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Alexandre White-Brown
Alexandre White-Brown
在 cheo.on.ca 的电子邮件经过验证
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De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
X Jia, S Zhang, S Tan, B Du, M He, H Qin, J Chen, X Duan, J Luo, F Chen, ...
Science advances 8 (33), eabo7112, 2022
172022
Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its Wolf-Hirschhorn associated DNA methylation episignature
H McConkey, A White-Brown, J Kerkhof, D Dyment, B Sadikovic
Frontiers in Cell and Developmental Biology 10, 1022683, 2022
92022
A disease‐causing variant in HNRNPH2 inherited from an unaffected mother with skewed X‐inactivation
AM White‐Brown, G Lemire, YA Ito, O Thornburg, JM Bain, DA Dyment
American Journal of Medical Genetics Part A 188 (2), 668-671, 2021
72021
Missense variant in SRCAP with distinct DNA methylation signature associated with non‐FLHS SRCAP‐related neurodevelopmental disorder
A White‐Brown, S Choufani, Care4Rare Canada Consortium, ...
American Journal of Medical Genetics Part A 191 (10), 2640-2646, 2023
52023
The benefit of multigene panel testing for the diagnosis and management of the genetic epilepsies
H Leduc-Pessah, A White-Brown, T Hartley, D Pohl, DA Dyment
Genes 13 (5), 872, 2022
52022
DLG4-Related Synaptopathy
Z Tümer, TJ Dye, C Prada, AM White-Brown, A MacKenzie, AM Levy
GeneReviews®[Internet], 2023
32023
Interstitial lung disease in a family with bi-allelic variants in ABCA3: non-specific interstitial pneumonitis pattern of injury
D El Demellawy, T Kovesi, R Gowans, I Oltean, L Huang, A White-Brown, ...
Pathology 56 (1), 104-107, 2024
12024
PRKAG2‐Related Lethal Congenital Glycogen Storage Disease of the Heart as Rare Cause of Fetal Hydrops With Bradycardia and Cardiomyopathy: Clinical …
AM White‐Brown, M Richard, AM Morency, C Maedler‐Kron, I De Bie
American Journal of Medical Genetics Part A, e63865, 2024
12024
Further characterization of CEP85L‐associated lissencephaly type 10: Report of a three‐generation family and review of the literature
H Leduc‐Pessah, A White‐Brown, E Miller, HJ McMillan, KM Boycott
American Journal of Medical Genetics Part A 191 (12), 2878-2883, 2023
12023
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations
S Haghshenas, K Karimi, RE Stevenson, MA Levy, R Relator, J Kerkhof, ...
The American Journal of Human Genetics 111 (8), 1643-1655, 2024
2024
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 …
T Hartley, D Marshall, M Acker, K Fooks, MK Gillespie, EM Price, ...
Genetics in Medicine 26 (2), 101012, 2024
2024
P195: Investigating the contribution of an intronic expansion repeat in FGF14 as a genetic cause of late-onset ataxia
A Cuillerier, L Mackay, E Wall, G Del Gobbo, L Seldenthuis, W Mears, ...
Genetics in Medicine Open 2, 2024
2024
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