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235 results

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Page 1
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
Lecoquierre F, Punt AM, Ebstein F, Wallaard I, Verhagen R, Studencka-Turski M, Duffourd Y, Moutton S, Tran Mau-Them F, Philippe C, Dean J, Tennant S, Brooks AS, van Slegtenhorst MA, Jurgens JA, Barry BJ, Chan WM, England EM, Martinez Ojeda M, Engle EC, Robson CD, Morrow M, Innes AM, Lamont R, Sanderson M, Krüger E, Thauvin C, Distel B, Faivre L, Elgersma Y, Vitobello A. Lecoquierre F, et al. Among authors: tennant s. Genet Med. 2024 Jun;26(6):101119. doi: 10.1016/j.gim.2024.101119. Epub 2024 Mar 7. Genet Med. 2024. PMID: 38465576 Free PMC 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
Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK).
Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, Rowlands CF, McVeigh T, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Genet Med. 2024 Oct 24;27(2):101305. doi: 10.1016/j.gim.2024.101305. Online ahead of print. Genet Med. 2024. PMID: 39489894 Free article.
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.
Rowlands CF, Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, McVeigh TP, Hanson H, Whiffin N, Jones M, Turnbull C; CanVIG-UK. Rowlands CF, et al. J Med Genet. 2024 Sep 24;61(10):983-991. doi: 10.1136/jmg-2024-110034. J Med Genet. 2024. PMID: 39227160 Free PMC article.
Characterization of Shigella flexneri serotype 6 strains from geographically diverse low- and middle-income countries.
Gabor CE, Chong CE, Lemme-Dumit JM, Hazen TH, Baker KS, Kotloff KL, Kasumba IN, Tennant SM, Badji H, Hossain MJ, Omore R, Ochieng B, Awuor AO, Ogwel B, Juma J, Barry EM, Rasko DA. Gabor CE, et al. Among authors: tennant sm. mBio. 2025 Jan 8;16(1):e0221024. doi: 10.1128/mbio.02210-24. Epub 2024 Dec 10. mBio. 2025. PMID: 39655936 Free PMC article.
Contribution of malnutrition to infant and child deaths in Sub-Saharan Africa and South Asia.
Madewell ZJ, Keita AM, Das PM, Mehta A, Akelo V, Oluoch OB, Omore R, Onyango D, Sagam CK, Cain CJ, Chukwuegbo C, Kaluma E, Luke R, Ogbuanu IU, Bassat Q, Kincardett M, Mandomando I, Rakislova N, Varo R, Xerinda EG, Dangor Z, du Toit J, Lala SG, Madhi SA, Mahtab S, Breines MR, Degefa K, Heluf H, Madrid L, Scott JAG, Sow SO, Tapia MD, El Arifeen S, Gurley ES, Hossain MZ, Islam KM, Rahman A, Mutevedzi PC, Whitney CG, Blau DM, Suchdev PS, Kotloff KL; Child Health and Mortality Prevention Surveillance Network. Madewell ZJ, et al. BMJ Glob Health. 2024 Dec 5;9(12):e017262. doi: 10.1136/bmjgh-2024-017262. BMJ Glob Health. 2024. PMID: 39638608 Free PMC article.
Safety and Tolerability of ShigActive™, a Shigella spp. Targeting Bacteriophage Preparation, in a Phase 1 Randomized, Double-Blind, Controlled Clinical Trial.
Chen WH, Woolston J, Grant-Beurmann S, Robinson CK, Bansal G, Nkeze J, Permala-Booth J, Fraser CM, Tennant SM, Shriver MC, Pasetti MF, Liang Y, Kotloff KL, Sulakvelidze A, Schwartz JA. Chen WH, et al. Among authors: tennant sm. Antibiotics (Basel). 2024 Sep 7;13(9):858. doi: 10.3390/antibiotics13090858. Antibiotics (Basel). 2024. PMID: 39335031 Free PMC article.
235 results