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 | 17 | 2022 |
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 | 9 | 2022 |
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 | 7 | 2021 |
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 | 5 | 2023 |
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 | 5 | 2022 |
DLG4-Related Synaptopathy Z Tümer, TJ Dye, C Prada, AM White-Brown, A MacKenzie, AM Levy GeneReviews®[Internet], 2023 | 3 | 2023 |
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 | 1 | 2024 |
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 | 1 | 2024 |
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 | 1 | 2023 |
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 |