selected scholarly activity
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conferences
- IDENTIFICATION OF A UNIQUE DNA METHYLATION SIGNATURE ASSOCIATED WITH NICOLAIDES-BARAITSER SYNDROME. American Journal of Medical Genetics, Part A. 703-703. 2019
- Urgent Management of Bleeding in Immune Thrombocytopenia: Towards a Standardized Protocol in the Emergency Department. Blood. 3517-3517. 2018
- PARASPINAL AND INTRA-ABDOMINAL NEUROFIBROMAS ASSOCIATED WITH SOS2 GENE MUTATION IN A PATIENT WITH NOONAN SYNDROME. American Journal of Medical Genetics, Part A. 1505-1505. 2018
- Emergency Management of Patients with Immune Thrombocytopenia and Severe Bleeding. Blood. 2017
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journal articles
- Severe Epilepsy in an Individual With a TSC2 R905Q Variant Prompting Late Diagnosis in Affected Family Members.. Pediatric Neurology. 161:158-161. 2024
- Diagnosis of TET3-Related Beck-Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a DNA Methylation Signature.. American Journal of Medical Genetics, Part A. e63864. 2024
- The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions. Genes. 15:332-332. 2024
- P311: Use of a DNA methylation signature for the diagnosis of TET3-related Beck-Fahrner syndrome and expansion of its related phenotype. Genetics in Medicine Open. 2:101206-101206. 2024
- De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling. American Journal of Human Genetics. 110:1377-1393. 2023
- Diagnosis and clinical presentation of two individuals with a rareTCF20pathogenic variant. BMJ Case Reports. 15:e248995-e248995. 2022
- Pathogenic DNM1 Gene Variant Presenting With Unusually Nonsevere Neurodevelopmental Phenotype: A Case Report. Neurology: Genetics. 7:e618. 2021
- Management of major bleeds in patients with immune thrombocytopenia. Journal of Thrombosis and Haemostasis. 18:1783-1790. 2020
- New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome. BMC Medical Genetics. 12:105. 2019
- Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant. Molecular Cytogenetics. 11:50. 2018
- Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia. Journal of Child Neurology. 33:397-404. 2018
- Primary mediastinal paraganglioma associated with a familial variant in the succinate dehydrogenase B subunit gene. Journal of Surgical Oncology. 117:160-162. 2018
- Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency. American Journal of Medical Genetics, Part A. 176:399-403. 2018
- De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay. American Journal of Medical Genetics, Part A. 173:2725-2730. 2017
- Child Neurology: Diencephalic syndrome–like presentation of a cervicomedullary brainstem tumor. Neurology. 87:e248-e251. 2016
- Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation. American Journal of Medical Genetics, Part A. 170:1070-1075. 2016
- The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up. Clinical Case Reports. 4:351-355. 2016
- Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine. npj Genomic Medicine. 1:15012-. 2016
- MG-119 The evolving features of nicolaides-baraitser syndrome – a case report of a twenty-years follow-up. Journal of Medical Genetics. 52:A5.1-A5. 2015
- Selective serotonin reuptake inhibitor discontinuation during pregnancy: at what risk?. Canadian Family Physician. 60:1105-1106. 2014
- NOTCH3-Related Lateral Meningocele Syndrome 1993