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References from Genetic testing and reporting: what the endocrinologists should know and can expect (joint position paper of the ENDO-ERN). Local targets link to admitted publications; unresolved targets remain external evidence.
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders
10.1038/s41431-018-0099-1 · 2018 · External reference
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients
10.1016/j.gim.2023.100880 · 2023 · External reference
International guideline on genetic testing of children with short stature
10.1093/ejendo/lvag013 · 2026 · External reference
The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among endo-ERN centres
10.1530/ec-22-0367 · 2022 · External reference
Diagnosis and management of Silver-Russell syndrome: first international consensus statement
10.1038/nrendo.2016.138 · 2017 · External reference
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement
10.1038/s41574-018-0042-0 · 2018 · External reference
Hypoparathyroidism: genetics and diagnosis
10.1002/jbmr.4667 · 2022 · External reference
Multiple endocrine neoplasia type 1 (MEN1): recommendations and guidelines for best practice
10.1016/s2213-8587(25)00119-6 · 2025 · External reference
2024 European thyroid association guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action
10.1530/etj-24-0125 · 2024 · External reference
Genetic testing in pituitary adenomas: a Pituitary Society International Consensus Statement
10.1038/s41574-026-01291-4 · 2026 · External reference
Recommendations for whole genome sequencing in diagnostics for rare diseases
10.1038/s41431-022-01113-x · 2022 · External reference
Unresolved reference
2022 · External reference
A nationally agreed cross-professional competency framework to facilitate genomic testing
10.1016/j.gim.2022.04.023 · 2022 · External reference
Approaches to quality management and accreditation in a genetic testing laboratory
10.1038/ejhg.2010.104 · 2010 · External reference
Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (endo-ERN)
10.1186/s13023-020-01420-w · 2020 · External reference
Standards and guidelines for validating next-generation sequencing bioinformatics pipelines: a joint recommendation of the association for molecular pathology and the college of American pathologists
10.1016/j.jmoldx.2017.11.003 · 2018 · External reference
A practical guide to genetic testing in endocrinology
10.1111/cen.14596 · 2022 · External reference
Clinical genetic testing in endocrinology: current concepts and contemporary challenges
10.1111/cen.14053 · 2019 · External reference
Molecular genetic testing strategies used in diagnostic flow for hereditary endocrine tumour syndromes
10.1007/s12020-021-02636-x · 2021 · External reference
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
10.1038/s41588-021-01010-x · 2022 · External reference
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
10.1038/s41588-024-01836-1 · 2024 · External reference
Polygenic risk scores: an overview from bench to bedside for personalised medicine
10.3389/fgene.2022.1000667 · 2022 · External reference
Germline-focused analysis of tumour-detected variants in 49,264 cancer patients: ESMO Precision Medicine Working Group recommendations
10.1016/j.annonc.2022.12.003 · 2023 · External reference
Integrated genomic characterization of papillary thyroid carcinoma
10.1016/j.cell.2014.09.050 · 2014 · External reference
Molecular genetics and diagnosis of thyroid cancer
10.1038/nrendo.2011.142 · 2011 · External reference
Targeted mutational analysis of cortisol-producing adenomas
10.1210/clinem/dgab682 · 2022 · External reference
KCNJ5 somatic mutation is a predictor of hypertension remission after adrenalectomy for unilateral primary aldosteronism
10.1210/jc.2019-00531 · 2019 · External reference
Targeting RET in medullary thyroid cancer
10.1530/erc-24-0291 · 2025 · External reference
Molecular predictive biomarker testing in advanced thyroid cancer—a European consensus
10.1530/etj-25-0024 · 2025 · External reference
Circulating tumor DNA analysis in patients with cancer: American Society of Clinical Oncology and College of American Pathologists Joint Review
10.1200/jco.2017.76.8671 · 2018 · External reference
Detection of circulating tumor DNA in early- and late-stage human malignancies
10.1126/scitranslmed.3007094 · 2014 · External reference
