Nithiwat Vatanavicharn

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Daniela A. Braun, Jia Rao, Géraldine Mollet et al. · Nature Genetics · 2017 · 212 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +5

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

Sheila Unger, Ekkehart Lausch, Antonio Rossi et al. · American Journal of Medical Genetics Part A · 2010 · 80 citations

Principal Diagnostic Features, Developmental Anomaly, Larsen Syndrome +15

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

Anika Wehrle, Tomasz M. Witkos, Sheila Unger et al. · JCI Insight · 2019 · 77 citations · Full text

Genetics, Molecular Genetics, Cytoskeleton +16

BMPER Mutation in Diaphanospondylodysostosis Identified by Ancestral Autozygosity Mapping and Targeted High-Throughput Sequencing

Vincent Funari, Deborah Krakow, Lisette Nevarez et al. · The American Journal of Human Genetics · 2010 · 36 citations · Full text

Ancestral Autozygosity Mapping, Genetic Disorder, Genetics +11

An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand

Kittiphong Thiboonboon, Pattara Leelahavarong, Duangrurdee Wattanasirichaigoon et al. · PLoS ONE · 2015 · 32 citations · Full text