Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test

Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese

(2021) Chun-Yu Wei et al.   npj Genomic Medicine

Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project

(2021) Monica H. Wojcik et al.   GENETICS IN MEDICINE

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Challenging the Current Recommendations for Carrier Testing in Children

(2019) Grace E. VanNoy et al.   PEDIATRICS

Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2

(2019) Yoshiyuki Okano et al.   MOLECULAR GENETICS AND METABOLISM

Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency

(2019) Yiming Lin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

High-Throughput and Rapid Melting Curve Analysis

(2018) Yan-Long Hou et al.   Clinical Laboratory

Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing

(2016) Takao Togawa et al.   JOURNAL OF PEDIATRICS

Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests

(2013) Li-Yun Wang et al.   BMC Medical Genetics

A Systematic Review of the Effects of Disclosing Carrier Results Generated Through Newborn Screening

(2008) R. Z. Hayeems et al.   Journal of Genetic Counseling