Associated Papers
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
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.
Scott CA et al.
Plos Genetics, 2017
Polydactyly: how many disorders and how many genes? 2010 update.
Biesecker LG
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2011
MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.
Hirayama S et al.
Molecular Biology of the Cell, 2008
No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome.
Nakane T et al.
American Journal of Medical Genetics. Part A, 2005
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.
Fath MA et al.
Human Molecular 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
Polydactyly: how many disorders and how many genes?
Biesecker LG
American Journal of Medical Genetics, 2002
Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.
Slavotinek AM et al.
Human Genetics, 2002
Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.
Beales PL et al.
American Journal of Human Genetics, 2001
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.
Katsanis N et al.
Nature Genetics, 2000
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.
Stone DL et al.
Nature Genetics, 2000
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.
Schaefer E et al.
European Journal of Medical Genetics, 0