Haplotype-based approach for noninvasive prenatal diagnosis of congenital adrenal hyperplasia by maternal plasma DNA sequencing

Presence of fetal DNA in maternal plasma and serum

Yuk Ming Dennis Lo, Noemi Corbetta, P. Chamberlain et al. · The Lancet · 1997 · 3K citations

Fetal Medicine, Fetal Dna, Gynecology +4

A Unified Approach to Genotype Imputation and Haplotype-Phase Inference for Large Data Sets of Trios and Unrelated Individuals

Brian L. Browning, Sharon R. Browning · The American Journal of Human Genetics · 2009 · 1.7K citations · Full text

Genome-wide Association Study, Genetic Analysis, Haplotype Determination +15

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline

Phyllis Speiser, Ricardo Azziz, Laurence S. Baskin et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 1.5K citations · Full text

Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus

Yuk Ming Dennis Lo, K.C. Allen Chan, Hao Sun et al. · Science Translational Medicine · 2010 · 1.1K citations

Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Perrin C. White · Endocrine Reviews · 2000 · 876 citations

Adrenal Gland, Urology, Congenital Adrenal Hyperplasia +3