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Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects

Human mutation, 2015-12, Vol.36 (12), p.1113-1127

2015

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Effective variant filtering and expected candidate variant yield in studies of rare human disease

Npj genomic medicine, 2021-07, Vol.6 (1), p.60-60, Article 60

2021

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Algorithmic improvements for discovery of germline copy number variants in next-generation sequencing data

BMC bioinformatics, 2022-07, Vol.23 (1), p.285-285, Article 285

2022

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The Factor V Leiden variant and risk of chronic thromboembolic pulmonary hypertension

The European respiratory journal, 2020-10, Vol.56 (4), p.2000774

2020

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EIF2AK4 Mutations in Pulmonary Capillary Hemangiomatosis

Chest, 2014-02, Vol.145 (2), p.231-236

2014

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EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension

Chest, 2017-04, Vol.151 (4), p.821-828

2017

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Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients

Journal of medical genetics, 2011-05, Vol.48 (5), p.358-360

2011

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P579: Towards developing a comprehensive workflow for the identification of structural variants using clinical whole-genome sequencing

Genetics in Medicine Open, 2024, Vol.2, p.101485, Article 101485

2024

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Genotype-Phenotype Correlations of Glucose-6-Phosphate-Deficient Variants Throughout an Activity Distribution

The journal of applied laboratory medicine, 2018-05, Vol.2 (6), p.841-850

2018

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Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program

Journal of clinical and translational science, 2021, Vol.5 (1), p.e177-e177, Article e177

2021

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P542: Overcoming polymer-induced variation in fragile X and Huntington disease repeat expansion assays

Genetics in Medicine Open, 2023, Vol.1 (1), p.100589, Article 100589

2023

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P202: Effectiveness of universal, first-tier genome sequencing for critically ill infants on extracorporeal membrane oxygenation

Genetics in Medicine Open, 2024, Vol.2, p.101099, Article 101099

2024

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Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants

Children (Basel), 2023-06, Vol.10 (6), p.991

2023

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Exogenous expression of synaptotagmin XIII suppresses the neoplastic phenotype of a rat liver tumor cell line through molecular pathways related to mesenchymal to epithelial transition

Experimental and molecular pathology, 2010-12, Vol.89 (3), p.209-216

2010

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Bile duct destruction by 4,4′‐diaminodiphenylmethane does not block the small hepatocyte‐like progenitor cell response in retrorsine‐exposed rats

Hepatology (Baltimore, Md.), 2007-11, Vol.46 (5), p.1611-1619

2007

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When to Offer Genetic Testing for Pulmonary Arterial Hypertension

Canadian journal of cardiology, 2015-04, Vol.31 (4), p.544-547

2015

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Cells of origin of small hepatocyte-like progenitor cells in the retrorsine model of rat liver injury and regeneration

Journal of hepatology, 2008-02, Vol.48 (2), p.369-371

2008

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P243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care

Genetics in Medicine Open, 2023, Vol.1 (1), p.100271, Article 100271

2023

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Infantile pulmonary capillary haemangiomatosis: a lethal form of pulmonary hypertension

Cardiology in the young, 2016-04, Vol.26 (4), p.663-668

2016

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Noncontinuously Binding Loop-Out Primers for Avoiding Problematic DNA Sequences in PCR and Sanger Sequencing

The Journal of molecular diagnostics : JMD, 2014-09, Vol.16 (5), p.477-480

2014

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Cytokine-dependent activation of small hepatocyte-like progenitor cells in retrorsine-induced rat liver injury

Experimental and molecular pathology, 2010-02, Vol.88 (1), p.7-14

2010

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Pulmonary veno-occlusive disease: Two children with gradual disease progression

Respiratory medicine case reports, 2017-01, Vol.20 (C), p.82-86

2017

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Genetics of pulmonary hypertension

Current opinion in cardiology, 2014-11, Vol.29 (6), p.520-527

2014

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Genetics as a Job Generator

Cell, 2019-03, Vol.177 (1), p.24-25

2019

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Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects

Effective variant filtering and expected candidate variant yield in studies of rare human disease

Algorithmic improvements for discovery of germline copy number variants in next-generation sequencing data

The Factor V Leiden variant and risk of chronic thromboembolic pulmonary hypertension

EIF2AK4 Mutations in Pulmonary Capillary Hemangiomatosis

EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension

Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients

P579: Towards developing a comprehensive workflow for the identification of structural variants using clinical whole-genome sequencing

Genotype-Phenotype Correlations of Glucose-6-Phosphate-Deficient Variants Throughout an Activity Distribution

Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program

P542: Overcoming polymer-induced variation in fragile X and Huntington disease repeat expansion assays

P202: Effectiveness of universal, first-tier genome sequencing for critically ill infants on extracorporeal membrane oxygenation

Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants

Exogenous expression of synaptotagmin XIII suppresses the neoplastic phenotype of a rat liver tumor cell line through molecular pathways related to mesenchymal to epithelial transition

Bile duct destruction by 4,4′‐diaminodiphenylmethane does not block the small hepatocyte‐like progenitor cell response in retrorsine‐exposed rats

When to Offer Genetic Testing for Pulmonary Arterial Hypertension

Cells of origin of small hepatocyte-like progenitor cells in the retrorsine model of rat liver injury and regeneration

P243: The Utah NeoSeq Project: Developing and implementing genomic sequencing in acute neonatal care

P516: RNASeq analysis identifies the pathogenicity of inherited synonymous splice-region variant in NEB, confirming a diagnosis of neonatal nemaline myopathy 2

Infantile pulmonary capillary haemangiomatosis: a lethal form of pulmonary hypertension

Noncontinuously Binding Loop-Out Primers for Avoiding Problematic DNA Sequences in PCR and Sanger Sequencing

Cytokine-dependent activation of small hepatocyte-like progenitor cells in retrorsine-induced rat liver injury

Pulmonary veno-occlusive disease: Two children with gradual disease progression

Genetics of pulmonary hypertension

Genetics as a Job Generator

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