Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
about
The Human Phenotype Ontology: Semantic Unification of Common and Rare DiseaseMedical implications of technical accuracy in genome sequencingBRAT1 deficiency causes increased glucose metabolism and mitochondrial malfunctionQuality standards for DNA sequence variation databases to improve clinical management under development in Australia.Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinismClinical application of next-generation sequencing for Mendelian diseasesThe Human Genome Project, and recent advances in personalized genomicsGenomics, personalized medicine, and pediatricsApplicability of digital PCR to the investigation of pediatric-onset genetic disordersMMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebratesA patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromesGenomic intensive care: should we perform genome testing in critically ill newborns?Attitudes of Canadian researchers toward the return to participants of incidental and targeted genomic findings obtained in a pediatric research settingIndividualized medicine from prewomb to tombACMG recommendations for reporting of incidental findings in clinical exome and genome sequencingAre physicians prepared for whole genome sequencing? a qualitative analysisFunctional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.Sudden Unexpected Death in Fetal Life Through Early ChildhoodWhole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics.Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2.The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicineComprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.Precision medicine in the age of big data: The present and future role of large-scale unbiased sequencing in drug discovery and development.The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway.Technology-driven diagnostics: From smart doctor to smartphone.Whole genome sequencing identifies missense mutation in MTBP in Shar-Pei affected with Autoinflammatory Disease (SPAID)Genetic-based prediction of disease traits: prediction is very difficult, especially about the futureProbabilistic method for detecting copy number variation in a fetal genome using maternal plasma sequencing.To disclose, or not to disclose? Context matters.Sequencing studies in human genetics: design and interpretation.Newborn screening: adapting to advancements in whole-genome sequencing.Growing up in the genomic era: implications of whole-genome sequencing for children, families, and pediatric practice.Translating personalized medicine using new genetic technologies in clinical practice: the ethical issuesMolecular genetic testing and the future of clinical genomics.Public views on participating in newborn screening using genome sequencingDe novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduriaThe evolution of nanopore sequencing.A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases
P2860
Q21819337-22F79EBA-0C80-476D-A0A2-A6EA3DA84010Q23005220-06A67076-849F-43DE-B69A-D6AA6DE13540Q24301506-709839BA-D206-45AF-B43D-8E328369281CQ24658490-ED657972-DAA5-4083-998F-0CAC2DC9C411Q26824806-586F07C2-83CA-4D25-B45B-159E9DEE61ABQ26851246-82E7A729-93A1-49F3-BCA4-8381C5E2708AQ26861372-51831388-25F0-43D9-90DE-FB62D79093FAQ26991570-768AB686-A038-487E-B34D-F2DE265C8BDBQ28077128-3A76A8EB-0A07-4DE4-8504-379007338E3CQ28117380-189C438F-95A5-499F-AA9A-A3F43CF16EC4Q28261627-EBEEAD40-E681-4415-8D3F-991E808E6E0EQ28602735-32E00A79-2669-463E-BE23-7935EFD7364CQ28659644-62BDF969-96B6-4EF7-BD5D-0B8BDFF09D9EQ29525070-0118C847-A625-4EC1-B853-C0F26D5FE71DQ29616235-5550174E-37BA-46EC-8C12-B8FD8E8004DBQ30203352-AB3893FC-9CA9-4CC2-92C0-E13FD65ECCD6Q30313677-3A0EE362-522C-4571-87D2-EB3E22BC589AQ30352522-80335074-0B9D-4FA2-9CF3-67E509FD6A27Q30391597-C124610C-8CD6-4B63-8006-3F64CA6DA97AQ30391601-A89DA8FA-03D3-4C6F-B496-685DD74790C7Q30399258-D658B2EE-CE5C-4168-BAE0-FAC6C902BCCAQ30585056-61C9187B-731D-4296-A689-1E8337BD31F3Q30657467-07714A65-451C-42F2-986E-ACCBF281C426Q31017820-2914D9C3-7125-457E-9135-3C543861A0E5Q31022422-49F72C22-3BE2-4E18-82F1-42CE5E485EACQ33447107-8B2279F2-8CEA-4951-AE71-3985CD0C6D6DQ33640755-F2137412-ED96-4E42-8C54-464FD03B0A3FQ33693846-035F582D-3716-4D45-BDCE-8A504E52D4B3Q33760408-C2299EB1-07B2-4A0F-8F22-618D50979C64Q33774038-8D968D66-0992-4718-BDF0-2A478276CB79Q33981063-49CAA01D-0756-40CB-90B0-C77A92D56267Q34113851-3A703C77-1972-4D5F-A827-F0B1DBEF44FEQ34157264-9FF136DD-F556-473E-B19A-DAC3BF2F6CA2Q34159801-96BAB20B-F516-4675-89FD-456DB08D7B90Q34345162-5644FA96-33CB-43DD-A76E-D4FC89CA38D1Q34356757-5EE95AD7-A8CC-4EFD-990A-38F32035EEF1Q34371843-E64F887B-FF47-49A9-93D3-6B070B39BA84Q34458614-D74998D9-875B-476E-8CE3-F0DB6359C514Q34459110-5BFE90DD-16FE-438A-A24A-5D46AB77D8F6Q34496202-881962BB-4370-4E3F-905F-E0111977BD0D
P2860
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
description
2012 nî lūn-bûn
@nan
2012 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Rapid whole-genome sequencing ...... neonatal intensive care units.
@ast
Rapid whole-genome sequencing ...... neonatal intensive care units.
@en
Rapid whole-genome sequencing ...... neonatal intensive care units.
@nl
type
label
Rapid whole-genome sequencing ...... neonatal intensive care units.
@ast
Rapid whole-genome sequencing ...... neonatal intensive care units.
@en
Rapid whole-genome sequencing ...... neonatal intensive care units.
@nl
prefLabel
Rapid whole-genome sequencing ...... neonatal intensive care units.
@ast
Rapid whole-genome sequencing ...... neonatal intensive care units.
@en
Rapid whole-genome sequencing ...... neonatal intensive care units.
@nl
P2093
P2860
P1476
Rapid whole-genome sequencing ...... neonatal intensive care units.
@en
P2093
Aaron Noll
Carol Jean Saunders
Darrell Lee Dinwiddie
Elliott Harrison Margulies
Emily Gwendolyn Farrow
Jacqueline Claire Weir
Jason Betley
Joel Fellis
Joshua Erin Petrikin
Kevin Peter Hall
P2860
P304
P356
10.1126/SCITRANSLMED.3004041
P407
P577
2012-10-01T00:00:00Z