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。COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: prospective cohort study and systematic review
F. Mone et al.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY (2021)
The role of next-generation sequencing in the investigation of ultrasound-identified fetal structural anomalies
M. D. Kilby
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY (2021)
Prenatal and perinatal history in Kabuki Syndrome
Chen E. Rosenberg et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2020)
Contribution of single-gene defects to congenital cardiac left-sided lesions in the prenatal setting
H. Sun et al.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY (2020)
Holoprosencephaly in Kabuki syndrome
Tara Daly et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2020)
Next-generation sequencing in prenatal setting: Some examples of unexpected variant association
Berardo Rinaldi et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2020)
The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)
Kristin G. Monaghan et al.
GENETICS IN MEDICINE (2020)
Prenatal exome sequencing in fetuses with congenital heart defects
Ru Li et al.
CLINICAL GENETICS (2020)
Whole-exome sequencing in the evaluation of fetal congenital anomalies of the kidney and urinary tract detected by ultrasonography
Ting-Ying Lei et al.
PRENATAL DIAGNOSIS (2020)
DE NOVO KMT2D HETEROZYGOUS FRAMESHIFT DELETION IN A NEWBORN WITH A CONGENITAL HEART ANOMALY
Stangler Herodez S et al.
BALKAN JOURNAL OF MEDICAL GENETICS (2020)
Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report
Wei Guo et al.
BMC MEDICAL GENETICS (2020)
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound
Nicole Corsten-Janssen et al.
PRENATAL DIAGNOSIS (2020)
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals (vol 21, pg 262, 2019)
Kai Lee Yap et al.
GENETICS IN MEDICINE (2019)
Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing
Dominik S. Westphal et al.
CLINICAL GENETICS (2019)
From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care
Maayke A. de Koning et al.
GENETICS IN MEDICINE (2019)
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study
Slave Petrovski et al.
LANCET (2019)
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
Jenny Lord et al.
LANCET (2019)
Novel heterozygous variants in KMT2D associated with holoprosencephaly
Cedrik Tekendo-Ngongang et al.
CLINICAL GENETICS (2019)
Fetal pleural effusion: Contemporary methods of genetic evaluation
Tal Weissbach et al.
PRENATAL DIAGNOSIS (2019)
Fetal phenotypes emerge as genetic technologies become robust
Kathryn J. Gray et al.
PRENATAL DIAGNOSIS (2019)
Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis
Kwong Wai Choy et al.
FRONTIERS IN GENETICS (2019)
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies
Elizabeth Quinlan-Jones et al.
GENETICS IN MEDICINE (2019)
Kabuki syndrome: international consensus diagnostic criteria
Margaret P. Adam et al.
JOURNAL OF MEDICAL GENETICS (2019)
Cystic biliary atresia with paucity of bile ducts and gene mutation in KDM6A: a case report
Daisuke Masui et al.
SURGICAL CASE REPORTS (2019)
Promises, pitfalls and practicalities of prenatal whole exome sequencing
Sunayna Best et al.
PRENATAL DIAGNOSIS (2018)
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype
Jana Paderova et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2018)
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management
Natalie Chandler et al.
GENETICS IN MEDICINE (2018)
Clinical application of targeted next-generation sequencing in fetuses with congenital heart defect
P. Hu et al.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY (2018)
Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities
F. Fu et al.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY (2018)
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
Elizabeth A. Normand et al.
GENOME MEDICINE (2018)
Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report
Zhimei Guo et al.
BMC MEDICAL GENETICS (2018)
Clinical utility of exome sequencing in the prenatal diagnosis of congenital anomalies: A Review
Fionnuala Mone et al.
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY (2018)
Rare single gene disorders: estimating baseline prevalence and outcomes worldwide
Hannah Blencowe et al.
JOURNAL OF COMMUNITY GENETICS (2018)
Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges
Neeta L. Vora et al.
GENETICS IN MEDICINE (2017)
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development
Carin L. Yates et al.
GENETICS IN MEDICINE (2017)
Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome
Maria Haanpaa et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
Kabuki Syndrome as a Cause of Non-Immune Fetal Hydrops/Ascites
Ashleigh Long et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia
Terri P. McVeigh et al.
CLINICAL DYSMORPHOLOGY (2015)
Kabuki syndrome: clinical and molecular diagnosis in the first year of life
Maria Lisa Dentici et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2015)
Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)
S. Banka et al.
CLINICAL GENETICS (2015)
A Three Generation X-Linked Family With Kabuki Syndrome Phenotype and a Frameshift Mutation in KDM6A
Damien Lederer et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene
Gerarda Cappuccio et al.
BMC MEDICAL GENETICS (2014)
KDM6A Point Mutations Cause Kabuki Syndrome
Noriko Miyake et al.
HUMAN MUTATION (2013)
Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome
Damien Lederer et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
Siddharth Banka et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
Mirror-Image Asymmetry in Monozygotic Twins with Kabuki Syndrome
A. Riess et al.
MOLECULAR SYNDROMOLOGY (2012)
Monitoring the prenatal detection of structural fetal congenital anomalies in England and Wales: register-based study
Patricia A. Boyd et al.
JOURNAL OF MEDICAL SCREENING (2011)
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
Sarah B. Ng et al.
NATURE GENETICS (2010)
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
Murim Choi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
分享论文
