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Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
Hussain MS, Battaglia A, Szczepanski S, Kaygusuz E, Toliat MR, Sakakibara S, Altmüller J, Thiele H, Nürnberg G, Moosa S, Yigit G, Beleggia F, Tinschert S, Clayton-Smith J, Vasudevan P, Urquhart JE, Donnai D, Fryer A, Percin F, Brancati F, Dobbie A, Smigiel R, Gillessen-Kaesbach G, Wollnik B, Noegel AA, Newman WG, Nürnberg P. Hussain MS, et al. Among authors: newman wg. Am J Hum Genet. 2014 Nov 6;95(5):622-32. doi: 10.1016/j.ajhg.2014.10.008. Epub 2014 Nov 6. Am J Hum Genet. 2014. PMID: 25439729 Free PMC article.
Spectrum of PEX1 and PEX6 variants in Heimler syndrome.
Smith CE, Poulter JA, Levin AV, Capasso JE, Price S, Ben-Yosef T, Sharony R, Newman WG, Shore RC, Brookes SJ, Mighell AJ, Inglehearn CF. Smith CE, et al. Among authors: newman wg. Eur J Hum Genet. 2016 Nov;24(11):1565-1571. doi: 10.1038/ejhg.2016.62. Epub 2016 Jun 15. Eur J Hum Genet. 2016. PMID: 27302843 Free PMC article.
Validation of copy number variation analysis for next-generation sequencing diagnostics.
Ellingford JM, Campbell C, Barton S, Bhaskar S, Gupta S, Taylor RL, Sergouniotis PI, Horn B, Lamb JA, Michaelides M, Webster AR, Newman WG, Panda B, Ramsden SC, Black GC. Ellingford JM, et al. Among authors: newman wg. Eur J Hum Genet. 2017 Jun;25(6):719-724. doi: 10.1038/ejhg.2017.42. Epub 2017 Apr 5. Eur J Hum Genet. 2017. PMID: 28378820 Free PMC article.
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.
Figlioli G, Billaud A, Ahearn TU, Antonenkova NN, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Blok MJ, Bogdanova NV, Bonanni B, Burwinkel B, Camp NJ, Campbell A, Castelao JE, Cessna MH, Chanock SJ; NBCS Collaborators; Czene K, Devilee P, Dörk T, Engel C, Eriksson M, Fasching PA, Figueroa JD, Gabrielson M, Gago-Dominguez M, García-Closas M, González-Neira A, Grassmann F, Guénel P, Gündert M, Hadjisavvas A, Hahnen E, Hall P, Hamann U, Harrington PA, He W, Hillemanns P, Hollestelle A, Hooning MJ, Hoppe R, Howell A, Humphreys K; KConFab Investigators; Jager A, Jakubowska A, Khusnutdinova EK, Ko YD, Kristensen VN, Lindblom A, Lissowska J, Lubiński J, Mannermaa A, Manoukian S, Margolin S, Mavroudis D, Newman WG, Obi N, Panayiotidis MI, Rashid MU, Rhenius V, Rookus MA, Saloustros E, Sawyer EJ, Schmutzler RK, Shah M, Sironen R, Southey MC, Suvanto M, Tollenaar RAEM, Tomlinson I, Truong T, van der Kolk LE, van Veen EM, Wappenschmidt B, Yang XR, Bolla MK, Dennis J, Dunning AM, Easton DF, Lush M, Michailidou K, Pharoah PDP, Wang Q, Adank MA, Schmidt MK, Andrulis IL, Chang-Claude J, Nevanlinna H, Chenevix-Trench G, Evans DG, Milne RL, Radice P, Peterlongo P. Figlioli G, et al. Among authors: newman wg. Eur J Hum Genet. 2023 May;31(5):578-587. doi: 10.1038/s41431-022-01257-w. Epub 2023 Jan 27. Eur J Hum Genet. 2023. PMID: 36707629 Free PMC article.
349 results