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Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.
Genet Med. 2024 Sep 20:101278. doi: 10.1016/j.gim.2024.101278. Online ahead of print.
Genet Med. 2024.
PMID: 39315527
Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families.
Azeem A, Ahmed AN, Khan N, Voutsina N, Ullah I, Ubeyratna N, Yasin M, Baple EL, Crosby AH, Rawlins LE, Saleha S.
Azeem A, et al. Among authors: ubeyratna n.
BMC Neurol. 2024 Sep 20;24(1):354. doi: 10.1186/s12883-024-03855-1.
BMC Neurol. 2024.
PMID: 39304850
Free PMC article.
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TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine.
Khalaf-Nazzal R, Dweikat I, Ubeyratna N, Fasham J, Alawneh M, Leslie J, Maree M, Gunning A, Zayed DZ, Voutsina N, McGavin L, Sawafta R, Owens M, Baker W, Turnpenny P, Al-Hijawi F, Baple EL, Crosby AH, Rawlins LE.
Khalaf-Nazzal R, et al. Among authors: ubeyratna n.
Am J Med Genet A. 2024 Jul;194(7):e63579. doi: 10.1002/ajmg.a.63579. Epub 2024 Mar 4.
Am J Med Genet A. 2024.
PMID: 38436550
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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: ubeyratna n.
Brain. 2023 Nov 2;146(11):4547-4561. doi: 10.1093/brain/awad235.
Brain. 2023.
PMID: 37459438
Free PMC article.
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Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Khalaf-Nazzal R, Fasham J, Inskeep KA, Blizzard LE, Leslie JS, Wakeling MN, Ubeyratna N, Mitani T, Griffith JL, Baker W, Al-Hijawi F, Keough KC, Gezdirici A, Pena L, Spaeth CG, Turnpenny PD, Walsh JR, Ray R, Neilson A, Kouranova E, Cui X, Curiel DT, Pehlivan D, Akdemir ZC, Posey JE, Lupski JR, Dobyns WB, Stottmann RW, Crosby AH, Baple EL.
Khalaf-Nazzal R, et al. Among authors: ubeyratna n.
Am J Hum Genet. 2022 Nov 3;109(11):2068-2079. doi: 10.1016/j.ajhg.2022.09.012. Epub 2022 Oct 24.
Am J Hum Genet. 2022.
PMID: 36283405
Free PMC article.
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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: ubeyratna n.
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.
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Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia.
Khalaf-Nazzal R, Fasham J, Ubeyratna N, Evans DJ, Leslie JS, Warner TT, Al-Hijawi F, Alshaer S, Baker W, Turnpenny PD, Baple EL, Crosby AH.
Khalaf-Nazzal R, et al. Among authors: ubeyratna n.
Brain Sci. 2021 May 11;11(5):614. doi: 10.3390/brainsci11050614.
Brain Sci. 2021.
PMID: 34064836
Free PMC article.
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Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.
Lin S, Fasham J, Al-Hijawi F, Qutob N, Gunning A, Leslie JS, McGavin L, Ubeyratna N, Baker W, Zeid R, Turnpenny PD, Crosby AH, Baple EL, Khalaf-Nazzal R.
Lin S, et al. Among authors: ubeyratna n.
Eur J Hum Genet. 2021 Oct;29(10):1570-1576. doi: 10.1038/s41431-021-00887-w. Epub 2021 May 20.
Eur J Hum Genet. 2021.
PMID: 34012134
Free PMC article.
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