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

Year Number of Results
1997 1
1998 1
2004 1
2005 1
2006 1
2007 1
2009 3
2011 1
2012 1
2013 1
2014 1
2015 4
2016 2
2017 1
2019 3
2020 1
2021 2
2022 1
2023 0

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24 results

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Page 1
Successful pregnancy outcome in Ehlers-Danlos syndrome, vascular type.
Palmquist M, Pappas JG, Petrikovsky B, Blakemore K, Roshan D. Palmquist M, et al. Among authors: pappas jg. J Matern Fetal Neonatal Med. 2009 Oct;22(10):924-7. doi: 10.1080/14767050902874071. J Matern Fetal Neonatal Med. 2009. PMID: 19591069 Review.
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.
Panneerselvam S, Wang J, Zhu W, Dai H, Pappas JG, Rabin R, Low KJ, Rosenfeld JA, Emrick L, Xiao R, Xia F, Yang Y, Eng CM, Anderson A, Chau V, Soler-Alfonso C, Streff H, Lalani SR, Mercimek-Andrews S; Undiagnosed Diseases Network; DDD Study; Bi W. Panneerselvam S, et al. Among authors: pappas jg. Clin Genet. 2021 Aug;100(2):227-233. doi: 10.1111/cge.13979. Epub 2021 Jun 1. Clin Genet. 2021. PMID: 33963760
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Dias KR, Carlston CM, Blok LER, De Hayr L, Nawaz U, Evans CA, Bayrak-Toydemir P, Htun S, Zhu Y, Ma A, Lynch SA, Moorwood C, Stals K, Ellard S, Bainbridge MN, Friedman J, Pappas JG, Rabin R, Nowak CB, Douglas J, Wilson TE, Guillen Sacoto MJ, Mullegama SV, Palculict TB, Kirk EP, Pinner JR, Edwards M, Montanari F, Graziano C, Pippucci T, Dingmann B, Glass I, Mefford HC, Shimoji T, Suzuki T, Yamakawa K, Streff H, Schaaf CP, Slavotinek AM, Voineagu I, Carey JC, Buckley MF, Schenck A, Harvey RJ, Roscioli T. Dias KR, et al. Among authors: pappas jg. Genet Med. 2022 Sep;24(9):1952-1966. doi: 10.1016/j.gim.2022.06.001. Epub 2022 Aug 1. Genet Med. 2022. PMID: 35916866 Free article.
In vivo epigenetic editing of Sema6a promoter reverses transcallosal dysconnectivity caused by C11orf46/Arl14ep risk gene.
Peter CJ, Saito A, Hasegawa Y, Tanaka Y, Nagpal M, Perez G, Alway E, Espeso-Gil S, Fayyad T, Ratner C, Dincer A, Gupta A, Devi L, Pappas JG, Lalonde FM, Butman JA, Han JC, Akbarian S, Kamiya A. Peter CJ, et al. Among authors: pappas jg. Nat Commun. 2019 Sep 11;10(1):4112. doi: 10.1038/s41467-019-12013-y. Nat Commun. 2019. PMID: 31511512 Free PMC article.
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
Esmaeeli Nieh S, Madou MR, Sirajuddin M, Fregeau B, McKnight D, Lexa K, Strober J, Spaeth C, Hallinan BE, Smaoui N, Pappas JG, Burrow TA, McDonald MT, Latibashvili M, Leshinsky-Silver E, Lev D, Blumkin L, Vale RD, Barkovich AJ, Sherr EH. Esmaeeli Nieh S, et al. Among authors: pappas jg. Ann Clin Transl Neurol. 2015 Jun;2(6):623-35. doi: 10.1002/acn3.198. Epub 2015 May 1. Ann Clin Transl Neurol. 2015. PMID: 26125038 Free PMC article.
24 results