Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Danielle K Bourque"'
Autor:
Krista M. Vincent, Danielle K. Bourque
Publikováno v:
Brain and Development. 45:244-249
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::adfd4741645e99de6f67b1f905af3b4d
https://doi.org/10.1016/j.braindev.2023.01.003
https://doi.org/10.1016/j.braindev.2023.01.003
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
Autor:
Graeme A M Nimmo, Jeff Kobayashi, Dawn Cordeiro, Saadet Mercimek-Andrews, Danielle K. Bourque
Publikováno v:
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. :1-5
Background: Glucose Transporter-1 (GLUT1) Deficiency Syndrome (GLUT1DS) is caused by defective transport of glucose across the blood–brain barrier into brain cells resulting in hypoglycorrhachia due to the heterozygous pathogenic variants in SLC2A1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4353e923414cdeb914bccc604b83fd43
https://doi.org/10.1017/cjn.2021.3
https://doi.org/10.1017/cjn.2021.3
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
https://doi.org/10.1002/humu.23833
Autor:
Eric Bareke, David Grynspan, Jean Michaud, Danielle K Bourque, Mireille Cloutier, Kristin D. Kernohan, Kym M. Boycott
Publikováno v:
American Journal of Medical Genetics Part A. 179:813-816
Neu-Laxova syndrome (NLS) is a lethal autosomal recessive microcephaly syndrome associated with intrauterine growth restriction (IUGR) and multiple congenital anomalies. Clinical features include central nervous system malformations, joint contractur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::096d61f6f73ca6d22e555d1b89853e2e
https://doi.org/10.1002/ajmg.a.61076
https://doi.org/10.1002/ajmg.a.61076
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
https://doi.org/10.1002/bdr2.1896
Autor:
Andreas Schulze, Komudi Siriwardena, Lizbeth E. Mellin‐Sanchez, Julian Raiman, Vivian Cruz, Saadet Mercimek-Andrews, Danielle K. Bourque, Anette Feigenbaum, Stacy Hewson, Garrett Bullivant
Publikováno v:
JIMD Reports
Biallelic variants in MMACHC results in the combined methylmalonic aciduria and homocystinuria, called cobalamin (cbl) C (cblC) deficiency. We report 26 patients with cblC deficiency with their phenotypes, genotypes, biochemical parameters, and treat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32371f59ff40129cde87ccf7059ec7c3
https://pubmed.ncbi.nlm.nih.gov/33473346
https://pubmed.ncbi.nlm.nih.gov/33473346
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
https://doi.org/10.1038/s10038-018-0484-1
Autor:
Michelle M. Axford, Andrea Staines, Danielle K. Bourque, David Chitayat, David A. Chiasson, Rebekah Jobling, Inara Chacon Fonseca, Ronni Teitelbaum
Publikováno v:
American Journal of Medical Genetics Part A.
Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) is a rare, autosomal dominant disorder of interstitial lung development, leading to pulmonary hypertension, and death in infancy. Associated features include malformations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e23a87c89d8d3f8f0fdd40deafe8086
https://doi.org/10.1002/ajmg.a.61162
https://doi.org/10.1002/ajmg.a.61162
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
https://pubmed.ncbi.nlm.nih.gov/29066376