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Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes

International journal of molecular sciences, 2020-03, Vol.21 (7), p.2308

2020

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Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies

Clinical genetics, 2020-02, Vol.97 (2), p.235-245

2020

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Clinical sequencing: is WGS the better WES?

Human genetics, 2016-03, Vol.135 (3), p.359-362

2016

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Precise breakpoint localization of large genomic deletions using PacBio and Illumina next-generation sequencers

BioTechniques, 2013-02, Vol.54 (2), p.98-100

2013

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Potential of whole-genome sequencing-based pharmacogenetic profiling

Pharmacogenomics, 2021-02, Vol.22 (3), p.177-190

2021

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New insights into the performance of human whole-exome capture platforms

Nucleic acids research, 2015-06, Vol.43 (11), p.e76-e76

2015

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Novel Insights into the Aortic Mechanical Properties of Mice Modeling Hereditary Aortic Diseases

Thrombosis and haemostasis, 2024-07

2024

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Front Cover

Clinical genetics, 2020-02, Vol.97 (2)

2020

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Celiprolol but not losartan improves the biomechanical integrity of the aorta in a mouse model of vascular Ehlers–Danlos syndrome

Cardiovascular research, 2020-02, Vol.116 (2), p.457-465

2020

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Need for speed in accurate whole-genome data analysis: GENALICE MAP challenges BWA/GATK more than PEMapper/PECaller and Isaac

Proceedings of the National Academy of Sciences - PNAS, 2017-10, Vol.114 (40), p.E8320-E8322

2017

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Vascular Ehlers–Danlos syndrome: can the beneficial effect of celiprolol be extrapolated to bisoprolol?

European heart journal. Cardiovascular pharmacotherapy, 2020-07, Vol.6 (3), p.199-200

2020

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A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias

Scandinavian journal of clinical and laboratory investigation, 2019-07, Vol.79 (5), p.305-313

2019

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Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era

Journal of thoracic disease, 2018-04, Vol.10 (4), p.2456-2460

2018

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Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency

European journal of human genetics : EJHG, 2010-12, Vol.18 (12), p.1315-1321

2010

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Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies

Clinical sequencing: is WGS the better WES?

Precise breakpoint localization of large genomic deletions using PacBio and Illumina next-generation sequencers

Potential of whole-genome sequencing-based pharmacogenetic profiling

New insights into the performance of human whole-exome capture platforms

Novel Insights into the Aortic Mechanical Properties of Mice Modeling Hereditary Aortic Diseases

Front Cover

Celiprolol but not losartan improves the biomechanical integrity of the aorta in a mouse model of vascular Ehlers–Danlos syndrome

Need for speed in accurate whole-genome data analysis: GENALICE MAP challenges BWA/GATK more than PEMapper/PECaller and Isaac

Vascular Ehlers–Danlos syndrome: can the beneficial effect of celiprolol be extrapolated to bisoprolol?

A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias

Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency

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