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Year Number of Results
2002 1
2003 2
2006 2
2008 2
2009 1
2010 2
2011 4
2012 3
2013 6
2014 4
2015 4
2016 4
2017 8
2018 5
2019 7
2020 12
2021 11
2022 13
2023 10
2024 7
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95 results

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Page 1
Healthcare recommendations for Joubert syndrome.
Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D'Arrigo S, Glass IA, Heller T, Héon E, Hildebrandt F, Joshi N, Knutzen D, Kroes HY, Mack SH, Nuovo S, Parisi MA, Snow J, Summers AC, Symons JM, Zein WM, Boltshauser E, Sayer JA, Gunay-Aygun M, Valente EM, Doherty D. Bachmann-Gagescu R, et al. Among authors: zein wm. Am J Med Genet A. 2020 Jan;182(1):229-249. doi: 10.1002/ajmg.a.61399. Epub 2019 Nov 11. Am J Med Genet A. 2020. PMID: 31710777 Free PMC article. Review.
Intrathecal Gene Therapy for Giant Axonal Neuropathy.
Bharucha-Goebel DX, Todd JJ, Saade D, Norato G, Jain M, Lehky T, Bailey RM, Chichester JA, Calcedo R, Armao D, Foley AR, Mohassel P, Tesfaye E, Carlin BP, Seremula B, Waite M, Zein WM, Huryn LA, Crawford TO, Sumner CJ, Hoke A, Heiss JD, Charnas L, Hooper JE, Bouldin TW, Kang EM, Rybin D, Gray SJ, Bönnemann CG; GAN Trial Team. Bharucha-Goebel DX, et al. Among authors: zein wm. N Engl J Med. 2024 Mar 21;390(12):1092-1104. doi: 10.1056/NEJMoa2307952. N Engl J Med. 2024. PMID: 38507752 Free PMC article.
Chedíak-Higashi Syndrome: Hair-to-toe spectrum.
Greene S, Soldatos A, Toro C, Zein WM, Snow J, Lehky TJ, Malicdan MCV, Introne WJ. Greene S, et al. Among authors: zein wm. Semin Pediatr Neurol. 2024 Dec;52:101168. doi: 10.1016/j.spen.2024.101168. Epub 2024 Nov 8. Semin Pediatr Neurol. 2024. PMID: 39622608 Review.
Genotype-Phenotype Association in ABCA4-Associated Retinopathy.
Pfau M, Zein WM, Huryn LA, Cukras CA, Jeffrey BG, Hufnagel RB, Brooks BP. Pfau M, et al. Among authors: zein wm. Adv Exp Med Biol. 2023;1415:289-295. doi: 10.1007/978-3-031-27681-1_42. Adv Exp Med Biol. 2023. PMID: 37440047 Free PMC article.
Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies.
Malechka VV, Cukras CA, Chew EY, Sergeev YV, Blain D, Jeffrey BG, Ullah E, Hufnagel RB, Brooks BP, Huryn LA, Zein WM. Malechka VV, et al. Among authors: zein wm. Genes (Basel). 2022 May 22;13(5):925. doi: 10.3390/genes13050925. Genes (Basel). 2022. PMID: 35627310 Free PMC article.
Atypical and ultra-rare Usher syndrome: a review.
Nolen RM, Hufnagel RB, Friedman TB, Turriff AE, Brewer CC, Zalewski CK, King KA, Wafa TT, Griffith AJ, Brooks BP, Zein WM. Nolen RM, et al. Among authors: zein wm. Ophthalmic Genet. 2020 Oct;41(5):401-412. doi: 10.1080/13816810.2020.1747090. Epub 2020 May 6. Ophthalmic Genet. 2020. PMID: 32372680 Free PMC article. Review.
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
Williams LB, Javed A, Sabri A, Morgan DJ, Huff CD, Grigg JR, Heng XT, Khng AJ, Hollink IHIM, Morrison MA, Owen LA, Anderson K, Kinard K, Greenlees R, Novacic D, Nida Sen H, Zein WM, Rodgers GM, Vitale AT, Haider NB, Hillmer AM, Ng PC, Shankaracharya, Cheng A, Zheng L, Gillies MC, van Slegtenhorst M, van Hagen PM, Missotten TOAR, Farley GL, Polo M, Malatack J, Curtin J, Martin F, Arbuckle S, Alexander SI, Chircop M, Davila S, Digre KB, Jamieson RV, DeAngelis MM. Williams LB, et al. Among authors: zein wm. Genet Med. 2019 Sep;21(9):2103-2115. doi: 10.1038/s41436-019-0476-3. Epub 2019 Apr 10. Genet Med. 2019. PMID: 30967659 Free PMC article.
SLC16A8 is a causal contributor to age-related macular degeneration risk.
Nouri N, Gussler BH, Stockwell A, Truong T, Kang GJ, Browder KC, Malato Y, Sene A, Van Everen S, Wykoff CC, Brown D, Fu A, Palmer JD, Lima de Carvalho JR, Ullah E, Al Rawi R, Chew EY, Zein WM, Guan B, McCarthy MI, Hofmann JW, Chaney SY, Jasper H, Yaspan BL. Nouri N, et al. Among authors: zein wm. NPJ Genom Med. 2024 Oct 28;9(1):50. doi: 10.1038/s41525-024-00442-8. NPJ Genom Med. 2024. PMID: 39468037 Free PMC article.
Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB-Mediated Autoinflammatory Disease with Retinal Dystrophy.
Huryn LA, Kozycki CT, Serpen JY, Zein WM, Ullah E, Iannaccone A, Williams LB, Sobrin L, Brooks BP, Sen HN, Hufnagel RB, Kastner DL, Kodati S. Huryn LA, et al. Among authors: zein wm. Ophthalmology. 2023 Apr;130(4):423-432. doi: 10.1016/j.ophtha.2022.10.026. Epub 2022 Nov 2. Ophthalmology. 2023. PMID: 36332842 Free PMC article.
95 results