 55(9):e106-111.

Farhan, SMK., and Hegele, RA. Exome sequencing: new insights into lipoprotein disorders. Curr Cardiol Rep. 2014; 16(7):507-517.

Farhan, SMK., and Hegele, RA. Sequencing: The Next Generation–what is the role of whole-exome sequencing in diagnosis of familial cardiovascular diseases. Can J Cardiol. 2013; 30(2):152-154.

Farhan, SMK., et al. Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster related disease, infantile mitochondrial complex II/III deficiency. Mol Genet and Genomic Med. 2013; 2(1):73-80.

Farhan, SMK., and Hegele, RA. Genetics 101 for cardiologists: rare genetic variants and monogenic cardiovascular disease. Can J Cardiol. 2012; 29(1):18-22.




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