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Page 1
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: wenger o. Brain. 2023 Nov 2;146(11):4766-4783. doi: 10.1093/brain/awad231. Brain. 2023. PMID: 37437211 Free PMC article.
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, Smith JD, Tran L, Al Turki S, Chioza BA, Cross H, Harlalka GV, Hurles ME, Maroofian R, Heaps AD, Morton MC, Stempak L, Hildebrandt F, Sadowski CE, Zaritsky J, Campellone K, Morton DH, Wang H, Crosby A, Strauss KA. Jinks RN, et al. Among authors: wenger o. Brain. 2015 Aug;138(Pt 8):2173-90. doi: 10.1093/brain/awv153. Epub 2015 Jun 11. Brain. 2015. PMID: 26070982 Free PMC article.
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: wenger o. Brain. 2021 Dec 31;144(12):3597-3610. doi: 10.1093/brain/awab313. Brain. 2021. PMID: 34415310 Free PMC article.
A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.
Ammous Z, Rawlins LE, Jones H, Leslie JS, Wenger O, Scott E, Deline J, Herr T, Evans R, Scheid A, Kennedy J, Chioza BA, Ames RM, Cross HE, Puffenberger EG, Harries L, Baple EL, Crosby AH. Ammous Z, et al. Among authors: wenger o. PLoS Genet. 2021 Sep 27;17(9):e1009803. doi: 10.1371/journal.pgen.1009803. eCollection 2021 Sep. PLoS Genet. 2021. PMID: 34570759 Free PMC article.
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.
Leslie JS, Hjeij R, Vivante A, Bearce EA, Dyer L, Wang J, Rawlins L, Kennedy J, Ubeyratna N, Fasham J, Irons ZH, Craig SB, Koenig J, George S, Pode-Shakked B, Bolkier Y, Barel O, Mane S, Frederiksen KK, Wenger O, Scott E, Cross HE, Lorentzen E, Norris DP, Anikster Y, Omran H, Grimes DT, Crosby AH, Baple EL. Leslie JS, et al. Among authors: wenger o. Genet Med. 2022 Nov;24(11):2249-2261. doi: 10.1016/j.gim.2022.07.019. Epub 2022 Sep 8. Genet Med. 2022. PMID: 36074124 Free PMC article.
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Fasham J, Lin S, Ghosh P, Radio FC, Farrow EG, Thiffault I, Kussman J, Zhou D, Hemming R, Zahka K, Chioza BA, Rawlins LE, Wenger OK, Gunning AC, Pizzi S, Onesimo R, Zampino G, Barker E, Osawa N, Rodriguez MC, Neuhann TM, Zackai EH, Keena B, Capasso J, Levin AV, Bhoj E, Li D, Hakonarson H, Wentzensen IM, Jackson A, Chandler KE, Coban-Akdemir ZH, Posey JE, Banka S, Lupski JR, Sheppard SE, Tartaglia M, Triggs-Raine B, Crosby AH, Baple EL. Fasham J, et al. Genet Med. 2022 Mar;24(3):631-644. doi: 10.1016/j.gim.2021.10.014. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906488 Free PMC article.
Glycogen storage disease type 1a in the Ohio Amish.
Scott EM, Wenger OK, Robinson E, Colling K, Brown MF, Hershberger J, Radhakrishnan K. Scott EM, et al. JIMD Rep. 2022 Jun 21;63(5):453-461. doi: 10.1002/jmd2.12310. eCollection 2022 Sep. JIMD Rep. 2022. PMID: 36101819 Free PMC article.
196 results