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CLINICAL GENETICS (2016)
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Jessica X. Chong et al.
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Niccolo E. Mencacci et al.
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Ricardo Parolin Schnekenberg et al.
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Oriol Calvete et al.
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Stefan H. Lelieveld et al.
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Yu Sun et al.
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Kym Boycott et al.
JOURNAL OF MEDICAL GENETICS (2015)
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Tawfeg Ben-Omran et al.
JOURNAL OF MEDICAL GENETICS (2015)
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Jong Hee Chae et al.
JOURNAL OF MEDICAL GENETICS (2015)
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Alberto Cascon et al.
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Caroline F. Wright et al.
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Robbert D. A. Weren et al.
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Leila Noetzli et al.
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Ryan K. C. Yuen et al.
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Janine Meienberg et al.
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H. Nakagawa et al.
ONCOGENE (2015)
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Aziz Belkadi et al.
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Elizabeth T. Cirulli et al.
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Kevin Litchfield et al.
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Lv-Zhen Huang et al.
NATURE COMMUNICATIONS (2015)
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Xianbo Zuo et al.
NATURE COMMUNICATIONS (2015)
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility
Jennifer Wessel et al.
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Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke The NHLBI Exome Sequence Project
Paul L. Auer et al.
JAMA NEUROLOGY (2015)
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Alberto Cascon et al.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2015)
Exome sequencing in undiagnosed inherited and sporadic ataxias
Angela Pyle et al.
BRAIN (2015)
Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing
Yuan Xue et al.
GENETICS IN MEDICINE (2015)
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Kelly D. Farwell et al.
GENETICS IN MEDICINE (2015)
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland
Li Zhao et al.
HUMAN GENETICS (2015)
Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies
Chengliang Dong et al.
HUMAN MOLECULAR GENETICS (2015)
Case-only exome sequencing and complex disease susceptibility gene discovery: study design considerations
Lang Wu et al.
JOURNAL OF MEDICAL GENETICS (2015)
Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma
Matthew N. Bainbridge et al.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2015)
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
Ron Do et al.
NATURE (2015)
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach
Ioannis Karageorgos et al.
HUMAN GENOMICS (2015)
PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia
Asbjorg Stray-Pedersen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Performance comparison of four exome capture systems for deep sequencing
Chandra Sekhar Reddy Chilamakuri et al.
BMC GENOMICS (2014)
Managing the ethical challenges of next-generation sequencing in genomic medicine
Angus J. Clarke
BRITISH MEDICAL BULLETIN (2014)
The Challenge for the Next Generation of Medical Geneticists
Thierry Frebourg
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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
Yaping Yang et al.
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Hane Lee et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)
Discovery and saturation analysis of cancer genes across 21 tumour types
Michael S. Lawrence et al.
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Sequencing depth and coverage: key considerations in genomic analyses
David Sims et al.
NATURE REVIEWS GENETICS (2014)
Diagnostic Clinical Genome and Exome Sequencing
Leslie G. Biesecker et al.
NEW ENGLAND JOURNAL OF MEDICINE (2014)
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Jiaxin Wu et al.
PLOS GENETICS (2014)
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Katherine A. Johansen Taber et al.
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Xuejun Zhang
FRONTIERS OF MEDICINE (2014)
Autozygosity Mapping with Exome Sequence Data
Ian M. Carr et al.
HUMAN MUTATION (2013)
From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease
Chee-Seng Ku et al.
JOURNAL OF MEDICAL GENETICS (2013)
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C. S. Ku et al.
MOLECULAR PSYCHIATRY (2013)
Cancer genome-sequencing study design
Jill C. Mwenifumbo et al.
NATURE REVIEWS GENETICS (2013)
Emerging patterns of somatic mutations in cancer
Ian R. Watson et al.
NATURE REVIEWS GENETICS (2013)
Disease-targeted sequencing: a cornerstone in the clinic
Heidi L. Rehm
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Diagnostic Exome Sequencing: A New Paradigm in Neurology
Norman Delanty et al.
NEURON (2013)
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene
Koji M. Nishiguchi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Mutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly
Claudia Gonzaga-Jauregui et al.
JAMA NEUROLOGY (2013)
The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions
Michael J. Bamshad et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Exome sequencing: Dual role as a discovery and diagnostic tool
Chee-Seng Ku et al.
ANNALS OF NEUROLOGY (2012)
Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders
Bahareh Rabbani et al.
JOURNAL OF HUMAN GENETICS (2012)
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
Gijs W. E. Santen et al.
NATURE GENETICS (2012)
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
Yoshinori Tsurusaki et al.
NATURE GENETICS (2012)
Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genes
Zhi Jiang Zang et al.
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APPLICATIONS OF NEXT-GENERATION SEQUENCING De novo mutations in human genetic disease
Joris A. Veltman et al.
NATURE REVIEWS GENETICS (2012)
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
Joep de Ligt et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
Elizabeth A. Worthey et al.
GENETICS IN MEDICINE (2011)
Revisiting Mendelian disorders through exome sequencing
Chee-Seng Ku et al.
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Use of Whole-Genome Sequencing to Diagnose a Cryptic Fusion Oncogene
John S. Welch et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2011)
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband
David Watkins et al.
JOURNAL OF MEDICAL GENETICS (2011)
Performance comparison of exome DNA sequencing technologies
Michael J. Clark et al.
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Inaki Comino-Mendez et al.
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Exome sequencing as a tool for Mendelian disease gene discovery
Michael J. Bamshad et al.
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Comprehensive comparison of three commercial human whole-exome capture platforms
Asan et al.
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International network of cancer genome projects
Thomas J. Hudson et al.
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Sarah B. Ng et al.
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Murim Choi et al.
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Sian Jones et al.
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