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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2021 | 2 |
2022 | 2 |
2023 | 2 |
2024 | 1 |
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5 results
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Page 1
A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes.
Am J Hum Genet. 2024 Jan 4;111(1):119-132. doi: 10.1016/j.ajhg.2023.11.010. Epub 2023 Dec 22.
Am J Hum Genet. 2024.
PMID: 38141607
Free PMC article.
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.
Reijnders MRF, Seibt A, Brugger M, Lamers IJC, Ott T, Klaas O, Horváth J, Rose AMS, Craghill IM, Brunet T, Graf E, Mayerhanser K, Hellebrekers D, Pauck D, Neuen-Jacob E, Rodenburg RJT, Wieczorek D, Klee D, Mayatepek E, Driessen G, Bindermann R, Averdunk L, Lohmeier K, Sinnema M, Stegmann APA, Roepman R, Poulter JA, Distelmaier F.
Reijnders MRF, et al.
Genet Med. 2023 Jul;25(7):100838. doi: 10.1016/j.gim.2023.100838. Epub 2023 Apr 11.
Genet Med. 2023.
PMID: 37057673
Free article.
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Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease.
Elpidorou M, Poulter JA, Szymanska K, Baron W, Junger K, Boldt K, Ueffing M, Green L, Livingston JH, Sheridan EG, Johnson CA.
Elpidorou M, et al.
Eur J Hum Genet. 2022 Jul;30(7):860-864. doi: 10.1038/s41431-022-01050-9. Epub 2022 Feb 25.
Eur J Hum Genet. 2022.
PMID: 35217805
Free PMC article.
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Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
Best S, Lord J, Roche M, Watson CM, Poulter JA, Bevers RPJ, Stuckey A, Szymanska K, Ellingford JM, Carmichael J, Brittain H, Toomes C, Inglehearn C, Johnson CA, Wheway G; Genomics England Research Consortium.
Best S, et al.
J Med Genet. 2022 Aug;59(8):737-747. doi: 10.1136/jmedgenet-2021-108065. Epub 2021 Oct 29.
J Med Genet. 2022.
PMID: 34716235
Free PMC article.
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Novel somatic mutations in UBA1 as a cause of VEXAS syndrome.
Poulter JA, Collins JC, Cargo C, De Tute RM, Evans P, Ospina Cardona D, Bowen DT, Cunnington JR, Baguley E, Quinn M, Green M, McGonagle D, Beck DB, Werner A, Savic S.
Poulter JA, et al.
Blood. 2021 Jul 1;137(26):3676-3681. doi: 10.1182/blood.2020010286.
Blood. 2021.
PMID: 33690815
Free PMC article.
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