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Page 1
Ocular manifestations of trichothiodystrophy.
Brooks BP, Thompson AH, Clayton JA, Chan CC, Tamura D, Zein WM, Blain D, Hadsall C, Rowan J, Bowles KE, Khan SG, Ueda T, Boyle J, Oh KS, DiGiovanna JJ, Kraemer KH. Brooks BP, et al. Among authors: zein wm. Ophthalmology. 2011 Dec;118(12):2335-42. doi: 10.1016/j.ophtha.2011.05.036. Epub 2011 Sep 28. Ophthalmology. 2011. PMID: 21959366 Free PMC article.
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.
Pineda-Alvarez DE, Solomon BD, Roessler E, Balog JZ, Hadley DW, Zein WM, Hadsall CK, Brooks BP, Muenke M. Pineda-Alvarez DE, et al. Among authors: zein wm. Am J Med Genet A. 2011 Nov;155A(11):2713-20. doi: 10.1002/ajmg.a.34261. Epub 2011 Oct 4. Am J Med Genet A. 2011. PMID: 21976454 Free PMC article.
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
Simeonov DR, Wang X, Wang C, Sergeev Y, Dolinska M, Bower M, Fischer R, Winer D, Dubrovsky G, Balog JZ, Huizing M, Hart R, Zein WM, Gahl WA, Brooks BP, Adams DR. Simeonov DR, et al. Among authors: zein wm. Hum Mutat. 2013 Jun;34(6):827-35. doi: 10.1002/humu.22315. Epub 2013 Apr 30. Hum Mutat. 2013. PMID: 23504663 Free PMC article. Review.
Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome.
Han JC, Thurm A, Golden Williams C, Joseph LA, Zein WM, Brooks BP, Butman JA, Brady SM, Fuhr SR, Hicks MD, Huey AE, Hanish AE, Danley KM, Raygada MJ, Rennert OM, Martinowich K, Sharp SJ, Tsao JW, Swedo SE. Han JC, et al. Among authors: zein wm. Cortex. 2013 Nov-Dec;49(10):2700-10. doi: 10.1016/j.cortex.2013.02.009. Epub 2013 Feb 19. Cortex. 2013. PMID: 23517654 Free PMC article.
Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage.
Brooks BP, Thompson AH, Bishop RJ, Clayton JA, Chan CC, Tsilou ET, Zein WM, Tamura D, Khan SG, Ueda T, Boyle J, Oh KS, Imoto K, Inui H, Moriwaki S, Emmert S, Iliff NT, Bradford P, Digiovanna JJ, Kraemer KH. Brooks BP, et al. Among authors: zein wm. Ophthalmology. 2013 Jul;120(7):1324-36. doi: 10.1016/j.ophtha.2012.12.044. Epub 2013 Apr 16. Ophthalmology. 2013. PMID: 23601806 Free PMC article.
Systemic diagnostic testing in patients with apparently isolated uveal coloboma.
Huynh N, Blain D, Glaser T, Doss EL, Zein WM, Lang DM, Baker EH, Hill S, Brewer CC, Kopp JB, Bardakjian TM, Maumenee IH, Bateman BJ, Brooks BP. Huynh N, et al. Among authors: zein wm. Am J Ophthalmol. 2013 Dec;156(6):1159-1168.e4. doi: 10.1016/j.ajo.2013.06.037. Epub 2013 Sep 5. Am J Ophthalmol. 2013. PMID: 24012100 Free PMC article.
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.
Johnston JJ, Lewis KL, Ng D, Singh LN, Wynter J, Brewer C, Brooks BP, Brownell I, Candotti F, Gonsalves SG, Hart SP, Kong HH, Rother KI, Sokolic R, Solomon BD, Zein WM, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG. Johnston JJ, et al. Among authors: zein wm. Am J Hum Genet. 2015 Jun 4;96(6):913-25. doi: 10.1016/j.ajhg.2015.04.013. Am J Hum Genet. 2015. PMID: 26046366 Free PMC article.
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.
Malicdan MC, Vilboux T, Stephen J, Maglic D, Mian L, Konzman D, Guo J, Yildirimli D, Bryant J, Fischer R, Zein WM, Snow J, Vemulapalli M, Mullikin JC, Toro C, Solomon BD, Niederhuber JE; NISC Comparative Sequencing Program; Gahl WA, Gunay-Aygun M. Malicdan MC, et al. Among authors: zein wm. J Med Genet. 2015 Dec;52(12):830-9. doi: 10.1136/jmedgenet-2015-103316. Epub 2015 Sep 18. J Med Genet. 2015. PMID: 26386044 Free PMC article.
117 results