Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound
出版年份 2014 全文链接
标题
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound
作者
关键词
-
出版物
HUMAN MOLECULAR GENETICS
Volume 23, Issue 12, Pages 3269-3277
出版商
Oxford University Press (OUP)
发表日期
2014-01-30
DOI
10.1093/hmg/ddu038
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- (2013) Gianina Ravenscroft et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2013) Lisa Woodbine et al. JOURNAL OF CLINICAL INVESTIGATION
- De novo mutations in histone-modifying genes in congenital heart disease
- (2013) Samir Zaidi et al. NATURE
- DeNovoGear: de novo indel and point mutation discovery and phasing
- (2013) Avinash Ramu et al. NATURE METHODS
- Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
- (2013) Yaping Yang et al. NEW ENGLAND JOURNAL OF MEDICINE
- An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions
- (2013) Bum Jun Kim et al. PLoS One
- Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis
- (2013) S. C. Hillman et al. ULTRASOUND IN OBSTETRICS & GYNECOLOGY
- fras1 shapes endodermal pouch 1 and stabilizes zebrafish pharyngeal skeletal development
- (2012) J. C. Talbot et al. DEVELOPMENT
- Generation of mice with a conditional nullfraser syndrome 1(Fras1) allele
- (2012) Jolanta E. Pitera et al. GENESIS
- Novel Mutations Including Deletions of the EntireOFD1Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability
- (2012) Izak J. Bisschoff et al. HUMAN MUTATION
- Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
- (2012) Anita Rauch et al. LANCET
- Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample
- (2012) Michael E. Talkowski et al. NEW ENGLAND JOURNAL OF MEDICINE
- Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
- (2012) Joep de Ligt et al. NEW ENGLAND JOURNAL OF MEDICINE
- Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis
- (2012) Ronald J. Wapner et al. NEW ENGLAND JOURNAL OF MEDICINE
- Prenatal Detection of Aneuploidy and Imbalanced Chromosomal Arrangements by Massively Parallel Sequencing
- (2012) Shan Dan et al. PLoS One
- Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing
- (2011) Itai Berger et al. MOLECULAR GENETICS AND METABOLISM
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
- (2011) Brian J O'Roak et al. NATURE GENETICS
- Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts
- (2010) Philip Awadalla et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The Human Phenotype Ontology
- (2010) PN Robinson et al. CLINICAL GENETICS
- The polarity protein Pard3 is required for centrosome positioning during neurulation
- (2010) Elim Hong et al. DEVELOPMENTAL BIOLOGY
- Nervous-tissue-specific elimination of microtubule-actin crosslinking factor 1a results in multiple developmental defects in the mouse brain
- (2010) Dmitry Goryunov et al. MOLECULAR AND CELLULAR NEUROSCIENCE
- Rere controls retinoic acid signalling and somite bilateral symmetry
- (2010) Gonçalo C. Vilhais-Neto et al. NATURE
- Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
- (2010) Sabine Endele et al. NATURE GENETICS
- Cardiac and vascular functions of the zebrafish orthologues of the type I neurofibromatosis geneNFI
- (2009) Arun Padmanabhan et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
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