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Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.
Vetrini F, D'Alessandro LC, Akdemir ZC, Braxton A, Azamian MS, Eldomery MK, Miller K, Kois C, Sack V, Shur N, Rijhsinghani A, Chandarana J, Ding Y, Holtzman J, Jhangiani SN, Muzny DM, Gibbs RA, Eng CM, Hanchard NA, Harel T, Rosenfeld JA, Belmont JW, Lupski JR, Yang Y. Vetrini F, et al. Among authors: sack v. Am J Hum Genet. 2016 Oct 6;99(4):886-893. doi: 10.1016/j.ajhg.2016.07.011. Epub 2016 Sep 8. Am J Hum Genet. 2016. PMID: 27616478 Free PMC article.
Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy.
Kay DM, Stevens CF, Parker A, Saavedra-Matiz CA, Sack V, Chung WK, Chiriboga CA, Engelstad K, Laureta E, Farooq O, Ciafaloni E, Lee BH, Malek S, Treidler S, Anziska Y, Delfiner L, Sakonju A, Caggana M. Kay DM, et al. Among authors: sack v. Genet Med. 2020 Aug;22(8):1296-1302. doi: 10.1038/s41436-020-0824-3. Epub 2020 May 18. Genet Med. 2020. PMID: 32418989 Free article.
Triglyceride Lowering with Pemafibrate to Reduce Cardiovascular Risk.
Das Pradhan A, Glynn RJ, Fruchart JC, MacFadyen JG, Zaharris ES, Everett BM, Campbell SE, Oshima R, Amarenco P, Blom DJ, Brinton EA, Eckel RH, Elam MB, Felicio JS, Ginsberg HN, Goudev A, Ishibashi S, Joseph J, Kodama T, Koenig W, Leiter LA, Lorenzatti AJ, Mankovsky B, Marx N, Nordestgaard BG, Páll D, Ray KK, Santos RD, Soran H, Susekov A, Tendera M, Yokote K, Paynter NP, Buring JE, Libby P, Ridker PM; PROMINENT Investigators. Das Pradhan A, et al. N Engl J Med. 2022 Nov 24;387(21):1923-1934. doi: 10.1056/NEJMoa2210645. Epub 2022 Nov 5. N Engl J Med. 2022. PMID: 36342113 Clinical Trial.