RESOURCES Publications Diagnosing Camurati–Engelmann disease—the age of whole-exome sequencing | Nagra D, et al | Rheumatology | Jul. 2023 An internal pilot study of a novel rectal mucocellular sampling device to allow next-generation sequencing for colorectal disease | Humphrey HN, et al | Techniques in Coloproctology | 2023 A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness | Segarra-Casas A, et al | Neuromuscular Disorders | Apr. 2023 Coincidence of primary adrenocortical carcinoma and melanoma: three CASE reports | Ko YL, et al | BMC Endocrine Disorders | Jan. 2023 oncology Exome sequencing reveals a high proportion of causal and candidate gene variants in a large early-onset primary ovarian insufficiency cohort | McGlacken-Byrne SM, et al | Hormone research in paediatrics | Sep. 2022 Cell3 Target A novel bead-capture nanopore sequencing method for large structural rearrangement detection in cancer | Fisher CL, et al | Journal of Molecular Diagnostics | Dec. 2022 Cell3 Target Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome | Suntharalingham JP, et al | Frontiers in Endocrinology | Aug. 2022 Cell3 Target Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita | Tummala H, et al | The American Journal of Human Genetics | Aug. 2022 Cell3 Target A new MAMLD1 variant in an infant with microphallus and hypospadias with hormonal pattern suggesting partial hypogonadotropic hypogonadism—case report | Yeste D, et al | Frontiers in Endocrinology | Jun. 2022 Cell3 Target Highly sensitive and specific detection of bladder cancer via targeted ultra-deep sequencing of urinary DNA | Ward DG, et al | European Urology Oncology | Feb. 2023 Cell3 Target,bladder cancer Pages: 123456Load More Publications SubmitFILTERSCustom panelsGermlineOncologyPrenatal healthcareSample collection and isolation Need help? Contact our support team