| Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care SL Sawyer, T Hartley, DA Dyment, CL Beaulieu, J Schwartzentruber, ... Clinical genetics 89 (3), 275-284, 2016 | 418 | 2016 |
| Histone H3K36 mutations promote sarcomagenesis through altered histone methylation landscape C Lu, SU Jain, D Hoelper, D Bechet, RC Molden, L Ran, D Murphy, ... Science 352 (6287), 844-849, 2016 | 373 | 2016 |
| Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype SL Sawyer, L Tian, M Kähkönen, J Schwartzentruber, M Kircher, ... Cancer discovery 5 (2), 135-142, 2015 | 307 | 2015 |
| SNP association studies in Alzheimer's disease highlight problems for complex disease analysis T Emahazion, L Feuk, M Jobs, SL Sawyer, D Fredman, D St Clair, ... TRENDS in Genetics 17 (7), 407-413, 2001 | 250 | 2001 |
| Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease JA Prince, L Feuk, SL Sawyer, J Gottfries, A Ricksten, K NaÈgga, ... European Journal of Human Genetics 9 (6), 437-444, 2001 | 185 | 2001 |
| Linkage disequilibrium patterns vary substantially among populations SL Sawyer, N Mukherjee, AJ Pakstis, L Feuk, JR Kidd, AJ Brookes, ... European journal of human genetics 13 (5), 677-686, 2005 | 156 | 2005 |
| An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge CA Brownstein, AH Beggs, N Homer, B Merriman, TW Yu, KC Flannery, ... Genome biology 15, 1-18, 2014 | 119 | 2014 |
| Exome sequencing as a diagnostic tool for pediatric‐onset ataxia SL Sawyer, J Schwartzentruber, CL Beaulieu, D Dyment, A Smith, ... Human mutation 35 (1), 45-49, 2014 | 109 | 2014 |
| Whole‐exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study DA Dyment, M Tetreault, CL Beaulieu, T Hartley, P Ferreira, JW Chardon, ... Clinical genetics 88 (1), 34-40, 2015 | 108 | 2015 |
| The expanding clinical and genetic spectrum of ATP1A3-related disorders H Rosewich, A Ohlenbusch, P Huppke, L Schlotawa, M Baethmann, ... Neurology 82 (11), 945-955, 2014 | 106 | 2014 |
| University of Washington Centre for Mendelian G, et al SL Sawyer, L Tian, M Kahkonen, J Schwartzentruber, M Kircher, ... Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype. Cancer …, 2015 | 100 | 2015 |
| Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin LM McDonell, KD Kernohan, KM Boycott, SL Sawyer Human molecular genetics 24 (R1), R60-R66, 2015 | 96 | 2015 |
| Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management M Avila, DA Dyment, JV Sagen, J St‐Onge, U Moog, BHY Chung, S Mo, ... Clinical genetics 89 (4), 501-506, 2016 | 76 | 2016 |
| Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy SL Sawyer, A Cheuk-Him Ng, AM Innes, JD Wagner, DA Dyment, ... Human Molecular Genetics 24 (18), 5109-5114, 2015 | 75 | 2015 |
| Haplotype block structures show significant variation among populations N Liu, SL Sawyer, N Mukherjee, AJ Pakstis, JR Kidd, KK Kidd, AJ Brookes, ... Genetic Epidemiology: The Official Publication of the International Genetic …, 2004 | 65 | 2004 |
| SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females FC Radio, K Pang, A Ciolfi, MA Levy, A Hernández-García, L Pedace, ... The American Journal of Human Genetics 108 (3), 502-516, 2021 | 61 | 2021 |
| Identification of genes for childhood heritable diseases KM Boycott, DA Dyment, SL Sawyer, MR Vanstone, CL Beaulieu Annual review of medicine 65, 19-31, 2014 | 41 | 2014 |
| Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome TB Balci, J Davila, D Lewis, A Boafo, E Sell, J Richer, SM Nikkel, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 177 …, 2018 | 38 | 2018 |
| MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability E Ylikallio, R Woldegebriel, M Tumiati, P Isohanni, MM Ryan, Z Stark, ... Brain 140 (8), 2093-2103, 2017 | 38 | 2017 |
| Brain malformations in a patient with deletion 2p16. 1: A refinement of the phenotype to BCL11A TB Balci, SL Sawyer, J Davila, P Humphreys, DA Dyment European journal of medical genetics 58 (6-7), 351-354, 2015 | 37 | 2015 |
Francois P. BernierProfessor, Department of Medical Genetics, University of CalgaryVerified email at ucalgary.ca
