Publications

Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.

Trivellin G

N Engl J Med. 2014 Dec 3;371(25):2363-74. doi: 10.1056/NEJMoa1408028

Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion.

Trivellin G

Front Endocrinol (Lausanne). 2023 Jun 14;14:1166076. doi: 10.3389/fendo.2023.1166076

Guideline-based quality assurance: a conceptual framework for the definition of key elements.

Parmelli E

BMC Health Serv Res. 2021 Feb 24;21(1):173. doi: 10.1186/s12913-021-06148-2

Good or best practice statements: proposal for the operationalisation and implementation of GRADE guidance.

Dewidar O

BMJ Evid Based Med. 2022 Apr 15;28(3):189-196. doi: 10.1136/bmjebm-2022-111962

GRADE Concept 7: Issues and Insights Linking Guideline Recommendations to Trustworthy Essential Medicine Lists.

Piggott T

J Clin Epidemiol. 2023 Dec 19;166:111241. doi: 10.1016/j.jclinepi.2023.111241

Genetic profiling using plasma-derived cell-free DNA in therapy-naïve hepatocellular carcinoma patients: a pilot study.

Ng CKY

Ann Oncol. 29(5):1286-1291. doi: 10.1093/annonc/mdy083

Genomic characterization of metastatic breast cancers.

Bertucci F

Nature. 2019 May 22;569(7757):560-564. doi: 10.1038/s41586-019-1056-z

GATA3 and MDM2 are synthetic lethal in estrogen receptor-positive breast cancers.

Bianco G

Commun Biol. 2022 Apr 19;5(1):373. doi: 10.1038/s42003-022-03296-x

Genome-wide epistasis study highlights genetic interactions influencing severity of COVID-19.

Lin S

Eur J Epidemiol. 2023 Jun 26;38(8):883-889. doi: 10.1007/s10654-023-01020-5

Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.

Liu X

Nat Genet. 2010 Jul 18;42(8):658-60. doi: 10.1038/ng.627