Nissan Baratang

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy

Thi Tuyet Mai Nguyen, Yoshiko Murakami, Kristen Wigby et al. · The American Journal of Human Genetics · 2018 · 59 citations · Full text

Epileptic Encephalopathy, Neurological Syndrome, Genetic Disorder +9

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”

Chae Syng Lee, He Fu, Nissan Baratang et al. · The American Journal of Human Genetics · 2017 · 58 citations · Full text

Genetics, Pathology, Fibronectin Cause +3

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

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

Thi Tuyet Mai Nguyen, Yoshiko Murakami, Sabrina Mobilio et al. · The American Journal of Human Genetics · 2020 · 39 citations · Full text

Neurodevelopmental Syndrome, Cerebellar Atrophy, Developmental Biology +10

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Lindsay C. Burrage, John J. Reynolds, Nissan Baratang et al. · The American Journal of Human Genetics · 2019 · 34 citations · Full text

Allelic Variant, Genetic Disorder, Genetics +8