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

Year Number of Results
1993 2
2000 2
2002 1
2004 2
2005 2
2006 3
2007 4
2008 1
2009 3
2010 2
2011 2
2012 2
2013 5
2014 2
2015 8
2016 7
2017 3
2018 3
2019 7
2020 4
2021 8
2022 4
2023 3
2024 4

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73 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, 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, 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, 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, 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.
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.
Manoli I, Sysol JR, Head PE, Epping MW, Gavrilova O, Crocker MK, Sloan JL, Koutsoukos SA, Wang C, Ktena YP, Mendelson S, Pass AR, Zerfas PM, Hoffmann V, Vernon HJ, Fletcher LA, Reynolds JC, Tsokos MG, Stratakis CA, Voss SD, Chen KY, Brown RJ, Hamosh A, Berry GT, Chen XS, Yanovski JA, Venditti CP. Manoli I, et al. JCI Insight. 2024 Feb 22;9(4):e174097. doi: 10.1172/jci.insight.174097. JCI Insight. 2024. PMID: 38271099 Free PMC article.
Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology.
Shchelochkov OA, Farmer CA, Chlebowski C, Adedipe D, Ferry S, Manoli I, Pass A, McCoy S, Van Ryzin C, Sloan J, Thurm A, Venditti CP. Shchelochkov OA, et al. Among authors: manoli i. Mol Psychiatry. 2024 Apr;29(4):974-981. doi: 10.1038/s41380-023-02385-5. Epub 2024 Jan 11. Mol Psychiatry. 2024. PMID: 38200289 Free PMC article.
Inability to move one's face dampens facial expression perception.
Japee S, Jordan J, Licht J, Lokey S; Moebius Syndrome Research Consortium; Chen G, Snow J, Jabs EW, Webb BD, Engle EC, Manoli I, Baker C, Ungerleider LG. Japee S, et al. Among authors: manoli i. Cortex. 2023 Dec;169:35-49. doi: 10.1016/j.cortex.2023.08.014. Epub 2023 Sep 30. Cortex. 2023. PMID: 37852041 Free PMC article.
73 results