| Third party interpretation of raw genetic data: an ethical exploration L Badalato, L Kalokairinou, P Borry European Journal of Human Genetics 25 (11), 1189-1194, 2017 | 66 | 2017 |
| De novo and bi-allelic pathogenic variants in NARS1 cause neurodevelopmental delay due to toxic gain-of-function and partial loss-of-function effects A Manole, S Efthymiou, E O’Connor, MI Mendes, M Jennings, ... The American Journal of Human Genetics 107 (2), 311-324, 2020 | 45 | 2020 |
| KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection L Badalato, SMK Farhan, AA Dilliott, Care4Rare Canada Consortium, ... American Journal of Medical Genetics Part A 173 (1), 183-189, 2017 | 26 | 2017 |
| Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology S Banka, A Bennington, MJ Baker, E Rijckmans, GD Clemente, NM Ansor, ... Brain 145 (12), 4232-4245, 2022 | 13 | 2022 |
| Fragile X testing as a second-tier test T Hartley, R Potter, L Badalato, AC Smith, O Jarinova, KM Boycott Genetics in Medicine 19 (12), 1380-1380, 2017 | 11 | 2017 |
| Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data T Hartley, É Soubry, M Acker, M Osmond, M Couse, MK Gillespie, Y Ito, ... Clinical genetics 103 (3), 288-300, 2023 | 5 | 2023 |
| Ethical considerations for genetic testing in the context of mandated cardiac screening before athletic participation EF Magavern, L Badalato, G Finocchiaro, P Borry Genetics in Medicine 19 (5), 493-495, 2017 | 4 | 2017 |
| Activating RAC1 variants in the switch II region cause a novel developmental syndrome and alter neuronal morphology that can be rescued by targeting CYFIP S Banka, A Bennington, E Rijckmans, G Clemente, N Ansor, H Sito, ... European Journal of Human Genetics 31, 27-27, 2023 | 1 | 2023 |
| Adults with paternal UPD14 causing Kagami–Ogata syndrome: Case report and review of the literature CS Smith, M Riddell, L Badalato, PYB Au American Journal of Medical Genetics Part A, e63625, 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 |
| P866: Exploring the impact of secondary findings in a cohort of patients and families receiving genome-wide sequencing K Fooks, L Vermeer, E Poole, S Luca, R Babul-Hirji, L Chad, D Chitayat, ... Genetics in Medicine Open 2, 2024 | | 2024 |
| P873:“If you look for a problem, you’ll find one”: A qualitative study to understand why parents/adult patients decline secondary findings A Hansen, S Luca, O Moran, R Babul-Hirji, J Yan, K Fooks, ... Genetics in Medicine Open 2, 2024 | | 2024 |
| Biallelic variants in HEATR5B associated with severe neurologic phenotypes in two additional families: further evidence for an autosomal recessive syndrome L Badalato, E Chan, V Kuret, J Lauzon EUROPEAN JOURNAL OF HUMAN GENETICS 32, 199-199, 2024 | | 2024 |
| HARS SYNDROME: EXPANSION OF THE NATURAL HISTORY OF THE DISORDER ASSOCIATED WITH HOMOZYGOUS Y454S MUTATIONS IN THE HISTIDYL-TRNA SYNTHETASE (HARS) GENE VM Siu, L Badalato, S Leat, DL McCulloch, N Hutchings, D Grynspan, ... AMERICAN JOURNAL OF MEDICAL GENETICS PART A 179 (4), 692-692, 2019 | | 2019 |
| MG-112 A KMT2D mutation segregating in a family presenting with autosomal dominant choanal atresia reinforces the kabuki/charge connexion L Badalato, SM Farhan, A Dilliott, R Hegele, S Goobie Journal of Medical Genetics 52 (Suppl 2), A5-A5, 2015 | | 2015 |
