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Page 1
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Efthymiou S, Scala M, Nagaraj V, Ochenkowska K, Komdeur FL, Liang RA, Abdel-Hamid MS, Sultan T, Barøy T, Van Ghelue M, Vona B, Maroofian R, Zafar F, Alkuraya FS, Zaki MS, Severino M, Duru KC, Tryon RC, Brauteset LV, Ansari M, Hamilton M, van Haelst MM, van Haaften G, Zara F, Houlden H, Samarut É, Nichols CG, Smeland MF, McClenaghan C. Efthymiou S, et al. Among authors: ansari m. Brain. 2024 May 3;147(5):1822-1836. doi: 10.1093/brain/awae010. Brain. 2024. PMID: 38217872 Free PMC article.
Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland.
Leighton DJ, Ansari M, Newton J, Parry D, Cleary E, Colville S, Stephenson L, Larraz J, Johnson M, Beswick E, Wong M, Gregory J, Carod Artal J, Davenport R, Duncan C, Morrison I, Smith C, Swingler R, Deary IJ, Porteous M, Aitman TJ, Chandran S, Gorrie GH, Pal S; Lothian Birth Cohorts Group; and the CARE-MND Consortium. Leighton DJ, et al. Among authors: ansari m. J Neurol. 2023 Mar;270(3):1702-1712. doi: 10.1007/s00415-022-11505-0. Epub 2022 Dec 14. J Neurol. 2023. PMID: 36515702 Free PMC article.
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, Fusaro V, Fryer A, Nykamp K, Stühn LG, Haack TB, Korenke GC, Constantinou P, Bujakowska KM, Low KJ, Place E, Humberson J, Napier MP, Hoffman J, Juusola J, Deardorff MA, Shao W, Rockowitz S, Krantz I, Kaur M, Raible S, Dortenzio V, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad DF, O'Donnell-Luria A, Talkowski ME, FitzPatrick DR, Boone PM. Ansari M, et al. HGG Adv. 2024 Apr 11;5(2):100273. doi: 10.1016/j.xhgg.2024.100273. Epub 2024 Jan 30. HGG Adv. 2024. PMID: 38297832 Free PMC article.
Genotypes and phenotypes of motor neuron disease: an update of the genetic landscape in Scotland.
Leighton DJ, Ansari M, Newton J, Cleary E, Stephenson L, Beswick E, Carod Artal J, Davenport R, Duncan C, Gorrie GH, Morrison I, Swingler R, Deary IJ, Porteous M, Chandran S, Pal S; Lothian Birth Cohorts Group, the CARE-MND Consortium. Leighton DJ, et al. Among authors: ansari m. J Neurol. 2024 Aug;271(8):5256-5266. doi: 10.1007/s00415-024-12450-w. Epub 2024 Jun 9. J Neurol. 2024. PMID: 38852112 Free PMC article.
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.
Hall HN, Bengani H, Hufnagel RB, Damante G, Ansari M, Marsh JA, Grimes GR, Kriegsheim AV, Moore D, McKie L, Rahmat J, Mio C, Blyth M, Keng WT, Islam L, McEntargart M, Mannens MM, Heyningen VV, Rainger J, Brooks BP, FitzPatrick DR. Hall HN, et al. Among authors: ansari m. PLoS One. 2022 Nov 22;17(11):e0268149. doi: 10.1371/journal.pone.0268149. eCollection 2022. PLoS One. 2022. PMID: 36413568 Free PMC article.
Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration.
Ansari M, McKeigue PM, Skerka C, Hayward C, Rudan I, Vitart V, Polasek O, Armbrecht AM, Yates JR, Vatavuk Z, Bencic G, Kolcic I, Oostra BA, Van Duijn CM, Campbell S, Stanton CM, Huffman J, Shu X, Khan JC, Shahid H, Harding SP, Bishop PN, Deary IJ, Moore AT, Dhillon B, Rudan P, Zipfel PF, Sim RB, Hastie ND, Campbell H, Wright AF. Ansari M, et al. Hum Mol Genet. 2013 Dec 1;22(23):4857-69. doi: 10.1093/hmg/ddt336. Epub 2013 Jul 19. Hum Mol Genet. 2013. PMID: 23873044 Free PMC article.
Curating genomic disease-gene relationships with Gene2Phenotype (G2P).
Yates TM, Ansari M, Thompson L, Hunt SE, Uhalte EC, Hobson RJ, Marsh JA, Wright CF, Firth HV. Yates TM, et al. Among authors: ansari m. Genome Med. 2024 Nov 6;16(1):127. doi: 10.1186/s13073-024-01398-1. Genome Med. 2024. PMID: 39506859 Free PMC article.
Generating a Peptide Library Using the Repeats of Amino Acid Scaffolds Created by Sliding the Framework of a 7-mer Human Chemerin Segment and Discovery of Potent Antibacterial and Antimycobacterial Peptides.
Akhtar S, Ansari MM, Verma RD, Sharma J, Gupta A, Dhuriya RK, Verma DP, Saroj J, Ali M, Verma NK, Mitra K, Singh BN, Ghosh JK. Akhtar S, et al. Among authors: ansari mm. J Med Chem. 2024 Dec 24. doi: 10.1021/acs.jmedchem.4c02351. Online ahead of print. J Med Chem. 2024. PMID: 39718360
3,619 results