Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Natalya Karp"'
Autor:
Ryan Iverson, Monica Taljaard, Michael T. Geraghty, Michael Pugliese, Kylie Tingley, Doug Coyle, Jonathan B. Kronick, Kumanan Wilson, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Nancy J. Butcher, Alicia K. J. Chan, Sarah Dyack, Sharan Goobie, Cheryl R. Greenberg, Shailly Jain-Ghai, Michal Inbar-Feigenberg, Natalya Karp, Mariya Kozenko, Erica Langley, Matthew Lines, Julian Little, Jennifer MacKenzie, Bruno Maranda, Saadet Mercimek-Andrews, Aizeddin Mhanni, John J. Mitchell, Laura Nagy, Martin Offringa, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler-Ipsiroglu, Kendra Tapscott, Yannis Trakadis, Lesley Turner, Clara Van Karnebeek, Anthony Vandersteen, Jagdeep S. Walia, Brenda J. Wilson, Andrea C. Yu, Beth K. Potter, Pranesh Chakraborty
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-13 (2024)
Abstract Background Generating rigorous evidence to inform care for rare diseases requires reliable, sustainable, and longitudinal measurement of priority outcomes. Having developed a core outcome set for pediatric medium-chain acyl-CoA dehydrogenase
Externí odkaz:
https://doaj.org/article/7eb12ffd1f3f4a9898861100013c4093
Autor:
Andrea Chow, Guylaine D'Amours, Isabel Jordan, Nicole Pallone, Maureen Smith, Pranesh Chakraborty, Zobaida Al-Baldawi, Julie Paradis, Jamie Brehaut, Alicia Chan, Eyal Cohen, Sarah Dyack, Jane Gillis, Sharan Goobie, Ian Graham, Cheryl Rockman-Greenberg, Jeremy Grimshaw, Robin Hayeems, Michal Inbar-Feigenberg, Shailly Jain-Ghai, Sara Khangura, Jennifer MacKenzie, Nathalie Major, John Mitchell, Stuart Nicholls, Amy Pender, Murray Potter, Chitra Prasad, Natalya Karp, Andreas Schulze, Komudi Siriwardena, Kathy Speechley, Sylvia Stockler, Yannis Trakadis, Clara van Karnebeek, Jagdeep Walia, Kumanan Wilson, Brenda Wilson, Andrea Yu, Beth Potter
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101379- (2024)
Externí odkaz:
https://doaj.org/article/88ebbe3c15ba497cb11c3d55ae1cdb0b
Autor:
Andrew T. Timberlake, Casey Griffin, Carrie L. Heike, Anne V. Hing, Michael L. Cunningham, David Chitayat, Mark R. Davis, Soghra J. Doust, Amelia F. Drake, Milagros M. Duenas-Roque, Jack Goldblatt, Jonas A. Gustafson, Paula Hurtado-Villa, Alexis Johns, Natalya Karp, Nigel G. Laing, Leanne Magee, University of Washington Center for Mendelian Genomics, Sureni V. Mullegama, Harry Pachajoa, Gloria L. Porras-Hurtado, Rhonda E. Schnur, Jennie Slee, Steven L. Singer, David A. Staffenberg, Andrew E. Timms, Cheryl A. Wise, Ignacio Zarante, Jean-Pierre Saint-Jeannet, Daniela V. Luquetti
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
Despite being a common congenital facial anomaly, the genetic etiology of craniofacial microsomia (CFM) is not well understood. Here, the authors use exome and genome sequencing of 146 individuals with CFM to identify haploinsufficient variants in SF
Externí odkaz:
https://doaj.org/article/d765e285eeb1444f96c9860e6bc243dd
Autor:
Kylie Tingley, Monica Lamoureux, Michael Pugliese, Michael T. Geraghty, Jonathan B. Kronick, Beth K. Potter, Doug Coyle, Kumanan Wilson, Michael Kowalski, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Alicia K. J. Chan, Sarah Dyack, Annette Feigenbaum, Alette Giezen, Sharan Goobie, Cheryl R. Greenberg, Shailly Jain Ghai, Michal Inbar-Feigenberg, Natalya Karp, Mariya Kozenko, Erica Langley, Matthew Lines, Julian Little, Jennifer MacKenzie, Bruno Maranda, Saadet Mercimek-Andrews, Connie Mohan, Aizeddin Mhanni, Grant Mitchell, John J. Mitchell, Laura Nagy, Melanie Napier, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler-Ipsiroglu, Yannis Trakadis, Lesley Turner, Clara Van Karnebeek, Hilary Vallance, Anthony Vandersteen, Jagdeep Walia, Ashley Wilson, Brenda J. Wilson, Andrea C. Yu, Nataliya Yuskiv, Pranesh Chakraborty, on behalf of the Canadian Inherited Metabolic Diseases Research Network
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background The Canadian Inherited Metabolic Diseases Research Network (CIMDRN) is a pan-Canadian practice-based research network of 14 Hereditary Metabolic Disease Treatment Centres and over 50 investigators. CIMDRN aims to develop evidence
Externí odkaz:
https://doaj.org/article/4dd97f1f0f9c499290bec8147590f10e
Autor:
Michael Pugliese, Kylie Tingley, Andrea Chow, Nicole Pallone, Maureen Smith, Alvi Rahman, Pranesh Chakraborty, Michael T. Geraghty, Julie Irwin, Laure Tessier, Stuart G. Nicholls, Martin Offringa, Nancy J. Butcher, Ryan Iverson, Tammy J. Clifford, Sylvia Stockler, Brian Hutton, Karen Paik, Jessica Tao, Becky Skidmore, Doug Coyle, Kathleen Duddy, Sarah Dyack, Cheryl R. Greenberg, Shailly Jain Ghai, Natalya Karp, Lawrence Korngut, Jonathan Kronick, Alex MacKenzie, Jennifer MacKenzie, Bruno Maranda, John J. Mitchell, Murray Potter, Chitra Prasad, Andreas Schulze, Rebecca Sparkes, Monica Taljaard, Yannis Trakadis, Jagdeep Walia, Beth K. Potter, Canadian Inherited Metabolic Diseases Research Network
