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1

Genetics 101 for Cardiologists: Rare Genetic Variants and Monogenic Cardiovascular Disease

Farhan, Sali M.K., Hegele, Robert A.

Journal:

Canadian Journal of Cardiology

Year:

2013

File:

PDF, 504 KB

2013

2

Sequencing: The Next Generation—What Is the Role of Whole-Exome Sequencing in the Diagnosis of Familial Cardiovascular Diseases?

Farhan, Sali M.K., Hegele, Robert A.

Journal:

Canadian Journal of Cardiology

Year:

2014

Language:

english

File:

PDF, 157 KB

english, 2014

3

Exome Sequencing: New Insights into Lipoprotein Disorders

Farhan, Sali M. K., Hegele, Robert A.

Journal:

Current Cardiology Reports

Year:

2014

Language:

english

File:

PDF, 234 KB

english, 2014

4

Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency

Farhan, Sali M. K., Wang, Jian, Robinson, John F., Lahiry, Piya, Siu, Victoria M., Prasad, Chitra, Kronick, Jonathan B., Ramsay, David A., Rupar, C. Anthony, Hegele, Robert A.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 1.51 MB

english, 2014

5

Discussion

Farhan, Sali M. K., Wang, Jian, Robinson, John F., Lahiry, Piya, Siu, Victoria M., Prasad, Chitra, Kronick, Jonathan B., Ramsay, David A., Rupar, C. Anthony, Hegele, Robert A.

Journal:

Journal of Vascular Surgery

Year:

1985

Language:

english

File:

PDF, 330 KB

english, 1985

6

Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia

Farhan, Sali M. K., Murphy, Lisa M., Robinson, John F., Wang, Jian, Siu, Victoria M., Rupar, C. Anthony, Prasad, Asuri N., Hegele, Robert A.

Journal:

Year:

2014

Language:

english

File:

PDF, 301 KB

english, 2014

7

A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial Partial Lipodystrophy

Farhan, Sali M.K., Robinson, John F., McIntyre, Adam D., Marrosu, Maria G., Ticca, Anna F., Loddo, Sara, Carboni, Nicola, Brancati, Francesco, Hegele, Robert A.

Journal:

Canadian Journal of Cardiology

Year:

2014

Language:

english

File:

PDF, 699 KB

english, 2014

8

Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses

Farhan, Sali M K, Wang, Jian, Robinson, John F, Prasad, Asuri N, Rupar, C Anthony, Siu, Victoria M, Hegele, Robert A

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 718 KB

english, 2015

9

Trial Watch: Antisenses working overtime in lipids

Farhan, Sali M. K., Hegele, Robert A.

Journal:

Nature Reviews Endocrinology (formerly Nature Clinical Practice Endocrinology & Metabolism)

Year:

2015

Language:

english

File:

PDF, 171 KB

english, 2015

10

KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection

Badalato, Lauren, Farhan, Sali M. K., Dilliott, Allison A., Bulman, Dennis E., Hegele, Robert A., Goobie, Sharan L.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 263 KB

english, 2017

11

The Ontario Neurodegenerative Disease Research Initiative (ONDRI)

Farhan, Sali M. K., Bartha, Robert, Black, Sandra E., Corbett, Dale, Finger, Elizabeth, Freedman, Morris, Greenberg, Barry, Grimes, David A., Hegele, Robert A., Hudson, Chris, Kleinstiver, Peter W., L

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2017

File:

PDF, 180 KB

2017

12

Antioxidant effect of frankincense extract in the brain cortex of diabetic rats

Masoud, Anwar, Al-Ghazali, Mohammad, Al-Futini, Fatima, Al-Mansori, Anisah, Al-Subahi, Abdulalim, Farhan, Abdulrahman, Al-Sharafi, Majdaldeen, Al-absi, Reham, Al-Matari, Sali

Journal:

Journal of the Association of Arab Universities for Basic and Applied Sciences

Year:

2016

Language:

english

File:

PDF, 1.22 MB

english, 2016

13

The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration

Farhan, Sali M K, Dilliott, Allison A, Ghani, Mahdi, Sato, Christine, Liang, Eric, Zhang, Ming, McIntyre, Adam D, Cao, Henian, Racacho, Lemuel, Robinson, John F, Strong, Michael J, Masellis, Mario, St

Journal:

npj Genomic Medicine

Year:

2016

Language:

english

File:

PDF, 890 KB

english, 2016

14

ARHGEF28 p.Lys280Metfs40Ter in an amyotrophic lateral sclerosis family with a C9orf72 expansion

Farhan, Sali M.K., Gendron, Tania F., Petrucelli, Leonard, Hegele, Robert A., Strong, Michael J.

