Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway
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.
Published in Genetics in medicine (01.10.2014)
Published in Genetics in medicine (01.10.2014)
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A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8
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
Published in Journal of human genetics (01.04.2019)
Published in Journal of human genetics (01.04.2019)
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Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes
Tucker, Tracy, Zahir, Farah R, Griffith, Malachi, Delaney, Allen, Chai, David, Tsang, Erica, Lemyre, Emmanuelle, Dobrzeniecka, Sylvia, Marra, Marco, Eydoux, Patrice, Langlois, Sylvie, Hamdan, Fadi F, Michaud, Jacques L, Friedman, Jan M
Published in European journal of human genetics : EJHG (01.06.2014)
Published in European journal of human genetics : EJHG (01.06.2014)
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Journal Article
Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability
Zahir, Farah R, Mwenifumbo, Jill C, Chun, Hye-Jung E, Lim, Emilia L, Van Karnebeek, Clara D M, Couse, Madeline, Mungall, Karen L, Lee, Leora, Makela, Nancy, Armstrong, Linlea, Boerkoel, Cornelius F, Langlois, Sylvie L, McGillivray, Barbara M, Jones, Steven J M, Friedman, Jan M, Marra, Marco A
Published in BMC genomics (24.05.2017)
Published in BMC genomics (24.05.2017)
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Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes
Zahir, Farah R., Tucker, Tracy, Mayo, Sonia, Brown, Carolyn J., Lim, Emilia L., Taylor, Jonathan, Marra, Marco A., Hamdan, Fadi F., Michaud, Jacques L., Friedman, Jan M.
Published in American journal of medical genetics. Part A (01.11.2016)
Published in American journal of medical genetics. Part A (01.11.2016)
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Journal Article
De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy
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.
Published in Molecular genetics & genomic medicine (01.10.2019)
Published in Molecular genetics & genomic medicine (01.10.2019)
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Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
Friedman, Jm, Adam, Shelin, Arbour, Laura, Armstrong, Linlea, Baross, Agnes, Birch, Patricia, Boerkoel, Cornelius, Chan, Susanna, Chai, David, Delaney, Allen D, Flibotte, Stephane, Gibson, William T, Langlois, Sylvie, Lemyre, Emmanuelle, Li, H Irene, 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
Published in BMC genomics (16.11.2009)
Published in BMC genomics (16.11.2009)
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Journal Article
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
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
Published in American journal of human genetics (07.12.2017)
Published in American journal of human genetics (07.12.2017)
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Journal Article
First Whole Transcriptome RNAseq on CHD8 Haploinsufficient Patient and Meta-Analyses Across Cellular Models Uncovers Likely Key Pathophysiological Target Genes
Yasin, Heba, Stowe, Robert, Wong, Chi Kin, Jithesh, Puthen Veettil, Zahir, Farah R
Published in Curēus (Palo Alto, CA) (19.11.2020)
Published in Curēus (Palo Alto, CA) (19.11.2020)
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Life‐history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome
Tsang, Erica, Rupps, Rosemarie, McGillivray, Barbara, Eydoux, Patrice, Marra, Marco, Arbour, Laura, Langlois, Sylvie, Friedman, Jan M., Zahir, Farah R.
Published in American journal of medical genetics. Part A (01.10.2012)
Published in American journal of medical genetics. Part A (01.10.2012)
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Journal Article
A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies
Zahir, Farah R., Langlois, Sylvie, Gall, Kim, Eydoux, Patrice, Marra, Marco A., Friedman, Jan M.
Published in American journal of medical genetics. Part A (01.06.2009)
Published in American journal of medical genetics. Part A (01.06.2009)
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Journal Article
A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7
Lehman, Anna M, Friedman, Jan M, Chai, David, Zahir, Farah R, Marra, Marco A, Prisman, Larraine, Tsang, Erica, Eydoux, Patrice, Armstrong, Linlea
Published in European journal of medical genetics (01.11.2009)
Published in European journal of medical genetics (01.11.2009)
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