Rosanna Weksberg
Affiliations: | Medical Science | University of Toronto, Toronto, ON, Canada |
Area:
Human Development, Molecular Biology, GeneticsGoogle:
"Rosanna Weksberg"Children
Sign in to add trainee| Jose C. Pinto Barreto Ferreira | grad student | 2011 | University of Toronto |
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Publications
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| Awamleh Z, Choufani S, Wu W, et al. (2024) A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European Journal of Human Genetics : Ejhg. 32: 324-332 |
| White-Brown A, Choufani S, Weksberg R, et al. (2023) Missense variant in SRCAP with distinct DNA methylation signature associated with non-FLHS SRCAP-related neurodevelopmental disorder. American Journal of Medical Genetics. Part A |
| Awamleh Z, Choufani S, Cytrynbaum C, et al. (2022) ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome. Human Molecular Genetics |
| Choufani S, McNiven V, Cytrynbaum C, et al. (2022) An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome. American Journal of Human Genetics |
| Choufani S, Ko JM, Lou Y, et al. (2021) Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome. Genes. 12 |
| Goodman SJ, Burton CL, Butcher DT, et al. (2020) Obsessive-compulsive disorder and attention-deficit/hyperactivity disorder: distinct associations with DNA methylation and genetic variation. Journal of Neurodevelopmental Disorders. 12: 23 |
| Manole A, Efthymiou S, O'Connor E, et al. (2020) De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. American Journal of Human Genetics |
| Guillen Sacoto MJ, Tchasovnikarova IA, Torti E, et al. (2020) De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. American Journal of Human Genetics |
| Turinsky AL, Choufani S, Lu K, et al. (2020) EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases. Human Mutation |
| Choufani S, Gibson WT, Turinsky AL, et al. (2020) DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes. American Journal of Human Genetics |