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1.

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

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.

Genet Med; 24(8): 1753-1760, 2022 08.

Artículo en Inglés | MEDLINE | ID: mdl-35579625

2.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Mak, Christopher C Y; Doherty, Dan; Lin, Angela E; Vegas, Nancy; Cho, Megan T; Viot, Géraldine; Dimartino, Clémantine; Weisfeld-Adams, James D; Lessel, Davor; Joss, Shelagh; Li, Chumei; Gonzaga-Jauregui, Claudia; Zarate, Yuri A; Ehmke, Nadja; Horn, Denise; Troyer, Caitlin; Kant, Sarina G; Lee, Youngha; Ishak, Gisele E; Leung, Gordon; Barone Pritchard, Amanda; Yang, Sandra; Bend, Eric G; Filippini, Francesca; Roadhouse, Chelsea; Lebrun, Nicolas; Mehaffey, Michele G; Martin, Pierre-Marie; Apple, Benjamin; Millan, Francisca; Puk, Oliver; Hoffer, Mariette J V; Henderson, Lindsay B; McGowan, Ruth; Wentzensen, Ingrid M; Pei, Steven; Zahir, Farah R; Yu, Mullin; Gibson, William T; Seman, Ann; Steeves, Marcie; Murrell, Jill R; Luettgen, Sabine; Francisco, Elizabeth; Strom, Tim M; Amlie-Wolf, Louise; Kaindl, Angela M; Wilson, William G; Halbach, Sara; Basel-Salmon, Lina.

Brain; 143(1): 55-68, 2020 01 01.

Artículo en Inglés | MEDLINE | ID: mdl-31834374

3.

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.

Am J Hum Genet; 101(6): 1021-1033, 2017 Dec 07.

Artículo en Inglés | MEDLINE | ID: mdl-29220674

4.

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.

J Hum Genet; 64(4): 271-280, 2019 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-30670789

5.

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

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.

Genet Med; 25(2): 100004, 2023 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-36745127

6.

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.

BMC Genomics; 18(1): 403, 2017 05 24.

Artículo en Inglés | MEDLINE | ID: mdl-28539120

7.

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.

Am J Med Genet A; 170(11): 2916-2926, 2016 11.

Artículo en Inglés | MEDLINE | ID: mdl-27748065

8.

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, Rui; 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.

Genet Med; 16(10): 751-8, 2014 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-24651605

9.

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.

Am J Med Genet A; 158A(10): 2606-9, 2012 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-22903878

10.

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.

Zahir, Farah R.

J Pers Med; 12(8)2022 Aug 19.

Artículo en Inglés | MEDLINE | ID: mdl-36013280

11.

Epigenomic impacts of meditative practices.

Zahir, Farah R.

Epigenomics; 14(24): 1593-1608, 2022 12.

Artículo en Inglés | MEDLINE | ID: mdl-36891912

12.

Recent Major Transcriptomics and Epitranscriptomics Contributions toward Personalized and Precision Medicine.

Mubarak, Ghada; Zahir, Farah R.

J Pers Med; 12(2)2022 Feb 01.

Artículo en Inglés | MEDLINE | ID: mdl-35207687

13.

Epigenetic impacts on neurodevelopment: pathophysiological mechanisms and genetic modes of action.

Zahir, Farah R; Brown, Carolyn J.

Pediatr Res; 69(5 Pt 2): 92R-100R, 2011 May.

Artículo en Inglés | MEDLINE | ID: mdl-21293311

14.

The Need for Precision Therapies as Determined by Genetic Signature for Cystic Fibrosis.

Zahir, Farah R.

J Pers Med; 11(12)2021 Dec 12.

Artículo en Inglés | MEDLINE | ID: mdl-34945826

15.

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

Zahir, Farah R.

Epigenomics; 13(17): 1341-1345, 2021 09.

Artículo en Inglés | MEDLINE | ID: mdl-34553604

16.

Maternal Prenatal Exposures in Pregnancy and Autism Spectrum Disorder: An Insight into the Epigenetics of Drugs and Diet as Key Environmental Influences.

Bastaki, Kholoud N; Alwan, Sura; Zahir, Farah R.

Adv Neurobiol; 24: 143-162, 2020.

Artículo en Inglés | MEDLINE | ID: mdl-32006359

17.

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.

Cureus; 12(11): e11571, 2020 Nov 19.

Artículo en Inglés | MEDLINE | ID: mdl-33282601

18.

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.

BMC Genomics; 10: 526, 2009 Nov 16.

Artículo en Inglés | MEDLINE | ID: mdl-19917086

19.

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.

Am J Med Genet A; 149A(6): 1257-62, 2009 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-19449402

20.

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; van Karnebeek, Clara D M; Horvath, Gabriella A.

Mol Genet Genomic Med; 7(10): e00961, 2019 10.

Artículo en Inglés | MEDLINE | ID: mdl-31475481

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

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

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

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

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

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

Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes.

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

Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome.

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.

Epigenomic impacts of meditative practices.

Recent Major Transcriptomics and Epitranscriptomics Contributions toward Personalized and Precision Medicine.

Epigenetic impacts on neurodevelopment: pathophysiological mechanisms and genetic modes of action.

The Need for Precision Therapies as Determined by Genetic Signature for Cystic Fibrosis.

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

Maternal Prenatal Exposures in Pregnancy and Autism Spectrum Disorder: An Insight into the Epigenetics of Drugs and Diet as Key Environmental Influences.

First Whole Transcriptome RNAseq on CHD8 Haploinsufficient Patient and Meta-Analyses Across Cellular Models Uncovers Likely Key Pathophysiological Target Genes.

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

A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies.

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