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Page 1
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy.
van der Sluijs PJ, Moutton S, Dingemans AJM, Weis D, Levy MA, Boycott KM, Arberas C, Baldassarri M, Beneteau C, Brusco A, Coutton C, Dabir T, Dentici ML, Devriendt K, Faivre L, van Haelst MM, Jizi K, Kempers MJ, Kerkhof J, Kharbanda M, Lachlan K, Marle N, McConkey H, Mencarelli MA, Mowat D, Niceta M, Nicolas C, Novelli A, Orlando V, Pichon O, Rankin J, Relator R, Ropers FG, Rosenfeld JA, Sachdev R, Sandaradura SA, Shukarova-Angelovska E, Steenbeek D, Tartaglia M, Tedder MA, Trajkova S, Winer N, Woods J, de Vries BBA, Sadikovic B, Alders M, Santen GWE. van der Sluijs PJ, et al. Among authors: rankin j. Genet Med. 2025 Jan;27(1):101283. doi: 10.1016/j.gim.2024.101283. Epub 2024 Sep 28. Genet Med. 2025. PMID: 39355979 Free article.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183 Free PMC article.
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.
Karimi K, Lichtenstein Y, Reilly J, McConkey H, Relator R, Levy MA, Kerkhof J, Bouman A, Symonds JD, Ghoumid J, Smol T, Clarkson K, Drazba K, Louie RJ, Miranda V, McCann C, Motta J, Lancaster E, Sallevelt S, Sidlow R, Morrison J, Hannibal M, O'Shea J, Marin V, Prasad C, Patel C, Raskin S, Maria-Noelia SM, Diaz de Bustamante A, Marom D, Barkan T, Keren B, Poirsier C, Cohen L, Colin E, Gorman K, Gallant E, Menke LA, Valenzuela Palafoll I, Hauser N, Wentzensen IM, Rankin J, Turnpenny PD, Campeau PM, Balci TB, Tedder ML, Sadikovic B, Weiss K. Karimi K, et al. Among authors: rankin j. Am J Hum Genet. 2025 Feb 6;112(2):414-427. doi: 10.1016/j.ajhg.2024.12.020. Epub 2025 Jan 16. Am J Hum Genet. 2025. PMID: 39824190
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
Ito Y, Carss KJ, Duarte ST, Hartley T, Keren B, Kurian MA, Marey I, Charles P, Mendonça C, Nava C, Pfundt R, Sanchis-Juan A, van Bokhoven H, van Essen A, van Ravenswaaij-Arts C; NIHR BioResource; Care4Rare Canada Consortium; Boycott KM, Kernohan KD, Dyack S, Raymond FL. Ito Y, et al. Am J Hum Genet. 2018 Jul 5;103(1):144-153. doi: 10.1016/j.ajhg.2018.06.001. Epub 2018 Jun 28. Am J Hum Genet. 2018. PMID: 29961568 Free PMC article.
The molecular biology of Huntington's disease.
Ho LW, Carmichael J, Swartz J, Wyttenbach A, Rankin J, Rubinsztein DC. Ho LW, et al. Among authors: rankin j. Psychol Med. 2001 Jan;31(1):3-14. doi: 10.1017/s0033291799002871. Psychol Med. 2001. PMID: 11200958 Review.
Towards the development of supramolecular self-associating amphiphiles as antibiofilm agents against Pseudomonas aeruginosa and Candida albicans biofilms.
Hilton KLF, Steyn HJF, Luthuli KS, Rice M, Streather BR, Sweeney E, White LJ, Morgan FR, Rankin J, Baker J, Bennett C, Wilson HB, Hailey PA, Garrett MD, Ortega-Roldan JL, Sutton JM, Hind CK, Pohl CH, Hiscock JR. Hilton KLF, et al. Among authors: rankin j. J Mater Chem B. 2025 Jun 16. doi: 10.1039/d5tb00653h. Online ahead of print. J Mater Chem B. 2025. PMID: 40521965 Free PMC article.
1,622 results