Thi Tuyet Mai Nguyen

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

Fanny Kortüm, Viviana Caputo, Christiane K. Bauer et al. · Nature Genetics · 2015 · 214 citations · Full text

Molecular Physiology, Mendelian Disorder, Genetic Disorder +6

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

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Keren Machol, Justine Rousseau, Sophie Ehresmann et al. · The American Journal of Human Genetics · 2018 · 88 citations · Full text

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