Gee LMV, Barron-Millar B, Leslie J, Richardson C, Zaki MYW, Luli S, et al. Anti-Cholestatic Therapy with Obeticholic Acid Improves Short-Term Memory in Bile Duct-Ligated Mice. Am J Pathol. 2023 Jan;193(1):11-26 doi: 10.1016/j.ajpath.2022.09.005. PMID: 36243043
Thompson AJ, Alwan YM, Ramani VAC, Evans DG, Maher ER, Woodward ER. Cost-effectiveness model of renal cell carcinoma (RCC) surveillance in hereditary leiomyomatosis and renal cell carcinoma (HLRCC). J Med Genet. 2023 Jan;60(1):41-7 doi: 10.1136/jmedgenet2021-108215. PMID: 35121648
Hanson H, Durkie M, Lalloo F, Izatt L, McVeigh TP, Cook JA, et al. UK recommendations for SDHA germline genetic testing and surveillance in clinical practice. J Med Genet. 2023 Feb;60(2):107-11 doi: 10.1136/jmedgenet-2021-108355. PMID: 35260474
Carton C, Evans DG, Blanco I, Friedrich RE, Ferner RE, Farschtschi S, et al. ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1. EClinicalMedicine. 2023 Feb;56:101818 doi: 10.1016/j.eclinm.2022.101818. PMID: 36684394
Bilo L, Ochoa E, Lee S, Dey D, Kurth I, Kraft F, et al. Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach. Clin Epigenetics. 2023 Mar 1;15(1):35 doi: 10.1186/s13148-023-01453-5. PMID: 36859312
Nyberg T, Brook MN, Ficorella L, Lee A, Dennis J, Yang X, et al. CanRisk-Prostate: A Comprehensive, Externally Validated Risk Model for the Prediction of Future Prostate Cancer. J Clin Oncol. 2023 Feb 10;41(5):1092-104 doi: 10.1200/JCO.22.01453. PMID: 36493335
Hendricks LAJ, Hoogerbrugge N, Mensenkamp AR, Brunet J, Lleuger-Pujol R, Høberg-Vetti H, et al. Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome. J Natl Cancer Inst. 2023 Jan 10;115(1):93-103 doi: 10.1093/jnci/djac188. PMID: 36171661
Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, et al. Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes. Lancet Oncol. 2023 Jan;24(1):91-106 doi: 10.1016/S1470-2045(22)00643-X. PMID: 36436516
Lee CYC, Olivier A, Honing J, Lydon AM, Richardson S, O’Donovan M, et al. Endoscopic surveillance with systematic random biopsy for the early diagnosis of hereditary diffuse gastric cancer: a prospective 16-year longitudinal cohort study. Lancet Oncol. 2023 Jan;24(1):107-16 doi: 10.1016/S1470-2045(22)00700-8. PMID: 36509094
Larionov A, Fewings E, Redman J, Goldgraben M, Clark G, Boice J, et al. The Contribution of Germline Pathogenic Variants in Breast Cancer Genes to Contralateral Breast Cancer Risk in BRCA1/BRCA2/PALB2-Negative Women. Cancers (Basel). 2023 Jan 8;15(2):415 doi: 10.3390/cancers15020415. PMID: 36672364
Fierheller CT, Alenezi WM, Serruya C, Revil T, Amuzu S, Bedard K, et al. Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene. Genes (Basel). 2023 Jan 20;14(2):277 doi: 10.3390/genes14020277. PMID: 36833203
Mavaddat N, Ficorella L, Carver T, Lee A, Cunningham AP, Lush M, et al. Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model. Cancer Epidemiol Biomarkers Prev. 2023 Mar 6;32(3):422-7 doi: 10.1158/1055-9965.EPI-22-0756. PMID: 36649146
Allen I, Hassan H, Sofianopoulou E, Eccles D, Turnbull C, Tischkowitz M, et al. Risks of second non-breast primaries following breast cancer in women: a systematic review and meta-analysis. Breast Cancer Res. 2023 Feb 10;25(1):18 doi: 10.1186/s13058-023-01610-x. PMID: 36765408
Luen SJ, Viale G, Nik-Zainal S, Savas P, Kammler R, Dell’Orto P, et al. Genomic characterisation of hormone receptor-positive breast cancer arising in very young women. Ann Oncol. 2023 Apr;34(4):397-409. PMID: 36709040
Themistocleous AC, Baskozos G, Blesneac I, Comini M, Megy K, Chong S, et al. Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort. Brain Commun. 2023;5(2):fcad037 doi: 10.1093/braincomms/fcad037. PMID: 36895957
Lawson JS, Syme HM, Antrobus PR, Karttunen JM, Stewart SE, Karet Frankl FE, et al. Urinary extracellular vesicles as a source of protein-based biomarkers in feline chronic kidney disease and hypertension. J Small Anim Pract. 2023 Jan;64(1):3-11 doi: 10.1111/jsap.13536. PMID: 35799320
Wolstencroft J, Srinivasan R, Hall J, van den Bree MBM, Owen MJ, IMAGINE Consortium, et al. Mental health impact of autism on families of children with intellectual and developmental disabilities of genetic origin. JCPP Advances. 3( 1), e12128 doi: 10.1002/jcv2.12128.
Hasenahuer MA, Sanchis-Juan A, Laskowski RA, Baker JA, Stephenson JD, Orengo CA, et al. Mapping the Constrained Coding Regions in the Human Genome to Their Corresponding Proteins. J Mol Biol. 2023 Jan 30;435(2):167892 doi: 10.1016/j.jmb.2022.167892. PMID: 36410474
Synofzik M, Rugarli E, Reid E, Schüle R. Ataxia and spastic paraplegia in mitochondrial disease. Handb Clin Neurol. 2023;194:79-98 doi: 10.1016/B978-0-12-821751-1.00009-9. PMID: 36813322
Mulcahy V, Liaskou E, Martin JE, Kotagiri P, Badrock J, Jones RL, et al. Regulation of immune responses in primary biliary cholangitis: a transcriptomic analysis of peripheral immune cells. Hepatol Commun. 2023 Apr 1;7(4):e0110 doi: 10.1097/HC9.0000000000000110. PMID: 37026715
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, et al. Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland. N Engl J Med. 2023 Apr 27;388(17):1559-71 doi: 10.1056/NEJMoa2209046. PMID: 37043637