Related references
Note: Only part of the references are listed.Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations
Ahmad N. Abou Tayoun et al.
PRENATAL DIAGNOSIS (2018)
Promises, pitfalls and practicalities of prenatal whole exome sequencing
Sunayna Best et al.
PRENATAL DIAGNOSIS (2018)
Submicroscopic chromosomal abnormalities in fetuses with increased nuchal translucency and normal karyotype
Xin Yang et al.
Journal of Maternal-Fetal & Neonatal Medicine (2017)
Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges
Neeta L. Vora et al.
GENETICS IN MEDICINE (2017)
Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract
Ting-ying Lei et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2017)
Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders
Shingo Koyama et al.
BMC MEDICAL GENETICS (2017)
Using Fetal Cells for Prenatal Diagnosis: History and Recent Progress
Arthur L. Beaudet
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2016)
Intra-familial variability associated with recessive RYR1 mutation diagnosed prenatally by exome sequencing
Jillian Casey et al.
PRENATAL DIAGNOSIS (2016)
Prenatal diagnosis of submicroscopic chromosomal aberrations in fetuses with ventricular septal defects by chromosomal microarray-based analysis
Liu Du et al.
PRENATAL DIAGNOSIS (2016)
Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome
Christina Kehrer et al.
PRENATAL DIAGNOSIS (2016)
First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects
Constantinos Pangalos et al.
PEERJ (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
The Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Gene VRK1 Regulates Neuronal Migration through an Amyloid-β Precursor Protein-Dependent Mechanism
Hadar Vinograd-Byk et al.
JOURNAL OF NEUROSCIENCE (2015)
Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities
Suzanne Drury et al.
PRENATAL DIAGNOSIS (2015)
Prenatal whole-exome sequencing: parental attitudes
Eve J. Kalynchuk et al.
PRENATAL DIAGNOSIS (2015)
An exome sequencing strategy to diagnose lethal autosomal recessive disorders
Sian Ellard et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposisFurther evidence of genotype-phenotype correlation
Suzanne Drury et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
High-resolution microarray in the assessment of fetal anomalies detected by ultrasound
Poonam Charan et al.
AUSTRALIAN & NEW ZEALAND JOURNAL OF OBSTETRICS & GYNAECOLOGY (2014)
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound
Keren J. Carss et al.
HUMAN MOLECULAR GENETICS (2014)
Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature
M. C. de Wit et al.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY (2014)
Exome Sequencing in Fetuses with Structural Malformations
Fiona L. Mackie et al.
JOURNAL OF CLINICAL MEDICINE (2014)
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Yaping Yang et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
Carol Jean Saunders et al.
SCIENCE TRANSLATIONAL MEDICINE (2012)
Molecular genetics in fetal neurology
Jin Huang et al.
SEMINARS IN FETAL & NEONATAL MEDICINE (2012)
What disorders of cortical development tell us about the cortex: one plus one does not always make two
M. Chiara Manzini et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2011)
Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene
Paul Renbaum et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Prenatal diagnosis of malformations of cortical development by dedicated neurosonography
G. Malinger et al.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY (2007)
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome
MA Parisi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Share Paper
