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, +16

The American Journal of Human Genetics

Epileptic EncephalopathyNeurological SyndromeGenetic DisorderGeneticsInherited Metabolic Disease +7

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

Chae Syng Lee, He Fu, Nissan Baratang, +30

The American Journal of Human Genetics

GeneticsPathologyFibronectin CauseSpondylometaphyseal DysplasiaMedicine +1

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, +42

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderMedicineGeneticsInherited Metabolic Disease +8

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, +35

The American Journal of Human Genetics

Neurodevelopmental SyndromeCerebellar AtrophyDevelopmental BiologyAllelic VariantMendelian Disorder +8

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

Lindsay C. Burrage, John J. Reynolds, Nissan Baratang, +255

The American Journal of Human Genetics

Allelic VariantGenetic DisorderGeneticsBi-allelic VariantsPathology +6

Leveraging interacting signaling pathways to robustly improve the quality and yield of human pluripotent stem cell-derived hepatoblasts and hepatocytes

Claudia Raggi, Marie-Agnès M’Callum, Quang Toan Pham, +8

Stem Cell Reports

Organ DevelopmentCholangiopathiesInduced PscStem CellsCell Signaling +17

Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures”

Alice Costantini, Helena Valta, Nissan Baratang, +16

Bone

GeneticsPathologySpondylometaphyseal DysplasiaMedicine“ Corner Fractures +2

A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder

Miles D. Thompson, Alexej Knaus, Bruce A. Barshop, +11

European Journal of Medical Genetics

Mendelian DisorderAutoimmune DiseaseGenetic DisorderPost GlycosylphosphatidylinositolGenetics +10

Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants

Nissan Baratang, Daniel Alexander Jimenez Cruz, Norbert Fonya Ajeawung, +3

Molecular Genetics & Genomic Medicine