Bodian D - Search Results

1

Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project.

Kelly MA, Leader JB, Wain KE, Bodian D, Oetjens MT, Ledbetter DH, Martin CL, Strande NT. Kelly MA, et al. Among authors: bodian d. Am J Med Genet C Semin Med Genet. 2021 Mar;187(1):83-94. doi: 10.1002/ajmg.c.31887. Epub 2021 Feb 11. Am J Med Genet C Semin Med Genet. 2021. PMID: 33576083

2

Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes.

Deaton AM, Parker MM, Ward LD, Flynn-Carroll AO, BonDurant L, Hinkle G, Akbari P, Lotta LA; Regeneron Genetics Center; DiscovEHR Collaboration; Baras A, Nioi P. Deaton AM, et al. Sci Rep. 2021 Nov 3;11(1):21565. doi: 10.1038/s41598-021-99091-5. Sci Rep. 2021. PMID: 34732801 Free PMC article.

3

Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.

Praveen K, Dobbyn L, Gurski L, Ayer AH, Staples J, Mishra S, Bai Y, Kaufman A, Moscati A, Benner C, Chen E, Chen S, Popov A, Smith J; GHS-REGN DiscovEHR collaboration; Regeneron Genetics Center; Decibel-REGN collaboration; Melander O, Jones MB, Marchini J, Balasubramanian S, Zambrowicz B, Drummond MC, Baras A, Abecasis GR, Ferreira MA, Stahl EA, Coppola G. Praveen K, et al. Commun Biol. 2022 Jun 3;5(1):540. doi: 10.1038/s42003-022-03408-7. Commun Biol. 2022. PMID: 35661827 Free PMC article.

4

ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma.

Praveen K, Patel GC, Gurski L, Ayer AH, Persaud T, Still MD, Miloscio L, Van Zyl T, Di Gioia SA, Brumpton B, Krebs K, Åsvold BO, Chen E, Chavali VRM, Fury W, Gudiseva HV, Hyde S, Jorgenson E, Lefebvre S, Li D, Li A, Mclninch J, Patel B, Rabinowitz JS, Salowe R, Schurmann C, Seidelin AS, Stahl E, Sun D, Teslovich TM, Tybjærg-Hansen A, Willer C, Waldron S, Walley S, Yang H, Zaveri S; Regeneron Genetics Center; GHS-RGC DiscovEHR Collaboration; Estonian Biobank Research Team; Hu Y, Hveem K, Melander O, Milani L, Stender S, O'Brien JM, Jones MB, Abecasis GR, Cantor MN, Weyne J, Karalis K, Economides A, Della Gatta G, Ferreira MA, Yancopoulos GD, Baras A, Romano C, Coppola G. Praveen K, et al. Commun Biol. 2022 Oct 3;5(1):1051. doi: 10.1038/s42003-022-03932-6. Commun Biol. 2022. PMID: 36192519 Free PMC article.

5

GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms.

Ward LD, Tu HC, Quenneville CB, Tsour S, Flynn-Carroll AO, Parker MM, Deaton AM, Haslett PAJ, Lotta LA, Verweij N, Ferreira MAR; Regeneron Genetics Center; Geisinger-Regeneron DiscovEHR Collaboration; Baras A, Hinkle G, Nioi P. Ward LD, et al. Nat Commun. 2021 Jul 27;12(1):4571. doi: 10.1038/s41467-021-24563-1. Nat Commun. 2021. PMID: 34315874 Free PMC article.

6

Pitfalls of clinical exome and gene panel testing: alternative transcripts.

Bodian DL, Kothiyal P, Hauser NS. Bodian DL, et al. Genet Med. 2019 May;21(5):1240-1245. doi: 10.1038/s41436-018-0319-7. Epub 2018 Oct 8. Genet Med. 2019. PMID: 30293991 Free article.

7

Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.

Pavey AR, Bodian DL, Vilboux T, Khromykh A, Hauser NS, Huddleston K, Klein E, Black A, Kane MS, Iyer RK, Niederhuber JE, Solomon BD. Pavey AR, et al. Among authors: bodian dl. Genet Med. 2017 Dec;19(12):1367-1375. doi: 10.1038/gim.2017.57. Epub 2017 Jun 15. Genet Med. 2017. PMID: 28617419 Free article.

8

Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.

Solomon BD, Bodian DL, Khromykh A, Mora GG, Lanpher BC, Iyer RK, Baveja R, Vockley JG, Niederhuber JE. Solomon BD, et al. Among authors: bodian dl. Am J Med Genet A. 2015 May;167A(5):1111-6. doi: 10.1002/ajmg.a.36883. Epub 2015 Feb 25. Am J Med Genet A. 2015. PMID: 25712426

9

Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.

Hauser NS, Solomon BD, Vilboux T, Khromykh A, Baveja R, Bodian DL. Hauser NS, et al. Among authors: bodian dl. Mol Genet Genomic Med. 2018 Mar;6(2):200-212. doi: 10.1002/mgg3.357. Epub 2018 Jan 25. Mol Genet Genomic Med. 2018. PMID: 29368431 Free PMC article.

10

Mendelian Inconsistent Signatures from 1314 Ancestrally Diverse Family Trios Distinguish Biological Variation from Sequencing Error.

Kothiyal P, Wong WSW, Bodian DL, Niederhuber JE. Kothiyal P, et al. J Comput Biol. 2019 May;26(5):405-419. doi: 10.1089/cmb.2018.0253. Epub 2019 Apr 3. J Comput Biol. 2019. PMID: 30942611 Free PMC article.

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