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Medrxiv : the Preprint Server for Health Sciences|November 24, 2025
Constellation illuminates rare disease geneticsSiyuan Cheng, Qing Zhang, Xinchang Zheng, et al.
Nature Communications|March 2, 2018
Sheep genome functional annotation reveals proximal regulatory elements contributed to the evolution of modern breedsMarina Naval-Sanchez, Quan Nguyen, Sean McWilliam, et al.
American Journal of Human Genetics|July 8, 2017
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival FibromatosisYavuz Bayram, Janson J White, Nursel Elcioglu, et al.
Molecular Genetics & Genomic Medicine|November 30, 2016
A potential founder variant in <i>CARMIL2/RLTPR</i> in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunctionHanne S Sorte, Liv T Osnes, Børre Fevang, et al.
The Journal of Clinical Endocrinology and Metabolism|March 17, 2015
Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadismYavuz Bayram, Suleyman Gulsuner, Tulay Guran, et al.
Gigascience|February 15, 2022
Fully resolved assembly of Cryptosporidium parvumVipin K Menon, Pablo C Okhuysen, Cynthia L Chappell, et al.
Human Mutation|September 2, 2022
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanismVaruna Chander, Medhat Mahmoud, Jianhong Hu, et al.
BMC Biology|November 18, 2017
Hybrid de novo genome assembly and centromere characterization of the gray mouse lemur (Microcebus murinus)Peter A Larsen, R Alan Harris, Yue Liu, et al.
Circulation. Cardiovascular Genetics|June 22, 2014
Sequence variation in TMEM18 in association with body mass index: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing StudyChing-Ti Liu, Kristin L Young, Jennifer A Brody, et al.
The New England Journal of Medicine|December 14, 2016
Resolution of Disease Phenotypes Resulting from Multilocus Genomic VariationJennifer E Posey, Tamar Harel, Pengfei Liu, et al.
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