Epigenomic impacts of meditative practices

Authors: Zahir, Farah R

Source: Epigenomics. 14(24):1593-1608

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100188849672.0x000001&indx=1&recIds=ETOCvdc_100188849672.0x000001

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Authors: van der Sluijs, Pleuntje J., Joosten, Marieke, Alby, Caroline, Attié-Bitach, Tania, Gilmore, Kelly, Dubourg, Christele, Fradin, Mélanie, Wang, Tianyun, Kurtz-Nelson, Evangeline C., Ahlers, Kaitlyn P., Arts, Peer, Barnett, Christopher P., Ashfaq, Myla, Baban, Anwar, van den Born, Myrthe, Borrie, Sarah, Busa, Tiffany, Byrne, Alicia, Carriero, Miriam, Cesario, Claudia, Chong, Karen, Cueto-González, Anna Maria, Dempsey, Jennifer C., Diderich, Karin E.M., Doherty, Dan, Farholt, Stense, Gerkes, Erica H., Gorokhova, Svetlana, Govaerts, Lutgarde C.P., Gregersen, Pernille A., Hickey, Scott E., Lefebvre, Mathilde, Mari, Francesca, Martinovic, Jelena, Northrup, Hope, O’Leary, Melanie, Parbhoo, Kareesma, Patrier, Sophie, Popp, Bernt, Santos-Simarro, Fernando, Stoltenburg, Corinna, Thauvin-Robinet, Christel, Thompson, Elisabeth, Vulto-van Silfhout, Anneke T., Zahir, Farah R., Scott, Hamish S., Earl, Rachel K., Eichler, Evan E., Vora, Neeta L., Wilnai, Yael, Giordano, Jessica L., Wapner, Ronald J., Rosenfeld, Jill A., Haak, Monique C., Santen, Gijs W.E.

Source: In Genetics in Medicine August 2022 24(8):1753-1760

Understanding environmental epigenomics in autism spectrum disorder: an interview with Farah R Zahir

Authors: Zahir, Farah R

Source: Epigenomics. 13(17):1341-1345

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100187241246.0x000001&indx=1&recIds=ETOCvdc_100187241246.0x000001

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Authors: Cuvertino, Sara, Stuart, Helen M., Chandler, Kate E., Roberts, Neil A., Armstrong, Ruth, Bernardini, Laura, Bhaskar, Sanjeev, Callewaert, Bert, Clayton-Smith, Jill, Davalillo, Cristina Hernando, Deshpande, Charu, Devriendt, Koenraad, Digilio, Maria C., Dixit, Abhijit, Edwards, Matthew, Friedman, Jan M., Gonzalez-Meneses, Antonio, Joss, Shelagh, Kerr, Bronwyn, Lampe, Anne Katrin, Langlois, Sylvie, Lennon, Rachel, Loget, Philippe, Ma, David Y.T., McGowan, Ruth, Des Medt, Maryse, O'Sullivan, James, Odent, Sylvie, Parker, Michael J., Pebrel-Richard, Céline, Petit, Florence, Stark, Zornitza, Stockler-Ipsiroglu, Sylvia, Tinschert, Sigrid, Vasudevan, Pradeep, Villa, Olaya, White, Susan M., Zahir, Farah R., Woolf, Adrian S., Banka, Siddharth

Source: American journal of human genetics. 101(6):1021-1033

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100060409881.0x000001&indx=1&recIds=ETOCvdc_100060409881.0x000001

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Authors: Enns, Gregory M., Shashi, Vandana, Bainbridge, Matthew, Gambello, Michael J., Zahir, Farah R., Bast, Thomas, Crimian, Rebecca, Schoch, Kelly, Platt, Julia, Cox, Rachel, Bernstein, Jonathan A., Scavina, Mena, Walter, Rhonda S., Bibb, Audrey, Jones, Melanie, Hegde, Madhuri, Graham, Brett H., Need, Anna C., Oviedo, Angelica, Schaaf, Christian P., Boyle, Sean, Butte, Atul J., Chen, Rong, Clark, Michael J., Haraksingh, Rajini, Cowan, Tina M., He, Ping, Langlois, Sylvie, Zoghbi, Huda Y., Snyder, Michael, Gibbs, Richard A., Freeze, Hudson H., Goldstein, David B.

