| Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria V Pejaver, AB Byrne, BJ Feng, KA Pagel, SD Mooney, R Karchin, ... The American Journal of Human Genetics 109 (12), 2163-2177, 2022 | 175 | 2022 |
| Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup LC Walker, M de la Hoya, GAR Wiggins, A Lindy, LM Vincent, MT Parsons, ... The American Journal of Human Genetics 110 (7), 1046-1067, 2023 | 62 | 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 | 51 | 2022 |
| matchbox: An open‐source tool for patient matching via the Matchmaker Exchange H Arachchi, MH Wojcik, B Weisburd, JOB Jacobsen, E Valkanas, S Baxter, ... Human mutation 39 (12), 1827-1834, 2018 | 26 | 2018 |
| Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6 AB Byrne, P Arts, SW Polyak, J Feng, AW Schreiber, KS Kassahn, ... NPJ Genomic Medicine 4 (1), 28, 2019 | 25 | 2019 |
| Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema AB Byrne, P Brouillard, DL Sutton, J Kazenwadel, S Montazaribarforoushi, ... Science translational medicine 14 (634), eabm4869, 2022 | 23 | 2022 |
| Posterior neocortex-specific regulation of neuronal migration by CEP85L identifies maternal centriole-dependent activation of CDK5 A Kodani, C Kenny, A Lai, DM Gonzalez, E Stronge, GM Sejourne, ... Neuron 106 (2), 246-255. e6, 2020 | 23 | 2020 |
| Evidence-based calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for clinical use of PP3/BP4 criteria V Pejaver, AB Byrne, BJ Feng, KA Pagel, SD Mooney, R Karchin, ... bioRxiv, 2022.03. 17.484479, 2022 | 21 | 2022 |
| Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death AB Byrne, P Arts, TT Ha, KS Kassahn, LS Pais, A O’Donnell-Luria, ... Nature Medicine 29 (1), 180-189, 2023 | 20 | 2023 |
| Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis AB Byrne, S Mizumoto, P Arts, P Yap, J Feng, AW Schreiber, M Babic, ... Journal of Medical Genetics 57 (7), 454-460, 2020 | 12 | 2020 |
| Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1‐related syndrome P Arts, J Garland, AB Byrne, TSE Hardy, M Babic, J Feng, P Wang, T Ha, ... American Journal of Medical Genetics Part A 182 (5), 1273-1277, 2020 | 12 | 2020 |
| Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation E Tudini, J Andrews, DM Lawrence, SL King-Smith, N Baker, L Baxter, ... The American Journal of Human Genetics 109 (11), 1960-1973, 2022 | 10 | 2022 |
| Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort PJ van der Sluijs, M Joosten, C Alby, T Attié-Bitach, K Gilmore, C Dubourg, ... Genetics in Medicine 24 (8), 1753-1760, 2022 | 10 | 2022 |
| Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia C De Angelis, AB Byrne, R Morrow, J Feng, T Ha, P Wang, AW Schreiber, ... BMC Medical Genomics 14, 1-7, 2021 | 10 | 2021 |
| Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability NB Tan, AT Pagnamenta, MP Ferla, J Gadian, BHY Chung, MCY Chan, ... Journal of Medical Genetics 59 (5), 511-516, 2022 | 9 | 2022 |
| Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group RJ Schmidt, M Steeves, P Bayrak-Toydemir, KA Benson, BP Coe, ... Genetics in Medicine 26 (3), 101036, 2024 | 7 | 2024 |
| ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification LG Biesecker, AB Byrne, SM Harrison, T Pesaran, AA Schäffer, BH Shirts, ... The American Journal of Human Genetics 111 (1), 24-38, 2024 | 6 | 2024 |
| The genomic autopsy: using whole exome and whole genome sequencing to solve complex fetal and neonatal presentations CP Barnett, A Byrne, L Moore, Y Khong, N Manton, J Lipsett American Society of Human Genetics Annual Meeting, 2016 | 5 | 2016 |
| A rare splice-site variant in cardiac troponin-T (TNNT2): The need for ancestral diversity in genomic reference datasets A Butters, K Thomson, F Harrington, N Henden, K McGuire, AB Byrne, ... medRxiv, 2024.02. 08.24302375, 2024 | 1 | 2024 |
| Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations SL Stenton, V Pejaver, T Bergquist, LG Biesecker, AB Byrne, E Nadeau, ... medRxiv, 2024 | | 2024 |
