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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, Del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL; Undiagnosed Diseases Network Members; Goldstein DB, Shashi V. Pena LDM, et al. Genet Med. 2018 Apr;20(4):464-469. doi: 10.1038/gim.2017.128. Epub 2017 Sep 14. Genet Med. 2018. PMID: 28914269 Free PMC article.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center; Undiagnosed Diseases Network; Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. Schoch K, et al. Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132692 Free PMC article.
Two mosquito salivary antigens demonstrate promise as biomarkers of recent exposure to P. falciparum infected mosquito bites.
Lapidus S, Goheen MM, Sy M, Deme AB, Ndiaye IM, Diedhiou Y, Mbaye AM, Hagadorn KA, Sene SD, Pouye MN, Thiam LG, Ba A, Guerra N, Mbengue A, Raduwan H, Gagnon J, Vigan-Womas I, Parikh S, Ko AI, Ndiaye D, Fikrig E, Chuang YM, Bei AK. Lapidus S, et al. Among authors: goheen mm. J Infect Dis. 2024 Oct 30:jiae525. doi: 10.1093/infdis/jiae525. Online ahead of print. J Infect Dis. 2024. PMID: 39475423
Two mosquito salivary antigens demonstrate promise as biomarkers of recent exposure to P. falciparum infected mosquito bites.
Lapidus S, Goheen MM, Sy M, Deme AB, Ndiaye IM, Diedhiou Y, Mbaye AM, Hagadorn KA, Sene SD, Pouye MN, Thiam LG, Ba A, Guerra N, Mbengue A, Raduwan H, Vigan-Womas I, Parikh S, Ko AI, Ndiaye D, Fikrig E, Chuang YM, Bei AK. Lapidus S, et al. Among authors: goheen mm. medRxiv [Preprint]. 2024 Apr 22:2024.04.20.24305430. doi: 10.1101/2024.04.20.24305430. medRxiv. 2024. Update in: J Infect Dis. 2024 Oct 30:jiae525. doi: 10.1093/infdis/jiae525 PMID: 38712295 Free PMC article. Updated. Preprint.
Growing Up COVID.
Goheen MM. Goheen MM. Clin Infect Dis. 2024 Mar 20;78(3):496-498. doi: 10.1093/cid/ciad563. Clin Infect Dis. 2024. PMID: 37791956 Free PMC article. No abstract available.
Hepcidin-guided screen-and-treat interventions for young children with iron-deficiency anaemia in The Gambia: an individually randomised, three-arm, double-blind, controlled, proof-of-concept, non-inferiority trial.
Wegmüller R, Bah A, Kendall L, Goheen MM, Sanyang S, Danso E, Sise EA, Jallow A, Verhoef H, Jallow MW, Wathuo M, Armitage AE, Drakesmith H, Pasricha SR, Cross JH, Cerami C, Prentice AM. Wegmüller R, et al. Among authors: goheen mm. Lancet Glob Health. 2023 Jan;11(1):e105-e116. doi: 10.1016/S2214-109X(22)00449-1. Lancet Glob Health. 2023. PMID: 36521942 Free PMC article. Clinical Trial.
81 results