| Use of whole-exome sequencing for diagnosis of limb-girdle muscular dystrophy: outcomes and lessons learned R Ghaoui, ST Cooper, M Lek, K Jones, A Corbett, SW Reddel, ... JAMA neurology 72 (12), 1424-1432, 2015 | 218 | 2015 |
| Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy R Ghaoui, J Palmio, J Brewer, M Lek, M Needham, A Evilä, P Hackman, ... Neurology 86 (4), 391-398, 2016 | 132 | 2016 |
| Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders MA Levy, H McConkey, J Kerkhof, M Barat-Houari, S Bargiacchi, ... Human Genetics and Genomics Advances 3 (1), 100075, 2022 | 128 | 2022 |
| Congenital titinopathy: comprehensive characterization and pathogenic insights EC Oates, KJ Jones, S Donkervoort, A Charlton, S Brammah, JE Smith III, ... Annals of neurology 83 (6), 1105-1124, 2018 | 120 | 2018 |
| Diagnosis and etiology of congenital muscular dystrophy: We are halfway there GL O'Grady, M Lek, SR Lamande, L Waddell, EC Oates, J Punetha, ... Annals of neurology 80 (1), 101-111, 2016 | 75 | 2016 |
| Expanding the phenotype of GMPPB mutations M Cabrera-Serrano, R Ghaoui, G Ravenscroft, RD Johnsen, MR Davis, ... Brain 138 (4), 836-844, 2015 | 67 | 2015 |
| Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder L Boyle, L Rao, S Kaur, X Fan, C Mebane, L Hamm, A Thornton, ... Human Genetics and Genomics Advances 2 (2), 100026, 2021 | 54 | 2021 |
| TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy R Ghaoui, T Benavides, M Lek, LB Waddell, S Kaur, KN North, ... Neuromuscular Disorders 26 (8), 500-503, 2016 | 51 | 2016 |
| Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders MA Levy, R Relator, H McConkey, E Pranckeviciene, J Kerkhof, ... Human mutation 43 (11), 1609-1628, 2022 | 47 | 2022 |
| MECP2 disorders S Kaur, J Christodoulou | 47 | 2019 |
| Clinician’s guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature B Schönewolf‐Greulich, AM Bisgaard, RS Møller, M Dunø, ... Clinical genetics 95 (2), 221-230, 2019 | 31 | 2019 |
| Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A) S Kaur, NJ Van Bergen, KJ Verhey, CJ Nowell, B Budaitis, Y Yue, ... Human mutation 41 (10), 1761-1774, 2020 | 24 | 2020 |
| Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine GL O'grady, HA Best, EC Oates, S Kaur, A Charlton, S Brammah, ... European Journal of Human Genetics 23 (6), 883-886, 2015 | 23 | 2015 |
| Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot–Marie–Tooth disease MP Menezes, L Waddell, GM Lenk, S Kaur, DG MacArthur, MH Meisler, ... Neuromuscular Disorders 24 (8), 666-670, 2014 | 22 | 2014 |
| Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements B Schönewolf‐Greulich, AM Bisgaard, M Dunø, C Jespersgaard, ... Clinical Genetics 95 (3), 403-408, 2019 | 16 | 2019 |
| Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient S Kaur, NJ Van Bergen, WA Gold, S Eggers, S Lunke, SM White, ... Clinical Case Reports 7 (12), 2476-2482, 2019 | 11 | 2019 |
| DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants N Vos, J Reilly, MW Elting, PM Campeau, D Coman, Z Stark, TY Tan, ... Epigenomics, 2023 | 4 | 2023 |
| Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A) S Kaur, NJ Van Bergen, B Ben-Zeev, E Leonardi, TY Tan, D Coman, ... Journal of genetics and genomics= Yi chuan xue bao 47 (10), 650-654, 2020 | 4 | 2020 |
| Blood-Based Transcriptomic Biomarkers Are Predictive of Neurodegeneration Rather Than Alzheimer’s Disease A Shvetcov, S Thomson, J Spathos, AN Cho, HM Wilkins, SJ Andrews, ... International Journal of Molecular Sciences 24 (19), 15011, 2023 | 2 | 2023 |
| Cover, Volume 41, Issue 10 S Kaur, NJ Van Bergen, KJ Verhey, CJ Nowell, B Budaitis, Y Yue, ... Human Mutation 41 (10), i-i, 2020 | | 2020 |
