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Detailed analysis of HTT repeat elements in human blood using targeted amplification‐free long‐read sequencing

Human mutation, 2018-09, Vol.39 (9), p.1262-1272

2018

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Detection of multiple types of cancer driver mutations using targeted RNA sequencing in non–small cell lung cancer

Cancer, 2023-08, Vol.129 (15), p.2422-2430

2023

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Targeted long-read sequencing identifies missing disease-causing variation

American journal of human genetics, 2021-08, Vol.108 (8), p.1436-1449

2021

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A new amplicon‐based gene panel for next generation sequencing characterization of meningiomas

Brain pathology (Zurich, Switzerland), 2022-03, Vol.32 (2), p.e13046-n/a

2022

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Two‐phase sample selection strategies for design and analysis in post‐genome‐wide association fine‐mapping studies

Statistics in medicine, 2021-12, Vol.40 (30), p.6792-6817

2021

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Genes and mutations causing retinitis pigmentosa

Clinical genetics, 2013-08, Vol.84 (2), p.132-141

2013

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Differences in the skin microbial community between patients with active and stable vitiligo based on 16S rRNA gene sequencing

Australasian journal of dermatology, 2021-11, Vol.62 (4), p.e516-e523

2021

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Custom Next‐Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys

Molecular genetics & genomic medicine, 2022-02, Vol.10 (2), p.e1868-n/a

2022

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Klinische Anwendungsbeispiele einer Next-Generation-Sequencing-basierten Multi-Genpanel-Analyse

Deutsche medizinische Wochenschrift, 2023-05, Vol.148 (11), p.695-702

2023

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Next-generation sequencing and its application in diagnosis of retinitis pigmentosa

Ophthalmic genetics, 2019-09, Vol.40 (5), p.393-402

2019

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Exome and genome sequencing for inborn errors of immunity

Journal of allergy and clinical immunology, 2016-10, Vol.138 (4), p.957-969

2016

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Klinische Anwendungsbeispiele einer Next-Generation-Sequencing-basierten Multi-Genpanel-Analyse

TumorDiagnostik & Therapie, 2023-07, Vol.44 (6), p.401-408

2023

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Xdrop: Targeted sequencing of long DNA molecules from low input samples using droplet sorting

Human mutation, 2020-09, Vol.41 (9), p.1671-1679

2020

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Characterization of a Novel 71.8 kb α0-Thalassemia Deletion and Subsequent Summary of a Practical Procedure for Thalassemia Molecular Diagnosis

Hemoglobin, 2020-07, Vol.44 (4), p.259-263

2020

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High-resolution microbiome analysis enabled by linking of 16S rRNA gene sequences with adjacent genomic contexts

Microbial genomics, 2021-09, Vol.7 (9)

2021

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The power of hybridization capture: llustrated using an expanded gene panel on 100 post mortem samples, focusing on sudden unexplained death

Forensic science international : genetics, 2025, Vol.74

2025

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The application of nanopore targeted sequencing for pathogen diagnosis in bronchoalveolar lavage fluid of patients with pneumonia: a prospective multicenter study

Infectious diseases (London, England), 2024-02, Vol.56 (2), p.128-137

2024

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Nanopore sequencing and its application to the study of microbial communities

Computational and structural biotechnology journal, 2021-01, Vol.19, p.1497-1511

2021

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Genetic analyses of isolated high‐grade pancreatic intraepithelial neoplasia (HG‐PanIN) reveal paucity of alterations in TP53 and SMAD4

The Journal of pathology, 2017-05, Vol.242 (1), p.16-23

2017

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Linkage Disequilibrium in Targeted Sequencing

Matematicheskai︠a︡ biologii︠a︡ i bioinformatika = Mathematical biology and bioinformatics, 2022-11, Vol.17 (2), p.325-337

2022

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Evaluation of clinical formalin‐fixed paraffin‐embedded tissue quality for targeted‐bisulfite sequencing

Pathology international, 2021-02, Vol.71 (2), p.135-140

2021

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Application of Next Generation Sequencing for Diagnosis and Clinical Management of Drug-Resistant Tuberculosis: Updates on Recent Developments in the Field

Frontiers in microbiology, 2022-03, Vol.13, p.775030-775030

2022

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RET , NTRK , ALK , BRAF , and MET Fusions in a Large Cohort of Pediatric Papillary Thyroid Carcinomas

Thyroid (New York, N.Y.), 2020-12, Vol.30 (12), p.1771-1780

2020

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A new classification of Carex (Cyperaceae) subgenera supported by a HybSeq backbone phylogenetic tree

Botanical journal of the Linnean Society, 2020-10, Vol.194 (2), p.141-163

2020

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Lung neuroendocrine tumours: deep sequencing of the four World Health Organization histotypes reveals chromatin‐remodelling genes as major players and a prognostic role for TERT, RB1, MEN1 and KMT2D

The Journal of pathology, 2017-03, Vol.241 (4), p.488-500

2017

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Detailed analysis of HTT repeat elements in human blood using targeted amplification‐free long‐read sequencing

Detection of multiple types of cancer driver mutations using targeted RNA sequencing in non–small cell lung cancer

Targeted long-read sequencing identifies missing disease-causing variation

A new amplicon‐based gene panel for next generation sequencing characterization of meningiomas

Two‐phase sample selection strategies for design and analysis in post‐genome‐wide association fine‐mapping studies

Genes and mutations causing retinitis pigmentosa

Differences in the skin microbial community between patients with active and stable vitiligo based on 16S rRNA gene sequencing

Custom Next‐Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys

Klinische Anwendungsbeispiele einer Next-Generation-Sequencing-basierten Multi-Genpanel-Analyse

Next-generation sequencing and its application in diagnosis of retinitis pigmentosa

Exome and genome sequencing for inborn errors of immunity

Klinische Anwendungsbeispiele einer Next-Generation-Sequencing-basierten Multi-Genpanel-Analyse

Xdrop: Targeted sequencing of long DNA molecules from low input samples using droplet sorting

Characterization of a Novel 71.8 kb α0-Thalassemia Deletion and Subsequent Summary of a Practical Procedure for Thalassemia Molecular Diagnosis

High-resolution microbiome analysis enabled by linking of 16S rRNA gene sequences with adjacent genomic contexts

The power of hybridization capture: llustrated using an expanded gene panel on 100 post mortem samples, focusing on sudden unexplained death

The application of nanopore targeted sequencing for pathogen diagnosis in bronchoalveolar lavage fluid of patients with pneumonia: a prospective multicenter study

Nanopore sequencing and its application to the study of microbial communities

Genetic analyses of isolated high‐grade pancreatic intraepithelial neoplasia (HG‐PanIN) reveal paucity of alterations in TP53 and SMAD4

Linkage Disequilibrium in Targeted Sequencing

Evaluation of clinical formalin‐fixed paraffin‐embedded tissue quality for targeted‐bisulfite sequencing

Application of Next Generation Sequencing for Diagnosis and Clinical Management of Drug-Resistant Tuberculosis: Updates on Recent Developments in the Field

RET , NTRK , ALK , BRAF , and MET Fusions in a Large Cohort of Pediatric Papillary Thyroid Carcinomas

A new classification of Carex (Cyperaceae) subgenera supported by a HybSeq backbone phylogenetic tree

Lung neuroendocrine tumours: deep sequencing of the four World Health Organization histotypes reveals chromatin‐remodelling genes as major players and a prognostic role for TERT, RB1, MEN1 and KMT2D

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