Novel rapid molecular diagnosis of fetal chromosomal abnormalities associated with recurrent pregnancy loss

A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease

(2015) Xiaoqing Zhang et al.   BMC GENOMICS

Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes

(2015) Heidi Carmen Howard et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Traditional karyotypingvscopy number variation sequencing for detection of chromosomal abnormalities associated with spontaneous miscarriage

(2015) S. Liu et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Genomic variations of the mevalonate pathway in porokeratosis

(2015) Zhenghua Zhang et al.   eLife

Terminology for pregnancy loss prior to viability: a consensus statement from the ESHRE early pregnancy special interest group

(2014) A. M. Kolte et al.   HUMAN REPRODUCTION

Noninvasive Detection of Fetal Subchromosome Abnormalities via Deep Sequencing of Maternal Plasma

(2013) Anupama Srinivasan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Application of multiplex SNaPshot assay in measurement of PLAC4 RNA-SNP allelic ratio for noninvasive prenatal detection of trisomy 21

(2013) Lan Yang et al.   PRENATAL DIAGNOSIS

Genetics of early miscarriage

(2012) Merel M.J. van den Berg et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Cardiac Defects Are Infrequent Findings in Individuals With 8p23.1 Genomic Duplications Containing GATA4

(2011) Shihui Yu et al.   Circulation-Cardiovascular Genetics

Recurrent Miscarriage

(2010) D. Ware Branch et al.   NEW ENGLAND JOURNAL OF MEDICINE

Comparison of Multiplex Ligation-Dependent Probe Amplification and Karyotyping in Prenatal Diagnosis

(2010) Elisabeth M. Boormans et al.   OBSTETRICS AND GYNECOLOGY