Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data

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

Genome‐wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome

Autor: Jennifer Kerkhof, Deanna Alexis Carere, Peter Ainsworth, Erfan Aref-Eshghi, Hanxin Lin, Bekim Sadikovic, Christine M. Armour, Danielle K Bourque

Publikováno v: Human Mutation. 40:1684-1689

Nontruncating sequence variants represent a major challenge in variant interpretation and classification. Here, we report a patient with features of Kabuki syndrome who carries two rare heterozygous variants in KMT2D: c.12935C>T, p.(Ser4312Phe) and c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba636dca2a45b93c4c6a98ffe0fb42d0
https://doi.org/10.1002/humu.23833

Gastroschisis in Ontario, Canada: 2012–2018

Autor: Lynn Meng, Catherine Riddell, Danielle K Bourque, Christine M. Armour, Shelley Dougan, Mark Walker, Franco Momoli

Publikováno v: Birth Defects Research.

Background Gastroschisis is a congenital anomaly of the abdomen in which the intestines are found outside of the body at birth. While no clear causative factors have been identified, it is strongly associated with young maternal age. Other reported a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18f9540ed4590e4c9c09be0849e0abfd
https://doi.org/10.1002/bdr2.1896

Periodic breathing in patients with NALCN mutations

Autor: Ian MacLusky, David A. Dyment, Kristin D. Kernohan, Hugh J. McMillan, Danielle K Bourque

Publikováno v: Journal of Human Genetics. 63:1093-1096

Biallelic mutations in NALCN are responsible for infantile hypotonia with psychomotor retardation and characteristic facies 1 (IHPRF1). Common features of this condition include severe neonatal-onset hypotonia and profound global developmental delay.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bff35d27d86e4e4dac64da46e73481b5
https://doi.org/10.1038/s10038-018-0484-1

A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature

Autor: Danielle K Bourque, Martine Tétreault, Kristin D. Kernohan, Taila Hartley, Daniela Pohl, Sarah M. Nikkel, David A. Dyment

Publikováno v: European journal of medical genetics. 61(2)

Intellectual disability (ID) affects 1–2% of the general population and up to 50% of those with ID are estimated to have an underlying genetic cause. Next-generation sequencing provides an efficient means to identify the molecular causes of monogen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84b49dd941335b9e5f391b93f670f5ba
https://pubmed.ncbi.nlm.nih.gov/29066376