Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

Global perspectives on clinical adoption of NIPT

(2015) Mollie A. Minear et al.   PRENATAL DIAGNOSIS

Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis

(2015) Melissa Hill et al.   PRENATAL DIAGNOSIS

Stem cell transplantation before birth - a realistic option for treatment of osteogenesis imperfecta?

(2015) Magnus Westgren et al.   PRENATAL DIAGNOSIS

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach

(2015) Lyn S. Chitty et al.   PRENATAL DIAGNOSIS

A novel homozygousERCC5truncating mutation in a family with prenatal arthrogryposis-Further evidence of genotype-phenotype correlation

(2014) Suzanne Drury et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical utility gene card for: Phosphomannose isomerase deficiency

(2014) Jaak Jaeken et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound

(2014) K. J. Carss et al.   HUMAN MOLECULAR GENETICS

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the 2013 ACMG Recommendations into Current Practices of Genetic Counseling

(2014) Lacey A. Smith et al.   Journal of Genetic Counseling

Genetic Testing of Children for Diseases That Have Onset in Adulthood: The Limits of Family Interests

(2014) G. E. Hardart et al.   PEDIATRICS

Exome sequencing identifies mutations inKIF14as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

(2013) I. Filges et al.   CLINICAL GENETICS

A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands

(2013) R. van Minkelen et al.   CLINICAL GENETICS

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

Exome sequencing identifiesDYNC2H1mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

(2013) Miriam Schmidts et al.   JOURNAL OF MEDICAL GENETICS

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature

(2013) Jonathan L. A. Callaway et al.   PRENATAL DIAGNOSIS

Noninvasive fetal genome sequencing: a primer

(2013) Matthew W. Snyder et al.   PRENATAL DIAGNOSIS

FLT4/VEGFR3and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update

(2012) Kristiana Gordon et al.   HUMAN MUTATION

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

(2012) Michael E. Talkowski et al.   NEW ENGLAND JOURNAL OF MEDICINE

Summarizing and correcting the GC content bias in high-throughput sequencing

(2012) Yuval Benjamini et al.   NUCLEIC ACIDS RESEARCH

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

(2012) C. J. Saunders et al.   Science Translational Medicine

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

p.R672C Mutation of MYH3 Gene in an Egyptian Infant Presented with Freeman-Sheldon Syndrome

(2010) Mohammad Al-Haggar et al.   INDIAN JOURNAL OF PEDIATRICS

Increased nuchal translucency in euploid fetuses-what should we be telling the parents?

(2010) C.M. Bilardo et al.   PRENATAL DIAGNOSIS

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

(2009) Daniel C. Koboldt et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

A case of Baraitser–Winter syndrome with unusual brain MRI findings: Pachygyria, subcortical-band heterotopia, and periventricular heterotopia

(2009) Takashi Shiihara et al.   BRAIN & DEVELOPMENT

Nuchal translucency and lymphatic system maldevelopment

(2009) Carlo Bellini et al.   JOURNAL OF PERINATAL MEDICINE

Microfluidics Digital PCR Reveals a Higher than Expected Fraction of Fetal DNA in Maternal Plasma

(2008) F. M. F. Lun et al.   CLINICAL CHEMISTRY