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36 results

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Page 1
Data-driven consideration of genetic disorders for global genomic newborn screening programs.
Minten T, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Ferlini A, Kirschner J, Russell BE, Servais L, Sund KL, Taft RJ, Tsipouras P, Zouk H; ICoNS Gene List Contributors; Bick D; International Consortium on Newborn Sequencing (ICoNS); Green RC, Gold NB. Minten T, et al. Among authors: sund kl. medRxiv [Preprint]. 2025 Mar 25:2024.03.24.24304797. doi: 10.1101/2024.03.24.24304797. medRxiv. 2025. Update in: Genet Med. 2025 Jul;27(7):101443. doi: 10.1016/j.gim.2025.101443. PMID: 38585998 Free PMC article. Updated. Preprint.
Data-driven consideration of genetic disorders for global genomic newborn screening programs.
Minten T, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Ferlini A, Kirschner J, Russell BE, Servais L, Sund KL, Taft RJ, Tsipouras P, Zouk H; ICoNS Gene List Contributors; Bick D; International Consortium on Newborn Sequencing (ICoNS); Green RC, Gold NB. Minten T, et al. Among authors: sund kl. Genet Med. 2025 Jul;27(7):101443. doi: 10.1016/j.gim.2025.101443. Epub 2025 May 9. Genet Med. 2025. PMID: 40357684
Looking down the atrioventricular canal.
Benson DW, Sund KL. Benson DW, et al. Among authors: sund kl. Cardiovasc Res. 2010 Nov 1;88(2):205-6. doi: 10.1093/cvr/cvq302. Epub 2010 Sep 20. Cardiovasc Res. 2010. PMID: 20855523 Free PMC article. No abstract available.
Using human sequencing to guide craniofacial research.
Liegel RP, Finnerty E, Blizzard L, DiStasio A, Hufnagel RB, Saal HM, Sund KL, Prows CA, Stottmann RW. Liegel RP, et al. Among authors: sund kl. Genesis. 2019 Jan;57(1):e23259. doi: 10.1002/dvg.23259. Epub 2018 Dec 21. Genesis. 2019. PMID: 30375152 Free PMC article.
Carcinogenicity of dioxin.
Carlo GL, Sund KG. Carlo GL, et al. Among authors: sund kg. Lancet. 1991 Nov 30;338(8779):1393. doi: 10.1016/0140-6736(91)92268-7. Lancet. 1991. PMID: 1682754 No abstract available.
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schüle R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Németh AH, Carelli V, Huang T, Zuchner S, Dallman JE. Abrams AJ, et al. Among authors: sund kl. Nat Genet. 2015 Aug;47(8):926-32. doi: 10.1038/ng.3354. Epub 2015 Jul 13. Nat Genet. 2015. PMID: 26168012 Free PMC article.
36 results