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

Year Number of Results
1993 3
2002 4
2003 3
2004 7
2005 2
2006 1
2007 1
2008 3
2009 3
2010 6
2011 1
2012 2
2013 5
2014 6
2015 3
2016 8
2017 8
2018 5
2019 12
2020 11
2021 9
2022 10
2023 4
2024 9

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111 results

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Page 1
PI4KA-Related Disorder.
Baple EL, Salter C, Uhlig H, Wolf NI, Crosby AH. Baple EL, et al. Among authors: crosby ah. 2022 Aug 11. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2022 Aug 11. 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: 35951779 Free Books & Documents. Review.
HYAL2 Deficiency.
Fasham J, Wenger OK, Crosby AH, Baple EL. Fasham J, et al. Among authors: crosby ah. 2023 Sep 21. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2023 Sep 21. 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: 37733894 Free Books & Documents. Review.
KPTN-Related Disorder.
Rawlins LE, Crino PB, Iffland PH, Crosby AH, Baple EL. Rawlins LE, et al. Among authors: crosby ah. 2024 Aug 1. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2024 Aug 1. 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: 39083632 Free Books & Documents. Review.
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
Fasham J, Huebner AK, Liebmann L, Khalaf-Nazzal R, Maroofian R, Kryeziu N, Wortmann SB, Leslie JS, Ubeyratna N, Mancini GMS, van Slegtenhorst M, Wilke M, Haack TB, Shamseldin HE, Gleeson JG, Almuhaizea M, Dweikat I, Abu-Libdeh B, Daana M, Zaki MS, Wakeling MN, McGavin L, Turnpenny PD, Alkuraya FS, Houlden H, Schlattmann P, Kaila K, Crosby AH, Baple EL, Hübner CA. Fasham J, et al. Among authors: crosby ah. Brain. 2023 Nov 2;146(11):4547-4561. doi: 10.1093/brain/awad235. Brain. 2023. PMID: 37459438 Free PMC article.
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Levitin MO, Rawlins LE, Sanchez-Andrade G, Arshad OA, Collins SC, Sawiak SJ, Iffland PH 2nd, Andersson MHL, Bupp C, Cambridge EL, Coomber EL, Ellis I, Herkert JC, Ironfield H, Jory L, Kretz PF, Kant SG, Neaverson A, Nibbeling E, Rowley C, Relton E, Sanderson M, Scott EM, Stewart H, Shuen AY, Schreiber J, Tuck L, Tonks J, Terkelsen T, van Ravenswaaij-Arts C, Vasudevan P, Wenger O, Wright M, Day A, Hunter A, Patel M, Lelliott CJ, Crino PB, Yalcin B, Crosby AH, Baple EL, Logan DW, Hurles ME, Gerety SS. Levitin MO, et al. Among authors: crosby ah. Brain. 2023 Nov 2;146(11):4766-4783. doi: 10.1093/brain/awad231. Brain. 2023. PMID: 37437211 Free PMC article.
PCNA mutation affects DNA repair not replication.
Green CM, Baple EL, Crosby AH. Green CM, et al. Among authors: crosby ah. Cell Cycle. 2014;13(20):3157-8. doi: 10.4161/15384101.2014.969994. Cell Cycle. 2014. PMID: 25485490 Free PMC article. No abstract available.
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.
Saettini F, Guerra F, Mauri M, Salter CG, Adam MP, Adams D, Baple EL, Barredo E, Bhatia S, Borkhardt A, Brusco A, Bugarin C, Chinello C, Crosby AH, D'Souza P, Denti V, Fazio G, Giuliani S, Kuehn HS, Amel H, Elmi A, Lo B, Malighetti F, Mandrile G, Martín-Nalda A, Mefford HC, Moratto D, Emam Mousavi F, Nelson Z, Gutiérrez-Solana LG, Macnamara E, Michaud V, O'Leary M, Pagani L, Pavinato L, Santamaria PV, Planas-Serra L, Quadri M, Raspall-Chaure M, Rebellato S, Rosenzweig SD, Roubertie A, Holzinger D, Deal C, Vockley CW, Savino AM, L Stoddard J, Uhlig HH, Pujol A, Magni F, Paglia G, Cazzaniga G, Piazza R, Barberis M, Biondi A. Saettini F, et al. Among authors: crosby ah. J Clin Immunol. 2024 Sep 23;45(1):15. doi: 10.1007/s10875-024-01793-8. J Clin Immunol. 2024. PMID: 39312004
Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
Salter CG, Cai Y, Lo B, Helman G, Taylor H, McCartney A, Leslie JS, Accogli A, Zara F, Traverso M, Fasham J, Lees JA, Ferla MP, Chioza BA, Wenger O, Scott E, Cross HE, Crawford J, Warshawsky I, Keisling M, Agamanolis D, Ward Melver C, Cox H, Elawad M, Marton T, Wakeling MN, Holzinger D, Tippelt S, Munteanu M, Valcheva D, Deal C, Van Meerbeke S, Walsh Vockley C, Butte MJ, Acar U, van der Knaap MS, Korenke GC, Kotzaeridou U, Balla T, Simons C, Uhlig HH, Crosby AH, De Camilli P, Wolf NI, Baple EL. Salter CG, et al. Among authors: crosby ah. Brain. 2021 Dec 31;144(12):3597-3610. doi: 10.1093/brain/awab313. Brain. 2021. PMID: 34415310 Free PMC article.
111 results