WES/WGS Reporting of Mutations from Cardiovascular “Actionable” Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

(2016) David Salgado et al.   HUMAN MUTATION

BRCA Share: A Collection of Clinical BRCA Gene Variants

(2016) Christophe Béroud et al.   HUMAN MUTATION

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

(2015) Mine Arslan-Kirchner et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Sequencing the head and neck cancer genome: implications for therapy

(2014) Wenyue Sun et al.   Annals of the New York Academy of Sciences

New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome

(2014) Ren-Qiang Yang et al.   BMC GENETICS

2014 ESC Guidelines on the diagnosis and treatment of aortic diseases

(2014)   EUROPEAN HEART JOURNAL

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound

(2014) K. J. Carss et al.   HUMAN MOLECULAR GENETICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Activities at the Universal Protein Resource (UniProt)

(2014)   NUCLEIC ACIDS RESEARCH

Exome sequencing reveals a potential mutational trajectory and treatments for a specific pancreatic cancer patient

(2014) James Cotterell   OncoTargets and Therapy

PredictSNP: Robust and Accurate Consensus Classifier for Prediction of Disease-Related Mutations

(2014) Jaroslav Bendl et al.   PLoS Computational Biology

Incidental Variants Are Critical for Genomics

(2013) Leslie G. Biesecker   AMERICAN JOURNAL OF HUMAN GENETICS

Secondary variants – in defense of a more fitting term in the incidental findings debate

(2013) Gabrielle M Christenhusz et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Whole-genome sequencing in health care

(2013) Carla G van El et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Managing incidental genomic findings: legal obligations of clinicians

(2013) Ellen Wright Clayton et al.   GENETICS IN MEDICINE

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics

(2013) Tessel Rigter et al.   HUMAN MUTATION

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Opportunities and challenges for the integration of massively parallel genomic sequencing into clinical practice: lessons from the ClinSeq project

(2012) Leslie G. Biesecker   GENETICS IN MEDICINE

VariBench: A Benchmark Database for Variations

(2012) Preethy Sasidharan Nair et al.   HUMAN MUTATION

Non-invasive prenatal measurement of the fetal genome

(2012) H. Christina Fan et al.   NATURE

Pharmacogenomics in clinical practice and drug development

(2012) Andrew R Harper et al.   NATURE BIOTECHNOLOGY

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The new Ghent criteria for Marfan syndrome: what do they change?

(2011) L Faivre et al.   CLINICAL GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

(2010) Dianna M. Milewicz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The revised Ghent nosology for the Marfan syndrome

(2010) B. L. Loeys et al.   JOURNAL OF MEDICAL GENETICS

2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease

(2010) Loren F. Hiratzka et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders

(2009) David Attias et al.   CIRCULATION

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity-application to four genes:FBN1,FBN2,TGFBR1, andTGFBR2

(2009) Mélissa Yana Frédéric et al.   HUMAN MUTATION

Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations

(2009) V Tran-Fadulu et al.   JOURNAL OF MEDICAL GENETICS

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

A new locus-specific database (LSDB) for mutations in theTGFBR2gene: UMD-TGFBR2

(2007) Melissa Yana Frederic et al.   HUMAN MUTATION