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Sali M.K. Farhan

Observed names: Farhan, Sali M K, Farhan, Sali M. K., Farhan, Sali M.K., S.M.K. Farhan, Sali Farhan, Sali M Farhan, Sali M K Farhan, Sali M. Farhan, Sali M. K. Farhan, Sali MK Farhan
Observed institutions: Broad Institute, Western University, Montreal Neurological Institute and Hospital, Mayo Clinic, Harvard University, Massachusetts General Hospital, Mayo Clinic in Florida, Stanley Center for Psychiatric Research, Robarts Research Institute, McGill University, Massachusetts Institute of Technology
ORCID: 0000-0001-5936-0957
Observed ORCID: 0000-0001-5936-0957
OpenAlex ID: A5055985504
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein
2019 · Sali M. K. Farhan, Daniel P. Howrigan, et al. · Nature Neuroscience · 147
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Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis
2022 · Sai Zhang, Johnathan Cooper-Knock, et al. · Neuron · 116
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The Ontario Neurodegenerative Disease Research Initiative (ONDRI)
2016 · Sali M. K. Farhan, Robert Bartha, et al. · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · 102
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A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial Partial Lipodystrophy
2014 · Sali M.K. Farhan, John F. Robinson, et al. · Canadian Journal of Cardiology · 79
Exome sequencing identifies NFS 1 deficiency in a novel Fe‐S cluster disease, infantile mitochondrial complex II / III deficiency
2013 · Sali M. K. Farhan, Jian Wang, et al. · Molecular Genetics & Genomic Medicine · 76
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Association of plasma biomarkers with cognition, cognitive decline, and daily function across and within neurodegenerative diseases: Results from the Ontario Neurodegenerative Disease Research Initiative
2023 · Erlan Sanchez, Tim Wilkinson, et al. · Alzheimer s & Dementia · 60
Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology
2019 · Irit Reichenstein, Chen Eitan, et al. · Science Translational Medicine · 56
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion
2019 · Rossella Spataro, Maria Kousi, et al. · Human Genomics · 55
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Targeting Tau Mitigates Mitochondrial Fragmentation and Oxidative Stress in Amyotrophic Lateral Sclerosis
2021 · Tiziana Petrozziello, Evan A. Bordt, et al. · Molecular Neurobiology · 49
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Cognitive correlates of antisaccade behaviour across multiple neurodegenerative diseases
2023 · Heidi C Riek, Donald C Brien, et al. · Brain Communications · 43
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
2018 · Allison A. Dilliott, Sali M.K. Farhan, et al. · Journal of Visualized Experiments · 43
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Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy
2017 · Sali M K Farhan, Kevin C J Nixon, et al. · Human Molecular Genetics · 43
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Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene
2020 · Johnathan Cooper-Knock, Sai Zhang, et al. · Cell Reports · 39
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Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3′UTR protect against ALS
2022 · Chen Eitan, Aviad Siany, et al. · Nature Neuroscience · 38
The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration
2016 · Sali M K Farhan, Allison A Dilliott, et al. · npj Genomic Medicine · 35
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Linkage analysis and exome sequencing identify a novel mutation in KCTD 7 in patients with progressive myoclonus epilepsy with ataxia
2014 · Sali M. K. Farhan, Lisa M. Murphy, et al. · Epilepsia · 34
Association of Plasma Biomarkers With Longitudinal Atrophy and Microvascular Burden on MRI Across Neurodegenerative and Cerebrovascular Diseases
2025 · Erlan Sanchez, Gillian T. Coughlan, et al. · Neurology · 33
Transcriptomics of Human Brain Tissue in Parkinson’s Disease: a Comparison of Bulk and Single-cell RNA Sequencing
2024 · Michael R. Fiorini, Allison A. Dilliott, et al. · Molecular Neurobiology · 31
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Novel genetic variants in MAPT and alterations in tau phosphorylation in amyotrophic lateral sclerosis post‐mortem motor cortex and cerebrospinal fluid
2021 · Tiziana Petrozziello, Ana C. Amaral, et al. · Brain Pathology · 31
The commercial genetic testing landscape for Parkinson's disease
2021 · Lola Cook, Jeanine Schulze, et al. · Parkinsonism & Related Disorders · 30
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DnaJC7 in Amyotrophic Lateral Sclerosis
2022 · Allison A. Dilliott, Catherine M. Andary, et al. · International Journal of Molecular Sciences · 29
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Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses
2015 · Sali M K Farhan, Jian Wang, et al. · Journal of Medical Genetics · 29
Contribution of rare variant associations to neurodegenerative disease presentation
2021 · Allison A. Dilliott, Abdalla Abdelhady, et al. · npj Genomic Medicine · 24
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Recent advances in the genetics of familial and sporadic ALS
2024 · Ammar Al-Chalabi, Jinsy Andrews, et al. · International review of neurobiology · 23
MRI-visible perivascular space volumes, sleep duration and daytime dysfunction in adults with cerebrovascular disease
2021 · Joel Ramirez, Melissa F. Holmes, et al. · Sleep Medicine · 23
Works count: 103
Citation count: 1,724
H-index: 23
I10-index: 44
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