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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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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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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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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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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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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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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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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

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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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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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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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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

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

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

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

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

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

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

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

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

Gene Trapping Using Gal4 in Zebrafish

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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