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Year Number of Results
1993 1
2007 1
2008 1
2010 4
2011 5
2012 4
2013 6
2014 6
2015 3
2016 3
2017 3
2018 9
2019 7
2020 3
2021 7
2022 3
2023 1
2024 1

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59 results

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Page 1
Proteus Syndrome.
Biesecker LG, Sapp JC. Biesecker LG, et al. Among authors: sapp jc. 2012 Aug 9 [updated 2023 May 25]. 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. 2012 Aug 9 [updated 2023 May 25]. 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: 22876373 Free Books & Documents. Review.
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C; Members of the Undiagnosed Diseases Network; Zenker M, Lee B, Biesecker LG. Johnston JJ, et al. Among authors: sapp jc. Genet Med. 2018 Oct;20(10):1175-1185. doi: 10.1038/gim.2017.249. Epub 2018 Feb 22. Genet Med. 2018. PMID: 29469822 Free PMC article.
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study; Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study; Férec C, … See abstract for full author list ➔ Cogné B, et al. Among authors: sapp jc. Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28. Am J Hum Genet. 2019. PMID: 30827496 Free PMC article.
Allelic heterogeneity of Proteus syndrome.
Buser A, Lindhurst MJ, Kondolf HC, Yourick MR, Keppler-Noreuil KM, Sapp JC, Biesecker LG. Buser A, et al. Among authors: sapp jc. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005181. doi: 10.1101/mcs.a005181. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32327430 Free PMC article.
Cardiothoracic imaging findings of Proteus syndrome.
Mirmomen SM, Arai AE, Turkbey EB, Bradley AJ, Sapp JC, Biesecker LG, Sirajuddin A. Mirmomen SM, et al. Among authors: sapp jc. Sci Rep. 2021 Mar 22;11(1):6577. doi: 10.1038/s41598-021-86029-0. Sci Rep. 2021. PMID: 33753828 Free PMC article.
Quantification of Proteus syndrome-associated lung disease.
Ours CA, Buser A, Hodges MB, Chen MY, Sapp JC, Gochuico BR, Biesecker LG. Ours CA, et al. Among authors: sapp jc. Orphanet J Rare Dis. 2024 Feb 6;19(1):44. doi: 10.1186/s13023-023-03013-9. Orphanet J Rare Dis. 2024. PMID: 38321508 Free PMC article.
Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism.
Daich Varela M, Hufnagel RB, Guan B, Blain D, Sapp JC, Gropman AL, Alur R, Johnston JJ, Biesecker LG, Brooks BP. Daich Varela M, et al. Among authors: sapp jc. Ophthalmic Genet. 2021 Jun;42(3):320-325. doi: 10.1080/13816810.2021.1888127. Epub 2021 Mar 15. Ophthalmic Genet. 2021. PMID: 33719903 Free PMC article.
NAA10 polyadenylation signal variants cause syndromic microphthalmia.
Johnston JJ, Williamson KA, Chou CM, Sapp JC, Ansari M, Chapman HM, Cooper DN, Dabir T, Dudley JN, Holt RJ, Ragge NK, Schäffer AA, Sen SK, Slavotinek AM, FitzPatrick DR, Glaser TM, Stewart F, Black GC, Biesecker LG. Johnston JJ, et al. Among authors: sapp jc. J Med Genet. 2019 Jul;56(7):444-452. doi: 10.1136/jmedgenet-2018-105836. Epub 2019 Mar 6. J Med Genet. 2019. PMID: 30842225 Free PMC article.
Quantifying survival in patients with Proteus syndrome.
Sapp JC, Hu L, Zhao J, Gruber A, Schwartz B, Ferrari D, Biesecker LG. Sapp JC, et al. Genet Med. 2017 Dec;19(12):1376-1379. doi: 10.1038/gim.2017.65. Epub 2017 Jun 29. Genet Med. 2017. PMID: 28661492 Free PMC article.
59 results