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Page 1
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
Calpena E, Hervieu A, Kaserer T, Swagemakers SMA, Goos JAC, Popoola O, Ortiz-Ruiz MJ, Barbaro-Dieber T, Bownass L, Brilstra EH, Brimble E, Foulds N, Grebe TA, Harder AVE, Lees MM, Monaghan KG, Newbury-Ecob RA, Ong KR, Osio D, Reynoso Santos FJ, Ruzhnikov MRZ, Telegrafi A, van Binsbergen E, van Dooren MF; Deciphering Developmental Disorders Study; van der Spek PJ, Blagg J, Twigg SRF, Mathijssen IMJ, Clarke PA, Wilkie AOM. Calpena E, et al. Among authors: osio d. Am J Hum Genet. 2019 Apr 4;104(4):709-720. doi: 10.1016/j.ajhg.2019.02.006. Epub 2019 Mar 21. Am J Hum Genet. 2019. PMID: 30905399 Free PMC article.
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
Akawi N, McRae J, Ansari M, Balasubramanian M, Blyth M, Brady AF, Clayton S, Cole T, Deshpande C, Fitzgerald TW, Foulds N, Francis R, Gabriel G, Gerety SS, Goodship J, Hobson E, Jones WD, Joss S, King D, Klena N, Kumar A, Lees M, Lelliott C, Lord J, McMullan D, O'Regan M, Osio D, Piombo V, Prigmore E, Rajan D, Rosser E, Sifrim A, Smith A, Swaminathan GJ, Turnpenny P, Whitworth J, Wright CF, Firth HV, Barrett JC, Lo CW, FitzPatrick DR, Hurles ME; DDD study. Akawi N, et al. Among authors: osio d. Nat Genet. 2015 Nov;47(11):1363-9. doi: 10.1038/ng.3410. Epub 2015 Oct 5. Nat Genet. 2015. PMID: 26437029 Free PMC article.
Genotype-phenotype correlation at codon 1740 of SETD2.
Rabin R, Radmanesh A, Glass IA, Dobyns WB, Aldinger KA, Shieh JT, Romoser S, Bombei H, Dowsett L, Trapane P, Bernat JA, Baker J, Mendelsohn NJ, Popp B, Siekmeyer M, Sorge I, Sansbury FH, Watts P, Foulds NC, Burton J, Hoganson G, Hurst JA, Menzies L, Osio D, Kerecuk L, Cobben JM, Jizi K, Jacquemont S, Bélanger SA, Löhner K, Veenstra-Knol HE, Lemmink HH, Keller-Ramey J, Wentzensen IM, Punj S, McWalter K, Lenberg J, Ellsworth KA, Radtke K, Akbarian S, Pappas J. Rabin R, et al. Among authors: osio d. Am J Med Genet A. 2020 Sep;182(9):2037-2048. doi: 10.1002/ajmg.a.61724. Epub 2020 Jul 24. Am J Med Genet A. 2020. PMID: 32710489
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG; Deciphering Developmental Disorders Study; Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K. Kaplanis J, et al. Nature. 2020 Oct;586(7831):757-762. doi: 10.1038/s41586-020-2832-5. Epub 2020 Oct 14. Nature. 2020. PMID: 33057194 Free PMC article.
The contribution of X-linked coding variation to severe developmental disorders.
Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, Gallone G, McRae J; Deciphering Developmental Disorders Study; Wright CF, FitzPatrick DR, Firth HV, Hurles ME. Martin HC, et al. Nat Commun. 2021 Jan 27;12(1):627. doi: 10.1038/s41467-020-20852-3. Nat Commun. 2021. PMID: 33504798 Free PMC article.
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation.
Ragoussis V, Pagnamenta AT, Haines RL, Giacopuzzi E, McClatchey MA, Sampson JR, Suri M, Gardham A, Cobben JM, Osio D, Fry AE; Genomics England Research Consortium; Taylor JC. Ragoussis V, et al. Among authors: osio d. J Med Genet. 2022 Apr;59(4):366-369. doi: 10.1136/jmedgenet-2020-107528. Epub 2021 Feb 5. J Med Genet. 2022. PMID: 33547136 Free PMC article. No abstract available.
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
von der Lippe C, Tveten K, Prescott TE, Holla ØL, Busk ØL, Burke KB, Sansbury FH, Baptista J, Fry AE, Lim D, Jolles S, Evans J, Osio D, Macmillan C, Bruno I, Faletra F, Climent S, Urreitzi R, Hoenicka J, Palau F, Cohen ASA, Engleman K, Zhou D, Amudhavalli SM, Jeanne M, Bonnet-Brilhault F, Lévy J, Drunat S, Derive N, Haug MG, Thorstensen WM. von der Lippe C, et al. Among authors: osio d. Am J Med Genet A. 2022 Jan;188(1):272-282. doi: 10.1002/ajmg.a.62492. Epub 2021 Sep 13. Am J Med Genet A. 2022. PMID: 34515416
22 results