| New diagnostic approaches for undiagnosed rare genetic diseases T Hartley, G Lemire, KD Kernohan, HE Howley, DR Adams, KM Boycott Annual review of genomics and human genetics 21 (1), 351-372, 2020 | 106 | 2020 |
| The landscape of tolerated genetic variation in humans and primates H Gao, T Hamp, J Ede, JG Schraiber, J McRae, M Singer-Berk, Y Yang, ... Science 380 (6648), eabn8153, 2023 | 102 | 2023 |
| seqr: A web‐based analysis and collaboration tool for rare disease genomics LS Pais, H Snow, B Weisburd, S Zhang, SM Baxter, S DiTroia, E O'Heir, ... Human mutation 43 (6), 698-707, 2022 | 77 | 2022 |
| Beyond the exome: what’s next in diagnostic testing for Mendelian conditions MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ... The American Journal of Human Genetics 110 (8), 1229-1248, 2023 | 67 | 2023 |
| Centers for Mendelian Genomics: A decade of facilitating gene discovery SM Baxter, JE Posey, NJ Lake, N Sobreira, JX Chong, S Buyske, EE Blue, ... Genetics in Medicine 24 (4), 784-797, 2022 | 60 | 2022 |
| Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants LX Zhang, G Lemire, C Gonzaga-Jauregui, S Molidperee, ... Genetics in Medicine 22 (8), 1338-1347, 2020 | 48 | 2020 |
| Genome sequencing for diagnosing rare diseases MH Wojcik, G Lemire, E Berger, MS Zaki, M Wissmann, W Win, SM White, ... New England Journal of Medicine 390 (21), 1985-1997, 2024 | 36 | 2024 |
| Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease RG Lee, S Balasubramaniam, M Stentenbach, T Kralj, T McCubbin, ... Human molecular genetics 31 (21), 3597-3612, 2022 | 30 | 2022 |
| De novo KAT5 variants cause a syndrome with recognizable facial dysmorphisms, cerebellar atrophy, sleep disturbance, and epilepsy J Humbert, S Salian, P Makrythanasis, G Lemire, J Rousseau, ... The American Journal of Human Genetics 107 (3), 564-574, 2020 | 30 | 2020 |
| A case of familial transmission of the newly described DNMT3A‐Overgrowth Syndrome G Lemire, J Gauthier, JF Soucy, MA Delrue American Journal of Medical Genetics Part A 173 (7), 1887-1890, 2017 | 28 | 2017 |
| Recessive, deleterious variants in SMG8 expand the role of nonsense-mediated decay in developmental disorders in humans F Alzahrani, H Kuwahara, Y Long, M Al-Owain, M Tohary, M AlSayed, ... The American Journal of Human Genetics 107 (6), 1178-1185, 2020 | 24 | 2020 |
| Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies C Lowther, E Valkanas, JL Giordano, HZ Wang, BB Currall, K O’Keefe, ... The American Journal of Human Genetics 110 (9), 1454-1469, 2023 | 22 | 2023 |
| De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome Y Chen, R Dawes, HC Kim, A Ljungdahl, SL Stenton, S Walker, J Lord, ... Nature 632 (8026), 832-840, 2024 | 21 | 2024 |
| Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development JA Jurgens, BJ Barry, G Lemire, WM Chan, MC Whitman, S Shaaban, ... European Journal of Human Genetics 29 (5), 816-826, 2021 | 20 | 2021 |
| The recurrent de novo c. 2011C> T missense variant in MTSS2 causes syndromic intellectual disability Y Huang, G Lemire, LC Briere, F Liu, MW Wessels, X Wang, M Osmond, ... The American Journal of Human Genetics 109 (10), 1923-1931, 2022 | 18 | 2022 |
| ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies G Lemire, YA Ito, AE Marshall, N Chrestian, V Stanley, L Brady, ... The American Journal of Human Genetics 108 (10), 2017-2023, 2021 | 17 | 2021 |
| KAT6B disorders G Lemire, PM Campeau, BH Lee | 17 | 2020 |
| Retrospective analysis of fetal vertebral defects: associated anomalies, etiologies, and outcome GT Lemire, É Beauregard‐Lacroix, PM Campeau, S Parent, ... American journal of medical genetics Part A 182 (4), 664-672, 2020 | 16 | 2020 |
| Spliceosome malfunction causes neurodevelopmental disorders with overlapping features D Li, Q Wang, A Bayat, MR Battig, Y Zhou, DGM Bosch, G Van Haaften, ... The Journal of clinical investigation 134 (1), 2024 | 14 | 2024 |
| De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders Y Chen, R Dawes, HC Kim, SL Stenton, S Walker, A Ljungdahl, J Lord, ... medRxiv, 2024 | 13 | 2024 |
Kym BoycottProfessor of Pediatrics, Children's Hospital of Eastern Ontario, University of OttawaEmail được xác minh tại cheo.on.ca