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Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.
Parry DA, Martin CA, Greene P, Marsh JA; Genomics England Research Consortium; Blyth M, Cox H, Donnelly D, Greenhalgh L, Greville-Heygate S, Harrison V, Lachlan K, McKenna C, Quigley AJ, Rea G, Robertson L, Suri M, Jackson AP. Parry DA, et al. Among authors: robertson l. Genet Med. 2021 Feb;23(2):408-414. doi: 10.1038/s41436-020-00980-3. Epub 2020 Oct 9. Genet Med. 2021. PMID: 33033404 Free PMC article.
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.
Ghali N, Baker D, Brady AF, Burrows N, Cervi E, Cilliers D, Frank M, Germain DP, Hulmes DJS, Jacquemont ML, Kannu P, Lefroy H, Legrand A, Pope FM, Robertson L, Vandersteen A, von Klemperer K, Warburton R, Whiteford M, van Dijk FS. Ghali N, et al. Among authors: robertson l. Genet Med. 2019 Sep;21(9):2081-2091. doi: 10.1038/s41436-019-0470-9. Epub 2019 Mar 6. Genet Med. 2019. PMID: 30837697 Free article.
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Faundes V, Newman WG, Bernardini L, Canham N, Clayton-Smith J, Dallapiccola B, Davies SJ, Demos MK, Goldman A, Gill H, Horton R, Kerr B, Kumar D, Lehman A, McKee S, Morton J, Parker MJ, Rankin J, Robertson L, Temple IK; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study; Deciphering Developmental Disorders (DDD) Study; Banka S. Faundes V, et al. Among authors: robertson l. Am J Hum Genet. 2018 Jan 4;102(1):175-187. doi: 10.1016/j.ajhg.2017.11.013. Epub 2017 Dec 21. Am J Hum Genet. 2018. PMID: 29276005 Free PMC article.
Further delineation of phenotypic spectrum of SCN2A-related disorder.
Richardson R, Baralle D, Bennett C, Briggs T, Bijlsma EK, Clayton-Smith J, Constantinou P, Foulds N, Jarvis J, Jewell R, Johnson DS, McEntagart M, Parker MJ, Radley JA, Robertson L, Ruivenkamp C, Rutten JW, Tellez J, Turnpenny PD, Wilson V, Wright M, Balasubramanian M. Richardson R, et al. Among authors: robertson l. Am J Med Genet A. 2022 Mar;188(3):867-877. doi: 10.1002/ajmg.a.62595. Epub 2021 Dec 11. Am J Med Genet A. 2022. PMID: 34894057 Free 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. 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.
1,731 results