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Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing.
Mendez R, Iqbal S, Vishnopolska S, Martinez C, Dibner G, Aliano R, Zaiat J, Biagioli G, Fernandez C, Turjanski A, Campbell AJ, Mercado G, Marti MA. Mendez R, et al. Among authors: campbell aj. Ophthalmic Genet. 2021 Jun;42(3):291-295. doi: 10.1080/13816810.2021.1888129. Epub 2021 Feb 18. Ophthalmic Genet. 2021. PMID: 33599182
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Balak C, Benard M, Schaefer E, Iqbal S, Ramsey K, Ernoult-Lange M, Mattioli F, Llaci L, Geoffroy V, Courel M, Naymik M, Bachman KK, Pfundt R, Rump P, Ter Beest J, Wentzensen IM, Monaghan KG, McWalter K, Richholt R, Le Béchec A, Jepsen W, De Both M, Belnap N, Boland A, Piras IS, Deleuze JF, Szelinger S, Dollfus H, Chelly J, Muller J, Campbell A, Lal D, Rangasamy S, Mandel JL, Narayanan V, Huentelman M, Weil D, Piton A. Balak C, et al. Am J Hum Genet. 2019 Sep 5;105(3):509-525. doi: 10.1016/j.ajhg.2019.07.010. Epub 2019 Aug 15. Am J Hum Genet. 2019. PMID: 31422817 Free PMC article.
MISCAST: MIssense variant to protein StruCture Analysis web SuiTe.
Iqbal S, Hoksza D, Pérez-Palma E, May P, Jespersen JB, Ahmed SS, Rifat ZT, Heyne HO, Rahman MS, Cottrell JR, Wagner FF, Daly MJ, Campbell AJ, Lal D. Iqbal S, et al. Among authors: campbell aj. Nucleic Acids Res. 2020 Jul 2;48(W1):W132-W139. doi: 10.1093/nar/gkaa361. Nucleic Acids Res. 2020. PMID: 32402084 Free PMC article.
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels.
Heyne HO, Baez-Nieto D, Iqbal S, Palmer DS, Brunklaus A, May P; Epi25 Collaborative; Johannesen KM, Lauxmann S, Lemke JR, Møller RS, Pérez-Palma E, Scholl UI, Syrbe S, Lerche H, Lal D, Campbell AJ, Wang HR, Pan J, Daly MJ. Heyne HO, et al. Among authors: campbell aj. Sci Transl Med. 2020 Aug 12;12(556):eaay6848. doi: 10.1126/scitranslmed.aay6848. Sci Transl Med. 2020. PMID: 32801145
Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants.
Iqbal S, Pérez-Palma E, Jespersen JB, May P, Hoksza D, Heyne HO, Ahmed SS, Rifat ZT, Rahman MS, Lage K, Palotie A, Cottrell JR, Wagner FF, Daly MJ, Campbell AJ, Lal D. Iqbal S, et al. Among authors: campbell aj. Proc Natl Acad Sci U S A. 2020 Nov 10;117(45):28201-28211. doi: 10.1073/pnas.2002660117. Epub 2020 Oct 26. Proc Natl Acad Sci U S A. 2020. PMID: 33106425 Free PMC article.
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Johannesen KM, Iqbal S, Guazzi M, Mohammadi NA, Pérez-Palma E, Schaefer E, De Saint Martin A, Abiwarde MT, McTague A, Pons R, Piton A, Kurian MA, Ambegaonkar G, Firth H, Sanchis-Juan A, Deprez M, Jansen K, De Waele L, Briltra EH, Verbeek NE, van Kempen M, Fazeli W, Striano P, Zara F, Visser G, Braakman HMH, Haeusler M, Elbracht M, Vaher U, Smol T, Lemke JR, Platzer K, Kennedy J, Klein KM, Au PYB, Smyth K, Kaplan J, Thomas M, Dewenter MK, Dinopoulos A, Campbell AJ, Lal D, Lederer D, Liao VWY, Ahring PK, Møller RS, Gardella E. Johannesen KM, et al. Among authors: campbell aj. Genet Med. 2022 Mar;24(3):681-693. doi: 10.1016/j.gim.2021.11.004. Epub 2021 Dec 7. Genet Med. 2022. PMID: 34906499 Free article.
426 results