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Nonacus Customer Publications

Nonacus Customer Publications

Oncology

P-113 Evidence for early detection of metastatic variants and tumour evolution in ctDNA of patients with oesophageal adenocarcinoma

Coincidence of primary adrenocortical carcinoma and melanoma: three CASE reports

An Association Study of Germline Variants in Bladder Cancer-Related Genes with the Prognosis of Non-Muscle Invasive Bladder Cancer

An internal pilot study of a novel rectal mucocellular sampling device to allow next-generation sequencing for colorectal disease

Properties of non-coding mutation hotspots as urinary biomarkers for bladder cancer detection

A Novel Bead-Capture Nanopore Sequencing Method for Large Structural Rearrangement Detection in Cancer

Circulating tumour DNA sequencing to determine therapeutic response and identify tumour heterogeneity in patients with paediatric solid tumours

Circulating Cell-Free DNA Captures the Intratumor Heterogeneity in Multinodular Hepatocellular Carcinoma

Development of methylation-based biomarkers for breast cancer detection by model training and validation in synthetic cell-free DNA

Highly Sensitive and Specific Detection of Bladder Cancer via Targeted Ultra-deep Sequencing of Urinary DNA

Sensitive screening of single nucleotide polymorphisms in cell free DNA for diagnosis of gestational tumours

Whole-genome sequencing of single circulating tumor cells from neuroendocrine neoplasms

Circulating cell-free DNA for prognostication and disease surveillance in adrenocortical carcinoma

Urine DNA for monitoring chemoradiotherapy response in muscle-invasive bladder cancer: a pilot study

Droplet digital PCR-based detection of circulating tumor DNA from pediatric high grade and diffuse midline glioma patients

Utility of circulating tumor DNA for detection and monitoring of endometrial cancer recurrence and progression

Targeted deep sequencing of urothelial bladder cancers and associated urinary DNA: a 23-gene panel with utility for non-invasive diagnosis and risk stratification

Applications and analysis of targeted genomic sequencing in cancer studies

PF513 mutations affecting the CREBBP hat domain predict response to MTOR inhibitors Everolimus and Temsirolimus in relapsed/refractory follicular lymphoma

Enhanced CAR T cell expansion and prolonged persistence in pediatric patients with ALL treated with a low-affinity CD19 CAR

Properties of non-coding mutation hotspots as urinary biomarkers for bladder cancer detection

Performance of DNA-based biomarkers for classification of adrenocortical carcinoma: a prognostic study

PB2000 A comprehensive NGS panel approach for clinical genomic analysis in haematological malignancy

Baseline mutations and ctDNA dynamics as prognostic and predictive factors in ER-positive/HER2-negative metastatic breast cancer patients

Minimal Residual Disease Monitoring in Radically Treated Non-Small Cell Lung Cancer: Challenges and Future Directions

726P Circulating cell-free DNA-based biomarkers as a new tool for prognosis and surveillance of adrenocortical carcinoma

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Prenatal

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome

Diagnosing Camurati–Engelmann disease—the age of whole-exome sequencing

Should we offer prenatal exome sequencing for intrauterine growth restriction or short long bones? A systematic review and meta-analysis

Prenatal exome sequencing and impact on perinatal outcome: cohort study

Prenatal diagnosis of PERCHING syndrome caused by homozygous loss of function variant in the KLHL7 gene

A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism—Case Report

Exome analysis of prenatal and postnatal cases referred with skeletal dysplasia-overview of phenotypic and genomic and findings

Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency

Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study

A novel non-invasive prenatal sickle cell disease test for all at-risk pregnancies

Non-invasive prenatal diagnosis of retinoblastoma inheritance by combined targeted sequencing strategies

A report on the impact of rapid prenatal exome sequencing on the clinical management of 52 ongoing pregnancies: a retrospective review

Noninvasive fetal RHD genotyping to guide targeted anti-D prophylaxis–an external quality assessment workshop

Maternally inherited autosomal dominant PLAG-1 related Silver Russell syndrome in a fetus with intra-uterine growth restriction

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Constitutional Genetics

Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants

Cardiovascular disease biomarkers derived from circulating cell-free DNA methylation

Improving Hereditary Hemorrhagic Telangiectasia Molecular Diagnosis: A Referral Center Experience

A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness

Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita

Exome sequencing reveals a high proportion of causal and candidate gene variants in a large early-onset Primary Ovarian Insufficiency cohort

Next-generation sequencing reveals novel genetic variants (SRY, DMRT1, NR5A1, DHH, DHX37) in adults with 46,XY DSD

An integral approach to the molecular diagnosis of tuberous sclerosis complex: the role of mosaicism and splicing variants

Analysis of genetic variability in Turner syndrome linked to long-term clinical features

NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital

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