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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 2
2004 2
2005 2
2006 2
2007 4
2008 1
2009 3
2010 2
2011 2
2012 2
2013 4
2015 7
2016 6
2017 3
2018 3
2019 7
2020 4
2021 8
2022 4
2023 3
2024 2

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64 results

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Page 1
Isolated Methylmalonic Acidemia.
Manoli I, Sloan JL, Venditti CP. Manoli I, et al. 2005 Aug 16 [updated 2022 Sep 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2005 Aug 16 [updated 2022 Sep 8]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301409 Free Books & Documents. Review.
STAC3 Disorder.
Webb BD, Manoli I, Jabs EW. Webb BD, et al. Among authors: manoli i. 2019 Jun 20. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2019 Jun 20. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 31219695 Free Books & Documents. Review.
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
Tenney AP, Di Gioia SA, Webb BD, Chan WM, de Boer E, Garnai SJ, Barry BJ, Ray T, Kosicki M, Robson CD, Zhang Z, Collins TE, Gelber A, Pratt BM, Fujiwara Y, Varshney A, Lek M, Warburton PE, Van Ryzin C, Lehky TJ, Zalewski C, King KA, Brewer CC, Thurm A, Snow J, Facio FM, Narisu N, Bonnycastle LL, Swift A, Chines PS, Bell JL, Mohan S, Whitman MC, Staffieri SE, Elder JE, Demer JL, Torres A, Rachid E, Al-Haddad C, Boustany RM, Mackey DA, Brady AF, Fenollar-Cortés M, Fradin M, Kleefstra T, Padberg GW, Raskin S, Sato MT, Orkin SH, Parker SCJ, Hadlock TA, Vissers LELM, van Bokhoven H, Jabs EW, Collins FS, Pennacchio LA, Manoli I, Engle EC. Tenney AP, et al. Among authors: manoli i. Nat Genet. 2023 Jul;55(7):1149-1163. doi: 10.1038/s41588-023-01424-9. Epub 2023 Jun 29. Nat Genet. 2023. PMID: 37386251 Free PMC article.
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program.
Montano C, Cassini T, Ziegler SG, Boehm M, Nicoli ER, Mindell JA, Soldatos AG, Manoli I, Wolfe L, Macnamara EF, Malicdan MCV, Adams DR, Tifft CJ, Toro C, Gahl WA. Montano C, et al. Among authors: manoli i. J Inherit Metab Dis. 2022 Sep;45(5):907-918. doi: 10.1002/jimd.12506. Epub 2022 May 16. J Inherit Metab Dis. 2022. PMID: 35490291 Review.
Chronic kidney disease in propionic acidemia.
Shchelochkov OA, Manoli I, Sloan JL, Ferry S, Pass A, Van Ryzin C, Myles J, Schoenfeld M, McGuire P, Rosing DR, Levin MD, Kopp JB, Venditti CP. Shchelochkov OA, et al. Among authors: manoli i. Genet Med. 2019 Dec;21(12):2830-2835. doi: 10.1038/s41436-019-0593-z. Epub 2019 Jun 28. Genet Med. 2019. PMID: 31249402 Free PMC article. Clinical Trial.
64 results