The potential impact of implementation of expanded carrier screening on pediatric patient diagnoses: A retrospective chart review of patients who receive care in an outpatient genetics clinic in the northeast

Challenges in providing residual risks in carrier testing

(2021) Robert Luke Nussbaum et al.   PRENATAL DIAGNOSIS

Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen

(2019) Kyle A. Beauchamp et al.   GENETICS IN MEDICINE

The Missing Diversity in Human Genetic Studies

(2019) Giorgio Sirugo et al.   CELL

Clinical utility of expanded carrier screening: results-guided actionability and outcomes

(2018) Katherine A. Johansen Taber et al.   GENETICS IN MEDICINE

Carrier screening by next-generation sequencing: health benefits and cost effectiveness

(2016) Mohammad Azimi et al.   Molecular Genetics & Genomic Medicine

Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics

(2015)   GENETICS IN MEDICINE

Expanded Carrier Screening in Reproductive Medicine—Points to Consider

(2015) Janice G. Edwards et al.   OBSTETRICS AND GYNECOLOGY

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience

(2015) C. Alexander Valencia et al.   Frontiers in Pediatrics

Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research

(2013) Liane Ioannou et al.   GENETICS IN MEDICINE

Patenting the PKU Test — Federally Funded Research and Intellectual Property

(2013) Diane B. Paul et al.   NEW ENGLAND JOURNAL OF MEDICINE

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals

(2012) Gabriel A. Lazarin et al.   GENETICS IN MEDICINE

Dialogues on Diversifying Clinical Trials: Successful Strategies for Engaging Women and Minorities in Clinical Trials

(2012) Meghan Coakley et al.   JOURNAL OF WOMENS HEALTH

Barriers to the use of genetic testing: A study of racial and ethnic disparities

(2009) Sandra Suther et al.   GENETICS IN MEDICINE