One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR

The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans

(2017) Ah Kim et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Discovery of MYH14 as an important and unique deafness gene causing prelingually severe autosomal dominant nonsyndromic hearing loss

(2017) Bong Jik Kim et al.   JOURNAL OF GENE MEDICINE

Development and validation of a fetal genotyping assay with potential for noninvasive prenatal diagnosis of hereditary hearing loss

(2016) Ying Chen et al.   PRENATAL DIAGNOSIS

Establishment of a Flexible Real-Time Polymerase Chain Reaction-Based Platform for Detecting Prevalent Deafness Mutations Associated with Variable Degree of Sensorineural Hearing Loss in Koreans

(2016) Kyu-Hee Han et al.   PLoS One

Noninvasive Prenatal Diagnosis of Duchenne Muscular Dystrophy: Comprehensive Genetic Diagnosis in Carrier, Proband, and Fetus

(2015) S.-K. Yoo et al.   CLINICAL CHEMISTRY

Cell-free DNA Analysis for Noninvasive Examination of Trisomy

(2015) Mary E. Norton et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Non-Invasive Droplet Digital PCR (ddPCR) Assay to Detect Paternal CFTR Mutations in the Cell-Free Fetal DNA (cffDNA) of Three Pregnancies at Risk of Cystic Fibrosis via Compound Heterozygosity

(2015) Emmanuel Debrand et al.   PLoS One

Noninvasive prenatal testing for autosomal recessive conditions by maternal plasma sequencing in a case of congenital deafness

(2014) Meng Meng et al.   GENETICS IN MEDICINE

Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma

(2014) Maria I. New et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Noninvasive Prenatal Diagnosis of Monogenic Diseases by Targeted Massively Parallel Sequencing of Maternal Plasma: Application to  -Thalassemia

(2012) K.-W. G. Lam et al.   CLINICAL CHEMISTRY

Digital PCR Analysis of Maternal Plasma for Noninvasive Detection of Sickle Cell Anemia

(2012) A. N. Barrett et al.   CLINICAL CHEMISTRY

Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA

(2011) N. B. Y. Tsui et al.   BLOOD

Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform

(2011) B. C. Lim et al.   JOURNAL OF MEDICAL GENETICS

Targeted Massively Parallel Sequencing of Maternal Plasma DNA Permits Efficient and Unbiased Detection of Fetal Alleles

(2010) G. J. W. Liao et al.   CLINICAL CHEMISTRY

New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma

(2010) L. S. Chitty et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Noninvasive prenatal diagnosis of early onset primary dystonia I in maternal plasma

(2009) Cathy Meaney et al.   PRENATAL DIAGNOSIS

Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening

(2007) Cai-Xia Li et al.   HUMAN MUTATION