Sandra Peacock

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA

Jinglan Zhang, Jianli Li, Jennifer Saucier et al. · Nature Medicine · 2019 · 265 citations

Life Sciences, Genetics, Molecular Genetics +16

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Claudia M.B. Carvalho, Feng Zhang, Pengfei Liu et al. · Human Molecular Genetics · 2009 · 197 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory

Andrea Petersen, Sau Wai Cheung, Janice Smith et al. · American Journal of Obstetrics and Gynecology · 2017 · 179 citations · Full text

Medicine, Maternal Health, Obstetrics +16

Clinical experience with non‐invasive prenatal screening for single‐gene disorders

Pooja Mohan, Jean Lemoine, Cindy Trotter et al. · Ultrasound in Obstetrics and Gynecology · 2021 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

Bo Yuan, Lei Wang, Pengfei Liu et al. · Genetics in Medicine · 2020 · 68 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5