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1
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study 미리보기

학술저널

issue
In Genetics in Medicine February 2024 26(2)
Author
Boycott, Kym
Brudno, Michael
Bernier, Francois
van Karnebeek, Clara
Dyment, David
Kernohan, Kristin
Innes, Micheil
Lamont, Ryan
Parboosingh, Jillian
Marshall, Deborah
Marshall, Christian
Mendoza, Roberto
Dowling, James
Hayeems, Robin
Knoppers, Bartha
Lehman, Anna
Mostafavi, Sara
Hartley, Taila
Acker, Meryl
Fooks, Katharine
Gillespie, Meredith K.
Price, E. Magda
Graham, Ian D.
White-Brown, Alexandre
MacKay, Layla
Macdonald, Stella K.
Brady, Lauren
Hui, Angela Y.
Andrews, Joseph D.
Chowdhury, Ashfia
Wall, Erika
Soubry, Élisabeth
Ediae, Grace U.
Rojas, Samantha
Assamad, Daniel
Tarnopolsky, Mark
Sawyer, Sarah L.
Chisholm, Caitlin
Lemire, Gabrielle
Amburgey, Kimberly
Lazier, Joanna
Mendoza-Londono, Roberto
Dowling, James J.
Balci, Tugce B.
Armour, Christine M.
Bhola, Priya T.
Costain, Gregory
Dupuis, Lucie
Carter, Melissa
Badalato, Lauren
Richer, Julie
Boswell-Patterson, Christie
Kannu, Peter
Cordeiro, Dawn
Warman-Chardon, Jodi
Graham, Gail
Siu, Victoria Mok
Cytrynbaum, Cheryl
Rusnak, Alison
Aul, Ritu B.
Yoon, Grace
Gonorazky, Hernan
McNiven, Vanda
Mercimek-Andrews, Saadet
Guerin, Andrea
Deshwar, Ashish R.
Marwaha, Ashish
Weksberg, Rosanna
Karp, Natalya
Campbell, Maggie
Al-Qattan, Sarah
Shuen, Andrew Y.
Inbar-Feigenberg, Michal
Cohn, Ronald
Szuto, Anna
Inglese, Cara
Poirier, Myriam
Chad, Lauren
Potter, Beth
Boycott, Kym M.
DB Label
Database : ScienceDirect
원문보기
조회 - Impact Factor (JCR)  등재 - Web of Science (SCIE)  등재 - SCOPUS 
6
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data 미리보기

학술저널

issue
CLINICAL GENETICS; NOV 29 2022, 13p.
Author
Hartley, Taila
Soubry, Elisabeth
Acker, Meryl
Osmond, Matthew
Couse, Madeline
Gillespie, Meredith K.
Ito, Yoko
Marshall, Aren E.
Lemire, Gabrielle
Huang, Lijia
Chisholm, Caitlin
Eaton, Alison J.
Price, E. Magda
Dowling, James J.
Ramani, Arun K.
Mendoza-Londono, Roberto
Costain, Gregory
Axford, Michelle M.
Szuto, Anna
McNiven, Vanda
Damseh, Nadirah
Jobling, Rebekah
de Kock, Leanne
Mojarad, Bahareh A.
Young, Ted
Shao, Zhuo
Hayeems, Robin Z.
Graham, Ian D.
Tarnopolsky, Mark
Brady, Lauren
Armour, Christine M.
Geraghty, Michael
Richer, Julie
Sawyer, Sarah
Lines, Matthew
Mercimek-Andrews, Saadet
Carter, Melissa T.
Graham, Gail
Kannu, Peter
Lazier, Joanna
Li, Chumei
Aul, Ritu B.
Balci, Tugce B.
Dlamini, Nomazulu
Badalato, Lauren
Guerin, Andrea
Walia, Jagdeep
Chitayat, David
Cohn, Ronald
Faghfoury, Hanna
Forster-Gibson, Cynthia
Gonorazky, Hernan
Grunebaum, Eyal
Inbar-Feigenberg, Michal
Karp, Natalya
Morel, Chantal
Rusnak, Alison
Sondheimer, Neal
Warman-Chardon, Jodi
Bhola, Priya T.
Bourque, Danielle K.
Chacon, Inara J.
Chad, Lauren
Chakraborty, Pranesh
Chong, Karen
Doja, Asif
Goh, Elaine Suk-Ying
Saleh, Maha
Potter, Beth K.
Marshall, Christian R.
Dyment, David A.
Kernohan, Kristin
Boycott, Kym M.
Care4Rare Canada
DB Label
Database : Science Citation Index Expanded
원문보기
Full Text (Wiley-DB)  조회 - Impact Factor (JCR)  등재 - Web of Science  등재 - SCOPUS  원문복사신청 - RISS 
10
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects 미리보기

