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
The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes-A Comprehensive Study of the GJB2/DFNB1 Region.
Safka Brozkova D et al.
Genes, 2021
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
31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.
Kember RL et al.
Translational Psychiatry, 2018
30315151 (PubMed )
Supplement: 41398_2018_226_MOESM2_ESM.xlsx › Supplemental_Table_5
A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family.
Salime S et al.
Gene, 2018
A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans.
Morlet T et al.
The Laryngoscope, 2014
SLITRK6 mutations cause myopia and deafness in humans and mice.
Tekin M et al.
The Journal of Clinical Investigation, 2013
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