Prenatal exome sequencing for fetuses with structural abnormalities: the next step

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

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

Molecular Screening for 22Q11.2 Deletion Syndrome in Patients With Congenital Heart Disease

(2014) Janaína Huber et al.   PEDIATRIC CARDIOLOGY

Empirical research on the ethics of genomic research

(2013) Anna Middleton et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2013) I. Filges 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

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

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

Committee Opinion No. 581

(2013)   OBSTETRICS AND GYNECOLOGY

Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis

(2013) S. C. Hillman et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

The Role and Challenges of Exome Sequencing in Studies of Human Diseases

(2013) Zuoheng Wang et al.   Frontiers in Genetics

Women’s experiences receiving abnormal prenatal chromosomal microarray testing results

(2012) Barbara A. Bernhardt et al.   GENETICS IN MEDICINE

Novel Mutations Including Deletions of the EntireOFD1Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

(2012) Izak J. Bisschoff et al.   HUMAN MUTATION

Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

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

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

(2012) Ronald J. Wapner et al.   NEW ENGLAND JOURNAL OF MEDICINE

The trisomy 18 syndrome

(2012) Anna Cereda et al.   Orphanet Journal of Rare Diseases

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

The Human Phenotype Ontology

(2010) PN Robinson et al.   CLINICAL GENETICS

Renal Aplasia in Humans Is Associated with RET Mutations

(2008) Michael A. Skinner et al.   AMERICAN JOURNAL OF HUMAN GENETICS