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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.865-876

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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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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Mice Mutant in the DM Domain Gene Dmrt4 Are Viable and Fertile but Have Polyovular Follicles

Molecular and Cellular Biology, 2006-12, Vol.26 (23), p.8984-8991

2006

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

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

2015

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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

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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

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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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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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Gene Trapping Using Gal4 in Zebrafish

Journal of visualized experiments, 2013-09 (79)

2013

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Chicken β-globin insulators fail to shield the nkx2.5 promoter from integration site effects in zebrafish

Molecular genetics and genomics : MGG, 2013-12, Vol.288 (12), p.717-725

2013

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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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The Development and Validation of Clinical Exome-Based Panels Using ExomeSlicer

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

2018

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Automated Clinical Exome Reanalysis Reveals Novel Diagnoses

The Journal of molecular diagnostics : JMD, 2019-01, Vol.21 (1), p.38-48

2019

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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

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

Mice Mutant in the DM Domain Gene Dmrt4 Are Viable and Fertile but Have Polyovular Follicles

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

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

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

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

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

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

Gene Trapping Using Gal4 in Zebrafish

Chicken β-globin insulators fail to shield the nkx2.5 promoter from integration site effects in zebrafish

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

The Development and Validation of Clinical Exome-Based Panels Using ExomeSlicer

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses

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