| Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum KM Keppler‐Noreuil, JC Sapp, MJ Lindhurst, VER Parker, C Blumhorst, ... American journal of medical genetics Part A 164 (7), 1713-1733, 2014 | 301 | 2014 |
| In Brief: BRCA1 and BRCA2 WD Foulkes, AY Shuen The Journal of pathology 230 (4), 347-349, 2013 | 155 | 2013 |
| Inherited mutations in breast cancer genes—risk and response AY Shuen, WD Foulkes Journal of mammary gland biology and neoplasia 16, 3-15, 2011 | 113 | 2011 |
| Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: neurodevelopmental outcome CR Coughlin II, CDM van Karnebeek, W Al-Hertani, AY Shuen, ... Molecular Genetics and Metabolism 116 (1-2), 35-43, 2015 | 110 | 2015 |
| BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes E Aref-Eshghi, EG Bend, RL Hood, LC Schenkel, DA Carere, ... Nature communications 9 (1), 4885, 2018 | 108 | 2018 |
| Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group M Aronson, C Colas, A Shuen, H Hampel, WD Foulkes, HB Feldman, ... Journal of Medical Genetics 59 (4), 318-327, 2022 | 69 | 2022 |
| Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families DJ Osher, K De Leeneer, G Michils, N Hamel, E Tomiak, B Poppe, ... British journal of cancer 106 (8), 1460-1463, 2012 | 66 | 2012 |
| Genetic variation at the calcium-sensing receptor (CASR) locus: implications for clinical molecular diagnostics FHJ Yun, BYL Wong, M Chase, AY Shuen, L Canaff, K Thongthai, ... Clinical biochemistry 40 (8), 551-561, 2007 | 60 | 2007 |
| Calcium-sensing receptor mutations and denaturing high performance liquid chromatography DEC Cole, FHJ Yun, BYL Wong, AY Shuen, RA Booth, A Scillitani, ... Journal of molecular endocrinology 42 (4), 331-339, 2009 | 43 | 2009 |
| The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations A Villani, S Davidson, N Kanwar, WW Lo, Y Li, S Cohen-Gogo, F Fuligni, ... Nature Cancer 4 (2), 203-221, 2023 | 31 | 2023 |
| Evaluation of the warfarin-resistance polymorphism, VKORC1 Asp36Tyr, and its effect on dosage algorithms in a genetically heterogeneous anticoagulant clinic AY Shuen, BYL Wong, L Fu, R Selby, DEC Cole Clinical biochemistry 45 (6), 397-401, 2012 | 29 | 2012 |
| Functional repair assay for the diagnosis of constitutional mismatch repair deficiency from non-neoplastic tissue AY Shuen, S Lanni, GB Panigrahi, M Edwards, L Yu, BB Campbell, ... Journal of Clinical Oncology, 461-470, 2019 | 28 | 2019 |
| Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family V Guarnieri, RM Seaberg, C Kelly, M Jean Davidson, S Raphael, ... BMC medical genetics 18, 1-9, 2017 | 25 | 2017 |
| Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours N Sabbaghian, A Bahubeshi, AY Shuen, PA Kanetsky, MD Tischkowitz, ... BMC Research Notes 6, 1-5, 2013 | 17 | 2013 |
| Genetic determinants of extracellular magnesium concentration: Analysis of multiple candidate genes, and evidence for association with the estrogen receptor α (ESR1) locus AY Shuen, BYL Wong, C Wei, Z Liu, M Li, DEC Cole Clinica Chimica Acta 409 (1-2), 28-32, 2009 | 13 | 2009 |
| Clinical implications of next-generation sequencing for cancer medicine A Shuen, WD Foulkes Current Oncology 17 (5), 39-42, 2010 | 8 | 2010 |
| An infant with MLH3 variants, FOXG1‐duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study R Kansal, X Li, J Shen, D Samuel, F Laningham, H Lee, GB Panigrahi, ... Genes, Chromosomes and Cancer 55 (2), 131-142, 2016 | 7 | 2016 |
| Spread of X inactivation on chromosome 15 is associated with a more severe phenotype in a girl with an unbalanced t (X; 15) translocation KS Yeung, YY Chee, HM Luk, ASY Kan, MHY Tang, ET Lau, AY Shuen, ... American Journal of Medical Genetics Part A 164 (10), 2521-2528, 2014 | 3 | 2014 |
| Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes MO Levitin, LE Rawlins, G Sanchez-Andrade, OA Arshad, SC Collins, ... Brain 146 (11), 4766-4783, 2023 | 1 | 2023 |
| Mouse and cellular models of KPTN-related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes MO Levitin, LE Rawlins, G Sanchez-Andrade, OA Arshad, SC Collins, ... bioRxiv, 2022.07. 15.500213, 2022 | 1 | 2022 |
William D. FoulkesProfessor of Oncology, Medicine, and Human Genetics. McGill UniversityVerified email at mail.mcgill.ca
