Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities
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R. Scott | S. Drury | L. Chitty | N. Lench | C. Boustred | N. Trump | Hywel Williams
[1] J. Friedman,et al. Exome sequencing for gene discovery in lethal fetal disorders – harnessing the value of extreme phenotypes , 2015, Prenatal diagnosis.
[2] S. Chandrasekharan,et al. Global perspectives on clinical adoption of NIPT , 2015, Prenatal diagnosis.
[3] M. Westgren,et al. Stem cell transplantation before birth – a realistic option for treatment of osteogenesis imperfecta? , 2015, Prenatal diagnosis.
[4] A. Barrett,et al. Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach , 2015, Prenatal diagnosis.
[5] S. Drury,et al. Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis , 2015, Prenatal diagnosis.
[6] L. Ousager,et al. Research participants in NGS studies want to know about incidental findings , 2015, European Journal of Human Genetics.
[7] Lacey Smith,et al. Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the 2013 ACMG Recommendations into Current Practices of Genetic Counseling , 2015, Journal of Genetic Counseling.
[8] Magalie S Leduc,et al. Molecular findings among patients referred for clinical whole-exome sequencing. , 2014, JAMA.
[9] W. Chung,et al. Genetic Testing of Children for Diseases That Have Onset in Adulthood: The Limits of Family Interests , 2014, Pediatrics.
[10] W. Wasserman,et al. Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype , 2014, Clinical genetics.
[11] G. Matthijs,et al. Clinical utility gene card for: Phosphomannose isomerase deficiency , 2014, European Journal of Human Genetics.
[12] R. Scott,et al. A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis—Further evidence of genotype–phenotype correlation , 2014, American journal of medical genetics. Part A.
[13] D. Halley,et al. A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands , 2014, Clinical genetics.
[14] M. Hurles,et al. Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound , 2014, Human molecular genetics.
[15] Deanna M. Church,et al. ClinVar: public archive of relationships among sequence variation and human phenotype , 2013, Nucleic Acids Res..
[16] Magalie S Leduc,et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. , 2013, The New England journal of medicine.
[17] J. Rosenfeld,et al. The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature , 2013, Prenatal diagnosis.
[18] Marc S. Williams,et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing , 2013, Genetics in Medicine.
[19] Matthew W Snyder,et al. Noninvasive fetal genome sequencing: a primer , 2013, Prenatal diagnosis.
[20] Richard D Emes,et al. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement , 2013, Journal of Medical Genetics.
[21] S. Mansour,et al. FLT4/VEGFR3 and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update , 2013, Human mutation.
[22] H. Peeters,et al. Congenital High Airway Obstruction Syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findings. , 2013, Genetic counseling.
[23] Michael E Talkowski,et al. Clinical diagnosis by whole-genome sequencing of a prenatal sample. , 2012, The New England journal of medicine.
[24] Peter Saffrey,et al. Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units , 2012, Science Translational Medicine.
[25] J. Shendure,et al. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome , 2012, Nature Genetics.
[26] Y. Benjamini,et al. Summarizing and correcting the GC content bias in high-throughput sequencing , 2012, Nucleic acids research.
[27] P. Bayrak-Toydemir,et al. p.R672C Mutation of MYH3 Gene in an Egyptian Infant Presented with Freeman-Sheldon Syndrome , 2011, Indian journal of pediatrics.
[28] Daniel Rios,et al. Bioinformatics Applications Note Databases and Ontologies Deriving the Consequences of Genomic Variants with the Ensembl Api and Snp Effect Predictor , 2022 .
[29] T. Shiihara,et al. A case of Baraitser–Winter syndrome with unusual brain MRI findings: Pachygyria, subcortical-band heterotopia, and periventricular heterotopia , 2010, Brain and Development.
[30] C. Bilardo,et al. Increased nuchal translucency in euploid fetuses—what should we be telling the parents? , 2010, Prenatal diagnosis.
[31] Ken Chen,et al. VarScan: variant detection in massively parallel sequencing of individual and pooled samples , 2009, Bioinform..
[32] Richard Durbin,et al. Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .
[33] E. Fulcheri,et al. Nuchal translucency and lymphatic system maldevelopment , 2009, Journal of perinatal medicine.
[34] Tze Kin Lau,et al. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. , 2008, Clinical chemistry.
[35] E. Pajkrt,et al. Increased nuchal translucency thickness and normal karyotype: time for parental reassurance , 2007, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.
[36] D. Ellwood,et al. P14.77: Prenatal diagnosis of Nonne‐Milroy primary congenital lymphedema—a case report of 2 cases and review of the literature , 2004 .
[37] L. Ala‐Kokko,et al. Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. , 2000, American journal of medical genetics.
[38] R. Snijders,et al. Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10–14 weeks of gestation , 1998, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.