Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice

Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children’s Hospital Gene Partnership Informed Cohort Oversight Board

(2014) Ingrid A. Holm et al.   GENETICS IN MEDICINE

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

Genetic Counselors’ Views and Experiences with the Clinical Integration of Genome Sequencing

(2014) Kalotina Machini et al.   Journal of Genetic Counseling

Exome sequencing for gene discovery in lethal fetal disorders - harnessing the value of extreme phenotypes

(2014) Isabel Filges et al.   PRENATAL DIAGNOSIS

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

(2014) S.C. Hillman et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

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

(2013) I. Filges et al.   CLINICAL GENETICS

ACMG clinical laboratory standards for next-generation sequencing

(2013) Heidi L. Rehm et al.   GENETICS IN MEDICINE

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

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

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

Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

(2012) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Increased nuchal translucency in the presence of normal chromosomes

(2012) Christina M.L. Alamillo et al.   CURRENT OPINION IN OBSTETRICS & GYNECOLOGY

Points to consider in the clinical application of genomic sequencing

(2012)   GENETICS IN MEDICINE

Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

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

Genetic assessment following increased nuchal translucency and normal karyotype

(2011) Eugene Pergament et al.   PRENATAL DIAGNOSIS

Including prenatal diagnoses in birth defects monitoring: Experience of the Metropolitan Atlanta Congenital Defects Program

(2008) Janet D. Cragan et al.   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY