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A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.
Hu H, Roach JC, Coon H, Guthery SL, Voelkerding KV, Margraf RL, Durtschi JD, Tavtigian SV, Shankaracharya, Wu W, Scheet P, Wang S, Xing J, Glusman G, Hubley R, Li H, Garg V, Moore B, Hood L, Galas DJ, Srivastava D, Reese MG, Jorde LB, Yandell M, Huff CD. Hu H, et al. Among authors: yandell m. Nat Biotechnol. 2014 Jul;32(7):663-9. doi: 10.1038/nbt.2895. Epub 2014 May 18. Nat Biotechnol. 2014. PMID: 24837662 Free PMC article.
Identifying rare variants for genetic risk through a combined pedigree and phenotype approach: application to suicide and asthma.
Darlington TM, Pimentel R, Smith K, Bakian AV, Jerominski L, Cardon J, Camp NJ, Callor WB, Grey T, Singleton M, Yandell M, Renshaw PF, Yurgelun-Todd DA, Gray D, Coon H. Darlington TM, et al. Among authors: yandell m. Transl Psychiatry. 2014 Oct 21;4(10):e471. doi: 10.1038/tp.2014.111. Transl Psychiatry. 2014. PMID: 25335167 Free PMC article.
Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency.
Gorsi B, Hernandez E, Moore MB, Moriwaki M, Chow CY, Coelho E, Taylor E, Lu C, Walker A, Touraine P, Nelson LM, Cooper AR, Mardis ER, Rajkovic A, Yandell M, Welt CK. Gorsi B, et al. Among authors: yandell m. J Clin Endocrinol Metab. 2022 Feb 17;107(3):685-714. doi: 10.1210/clinem/dgab775. J Clin Endocrinol Metab. 2022. PMID: 34718612 Free PMC article.
The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele.
Hateley S, Lopez-Izquierdo A, Jou CJ, Cho S, Schraiber JG, Song S, Maguire CT, Torres N, Riedel M, Bowles NE, Arrington CB, Kennedy BJ, Etheridge SP, Lai S, Pribble C, Meyers L, Lundahl D, Byrnes J, Granka JM, Kauffman CA, Lemmon G, Boyden S, Scott Watkins W, Karren MA, Knight S, Brent Muhlestein J, Carlquist JF, Anderson JL, Chahine KG, Shah KU, Ball CA, Benjamin IJ, Yandell M, Tristani-Firouzi M. Hateley S, et al. Among authors: yandell m. Nat Commun. 2021 Nov 8;12(1):6442. doi: 10.1038/s41467-021-26741-7. Nat Commun. 2021. PMID: 34750360 Free PMC article.
A dominant negative ADIPOQ mutation in a diabetic family with renal disease, hypoadiponectinemia, and hyperceramidemia.
Simeone CA, Wilkerson JL, Poss AM, Banks JA, Varre JV, Guevara JL, Hernandez EJ, Gorsi B, Atkinson DL, Turapov T, Frodsham SG, Morales JCF, O'Neil K, Moore B, Yandell M, Summers SA, Krolewski AS, Holland WL, Pezzolesi MG. Simeone CA, et al. Among authors: yandell m. NPJ Genom Med. 2022 Jul 22;7(1):43. doi: 10.1038/s41525-022-00314-z. NPJ Genom Med. 2022. PMID: 35869090 Free PMC article.
168 results