标题
Next generation sequencing--implications for clinical practice
作者
关键词
-
出版物
BRITISH MEDICAL BULLETIN
Volume 99, Issue 1, Pages 53-71
出版商
Oxford University Press (OUP)
发表日期
2011-09-05
DOI
10.1093/bmb/ldr029
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP
- (2011) Lisenka E.L.M. Vissers et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta
- (2011) Jutta Becker et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome
- (2011) Xose S. Puente et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome
- (2011) James O'Sullivan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy
- (2011) Alexandra Götz et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis
- (2011) Bertrand Isidor et al. NATURE GENETICS
- Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing
- (2011) C. J. Bell et al. Science Translational Medicine
- Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome
- (2010) Christian Gilissen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes
- (2010) Asli Sirmaci et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome
- (2010) Sarah B. Pierce et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency
- (2010) Alexandre Bolze et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene
- (2010) Yu Sun et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82
- (2010) Tom Walsh et al. AMERICAN JOURNAL OF HUMAN GENETICS
- PERSONAL GENOMES: NO BAD NEWS?
- (2010) RUTH CHADWICK BIOETHICS
- Microindel detection in short-read sequence data
- (2010) Peter Krawitz et al. BIOINFORMATICS
- Personalized medicine - the promised land: are we there yet?
- (2010) C Li CLINICAL GENETICS
- Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia
- (2010) J. Rios et al. HUMAN MOLECULAR GENETICS
- Massively parallel sequencing and rare disease
- (2010) S. B. Ng et al. HUMAN MOLECULAR GENETICS
- Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing
- (2010) Emilie Lalonde et al. HUMAN MUTATION
- Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
- (2010) Kaya Bilgüvar et al. NATURE
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency
- (2010) Tobias B Haack et al. NATURE GENETICS
- Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
- (2010) Edgar A Otto et al. NATURE GENETICS
- De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
- (2010) Alexander Hoischen et al. NATURE GENETICS
- Whole-genome sequencing and comprehensive variant analysis of a Japanese individual using massively parallel sequencing
- (2010) Akihiro Fujimoto et al. NATURE GENETICS
- Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
- (2010) Sarah B Ng et al. NATURE GENETICS
- A de novo paradigm for mental retardation
- (2010) Lisenka E L M Vissers et al. NATURE GENETICS
- Target-enrichment strategies for next-generation sequencing
- (2010) Lira Mamanova et al. NATURE METHODS
- Exome Sequencing,ANGPTL3Mutations, and Familial Combined Hypolipidemia
- (2010) Kiran Musunuru et al. NEW ENGLAND JOURNAL OF MEDICINE
- Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
- (2010) James R. Lupski et al. NEW ENGLAND JOURNAL OF MEDICINE
- Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus
- (2010) Y. M. D. Lo et al. Science Translational Medicine
- Whole exome capture in solution with 3 Gbp of data
- (2010) Matthew N Bainbridge et al. GENOME BIOLOGY
- The recent genetics of hypogonadotrophic hypogonadism - novel insights and new questions
- (2009) Robert K. Semple et al. CLINICAL ENDOCRINOLOGY
- Targeted capture and massively parallel sequencing of 12 human exomes
- (2009) Sarah B. Ng et al. NATURE
- Exome sequencing identifies the cause of a mendelian disorder
- (2009) Sarah B Ng et al. NATURE GENETICS
- Exome Sequencing of a Multigenerational Human Pedigree
- (2009) Dale Hedges et al. PLoS One
- Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
- (2009) Murim Choi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes
- (2009) S. Nejentsev et al. SCIENCE
- The Human Gene Mutation Database: 2008 update
- (2009) Peter D Stenson et al. Genome Medicine
- Next-generation DNA sequencing
- (2008) Jay Shendure et al. NATURE BIOTECHNOLOGY
- Genetic Variation in an Individual Human Exome
- (2008) Pauline C. Ng et al. PLoS Genetics
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now