Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.
about
Recent advances in prenatal genetic screening and testingNeu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathwayUnsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' viewsClinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.Introducing the next generation sequencing in genomic amnio and villuos sampling. The so called "Next Generation Prenatal Diagnosis" (NGPD).Promises, pitfalls and practicalities of prenatal whole exome sequencing.Counseling Challenges with Variants of Uncertain Significance and Incidental Findings in Prenatal Genetic Screening and Diagnosis.Exome Sequencing in Fetuses with Structural MalformationsGermline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposisComparative study of aCGH and Next Generation Sequencing (NGS) for chromosomal microdeletion and microduplication screening.Factors affecting recall of different types of personal genetic information about Alzheimer's disease risk: the REVEAL study.Newborn screening and the era of medical genomics.First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defectsRecent advances of genomic testing in perinatal medicineNovel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing.Exome sequencing for gene discovery in lethal fetal disorders--harnessing the value of extreme phenotypes.Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders.Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice.Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations.Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies.A Clinician's perspective on clinical exome sequencing.Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.Prenatal Testing for Adult-Onset Conditions: the Position of the National Society of Genetic Counselors.Prenatal and pre-implantation genetic diagnosis.Unsolved challenges in pediatric whole-exome sequencing: A literature analysis.Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.Identification of minor chromosomal defects causing abnormal foetus and spontaneous abortions.Prenatal and postnatal findings in small-for-gestational-age fetuses without structural ultrasound anomalies at 18-24 weeks.Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.Congenital diaphragmatic hernias: from genes to mechanisms to therapies.Prenatal diagnosis of X-linked myopathy associated with a VMA21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findingsNext generation sequencing in the identification of a rare genetic disease from preconceptional couple screening to preimplantation genetic diagnosis.Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.Molecular autopsy in maternal-fetal medicine.Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges.Parental experiences of prenatal whole exome sequencing (WES) in cases of ultrasound diagnosed fetal structural anomaly.Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.A Dysmorphology Based Systematic Approach Toward Perinatal Genetic Diagnosis in a Fetal Autopsy Series.Advanced genomic testing may aid in counseling of isolated agenesis of the corpus callosum on prenatal ultrasound.
P2860
Q28071888-4B719DED-68AD-48C9-A8A8-46BA8E6FD9EFQ28246648-D6395DE8-3DDB-409E-93DF-8FCED3CEE096Q28597904-4DC015F7-EB53-4D5E-87A9-269E2DDFE7DCQ33755919-1CA837A5-0980-40BC-96C5-FB25EE57B204Q34295101-03EEB03B-6687-494A-B977-8867EB2F114BQ34558273-F9DEE521-077C-4753-B6A9-52EEF8561E86Q35667103-0A7FBCA0-3E73-46FE-BC71-6E011F651EE7Q35667111-0D5ECDD0-11BD-467C-9F2A-8E871E51DB38Q35693908-78A61889-8F84-4601-96AC-06C900762FB1Q35743448-59238BE1-9D40-449A-84DC-339266396ADBQ35751095-8D0C5E33-79A7-4A3D-9E10-E2AA1AA50914Q36279569-DB2E2676-79F8-4881-AF6E-3902ED6C70ABQ36881073-22190DF5-3E78-4274-A4DA-98D1A16DB372Q36943811-4FB5B08C-2275-40B4-8E38-A6B39B20435DQ37411360-C7D4114D-02B7-4B4A-A821-E02E2756653CQ38232194-DD16214B-D754-4C38-BC2E-2119F935664FQ38562550-2D072B67-D90C-4FB6-9DBA-D1455BCA39C6Q38567069-1DE7D962-17C6-4E2E-AC62-8277D652620FQ38739393-5496F295-CD46-4AEE-B990-C0BD0D92763EQ38794125-6360102E-BEDC-43C5-B0E7-49A99C175BB0Q38820327-AADE2645-D18F-4EEC-9FCC-9B2C363E531BQ38828975-F2C0E869-337F-420B-BF5F-E5F0247B815CQ38846678-EE42B902-8B4F-40BA-B34E-413D2E91D13CQ38954748-6E68DA71-D551-48FC-8998-4FD8125673EBQ38993286-7A12AE84-B72D-4384-8FDD-F1CBAA6068C5Q39730574-4B4090AE-2BE0-464E-8209-7486FF4D8241Q39764849-9DF1C809-975C-48EC-9680-C202F7E6DB2FQ39831964-5A8841BF-E914-4583-A9EE-16F02FC7CE2BQ40294105-EB576D3A-DB79-45A1-9ACE-8EFD4595DC03Q41440531-D18EB658-1AF1-4409-AE7A-C0AA87F9B984Q42319184-C6B3A5A4-A107-4E8C-B94B-F3019B3AE092Q42931536-15884147-F907-49D4-AEF4-A3EB51014BE0Q45944246-1D458541-B1E7-4FAE-B160-403EDF7CE58FQ46362531-B7D7BD74-4900-4D86-BBE0-EBB1EE9FA7FDQ47114779-A50C1D89-62BC-4E02-AEC7-EE8F542990F7Q47131952-D57D0647-FD42-49CA-AE80-3EA0F708DC76Q47312945-FFB01C27-2B07-4E7F-A819-BFAD10BE8A76Q47904747-8C51F9C5-E2C2-4BB1-BD3E-9D5FC680D988Q48237082-983597E6-1B53-4843-9252-42377E168BEDQ48332926-FFE222E8-1781-4F31-AA53-791CC7F1FE2A
P2860
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.
description
2014 nî lūn-bûn
@nan
2014 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Exome sequencing improves gene ...... lities revealed by ultrasound.
@ast
Exome sequencing improves gene ...... lities revealed by ultrasound.
@en
type
label
Exome sequencing improves gene ...... lities revealed by ultrasound.
@ast
Exome sequencing improves gene ...... lities revealed by ultrasound.
@en
prefLabel
Exome sequencing improves gene ...... lities revealed by ultrasound.
@ast
Exome sequencing improves gene ...... lities revealed by ultrasound.
@en
P2093
P2860
P356
P1476
Exome sequencing improves gene ...... lities revealed by ultrasound.
@en
P2093
Dominic J McMullan
Eamonn R Maher
Mark D Kilby
Matthew E Hurles
Vijaya Parthiban
P2860
P304
P356
10.1093/HMG/DDU038
P577
2014-01-29T00:00:00Z