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Page 1
Phenotypes and genotypes in individuals with SMC1A variants.
Huisman S, Mulder PA, Redeker E, Bader I, Bisgaard AM, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V, Deardorff MA, Diderich K, Elting M, van Essen A, FitzPatrick D, Gervasini C, Gillessen-Kaesbach G, Girisha KM, Hilhorst-Hofstee Y, Hopman S, Horn D, Isrie M, Jansen S, Jespersgaard C, Kaiser FJ, Kaur M, Kleefstra T, Krantz ID, Lakeman P, Landlust A, Lessel D, Michot C, Moss J, Noon SE, Oliver C, Parenti I, Pie J, Ramos FJ, Rieubland C, Russo S, Selicorni A, Tümer Z, Vorstenbosch R, Wenger TL, van Balkom I, Piening S, Wierzba J, Hennekam RC. Huisman S, et al. Among authors: lessel d. Am J Med Genet A. 2017 Aug;173(8):2108-2125. doi: 10.1002/ajmg.a.38279. Epub 2017 May 26. Am J Med Genet A. 2017. PMID: 28548707
Runs of homozygosity and testicular cancer risk.
Loveday C, Sud A, Litchfield K, Levy M, Holroyd A, Broderick P, Kote-Jarai Z, Dunning AM, Muir K, Peto J, Eeles R, Easton DF, Dudakia D, Orr N, Pashayan N; UK Testicular Cancer Collaboration; PRACTICAL Consortium; Reid A, Huddart RA, Houlston RS, Turnbull C. Loveday C, et al. Andrology. 2019 Jul;7(4):555-564. doi: 10.1111/andr.12667. Andrology. 2019. PMID: 31310061 Free article.
Author Correction: Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia.
Vijayakrishnan J, Studd J, Broderick P, Kinnersley B, Holroyd A, Law PJ, Kumar R, Allan JM, Harrison CJ, Moorman AV, Vora A, Roman E, Rachakonda S, Kinsey SE, Sheridan E, Thompson PD, Irving JA, Koehler R, Hoffmann P, Nöthen MM, Heilmann-Heimbach S, Jöckel KH, Easton DF, Pharaoh PDP, Dunning AM, Peto J, Canzian F, Swerdlow A, Eeles RA, Kote-Jarai Z, Muir K, Pashayan N; PRACTICAL consortium; Greaves M, Zimmerman M, Bartram CR, Schrappe M, Stanulla M, Hemminki K, Houlston RS. Vijayakrishnan J, et al. Nat Commun. 2019 Jan 21;10(1):419. doi: 10.1038/s41467-018-08106-9. Nat Commun. 2019. PMID: 30664635 Free PMC article.
Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia.
Vijayakrishnan J, Studd J, Broderick P, Kinnersley B, Holroyd A, Law PJ, Kumar R, Allan JM, Harrison CJ, Moorman AV, Vora A, Roman E, Rachakonda S, Kinsey SE, Sheridan E, Thompson PD, Irving JA, Koehler R, Hoffmann P, Nöthen MM, Heilmann-Heimbach S, Jöckel KH, Easton DF, Pharaoh PDP, Dunning AM, Peto J, Canzian F, Swerdlow A, Eeles RA, Kote-Jarai Z, Muir K, Pashayan N; PRACTICAL Consortium; Greaves M, Zimmerman M, Bartram CR, Schrappe M, Stanulla M, Hemminki K, Houlston RS. Vijayakrishnan J, et al. Nat Commun. 2018 Apr 9;9(1):1340. doi: 10.1038/s41467-018-03178-z. Nat Commun. 2018. PMID: 29632299 Free PMC article.
Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier?
Lessel D, Saha B, Hisama F, Kaymakamzade B, Nurlu G, Gursoy-Özdemir Y, Thiele H, Nürnberg P, Martin GM, Kubisch C, Oshima J. Lessel D, et al. Am J Med Genet A. 2014 Oct;164A(10):2510-3. doi: 10.1002/ajmg.a.36664. Epub 2014 Jul 2. Am J Med Genet A. 2014. PMID: 24989684 Free PMC article.
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.
Hempel M, Cremer K, Ockeloen CW, Lichtenbelt KD, Herkert JC, Denecke J, Haack TB, Zink AM, Becker J, Wohlleber E, Johannsen J, Alhaddad B, Pfundt R, Fuchs S, Wieczorek D, Strom TM, van Gassen KL, Kleefstra T, Kubisch C, Engels H, Lessel D. Hempel M, et al. Among authors: lessel d. Am J Hum Genet. 2015 Sep 3;97(3):493-500. doi: 10.1016/j.ajhg.2015.08.003. Am J Hum Genet. 2015. PMID: 26340335 Free PMC article.
118 results