학술저널

issue
AMERICAN JOURNAL OF HUMAN GENETICS; AUG 6 2020, 107 2, p311-p324, 14p.
Author
Manole, Andreea
Efthymiou, Stephanie
O'Connor, Emer
Mendes, Marisa, I
Jennings, Matthew
Maroofian, Reza
Davagnanam, Indran
Mankad, Kshitij
Lopez, Maria Rodriguez
Salpietro, Vincenzo
Harripaul, Ricardo
Badalato, Lauren
Walia, Jagdeep
Francklyn, Christopher S.
Athanasiou-Fragkouli, Alkyoni
Sullivan, Roisin
Desai, Sonal
Baranano, Kristin
Zafar, Faisal
Rana, Nuzhat
Ilyas, Muhammed
Horga, Alejandro
Kara, Majdi
Mattioli, Francesca
Goldenberg, Alice
Griffin, Helen
Piton, Amelie
Henderson, Lindsay B.
Kara, Benyekhlef
Aslanger, Ayca Dilruba
Raaphorst, Joost
Pfundt, Rolph
Portier, Ruben
Shinawi, Marwan
Kirby, Amelia
Christensen, Katherine M.
Wang, Lu
Rosti, Rasim O.
Paracha, Sohail A.
Sarwar, Muhammad T.
Jenkins, Dagan
Ahmed, Jawad
Santoni, Federico A.
Ranza, Emmanuelle
Iwaszkiewicz, Justyna
Cytrynbaum, Cheryl
Weksberg, Rosanna
Wentzensen, Ingrid M.
Sacoto, Maria J. Guillen
Si, Yue
Telegrafi, Aida
Andrews, Marisa, V
Baldridge, Dustin
Gabriel, Heinz
Mohr, Julia
Oehl-Jaschkowitz, Barbara
Debard, Sylvain
Senger, Bruno
Fischer, Frederic
van Ravenwaaij, Conny
Fock, Annemarie J. M.
Stevens, Servi J. C.
Bahler, Jurg
Nasar, Amina
Mantovani, John F.
Manzur, Adnan
Sarkozy, Anna
Smith, Desiree E. C.
Salomons, Gajja S.
Ahmed, Zubair M.
Riazuddin, Shaikh
Riazuddin, Saima
Usmani, Muhammad A.
Seibt, Annette
Ansar, Muhammad
Antonarakis, Stylianos E.
Vincent, John B.
Ayub, Muhammad
Grimmel, Mona
Jelsig, Anne Marie
Hjortshoj, Tina Duelund
Karstensen, Helena Gasdal
Hummel, Marybeth
Haack, Tobias B.
Jamshidi, Yalda
Distelmaier, Felix
Horvath, Rita
Gleeson, Joseph G.
Becker, Hubert
Mandel, Jean-Louis
Koolen, David A.
Houlden, Henry
SYNAPS Study Grp
DB Label
Database : Science Citation Index Expanded
원문보기
Full Text (ScienceDirect O/A)  조회 - Impact Factor (JCR)  등재 - Web of Science  등재 - SCOPUS  원문복사신청 - FRIC 
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