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-15 (2020)
Abstract Background Inherited metabolic diseases (IMDs) are a group of individually rare single-gene diseases. For many IMDs, there is a paucity of high-quality evidence that evaluates the effectiveness of clinical interventions. Clinical effectivene
Externí odkaz:
https://doaj.org/article/ca64ab0b801a44c5b984cecb91d4a8b8
Autor:
Laura Guilder, Carlos E. Prada, Sofia Saenz, Shailly Jain-Ghai, Natalya Karp, George Mazariegos, Suzanne Ratko, Ramona Salvarinova, Saadet Mercimek-Andrews
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100763- (2021)
Maple syrup urine disease (MSUD) is due to biallelic variants in one of the three genes: BCKDHA, BCKDHB, and DBT. Branched-chain alpha-ketoacid dehydrogenase complex deficiency and elevated leucine, valine, isoleucine and alloisoleucine in body fluid
Externí odkaz:
https://doaj.org/article/c5df38af4c9146aeb10fddb2dd104490
Publikováno v:
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine. 18(9)
With the growing prevalence of obesity in the pediatric population, reports of its severe complications are increasing. Obesity hypoventilation syndrome is an uncommon disorder in children with altered respiratory mechanics, sleep-disordered breathin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b26618814443c8fd376f3b277a74ed03
https://pubmed.ncbi.nlm.nih.gov/35713175
https://pubmed.ncbi.nlm.nih.gov/35713175
Autor:
Taila, Hartley, Élisabeth, Soubry, Meryl, Acker, Matthew, Osmond, Madeline, Couse, Meredith K, Gillespie, Yoko, Ito, Aren E, Marshall, Gabrielle, Lemire, Lijia, Huang, Caitlin, Chisholm, Alison J, Eaton, E Magda, Price, James J, Dowling, Arun K, Ramani, Roberto, Mendoza-Londono, Gregory, Costain, Michelle M, Axford, Anna, Szuto, Vanda, McNiven, Nadirah, Damseh, Rebekah, Jobling, Leanne, de Kock, Bahareh A, Mojarad, Ted, Young, Zhuo, Shao, Robin Z, Hayeems, Ian D, Graham, Mark, Tarnopolsky, Lauren, Brady, Christine M, Armour, Michael, Geraghty, Julie, Richer, Sarah, Sawyer, Matthew, Lines, Saadet, Mercimek-Andrews, Melissa T, Carter, Gail, Graham, Peter, Kannu, Joanna, Lazier, Chumei, Li, Ritu B, Aul, Tugce B, Balci, Nomazulu, Dlamini, Lauren, Badalato, Andrea, Guerin, Jagdeep, Walia, David, Chitayat, Ronald, Cohn, Hanna, Faghfoury, Cynthia, Forster-Gibson, Hernan, Gonorazky, Eyal, Grunebaum, Michal, Inbar-Feigenberg, Natalya, Karp, Chantal, Morel, Alison, Rusnak, Neal, Sondheimer, Jodi, Warman-Chardon, Priya T, Bhola, Danielle K, Bourque, Inara J, Chacon, Lauren, Chad, Pranesh, Chakraborty, Karen, Chong, Asif, Doja, Elaine Suk-Ying, Goh, Maha, Saleh, Beth K, Potter, Christian R, Marshall, David A, Dyment, Kristin, Kernohan, Kym M, Boycott
Publikováno v:
Clinical geneticsREFERENCES.
We examined the utility of clinical and research processes in the reanalysis of publicly-funded clinical exome sequencing data in Ontario, Canada. In partnership with eight sites, we recruited 287 families with suspected rare genetic diseases tested
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d43914a0085155fda4b28bec371c16c8
https://pubmed.ncbi.nlm.nih.gov/36353900
https://pubmed.ncbi.nlm.nih.gov/36353900
Publikováno v:
British Inherited Metabolic Disease Group.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ac9708dc47b79c9679bd7864ecbd6480
https://doi.org/10.1136/archdischild-2022-rcpch.321
https://doi.org/10.1136/archdischild-2022-rcpch.321
Autor:
Jennifer H. Yang, Marisa W. Friederich, Katarzyna A. Ellsworth, Aliya Frederick, Emily Foreman, Denise Malicki, David Dimmock, Jerica Lenberg, Chitra Prasad, Andrea C. Yu, C. Anthony Rupar, Robert A. Hegele, Kandamurugu Manickam, Daniel C. Koboldt, Erin Crist, Samantha S. Choi, Sali M.K. Farhan, Helen Harvey, Shifteh Sattar, Natalya Karp, Terence Wong, Richard Haas, Johan L. K. Van Hove, Kristen Wigby
Publikováno v:
Human mutation, vol 43, iss 3
Hum Mutat
Hum Mutat
Iron-sulfur cluster proteins are involved in critical functions for gene expression regulation and mitochondrial bioenergetics including the oxidative phosphorylation system. The c.215G>A p.(Arg72Gln) variant in NFS1 has been previously reported to c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e645f94902b36d211d5a0a320945ef4f
https://escholarship.org/uc/item/68j1p63k
https://escholarship.org/uc/item/68j1p63k