Liquid biopsies come of age: towards implementation of circulating tumour DNA
10.1038/nrc.2017.7 · 2017 · External reference
Genotype-phenotype correlation and challenges in mutation detection in McCune-albright syndrome: a retrospective study of a French cohort
10.1016/j.ando.2026.102514 · 2026 · External reference
Genome architecture in endocrine diseases: X-linked Acrogigantism (X-LAG) syndrome
10.1016/j.ando.2026.102511 · 2026 · External reference
SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a multinational study of the European Network for the Study of Adrenal Tumors (ENS@T)
10.1038/modpathol.2015.41 · 2015 · External reference
Recurrent EZH1 mutations are a second hit in autonomous thyroid adenomas
10.1172/jci84894 · 2016 · External reference
Mutations in the deubiquitinase gene USP8 cause Cushing's disease
10.1038/ng.3166 · 2015 · External reference
Next generation sequencing in endocrine practice
10.1016/j.ymgme.2015.05.002 · 2015 · External reference
GENETICS IN ENDOCRINOLOGY: genetic diagnosis of endocrine diseases by NGS: novel scenarios and unpredictable results and risks
10.1530/eje-18-0379 · 2018 · External reference
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
10.1038/gim.2015.30 · 2015 · External reference
Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes
10.1002/humu.24416 · 2022 · External reference
Variant reclassification and clinical implications
10.1136/jmg-2023-109488 · 2024 · External reference
Clinical variant reclassification in hereditary disease genetic testing
10.1001/jamanetworkopen.2024.44526 · 2024 · External reference
Unresolved reference
External reference
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines
10.1002/humu.24088 · 2020 · External reference
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
10.1038/s41436-021-01139-4 · 2021 · External reference
ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American college of medical genetics and genomics (ACMG)
10.1016/j.gim.2025.101454 · 2025 · External reference
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
10.1038/gim.2013.73 · 2013 · External reference
Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes
10.1016/j.ebiom.2020.102732 · 2020 · External reference
Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis
10.1093/ejendo/lvaf044 · 2025 · External reference
Reassessment of genomic sequence variation to harmonize interpretation for personalized medicine
10.1016/j.ajhg.2016.09.015 · 2016 · External reference
Opportunistic genomic screening. Recommendations of the European society of human genetics
10.1038/s41431-020-00758-w · 2021 · External reference
Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations
10.1038/s41431-018-0224-1 · 2018 · External reference
Deutsche gesellschaft für humangenetik e.V. (GfH). 24102023 stellungnahme der deutschen gesellschaft für humangenetik zu zusatz- und zufallsbefunden in der genetischen diagnostik
10.1515/medgen-2023-2060 · 2023 · External reference
Beyond medically actionable results: an analytical pipeline for decreasing the burden of returning all clinically significant secondary findings
10.1007/s00439-020-02220-9 · 2021 · External reference
Informed consent in the genomics era
10.1101/cshperspect.a036582 · 2020 · External reference
Correspondence on “ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)” by Miller et al
10.1016/j.gim.2021.10.020 · 2022 · External reference
Stakeholder views on opportunistic genomic screening in The Netherlands: a qualitative study
10.1038/s41431-021-00828-7 · 2021 · External reference
Points to consider for informed consent for genome/exome sequencing
10.1038/gim.2013.94 · 2013 · External reference
A framework for reporting secondary and incidental findings in prenatal sequencing: when and for whom?
10.1002/pd.6097 · 2022 · External reference
SHBG gene polymorphisms and their influence on serum SHBG, total and free testosterone concentrations in men
10.1210/clinem/dgae280 · 2025 · External reference
Recommendations for reporting results of diagnostic genomic testing
10.1038/s41431-022-01091-0 · 2022 · External reference
EndoCompass project: research roadmap for growth disorders
10.1159/000549204 · 2025 · External reference
EndoCompass project: research roadmap for growth disorders
10.1093/ejendo/lvaf070 · 2025 · External reference
