The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing

(2016) Diana Mandelker et al.   GENETICS IN MEDICINE

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine

(2016) Anna Abulí et al.   HUMAN MUTATION

Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening

(2016) Imran S. Haque et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project

(2015) Jessica L. Larson et al.   BMC Medical Genetics

Evaluation of high throughput gene expression platforms using a genomic biomarker signature for prediction of skin sensitization

(2014) Andy Forreryd et al.   BMC GENOMICS

Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort

(2014) Kyle Retterer et al.   GENETICS IN MEDICINE

Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing

(2014) Yanming Feng et al.   GENETICS IN MEDICINE

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

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

Validation for Clinical Use of, and Initial Clinical Experience with, a Novel Approach to Population-Based Carrier Screening using High-Throughput, Next-Generation DNA Sequencing

(2014) Stephanie Hallam et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

SMA carrier testing: a meta-analysis of differences in test performance by ethnic group

(2014) William Kim MacDonald et al.   PRENATAL DIAGNOSIS

An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy

(2013) Minjie Luo 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

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

(2011) Elaine A Sugarman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population

(2010) Zhu Sheng-Yuan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Differences in SMN1 allele frequencies among ethnic groups within North America

(2009) B C Hendrickson et al.   JOURNAL OF MEDICAL GENETICS

Carrier screening for spinal muscular atrophy

(2008) Thomas W Prior   GENETICS IN MEDICINE