Sirinart Molidperee

Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1

Norbert Fonya Ajeawung, Thi Tuyet Mai Nguyen, Linchao Lu et al. · The American Journal of Human Genetics · 2019 · 66 citations · Full text

Life Sciences, Genetics, Molecular Biology +11

Adolescent idiopathic scoliosis associated POC5 mutation impairs cell cycle, cilia length and centrosome protein interactions

Amani Hassan, Stefan Parent, Hélène Mathieu et al. · PLoS ONE · 2019 · 38 citations · Full text

Life Sciences, Cell Biology, Genetics +17

A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

Bettina E. Mucha, Siddharth Banka, Norbert Fonya Ajeawung et al. · Genetics in Medicine · 2018 · 35 citations · Full text

Medicine, Genetics, Molecular Genetics +14

DOORS syndrome and a recurrent truncating ATP6V1B2 variant

Éliane Beauregard‐Lacroix, G. Pacheco-Cuellar, Norbert Fonya Ajeawung et al. · Genetics in Medicine · 2020 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails

Ariana Kariminejad, Norbert Fonya Ajeawung, Bita Bozorgmehr et al. · Journal of Human Genetics · 2016 · 18 citations · Full text

Medicine, Craniofacial Biology, Craniofacial Genetics +11