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Comment on Australian public perspectives on genomic data governance by Lynch et al. in the EJHG

European journal of human genetics : EJHG, 2024-03, Vol.32 (3), p.251-252

2024

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Integrated genomic characterization reveals novel, therapeutically relevant drug targets in FGFR and EGFR pathways in sporadic intrahepatic cholangiocarcinoma

PLoS genetics, 2014-02, Vol.10 (2), p.e1004135-e1004135

2014

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Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

American journal of human genetics, 2018-04, Vol.102 (4), p.696-705

2018

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HELLO: improved neural network architectures and methodologies for small variant calling

BMC bioinformatics, 2021-08, Vol.22 (1), p.404-31, Article 404

2021

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LeafCutterMD: an algorithm for outlier splicing detection in rare diseases

Bioinformatics, 2020-11, Vol.36 (17), p.4609-4615

2020

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Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy

Frontiers in genetics, 2019-08, Vol.10, p.736-736

2019

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Global Methylation Profiling for Risk Prediction of Prostate Cancer

Clinical cancer research, 2012-05, Vol.18 (10), p.2882-2895

2012

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3' tag digital gene expression profiling of human brain and universal reference RNA using Illumina Genome Analyzer

BMC genomics, 2009-11, Vol.10 (1), p.531-531, Article 531

2009

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Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing

The Journal of molecular diagnostics : JMD, 2015-07, Vol.17 (4), p.456-461

2015

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A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease

PloS one, 2019-10, Vol.14 (10), p.e0223337-e0223337

2019

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Recommendations for performance optimizations when using GATK3.8 and GATK4

BMC bioinformatics, 2019-11, Vol.20 (1), p.557-557, Article 557

2019

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Computational Detection of Known Pathogenic Gene Fusions in a Normal Tissue Database and Implications for Genetic Disease Research

Frontiers in genetics, 2020-02, Vol.11, p.173-173

2020

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Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease

BMC genomics, 2024-04, Vol.25 (1), p.371-371, Article 371

2024

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COVID-19 Mortality Prediction From Deep Learning in a Large Multistate Electronic Health Record and Laboratory Information System Data Set: Algorithm Development and Validation

Journal of medical Internet research, 2021-09, Vol.23 (9), p.e30157-e30157

2021

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De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability

American journal of medical genetics. Part A, 2019-04, Vol.179 (4), p.570-578

2019

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Editorial: Clinical Genome Sequencing: Bioinformatics Challenges and Key Considerations

Frontiers in genetics, 2022-03, Vol.13, p.896032-896032

2022

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Next Generation Sequencing of Sporadic Vestibular Schwannoma: Necessity of Biallelic NF2 Inactivation and Implications of Accessory Non-NF2 Variants

Otology & neurotology, 2018-10, Vol.39 (9), p.e860-e871

2018

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Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation

eLife, 2022-06, Vol.11

2022

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Design considerations for workflow management systems use in production genomics research and the clinic

Scientific reports, 2021-11, Vol.11 (1), p.21680-18, Article 21680

2021

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Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing

PloS one, 2017-02, Vol.12 (2), p.e0170822-e0170822

2017

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Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report

BMC medical genetics, 2020-11, Vol.21 (1), p.219-219, Article 219

2020

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LPCAT1-TERT fusions are uniquely recurrent in epithelioid trophoblastic tumors and positively regulate cell growth

PloS one, 2021-05, Vol.16 (5), p.e0250518-e0250518

2021

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Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases

Orphanet journal of rare diseases, 2024-05, Vol.19 (1), p.216-216, Article 216

2024

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SPECC1L regulates palate development downstream of IRF6

Human molecular genetics, 2020-03, Vol.29 (5), p.845-858

2020

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Larval zebrafish model for FDA-approved drug repositioning for tobacco dependence treatment

PloS one, 2014-03, Vol.9 (3), p.e90467

2014

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Comment on Australian public perspectives on genomic data governance by Lynch et al. in the EJHG

Integrated genomic characterization reveals novel, therapeutically relevant drug targets in FGFR and EGFR pathways in sporadic intrahepatic cholangiocarcinoma

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

HELLO: improved neural network architectures and methodologies for small variant calling

LeafCutterMD: an algorithm for outlier splicing detection in rare diseases

Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy

Global Methylation Profiling for Risk Prediction of Prostate Cancer

3' tag digital gene expression profiling of human brain and universal reference RNA using Illumina Genome Analyzer

Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing

A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease

Recommendations for performance optimizations when using GATK3.8 and GATK4

Computational Detection of Known Pathogenic Gene Fusions in a Normal Tissue Database and Implications for Genetic Disease Research

Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease

COVID-19 Mortality Prediction From Deep Learning in a Large Multistate Electronic Health Record and Laboratory Information System Data Set: Algorithm Development and Validation

De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability

Editorial: Clinical Genome Sequencing: Bioinformatics Challenges and Key Considerations

Next Generation Sequencing of Sporadic Vestibular Schwannoma: Necessity of Biallelic NF2 Inactivation and Implications of Accessory Non-NF2 Variants

Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation

Design considerations for workflow management systems use in production genomics research and the clinic

Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing

Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report

LPCAT1-TERT fusions are uniquely recurrent in epithelioid trophoblastic tumors and positively regulate cell growth

Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases

SPECC1L regulates palate development downstream of IRF6

Larval zebrafish model for FDA-approved drug repositioning for tobacco dependence treatment

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