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A Nuclear mtDNA Concatemer (Mega-NUMT) Could Mimic Paternal Inheritance of Mitochondrial Genome

Frontiers in genetics, 2019-06, Vol.10, p.518-518

2019

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Analysis of a conditional gene trap reveals that tbx5a is required for heart regeneration in zebrafish

PloS one, 2018-06, Vol.13 (6), p.e0197293-e0197293

2018

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Etv2 and fli1b function together as key regulators of vasculogenesis and angiogenesis

Arteriosclerosis, thrombosis, and vascular biology, 2015-04, Vol.35 (4), p.865

2015

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Targeted transgene integration overcomes variability of position effects in zebrafish

Development (Cambridge), 2014-02, Vol.141 (3), p.715-724

2014

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AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss

Genetics in medicine, 2018-12, Vol.20 (12), p.1600-1608

2018

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P482: Application of CRISPR-Cas9 and next-generation sequencing to resolve highly homologous genes in the human genome

Genetics in Medicine Open, 2023, Vol.1 (1), p.100529, Article 100529

2023

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P656: Resolving clinically relevant short read deficient homologous sequences using a novel CRISPR-CAS mediated targeted long read sequencing method

Genetics in Medicine Open, 2023, Vol.1 (1), p.100721, Article 100721

2023

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P714: Genome screening of newborns: Sequencing is easy, assessing the clinical utility of genomic findings uncovered in asymptomatic children is challenging

Genetics in Medicine Open, 2024, Vol.2, p.101618, Article 101618

2024

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P389: Real-world evidence demonstrating why genome sequencing should be recommended as the first-tier genetic test

Genetics in Medicine Open, 2023, Vol.1 (1), p.100425, Article 100425

2023

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P425: Unparalleled power of genome sequencing in screening ostensibly healthy newborns and children: Findings from the first real-world dataset

Genetics in Medicine Open, 2023, Vol.1 (1), p.100472, Article 100472

2023

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P426: Recognizing the promise and potential pitfalls of genomic medicine through routine rapid whole genome sequencing

Genetics in Medicine Open, 2023, Vol.1 (1), p.100473, Article 100473

2023

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Recurrent 10q22-q23 Deletions: A Genomic Disorder on 10q Associated with Cognitive and Behavioral Abnormalities

American journal of human genetics, 2007-05, Vol.80 (5), p.938-947

2007

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Mutagenesis Screen Identifies agtpbp1 and eps15L1 as Essential for T lymphocyte Development in Zebrafish

PloS one, 2015-07, Vol.10 (7), p.e0131908

2015

Volltextzugriff (PDF)

Next Generation Sequencing for the Diagnosis of Hereditary Hemolytic Anemias Including Pyruvate Kinase Deficiency: Report from a No-Cost Diagnostic Program

Blood, 2022-11, Vol.140 (Supplement 1), p.2436-2437

2022

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Zebrafish dnm1a gene plays a role in the formation of axons and synapses in the nervous tissue

Journal of neuroscience research, 2023-08, Vol.101 (8), p.1345-1359

2023

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Gene trapping using gal4 in zebrafish

Journal of visualized experiments, 2013-09 (79), p.e50113

2013

Volltextzugriff (PDF)

eP328: Establishing droplet digital PCR method for assessing mitochondrial DNA content in muscle

Genetics in medicine, 2022-03, Vol.24 (3), p.S205-S205

2022

Volltextzugriff (PDF)

Cancer cytogenetics in a genomics world: Wedding the old with the new

Blood reviews, 2024-07, Vol.66, p.101209, Article 101209

2024

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Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test

Genetics in medicine, 2024-01, Vol.26 (1), p.100995, Article 100995

2024

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Gene Trapping Using Gal4 in Zebrafish

Journal of visualized experiments, 2013-09 (79)

2013

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Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield

The Journal of pediatrics, 2023-11, Vol.262, p.113620-113620, Article 113620

2023

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Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin

Clinical chemistry (Baltimore, Md.), 2018-04, Vol.64 (4), p.705-714

2018

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Advanced approaches for comprehensive mtDNA testing of mitochondrial disorders

Molecular genetics and metabolism, 2021-04, Vol.132, p.S213

2021

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OP332 - Advanced approaches for comprehensive mtDNA testing of mitochondrial disorders

Molecular genetics and metabolism, 2021-04, Vol.132, p.S213-S213

2021

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The Development and Validation of Clinical Exome-Based Panels Using ExomeSlicer: Considerations and Proof of Concept Using an Epilepsy Panel

The Journal of molecular diagnostics : JMD, 2018-09, Vol.20 (5), p.643-652

2018

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A Nuclear mtDNA Concatemer (Mega-NUMT) Could Mimic Paternal Inheritance of Mitochondrial Genome

Analysis of a conditional gene trap reveals that tbx5a is required for heart regeneration in zebrafish

Etv2 and fli1b function together as key regulators of vasculogenesis and angiogenesis

Targeted transgene integration overcomes variability of position effects in zebrafish

AUDIOME: a tiered exome sequencing–based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss

P482: Application of CRISPR-Cas9 and next-generation sequencing to resolve highly homologous genes in the human genome

P656: Resolving clinically relevant short read deficient homologous sequences using a novel CRISPR-CAS mediated targeted long read sequencing method

P714: Genome screening of newborns: Sequencing is easy, assessing the clinical utility of genomic findings uncovered in asymptomatic children is challenging

P389: Real-world evidence demonstrating why genome sequencing should be recommended as the first-tier genetic test

P425: Unparalleled power of genome sequencing in screening ostensibly healthy newborns and children: Findings from the first real-world dataset

P426: Recognizing the promise and potential pitfalls of genomic medicine through routine rapid whole genome sequencing

Recurrent 10q22-q23 Deletions: A Genomic Disorder on 10q Associated with Cognitive and Behavioral Abnormalities

Mutagenesis Screen Identifies agtpbp1 and eps15L1 as Essential for T lymphocyte Development in Zebrafish

Next Generation Sequencing for the Diagnosis of Hereditary Hemolytic Anemias Including Pyruvate Kinase Deficiency: Report from a No-Cost Diagnostic Program

Zebrafish dnm1a gene plays a role in the formation of axons and synapses in the nervous tissue

Gene trapping using gal4 in zebrafish

eP328: Establishing droplet digital PCR method for assessing mitochondrial DNA content in muscle

Cancer cytogenetics in a genomics world: Wedding the old with the new

Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test

Gene Trapping Using Gal4 in Zebrafish

Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield

Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin

Advanced approaches for comprehensive mtDNA testing of mitochondrial disorders

OP332 - Advanced approaches for comprehensive mtDNA testing of mitochondrial disorders

The Development and Validation of Clinical Exome-Based Panels Using ExomeSlicer: Considerations and Proof of Concept Using an Epilepsy Panel

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