Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

(2018) Clare Turnbull et al.   BMJ-British Medical Journal

The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

(2018) Clare Turnbull et al.   BMJ-British Medical Journal

The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia

(2018) Alison M. Elliott et al.   Molecular Genetics & Genomic Medicine

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

(2018) Kimberly Splinter et al.   NEW ENGLAND JOURNAL OF MEDICINE

Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study

(2017) Elizabeth Ormondroyd et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Reporting practices for variants of uncertain significance from next generation sequencing technologies

(2017) Danya F. Vears et al.   European Journal of Medical Genetics

“Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project

(2017) Elizabeth Ormondroyd et al.   GENETICS IN MEDICINE

Lessons learned from additional research analyses of unsolved clinical exome cases

(2017) Mohammad K. Eldomery et al.   Genome Medicine

Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data

(2017) Ruen Yao et al.   Molecular Cytogenetics

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

(2017) Tiong Yang Tan et al.   JAMA Pediatrics

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

(2016) Daniel Trujillano et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings

(2016) Johannes Trück et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic

(2016) Konstantinos N. Lazaridis et al.   MAYO CLINIC PROCEEDINGS

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

(2016) Monkol Lek et al.   NATURE

The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

(2016) Gareth Baynam et al.   Orphanet Journal of Rare Diseases

BRAT1-related disease-identification of a patient without early lethality

(2015) Sheraden A. Mundy et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

(2015) S.L. Sawyer et al.   CLINICAL GENETICS

A prospective cohort study assessing clinical referral management & workforce allocation within a UK regional medical genetics service

(2015) Caroline Benjamin et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

(2015) Jenny C Taylor et al.   NATURE GENETICS

Closing the Gap between Knowledge and Clinical Application: Challenges for Genomic Translation

(2015) Wylie Burke et al.   PLoS Genetics

Performance comparison of four exome capture systems for deep sequencing

(2014) Chandra Sekhar Chilamakuri et al.   BMC GENOMICS

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

(2014) Gerald Pfeffer et al.   BRAIN

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation

(2014) Emmanuel Martin et al.   NATURE

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

(2014) Andy Rimmer et al.   NATURE GENETICS

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

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

Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor

(2012) Carlo Rinaldi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

(2012) Francois P. Bernier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

(2012) Vincent Plagnol et al.   BIOINFORMATICS

Stampy: A statistical algorithm for sensitive and fast mapping of Illumina sequence reads

(2010) G. Lunter et al.   GENOME RESEARCH

Congenital Ataxia, Mental Retardation, and Dyskinesia Associated With a Novel CACNA1A Mutation

(2010) Lubov Blumkin et al.   JOURNAL OF CHILD NEUROLOGY

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

(2009) Caroline Huzé et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

(2008) Violeta Mihaylova et al.   BRAIN