Sulfotransferase signaling sustains fibroblast identity and antagonizes therapeutic cardiac reprogramming
Michaela R. Romero, Sean Murphy, Yu-Ling Chang, Aashna Lamba et autres
0 citationsNature Communications
Hudson H. Freeze
Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.
523Publications signalées
25575Citations signalées
2Affiliations récentes
Institutions déclarées
Domaines associés
Glycosylation and Glycoproteins ResearchCarbohydrate Chemistry and SynthesisGalectins and Cancer BiologyLysosomal Storage Disorders ResearchCellular transport and secretion
Publications récentes
Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation
Robert Wang, Feng Wang, Nicole DeBruyne, Xinjun Ji et autres
2 citationsScience Advances
A homozygous nonsense variant in the oligosaccharyltransferase complex gene, RPN1, causes a congenital disorder of glycosylation
Bobby G. Ng, Wenyue Zhang, Jennifer E. Neil, Marwa Danish et autres
1 citationHuman Genetics and Genomics Advances
SLC35A2 loss-of-function variants affect glycomic signatures, neuronal fate and network dynamics
Dulcie Lai, Paulina Sosicka, Damian J. Williams, MaryAnn E Bowyer et autres
10 citationsBrain
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation
Zain Dardas, Laura Harrold, Daniel G. Calame, Claire Salter et autres
7 citationsThe American Journal of Human Genetics
P325: The ClinGen Congenital Disorders of Glycosylation Gene Curation Expert Panel
Robin J. Larson, Raquel Fernández, Carlos Noronha Ferreira, Hudson H. Freeze et autres
0 citationsGenetics in Medicine Open
Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder
Bobby G. Ng, Erik A. Eklund, Jill A. Rosenfeld, Abdallah F. Elias et autres
1 citationGenetics in Medicine Open
SLC35A2 loss of function variants affect glycomic signatures, neuronal fate, and network dynamics
Dulcie Lai, Paulina Sosicka, Damian J. Williams, MaryAnn E Bowyer et autres
0 citationsbioRxiv (Cold Spring Harbor Laboratory)
Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism
Youn Hee Jee, Julian C. Lui, Dana Marafi, Zhi‐Jie Xia et autres
1 citationGenetics in Medicine Open
Developmental Glycobiology of Dictyostelium Discoideum
2 citations
7096 Variants in WASHC3, a component of the WASH complex, cause distinctive facial dysmorphism, short stature, and variable neurodevelopmental abnormalities
Youn Hee Jee, Julian C. Lui, Dana Marafi, Zhi‐Jie Xia et autres
0 citationsJournal of the Endocrine Society
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines
Rameen Shah, Erik A. Eklund, Silvia Radenkovic, Mustafa Sadek et autres
13 citationsMolecular Genetics and Metabolism
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