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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 2
2004 1
2006 2
2007 3
2008 2
2009 5
2010 8
2011 15
2012 16
2013 12
2014 8
2015 8
2016 6
2017 7
2018 11
2019 12
2020 5
2021 7
2022 10
2023 11
2024 2

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126 results

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Page 1
Tominersen in Adults with Manifest Huntington's Disease.
McColgan P, Thobhani A, Boak L, Schobel SA, Nicotra A, Palermo G, Trundell D, Zhou J, Schlegel V, Sanwald Ducray P, Hawellek DJ, Dorn J, Simillion C, Lindemann M, Wheelock V, Durr A, Anderson KE, Long JD, Wild EJ, Landwehrmeyer GB, Leavitt BR, Tabrizi SJ, Doody R; GENERATION HD1 Investigators. McColgan P, et al. N Engl J Med. 2023 Dec 7;389(23):2203-2205. doi: 10.1056/NEJMc2300400. N Engl J Med. 2023. PMID: 38055260 No abstract available.
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
Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis.
Qureshi N, Woods B, Neves de Faria R, Saramago Goncalves P, Cox E, Leonardi Bee J, Condon L, Weng S, Akyea RK, Iyen B, Roderick P, Humphries SE, Rowlands W, Watson M, Haralambos K, Kenny R, Datta D, Miedzybrodzka Z, Byrne C, Kai J. Qureshi N, et al. Among authors: miedzybrodzka z. Health Technol Assess. 2023 Oct;27(16):1-140. doi: 10.3310/CTMD0148. Health Technol Assess. 2023. PMID: 37924278 Free PMC article.
Severe Hypertriglyceridaemia and Chylomicronaemia Syndrome-Causes, Clinical Presentation, and Therapeutic Options.
Bashir B, Ho JH, Downie P, Hamilton P, Ferns G, Datta D, Cegla J, Wierzbicki AS, Dawson C, Jenkinson F, Delaney H, Mansfield M, Teoh Y, Miedzybrodzka Z, Haso H, Durrington PN, Soran H. Bashir B, et al. Among authors: miedzybrodzka z. Metabolites. 2023 Apr 30;13(5):621. doi: 10.3390/metabo13050621. Metabolites. 2023. PMID: 37233662 Free PMC article. Review.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.
Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing.
Hocking LJ, Andrews C, Armstrong C, Ansari M, Baty D, Berg J, Bradley T, Clark C, Diamond A, Doherty J, Lampe A, McGowan R, Moore DJ, O'Sullivan D, Purvis A, Santoyo-Lopez J, Westwood P, Abbott M, Williams N; Scottish Genomes Partnership; Aitman TJ, Miedzybrodzka Z. Hocking LJ, et al. Among authors: miedzybrodzka z. Eur J Hum Genet. 2023 Feb;31(2):231-238. doi: 10.1038/s41431-022-01226-3. Epub 2022 Dec 6. Eur J Hum Genet. 2023. PMID: 36474026 Free PMC article.
126 results