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Page 1
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
Hennies HC, Kornak U, Zhang H, Egerer J, Zhang X, Seifert W, Kühnisch J, Budde B, Nätebus M, Brancati F, Wilcox WR, Müller D, Kaplan PB, Rajab A, Zampino G, Fodale V, Dallapiccola B, Newman W, Metcalfe K, Clayton-Smith J, Tassabehji M, Steinmann B, Barr FA, Nürnberg P, Wieacker P, Mundlos S. Hennies HC, et al. Among authors: newman w. Nat Genet. 2008 Dec;40(12):1410-2. doi: 10.1038/ng.252. Epub 2008 Nov 9. Nat Genet. 2008. PMID: 18997784 Free PMC article.
Genome-wide association study of germline variants and breast cancer-specific mortality.
Escala-Garcia M, Guo Q, Dörk T, Canisius S, Keeman R, Dennis J, Beesley J, Lecarpentier J, Bolla MK, Wang Q, Abraham J, Andrulis IL, Anton-Culver H, Arndt V, Auer PL, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bernstein L, Blomqvist C, Boeckx B, Bojesen SE, Bonanni B, Børresen-Dale AL, Brauch H, Brenner H, Brentnall A, Brinton L, Broberg P, Brock IW, Brucker SY, Burwinkel B, Caldas C, Caldés T, Campa D, Canzian F, Carracedo A, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Chenevix-Trench G, Cheng TD, Chin SF, Clarke CL; NBCS Collaborators; Cordina-Duverger E, Couch FJ, Cox DG, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dunn JA, Dunning AM, Durcan L, Dwek M, Earl HM, Ekici AB, Eliassen AH, Ellberg C, Engel C, Eriksson M, Evans DG, Figueroa J, Flesch-Janys D, Flyger H, Gabrielson M, Gago-Dominguez M, Galle E, Gapstur SM, García-Closas M, García-Sáenz JA, Gaudet MM, George A, Georgoulias V, Giles GG, Glendon G, Goldgar DE, González-Neira A, Alnæs GIG, Grip M, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Hankinson S, Harkness EF, Harrington PA, Hart SN, Hartikainen JM, Hein A, Hillemanns P, Hiller L, Holleczek B, Hollestelle A, Hooning MJ, H… See abstract for full author list ➔ Escala-Garcia M, et al. Among authors: newman wt. Br J Cancer. 2019 Mar;120(6):647-657. doi: 10.1038/s41416-019-0393-x. Epub 2019 Feb 21. Br J Cancer. 2019. PMID: 30787463 Free PMC article.
Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis.
Shu X, Wu L, Khankari NK, Shu XO, Wang TJ, Michailidou K, Bolla MK, Wang Q, Dennis J, Milne RL, Schmidt MK, Pharoah PDP, Andrulis IL, Hunter DJ, Simard J, Easton DF, Zheng W; Breast Cancer Association Consortium. Shu X, et al. Int J Epidemiol. 2019 Jun 1;48(3):795-806. doi: 10.1093/ije/dyy201. Int J Epidemiol. 2019. PMID: 30277539 Free PMC article.
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE, AlAbdi L, Maddirevula S, Alsaif HS, Alzahrani F, Ewida N, Hashem M, Abdulwahab F, Abuyousef O, Kuwahara H, Gao X; Molecular Autopsy Consortium; Alkuraya FS. Shamseldin HE, et al. Genome Med. 2021 Oct 13;13(1):161. doi: 10.1186/s13073-021-00973-0. Genome Med. 2021. PMID: 34645488 Free PMC article.
Extraocular muscle afferent signals modulate visual attention.
Balslev D, Newman W, Knox PC. Balslev D, et al. Among authors: newman w. Invest Ophthalmol Vis Sci. 2012 Oct 9;53(11):7004-9. doi: 10.1167/iovs.12-10249. Invest Ophthalmol Vis Sci. 2012. PMID: 22977139 Free PMC article.
Development and Validation of a Rapid Point-of-Care CYP2C19 Genotyping Platform.
Burke KA, O'Sullivan J, Godfrey N, Sharma V, Hilton S, Wright SJ, Greaves NS, Newman WG, McDermott JH. Burke KA, et al. Among authors: newman wg. J Mol Diagn. 2024 Dec 24:S1525-1578(24)00312-X. doi: 10.1016/j.jmoldx.2024.12.001. Online ahead of print. J Mol Diagn. 2024. PMID: 39725012 Free article.
Pharmacogenomics: DPYD and Prevention of Toxicity.
Keen J, McDermott JH, Aguilar-Martinez E, Newman WG. Keen J, et al. Among authors: newman wg. Clin Oncol (R Coll Radiol). 2024 Dec 9;38:103706. doi: 10.1016/j.clon.2024.103706. Online ahead of print. Clin Oncol (R Coll Radiol). 2024. PMID: 39721301
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.
Smith TB, Kopajtich R, Demain LAM, Rea A, Thomas HB, Schiff M, Beetz C, Joss S, Conway GS, Shukla A, Yeole M, Radhakrishnan P, Azzouz H, Ben Chehida A, Elmaleh-Bergès M, Glasgow RIC, Thompson K, Oláhová M, He L, Jenkinson EM, Jahic A, Belyantseva IA, Barzik M, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Carrera S, Blakes AJM, Banka S, Yue WW, Ellingford JM, Houlden H; DDD Study; Munro KJ, Friedman TB, Taylor RW, Prokisch H, O'Keefe RT, Newman WG. Smith TB, et al. Among authors: newman wg. Am J Hum Genet. 2025 Jan 2;112(1):59-74. doi: 10.1016/j.ajhg.2024.11.007. Epub 2024 Dec 18. Am J Hum Genet. 2025. PMID: 39701103 Free article.
Radiation Myelitis Risk After Hypofractionated Spine Stereotactic Body Radiation Therapy.
Jackson CB, Boe LA, Zhang L, Apte A, Ruppert LM, Haseltine JM, Mueller BA, Schmitt AM, Yang JT, Newman WC, Barzilai O, Bilsky MH, Yamada Y, Jackson A, Lis E, Higginson DS. Jackson CB, et al. Among authors: newman wc. JAMA Oncol. 2024 Dec 19. doi: 10.1001/jamaoncol.2024.5387. Online ahead of print. JAMA Oncol. 2024. PMID: 39699884
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