Farhan, Sali M K

Exome sequencing identifies NFS 1 deficiency in a novel Fe‐S cluster disease, infantile mitochondrial complex II/III deficiency

Farhan, S. M. K., Wang, J., Robinson, J. F., Lahiry, P., Siu, V. M., Prasad, C., Kronick, J. B., Ramsay, D. A., Rupar, C. A., & Hegele, R. A. (2014) · Molecular Genetics & Genomic Medicine

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 76

Association of plasma biomarkers with cognition, cognitive decline, and daily function across and within neurodegenerative diseases: Results from the Ontario Neurodegenerative Disease Research Initiative

Sanchez, E., Wilkinson, T., Coughlan, G., Mirza, S., Baril, A., Ramirez, J., Binns, M. A., Black, S. E., Borrie, M., Dilliott, A. A., et al. (2024) · Alzheimer's & Dementia

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

Cited by 62

Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy

Farhan, S. M. K., Nixon, K. C. J., Everest, M., Edwards, T. N., Long, S., Segal, D., Knip, M. J., Arts, H. H., Chakrabarti, R., Wang, J., et al. (2017) · Human Molecular Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 43

Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3′UTR protect against ALS

Eitan, C., Siany, A., Barkan, E., Olender, T., van Eijk, K. R., Moisse, M., Farhan, S. M. K., Danino, Y. M., Yanowski, E., Marmor-Kollet, H., et al. (2022) · Nature Neuroscience

Amyotrophic Lateral Sclerosis ResearchMultiple Sclerosis Research Studies

Cited by 38

Lipocalin‐2 is increased in amyotrophic lateral sclerosis

Petrozziello, T., Mills, A. N., Farhan, S. M. K., Mueller, K. A., Granucci, E. J., Glajch, K. E., Chan, J., Chew, S., Berry, J. D., & Sadri‐Vakili, G. (2020) · Muscle & Nerve

Amyotrophic Lateral Sclerosis ResearchNeuroinflammation and Neurodegeneration Mechanisms

Cited by 17

Characterizing proteomic and transcriptomic features of missense variants in amyotrophic lateral sclerosis genes

Dilliott, A. A., Rouleau, G. A., Iqbal, S., & Farhan, S. M. K. (2022) · Brain

Amyotrophic Lateral Sclerosis ResearchGenomics and Rare Diseases

Cited by 8

Characterizing proteomic and transcriptomic features of missense variants in amyotrophic lateral sclerosis genes

Dilliott, A. A., Kwon, S., Rouleau, G. A., Iqbal, S., & Farhan, S. M. K. (2023) · Brain

Amyotrophic Lateral Sclerosis ResearchGenomics and Rare Diseases

Cited by 8

Enhancing variant of uncertain significance (VUS) interpretation in neurogenetics: collaborative experiences from a tertiary care centre

Horowitz, K., Fotopoulos, N. H., Mistry, A. J., Simo, J., Medeiros, M., Bucco, I. D., Ginsberg, M., Dwosh, E., La Piana, R., Rouleau, G. A., et al. (2025) · Journal of Medical Genetics

Genomics and Rare DiseasesGenetic Neurodegenerative Diseases

Cited by 5

Enhancing Variant of Uncertain Significance (VUS) Interpretation in Neurogenetics: Collaborative Experiences from a Tertiary Care Centre

Horowitz, K., Fotopoulos, N. H., Mistry, A. J., Simo, J., Medeiros, M., Bucco, I. D., Ginsberg, M., Dwosh, E., La Piana, R., Rouleau, G. A., et al. (2024) · Journal of Medical Genetics

Genomics and Rare DiseasesGenetic Neurodegenerative Diseases

Cited by 5