Source: In Genetics in Medicine October 2014 16(10):751-758

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Authors: van der Sluijs, Pleuntje J., Joosten, Marieke, Alby, Caroline, Attié-Bitach, Tania, Gilmore, Kelly, Dubourg, Christele, Fradin, Mélanie, Wang, Tianyun, Kurtz-Nelson, Evangeline C., Ahlers, Kaitlyn P., Arts, Peer, Barnett, Christopher P., Ashfaq, Myla, Baban, Anwar, van den Born, Myrthe, Borrie, Sarah, Busa, Tiffany, Byrne, Alicia, Carriero, Miriam, Cesario, Claudia, Chong, Karen, Cueto-González, Anna Maria, Dempsey, Jennifer C., Diderich, Karin E.M., Doherty, Dan, Farholt, Stense, Gerkes, Erica H., Gorokhova, Svetlana, Govaerts, Lutgarde C.P., Gregersen, Pernille A., Hickey, Scott E., Lefebvre, Mathilde, Mari, Francesca, Martinovic, Jelena, Northrup, Hope, O’Leary, Melanie, Parbhoo, Kareesma, Patrier, Sophie, Popp, Bernt, Santos-Simarro, Fernando, Stoltenburg, Corinna, Thauvin-Robinet, Christel, Thompson, Elisabeth, Vulto-van Silfhout, Anneke T., Zahir, Farah R., Scott, Hamish S., Earl, Rachel K., Eichler, Evan E., Vora, Neeta L., Wilnai, Yael, Giordano, Jessica L., Wapner, Ronald J., Rosenfeld, Jill A., Haak, Monique C., Santen, Gijs W.E.

Source: In Genetics in Medicine February 2023 25(2)

Use of Affymetrix Arrays in the Diagnosis of Gene Copy‐Number Variation

Authors: Zahir, Farah R., Marra, Marco A.

Source: Current Protocols in Human Genetics. 85(1):8.13.1-8.13.13

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100112532214.0x000001&indx=1&recIds=ETOCvdc_100112532214.0x000001

De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy

Authors: Tarailo‐Graovac, Maja, Zahir, Farah R., Zivkovic, Irena, Moksa, Michelle, Selby, Kathryn, Sinha, Sunita, Nislow, Corey, Stockler‐Ipsiroglu, Sylvia G., Sheffer, Ruth, Saada‐Reisch, Ann, Friedman, Jan M., Karnebeek, Clara D. M., Horvath, Gabriella A.

Source: Molecular genetics & genomic medicine. 7(10)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100092820752.0x000001&indx=1&recIds=ETOCvdc_100092820752.0x000001

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.

Authors: Zahir, Farah R.^1,2,3 farahz@cfri.ca, Mwenifumbo, Jill C.¹, Chun, Hye-Jung E.¹, Lim, Emilia L.¹, Van Karnebeek, Clara D. M.⁴, Couse, Madeline², Mungall, Karen L.¹, Lee, Leora², Makela, Nancy², Armstrong, Linlea⁵, Boerkoel, Cornelius F.⁵, Langlois, Sylvie L.⁵, McGillivray, Barbara M.⁵, Jones, Steven J. M.¹, Friedman, Jan M.², Marra, Marco A.^1,2

Source: BMC Genomics. 5/24/2017, Vol. 18, p1-16. 16p. 5 Diagrams, 2 Charts, 1 Graph.

