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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels

PloS one, 2017-02, Vol.12 (2), p.e0170843-e0170843

2017

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification

Scientific reports, 2019-09, Vol.9 (1), p.12752-6, Article 12752

2019

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Sanger Confirmation Is Required to Achieve Optimal Sensitivity and Specificity in Next-Generation Sequencing Panel Testing

The Journal of molecular diagnostics : JMD, 2016-11, Vol.18 (6), p.923-932

2016

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Validation of a prostate cancer polygenic risk score

The Prostate, 2020-11, Vol.80 (15), p.1314-1321

2020

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Inherited cancer predisposing mutations in patients with therapy‐related myeloid neoplasms

British journal of haematology, 2023-02, Vol.200 (4), p.489-493

2023

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Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing

Genetics in medicine, 2019-07, Vol.21 (7), p.1603-1610

2019

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The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay

PloS one, 2014-05, Vol.9 (5), p.e97408-e97408

2014

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ELP2 is a novel gene implicated in neurodevelopmental disabilities

American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1391-1395

2015

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Probability landscape of heritable and robust epigenetic state of lysogeny in phage lambda

Proceedings of the National Academy of Sciences - PNAS, 2010-10, Vol.107 (43), p.18445-18450

2010

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Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity

Journal of medical genetics, 2020-01, Vol.57 (1), p.62-69

2020

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A Bayesian framework for efficient and accurate variant prediction

PloS one, 2018-09, Vol.13 (9), p.e0203553-e0203553

2018

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A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia

Annals of neurology, 2016-10, Vol.80 (4), p.na-n/a

2016

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Serial changes in liquid biopsy-derived variant allele frequency predict immune checkpoint inhibitor responsiveness in the pan-cancer setting

Oncoimmunology, 2022-12, Vol.11 (1), p.2052410-2052410

2022

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Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities

BMC medical genetics, 2015-11, Vol.16 (1), p.102-102, Article 102

2015

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Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay

Frontiers in oncology, 2018-07, Vol.8, p.286-286

2018

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Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

Genetics in medicine, 2015-07, Vol.17 (7), p.578-586

2015

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Perturbation-based Markovian transmission model for probing allosteric dynamics of large macromolecular assembling: a study of GroEL-GroES

PLoS computational biology, 2009-10, Vol.5 (10), p.e1000526-e1000526

2009

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Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing

JAMA oncology, 2019-01, Vol.5 (1), p.51

2019

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A model study of protein nascent chain and cotranslational folding using hydrophobic-polar residues

Proteins, structure, function, and bioinformatics, 2008-02, Vol.70 (2), p.442-449

2008

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Comprehensive Paired Tumor/Germline Testing for Lynch Syndrome: Bringing Resolution to the Diagnostic Process

Journal of clinical oncology, 2019-03, Vol.37 (8), p.647-657

2019

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Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Genetics in medicine, 2017-02, Vol.19 (2), p.224-235

2017

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Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis

Neurology, 2014-04, Vol.82 (15), p.1322-1330

2014

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Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

European journal of human genetics : EJHG, 2016-12, Vol.24 (12), p.1761-1770

2016

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Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

NPJ precision oncology, 2020-02, Vol.4 (1), p.4-4, Article 4

2020

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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification

Sanger Confirmation Is Required to Achieve Optimal Sensitivity and Specificity in Next-Generation Sequencing Panel Testing

Validation of a prostate cancer polygenic risk score

Inherited cancer predisposing mutations in patients with therapy‐related myeloid neoplasms

Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing

The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay

ELP2 is a novel gene implicated in neurodevelopmental disabilities

Probability landscape of heritable and robust epigenetic state of lysogeny in phage lambda

Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity

A Bayesian framework for efficient and accurate variant prediction

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia

Serial changes in liquid biopsy-derived variant allele frequency predict immune checkpoint inhibitor responsiveness in the pan-cancer setting

Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities

Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

Perturbation-based Markovian transmission model for probing allosteric dynamics of large macromolecular assembling: a study of GroEL-GroES

Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing

A model study of protein nascent chain and cotranslational folding using hydrophobic-polar residues

Comprehensive Paired Tumor/Germline Testing for Lynch Syndrome: Bringing Resolution to the Diagnostic Process

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis

TumorNext-Lynch-MMR: a comprehensive next generation sequencing assay for the detection of germline and somatic mutations in genes associated with mismatch repair deficiency and Lynch syndrome

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

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