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 306 KB

english, 2017

15

OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia

Farhan, Sali M. K., Gendron, Tania F., Petrucelli, Leonard, Hegele, Robert A., Strong, Michael J.

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2017

Language:

english

File:

PDF, 717 KB

english, 2017

16

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

Farhan, Sali M K, Nixon, Kevin C J, Everest, Michelle, Edwards, Tara N, Long, Shirley, Segal, Dmitri, Knip, Maria J, Arts, Heleen H, Chakrabarti, Rana, Wang, Jian, Robinson, John F, Lee, Donald, Mirsa

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.21 MB

english, 2017

17

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Dilliott, Allison A., Farhan, Sali M.K., Ghani, Mahdi, Sato, Christine, Liang, Eric, Zhang, Ming, McIntyre, Adam D., Cao, Henian, Racacho, Lemuel, Robinson, John F., Strong, Michael J., Masellis, Mari

Journal:

Journal of Visualized Experiments

Year:

2018

Language:

english

File:

PDF, 647 KB

english, 2018

18

Cover Image, Volume 177B, Number 1, January 2018

Farhan, Sali M. K., Gendron, Tania F., Petrucelli, Leonard, Hegele, Robert A., Strong, Michael J.

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2018

Language:

english

File:

PDF, 888 KB

english, 2018

19

Identifying the Genetic Basis of Vascular Cognitive Impairment Using a Custom Designed Next-generation Sequencing-based Gene Panel

Dilliott, Allison A., Farhan, Sali M., McIntyre, Adam A., Robinson, John F., Kwan, Donna, Swartz, Rick, Hassan, Ayman, Dowlatshahi, Dar, Sahlas, Demetrios, Saposnik, Gustavo, Mandzia, Jennifer, Casaub

Journal:

Atherosclerosis Supplements

Year:

2018

Language:

english

File:

PDF, 63 KB

english, 2018

20

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

Spataro, Rossella, Kousi, Maria, Farhan, Sali M. K., Willer, Jason R., Ross, Jay P., Dion, Patrick A., Rouleau, Guy A., Daly, Mark J., Neale, Benjamin M., La Bella, Vincenzo, Katsanis, Nicholas

Journal:

Year:

2019

Language:

english

File:

PDF, 1.81 MB

english, 2019

21

An Efficient Precoding Algorithm for mmWave Massive MIMO Systems

Khan, Imran, Henna, Shagufta, Anjum, Nasreen, Sali, Aduwati, Rodrigues, Jonathan, Khan, Yousaf, Khattak, Muhammad Irfan, Altaf, Farhan

Journal:

Year:

2019

Language:

english

File:

PDF, 2.05 MB

english, 2019

22

Modulation of hippocampal neuronal resilience during aging by the Hsp70/Hsp90 co‐chaperone STI1

Lackie, Rachel E., Razzaq, Abdul R., Farhan, Sali M.K., Qiu, Lily R., Moshitzky, Gilli, Beraldo, Flavio H., Lopes, Marilene H., Maciejewski, Andrzej, Gros, Robert, Fan, Jue, Choy, Wing‐Yiu, Greenberg,

Journal:

Journal of Neurochemistry

Year:

2019

Language:

english

File:

PDF, 31.83 MB

english, 2019

23

Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

Farhan, Sali M. K., Howrigan, Daniel P., Abbott, Liam E., Klim, Joseph R., Topp, Simon D., Byrnes, Andrea E., Churchhouse, Claire, Phatnani, Hemali, Smith, Bradley N., Rampersaud, Evadnie, Wu, Gang, W

Journal:

Nature Neuroscience

Year:

2019

Language:

english

File:

PDF, 533 KB

english, 2019

24

Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

Farhan, Sali M. K., Howrigan, Daniel P., Abbott, Liam E., Klim, Joseph R., Topp, Simon D., Byrnes, Andrea E., Churchhouse, Claire, Phatnani, Hemali, Smith, Bradley N., Rampersaud, Evadnie, Wu, Gang, W

Journal:

Nature Neuroscience

Year:

2019

File:

PDF, 533 KB

2019

25

Lipocalinâ2 is increased in amyotrophic lateral sclerosis

Petrozziello, Tiziana, Mills, Alexandra N., Farhan, Sali M.K., Mueller, Kaly A., Granucci, Eric J., Glajch, Kelly E., Chan, James, Chew, Sheena, Berry, James D., SadriâVakili, Ghazaleh

Journal:

Year:

2020

File:

PDF, 5.77 MB

2020

26

MG-112âA KMT2D mutation segregating in a family presenting with autosomal dominant choanal atresia reinforces the kabuki/charge connexion

Badalato, Lauren, Farhan, Sali M, Dilliott, Allison, Hegele, Robert, Goobie, Sharan

Journal:

Journal of Medical Genetics

Year:

2015

File:

PDF, 55 KB

2015

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