N. Baratang

发表

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

Denise L. Perry, J. Rosenfeld, R. Taft, 2018, American journal of human genetics.

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

Lisa T. Emrick, Ivan K. Chinn, Denise G. Lanza, 2019, American journal of human genetics.

Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders

Philippe M. Campeau, T. Nguyen, N. Baratang, 2018, Clinical genetics.

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ Report of seven new subjects and review of the literature

Undiagnosed Diseases Network, E. Eklund, Manuela Pendziwiat, 2020 .

Hot water epilepsy and SYN1 variants

A. Vignoli, Philippe M. Campeau, N. Baratang, 2018, Epilepsia.

Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures".

O. Mäkitie, C. Kim, K. Wierenga, 2019, Bone.

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

J. Rosenfeld, S. Ellard, F. Alkuraya, 2019, American journal of human genetics.

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

V. Sutton, M. Tartaglia, R. Pauli, 2017, American journal of human genetics.

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

B. Reversade, N. Baratang, G. Cagnone, 2022, Stem cell reports.

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

Kiely N. James, J. Rosenfeld, Alison M. Male, 2020, American journal of human genetics.

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature

Rebecca C. Spillmann, Undiagnosed Diseases Network, E. Eklund, 2020, Journal of inherited metabolic disease.

Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants

Philippe M. Campeau, T. Nguyen, N. Baratang, 2019, Molecular genetics & genomic medicine.

Leveraging complex interactions between signaling pathways involved in liver development to robustly improve the maturity and yield of pluripotent stem cell-derived hepatocytes

B. Reversade, N. Baratang, G. Cagnone, 2020, bioRxiv.

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

V. Sutton, M. Tartaglia, R. Pauli, 2017, American journal of human genetics.