Subject Terms: *NUCLEOTIDE sequencing, *INTELLECTUAL disabilities, *SINGLE nucleotide polymorphisms, *DELETION mutation, *GENETIC algorithms, *DATA analysis, *NON-coding DNA, *GENETICS

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

Authors: Li H Irene, Lemyre Emmanuelle, Langlois Sylvie, Gibson William T, Flibotte Stephane, Delaney Allen D, Chai David, Chan Susanna, Boerkoel Cornelius, Birch Patricia, Baross Agnes, Armstrong Linlea, Arbour Laura, Adam Shelin, Friedman JM, MacLeod Patrick, Mathers Joan, Michaud Jacques L, McGillivray Barbara C, Patel Millan S, Qian Hong, Rouleau Guy A, Van Allen Margot I, Yong Siu-Li, Zahir Farah R, Eydoux Patrice, Marra Marco A

Source: BMC Genomics, Vol 10, Iss 1, p 526 (2009)

Subject Terms: Biotechnology, TP248.13-248.65, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.biomedcentral.com/1471-2164/10/526; https://doaj.org/toc/1471-2164

Access URL: https://doaj.org/article/f4c731e301114efe9e880d23b03d48d4

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.

Authors: Tucker, Tracy¹, Zahir, Farah R², Griffith, Malachi³, Delaney, Allen³, Chai, David¹, Tsang, Erica⁴, Lemyre, Emmanuelle⁵, Dobrzeniecka, Sylvia⁵, Marra, Marco³, Eydoux, Patrice¹, Langlois, Sylvie⁶, Hamdan, Fadi F⁵, Michaud, Jacques L⁵, Friedman, Jan M⁷

Source: European Journal of Human Genetics. Jun2014, Vol. 22 Issue 6, p792-800. 9p.

Subject Terms: *EXONS (Genetics), *CHROMOSOMES, *LOCUS (Genetics), *GENETIC code, *GENETIC disorders

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A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8

Authors: Yasin, Heba, Gibson, William T., Langlois, Sylvie, Stowe, Robert M., Tsang, Erica S., Lee, Leora, Poon, Jenny, Tran, Grant, Tyson, Christine, Wong, Chi Kin, Marra, Marco A., Friedman, Jan M., Zahir, Farah R.

Source: Journal of Human Genetics; April 2019, Vol. 64 Issue: 4 p271-280, 10p

Editorial on the Paper "The Epidemiology and Genetics of Hyperuricemia and Gout across Major Racial Groups: A Literature Review and Population Genetics Secondary Database Analysis" by Butler, Alghoubayshi and Roman.

Authors: Zahir, Farah R.^1,2 (AUTHOR) farahz@bcchr.ca

Source: Journal of Personalized Medicine. Aug2022, Vol. 12 Issue 8, p1331-1331. 2p.

Subject Terms: *GENETIC databases, *POPULATION genetics, *GENETICS, *GOUT, *EPIDEMIOLOGY, *SECONDARY analysis

A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7

Authors: Lehman, Anna M., Friedman, Jan M., Chai, David, Zahir, Farah R., Marra, Marco A., Prisman, Larraine, Tsang, Erica, Eydoux, Patrice, Armstrong, Linlea

Source: In European Journal of Medical Genetics 2009 52(6):436-439

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Mutations in NGLY1cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Authors: Enns, Gregory M., Shashi, Vandana, Bainbridge, Matthew, Gambello, Michael J., Zahir, Farah R., Bast, Thomas, Crimian, Rebecca, Schoch, Kelly, Platt, Julia, Cox, Rachel, Bernstein, Jonathan A., Scavina, Mena, Walter, Rhonda S., Bibb, Audrey, Jones, Melanie, Hegde, Madhuri, Graham, Brett H., Need, Anna C., Oviedo, Angelica, Schaaf, Christian P., Boyle, Sean, Butte, Atul J., Chen, Rong, Clark, Michael J., Haraksingh, Rajini, Cowan, Tina M., He, Ping, Langlois, Sylvie, Zoghbi, Huda Y., Snyder, Michael, Gibbs, Richard A., Freeze, Hudson H., Goldstein, David B.

Source: Genetics in Medicine; October 2014, Vol. 16 Issue: 10 p751-758, 8p