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Consumers' use of web-based information and their decisions about multiplex genetic susceptibility testing

Journal of medical Internet research, 2010-09, Vol.12 (3), p.e41-e41

2010

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ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure 2012: The Task Force for the Diagnosis and Treatment of Acute and Chronic Heart Failure 2012 of the European Society of Cardiology. Developed in collaboration with the Heart Failure Association (HFA) of the ESC

European heart journal, 2012-07, Vol.33 (14), p.1787-1847

2012

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Kinase inhibition profiles as a tool to identify kinases for specific phosphorylation sites

Nature communications, 2020-04, Vol.11 (1), p.1684-1684, Article 1684

2020

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Genetic screening of THAP1 in primary dystonia patients of India

Neuroscience letters, 2017-01, Vol.637, p.31-37

2017

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Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical Practice

Arquivos brasileiros de cardiologia, 2019-08, Vol.113 (2), p.274-281

2019

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Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel

Journal of the American College of Cardiology, 2018-08, Vol.72 (6), p.662-680

2018

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Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Nature genetics, 2019-03, Vol.51 (3), p.414-430

2019

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De novo variants in neurodevelopmental disorders with epilepsy

Nature genetics, 2018-07, Vol.50 (7), p.1048-1053

2018

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Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

Human mutation, 2018-11, Vol.39 (11), p.1517-1524

2018

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Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Genetics in medicine, 2019-11, Vol.21 (11), p.2413-2421

2019

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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Genetics in medicine, 2018-04, Vol.20 (4), p.435-443

2018

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PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

Nature genetics, 2019-11, Vol.51 (11), p.1560-1565

2019

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Developing and evaluating polygenic risk prediction models for stratified disease prevention

Nature reviews. Genetics, 2016-07, Vol.17 (7), p.392

2016

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Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

Human mutation, 2018-11, Vol.39 (11), p.1593-1613

2018

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Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

Nature genetics, 2018-10, Vol.50 (10), p.1412-1425

2018

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Clinical exome sequencing: results from 2819 samples reflecting 1000 families

European journal of human genetics : EJHG, 2017-02, Vol.25 (2), p.176-182

2017

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Genome-Scale CRISPR-Cas9 Knockout Screening in Human Cells

Science (American Association for the Advancement of Science), 2014-01, Vol.343 (6166), p.84-87

2014

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Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening

JAMA : the journal of the American Medical Association, 2016-08, Vol.316 (7), p.734

2016

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High-throughput functional genomics using CRISPR-Cas9

Nature reviews. Genetics, 2015-05, Vol.16 (5), p.299

2015

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Genomics of Acute Myeloid Leukemia Diagnosis and Pathways

Journal of clinical oncology, 2017-03, Vol.35 (9), p.934-946

2017

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Integrative analysis of pooled CRISPR genetic screens using MAGeCKFlute

Nature protocols, 2019-03, Vol.14 (3), p.756-780

2019

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Consumers' use of web-based information and their decisions about multiplex genetic susceptibility testing

ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure 2012: The Task Force for the Diagnosis and Treatment of Acute and Chronic Heart Failure 2012 of the European Society of Cardiology. Developed in collaboration with the Heart Failure Association (HFA) of the ESC

Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

Kinase inhibition profiles as a tool to identify kinases for specific phosphorylation sites

Genetic screening of THAP1 in primary dystonia patients of India

Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical Practice

Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

De novo variants in neurodevelopmental disorders with epilepsy

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

Evidence-Based Assessment of Genes in Dilated Cardiomyopathy

Developing and evaluating polygenic risk prediction models for stratified disease prevention

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

Genome-Scale CRISPR-Cas9 Knockout Screening in Human Cells

Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening

High-throughput functional genomics using CRISPR-Cas9

Genomics of Acute Myeloid Leukemia Diagnosis and Pathways

Integrative analysis of pooled CRISPR genetic screens using MAGeCKFlute

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