Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Molecular Modeling of Pathogenic Mutations in the Keratin 1B Domain.
Hinbest AJ et al.
International Journal of Molecular Sciences, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
29795570 (PubMed )
Supplement: pgen.1007329.s012.xlsx › Data_File_S3
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
A probabilistic model to predict clinical phenotypic traits from genome sequencing.
Chen YC et al.
Plos Computational Biology, 2014
25188385 (PubMed )
Supplement: pcbi.1003825.s014.xlsx › TableS12
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
25333069 (PubMed )
Supplement: mgg30002-0438-SD2.pdf
Keratin 8 variants are associated with cryptogenic hepatitis.
Zierden M et al.
Virchows Archiv : an International Journal of Pathology, 2012
Keratin variants predispose to acute liver failure and adverse outcome: race and ethnic associations.
Strnad P et al.
Gastroenterology, 2010
Toward unraveling the complexity of simple epithelial keratins in human disease.
Omary MB et al.
The Journal of Clinical Investigation, 2009
A mutation of keratin 18 within the coil 1A consensus motif causes widespread keratin aggregation but cell type-restricted lethality in mice.
Hesse M et al.
Experimental Cell Research, 2007
Keratin mutations and intestinal pathology.
Owens DW et al.
The Journal of Pathology, 2004
Select a paper to view details