Associated Papers
Exonic Variation and Its Clinical Impact in 7221 Old Order Amish.
Mitchell BD et al.
American Journal of Medical Genetics. Part A, 2025
Report of a missense TJP2 variant associated to PFIC4 with a pronounced phenotypic variability: Focus on the structural effects on the protein level.
Khabou B et al.
Journal of Human Genetics, 2025
Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.
Lynch MT et al.
American Journal of Medical Genetics. Part A, 2022
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.
Kember RL et al.
Translational Psychiatry, 2018
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.
Boudellioua I et al.
Scientific Reports, 2018
modPDZpep: a web resource for structure based analysis of human PDZ-mediated interaction networks.
Sain N et al.
Biology Direct, 2016
Structural and functional hepatocyte polarity and liver disease.
Gissen P et al.
Journal of Hepatology, 2015
ZO-2, a tight junction scaffold protein involved in the regulation of cell proliferation and apoptosis.
Gonzalez-Mariscal L et al.
Annals of the New York Academy of Sciences, 2012
Do cell junction protein mutations cause an airway phenotype in mice or humans?
Chang EH et al.
American Journal of Respiratory Cell and Molecular Biology, 2011
Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.
Walsh T et al.
American Journal of Human Genetics, 2010
Genetics of familial intrahepatic cholestasis syndromes.
van Mil SW et al.
Journal of Medical Genetics, 2005
Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania.
Puffenberger EG
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2003
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.
Carlton VE et al.
Nature Genetics, 2003