Genomics England Research Consortium, Jackson, A, Lin, S-J, Jones, E A, Chandler, K E, Orr, D, Moss, C, Haider, Z, Ryan, G, Harrison, M, Burrows, N, Jones, W D, Loveless, M, Petree, C, Stewart, H, Low, K, Donnelly, D, Lovell, S, Drosou, K, Varshney, G K & Banka, S 2023, ' Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related Autosomal Recessive Ectodermal Dysplasia 14 ', Human Genetics and Genomics Advances, vol. 4, no. 2, 100186, pp. 100186 . https://doi.org/10.1016/j.xhgg.2023.100186 Banka, S 2023, ' Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 ', Human Genetics and Genomics Advances, vol. 4, no. 2, 100186 . https://doi.org/10.1016/j.xhgg.2023.100186 HGG Adv HGG Advances, 4, 2
Genetics in Medicine, 25 GENETICS IN MEDICINE Solve-RD DITF-ITHACA 2023, ' A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 4, pp. 100018 . https://doi.org/10.1016/j.gim.2023.100018 Genetics in Medicine, 25, 4
European Journal of Human Genetics, 29, 1332-1336 European journal of human genetics European journal of human genetics, 29(9):13321336 European Journal of Human Genetics, 29(9), 1332-1336. Nature Publishing Group European journal of human genetics 29(9), 1332-1336 (2021). doi:10.1038/s41431-021-00901-1 European Journal of Human Genetics European Journal of Human Genetics, 29, 9, pp. 1332-1336