Norbert Fonya Ajeawung

<i>TBC1D24</i> genotype–phenotype correlation

Simona Balestrini, Mathieu Milh, Claudia Castiglioni et al. · Neurology · 2016 · 126 citations · Full text

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

Kezhi Yan, Justine Rousseau, Rebecca O. Littlejohn et al. · The American Journal of Human Genetics · 2016 · 102 citations · Full text

Chromatin, Genome Instability, Chromatin Structure +12

Mutations in GPAA1 , Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

Thi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan et al. · The American Journal of Human Genetics · 2017 · 64 citations · Full text

Cerebellar Atrophy, Mendelian Disorder, Genetic Disorder +8

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 · 64 citations · Full text

Scaffold Subunit, Mendelian Disorder, Genetic Disorder +6

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

Yoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Baratang et al. · The American Journal of Human Genetics · 2019 · 51 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +10