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The Journal of Clinical Endocrinology and Metabolism|March 20, 1999
Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mappingS Pannain, R E Weiss, C E Jackson, et al.
Gigascience|April 21, 2021
Chromatin conformation capture (Hi-C) sequencing of patient-derived xenografts: analysis guidelinesMikhail G Dozmorov, Katarzyna M Tyc, Nathan C Sheffield, et al.
NAR Genomics and Bioinformatics|July 8, 2024
Fast clustering and cell-type annotation of scATAC data using pre-trained embeddingsNathan J LeRoy, Jason P Smith, Guangtao Zheng, et al.
American Journal of Physical Anthropology|December 5, 1997
Usher syndrome in the Samaritans: strengths and limitations of using inbred isolated populations to identify genes causing recessive disordersB Bonné-Tamir, A Nystuen, E Seroussi, et al.
Health Affairs (Project Hope)|July 7, 2025
Obstetric Care Access Declined In Rural And Urban Hospitals Across US States, 2010-22Katy Backes Kozhimannil, Julia D Interrante, Caitlin Carroll, et al.
Cell Reports|February 24, 2015
Epigenome mapping reveals distinct modes of gene regulation and widespread enhancer reprogramming by the oncogenic fusion protein EWS-FLI1Eleni M Tomazou, Nathan C Sheffield, Christian Schmidl, et al.
Ophthalmology|September 5, 2012
Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testingEdwin M Stone, Anthony J Aldave, Arlene V Drack, et al.
Genome Research|September 1, 1996
Fine mapping of the autosomal dominant juvenile open angle glaucoma (GLC1A) region and evaluation of candidate genesS L Sunden, W L Alward, B E Nichols, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 29, 2015
Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndromePoppy Datta, Chantal Allamargot, Joseph S Hudson, et al.
JCI Insight|February 4, 2021
Autophagy stimulation reduces ocular hypertension in a murine glaucoma model via autophagic degradation of mutant myocilinRamesh B Kasetti, Prabhavathi Maddineni, Charles Kiehlbauch, et al.
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