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Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis

PloS one, 2021-09, Vol.16 (9), p.e0255933-e0255933

2021

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Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure

PloS one, 2018-09, Vol.13 (9), p.e0203422-e0203422

2018

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Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy

Scientific reports, 2019-03, Vol.9 (1), p.4093, Article 4093

2019

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Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy

PloS one, 2021-02, Vol.16 (2), p.e0245681-e0245681

2021

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Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

BMC cardiovascular disorders, 2021-03, Vol.21 (1), p.126-126, Article 126

2021

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DSP p.(Thr2104Glnfs12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy

BMC medical genetics, 2020-01, Vol.21 (1), p.19-19, Article 19

2020

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GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy

Frontiers in genetics, 2021-11, Vol.12, p.786705-786705

2021

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Specificity, selection and significance of gene amplifications in cancer

Seminars in cancer biology, 2007-02, Vol.17 (1), p.42-55

2007

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P622: Genetic results in a cohort of 489 patients with inherited myopathies

Genetics in Medicine Open, 2024, Vol.2, p.101528, Article 101528

2024

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P626: Clinical utility of structural variant calling using breakpoint analysis method for targeted NGS gene panels

Genetics in Medicine Open, 2024, Vol.2, p.101532, Article 101532

2024

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Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2

BMC medical genetics, 2017-08, Vol.18 (1), p.86-86, Article 86

2017

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P577: Genetic findings in afor cohort of over 1,800 patients tested with a combined cardiomyopathy and arrhythmia panel

Genetics in Medicine Open, 2024, Vol.2, p.101483, Article 101483

2024

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Monogenic gene variants in lung transplant recipients with usual interstitial pneumonia

ERJ open research, 2022-01, Vol.8 (1), p.583

2022

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P554: A case series of 17 patients with VEXAS syndrome due to UBA1 Met41 variants

Genetics in Medicine Open, 2023, Vol.1 (1), p.100601, Article 100601

2023

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Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients

Frontiers in cardiovascular medicine, 2023-09, Vol.10, p.1254272-1254272

2023

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P487: Genetic findings from multi-gene panel for primary ciliary dyskinesia

Genetics in Medicine Open, 2023, Vol.1 (1), p.100534, Article 100534

2023

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P465: The occurrence of noncoding variants, copy number variants and variants in difficult-to-sequence genes in over 10,000 whole exome sequencing tests

Genetics in Medicine Open, 2023, Vol.1 (1), p.100512, Article 100512

2023

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Integrated gene copy number and expression microarray analysis of gastric cancer highlights potential target genes

International journal of cancer, 2008-08, Vol.123 (4), p.817-825

2008

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Bayesian clustering and feature selection for cancer tissue samples

BMC bioinformatics, 2009-03, Vol.10 (90), p.90-90, Article 90

2009

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Targeted sequencing library preparation by genomic DNA circularization

BMC biotechnology, 2011-12, Vol.11 (1), p.122-122, Article 122

2011

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Targeted deep resequencing of the human cancer genome using next-generation technologies

Biotechnology & genetic engineering reviews, 2010-01, Vol.27 (1), p.135-158

2010

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Classification of human cancers based on DNA copy number amplification modeling

BMC medical genomics, 2008-05, Vol.1 (1), p.15-15, Article 15

2008

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Genetic Findings from a Multigene Panel for Autoinflammatory Disease

Clinical immunology (Orlando, Fla.), 2023-05, Vol.250, p.109395, Article 109395

2023

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Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy

European heart journal, 2015-09, Vol.36 (34), p.2327-2337

2015

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Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2

PloS one, 2021-09, Vol.16 (9), p.e0255933

2021

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Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis

Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure

Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy

Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

DSP p.(Thr2104Glnfs12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy

GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy

Specificity, selection and significance of gene amplifications in cancer

P622: Genetic results in a cohort of 489 patients with inherited myopathies

P626: Clinical utility of structural variant calling using breakpoint analysis method for targeted NGS gene panels

Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2

P577: Genetic findings in afor cohort of over 1,800 patients tested with a combined cardiomyopathy and arrhythmia panel

Monogenic gene variants in lung transplant recipients with usual interstitial pneumonia

P554: A case series of 17 patients with VEXAS syndrome due to UBA1 Met41 variants

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients

P487: Genetic findings from multi-gene panel for primary ciliary dyskinesia

P465: The occurrence of noncoding variants, copy number variants and variants in difficult-to-sequence genes in over 10,000 whole exome sequencing tests

Integrated gene copy number and expression microarray analysis of gastric cancer highlights potential target genes

Bayesian clustering and feature selection for cancer tissue samples

Targeted sequencing library preparation by genomic DNA circularization

Targeted deep resequencing of the human cancer genome using next-generation technologies

Classification of human cancers based on DNA copy number amplification modeling

Genetic Findings from a Multigene Panel for Autoinflammatory Disease

Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2

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