Similar articles for PMID: 29265708

Year	Number of Results
1982	3
1986	2
1987	1
1989	1
1991	1
1993	2
1996	1
1998	2
2000	3
2002	1
2004	1
2006	1
2008	5
2009	1
2010	3
2011	9
2012	12
2013	9
2014	14
2015	9
2016	14
2017	9
2018	16
2019	19
2020	40
2021	31
2022	24
2023	15
2024	0

1

The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.

Farach LS, Little ME, Duker AL, Logan CV, Jackson A, Hecht JT, Bober M. Farach LS, et al. Am J Med Genet A. 2018 Feb;176(2):465-469. doi: 10.1002/ajmg.a.38581. Epub 2017 Dec 19. Am J Med Genet A. 2018. PMID: 29265708 Free PMC article.

2

Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.

Putoux A, Alqahtani A, Pinson L, Paulussen AD, Michel J, Besson A, Mazoyer S, Borg I, Nampoothiri S, Vasiljevic A, Uwineza A, Boggio D, Champion F, de Die-Smulders CE, Gardeitchik T, van Putten WK, Perez MJ, Musizzano Y, Razavi F, Drunat S, Verloes A, Hennekam R, Guibaud L, Alix E, Sanlaville D, Lesca G, Edery P. Putoux A, et al. Clin Genet. 2016 Dec;90(6):550-555. doi: 10.1111/cge.12781. Epub 2016 Jun 2. Clin Genet. 2016. PMID: 27040866 Free article.

3

Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome.

Hagiwara H, Matsumoto H, Uematsu K, Zaha K, Sekinaka Y, Miyake N, Matsumoto N, Nonoyama S. Hagiwara H, et al. Brain Dev. 2021 Feb;43(2):337-342. doi: 10.1016/j.braindev.2020.09.007. Epub 2020 Oct 12. Brain Dev. 2021. PMID: 33059947

4

Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.

Shelihan I, Ehresmann S, Magnani C, Forzano F, Baldo C, Brunetti-Pierri N, Campeau PM. Shelihan I, et al. Hum Genet. 2018 Dec;137(11-12):905-909. doi: 10.1007/s00439-018-1950-8. Epub 2018 Oct 27. Hum Genet. 2018. PMID: 30368667

5

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

Merico D, Roifman M, Braunschweig U, Yuen RK, Alexandrova R, Bates A, Reid B, Nalpathamkalam T, Wang Z, Thiruvahindrapuram B, Gray P, Kakakios A, Peake J, Hogarth S, Manson D, Buncic R, Pereira SL, Herbrick JA, Blencowe BJ, Roifman CM, Scherer SW. Merico D, et al. Nat Commun. 2015 Nov 2;6:8718. doi: 10.1038/ncomms9718. Nat Commun. 2015. PMID: 26522830 Free PMC article.

6

Delineating the phenotype of RNU4ATAC-related spliceosomopathy.

Tabib A, Richmond CM, McGaughran J. Tabib A, et al. Am J Med Genet A. 2023 Apr;191(4):1094-1100. doi: 10.1002/ajmg.a.63110. Epub 2023 Jan 9. Am J Med Genet A. 2023. PMID: 36622817

7

Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.

Wang Y, Wu X, Du L, Zheng J, Deng S, Bi X, Chen Q, Xie H, Férec C, Cooper DN, Luo Y, Fang Q, Chen JM. Wang Y, et al. Hum Genomics. 2018 Jan 25;12(1):3. doi: 10.1186/s40246-018-0135-9. Hum Genomics. 2018. PMID: 29370840 Free PMC article.

8

Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature.

McMillan HJ, Davila J, Osmond M, Chakraborty P; Care4Rare Canada Consortium; Boycott KM, Dyment DA, Kernohan KD. McMillan HJ, et al. Am J Med Genet A. 2021 Nov;185(11):3502-3506. doi: 10.1002/ajmg.a.62457. Epub 2021 Aug 18. Am J Med Genet A. 2021. PMID: 34405953

9

Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.

Abdel-Salam GM, Abdel-Hamid MS, Issa M, Magdy A, El-Kotoury A, Amr K. Abdel-Salam GM, et al. Am J Med Genet A. 2012 Jun;158A(6):1455-61. doi: 10.1002/ajmg.a.35356. Epub 2012 May 11. Am J Med Genet A. 2012. PMID: 22581640

10

Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.

Nagy R, Wang H, Albrecht B, Wieczorek D, Gillessen-Kaesbach G, Haan E, Meinecke P, de la Chapelle A, Westman JA. Nagy R, et al. Clin Genet. 2012 Aug;82(2):140-6. doi: 10.1111/j.1399-0004.2011.01756.x. Epub 2011 Aug 28. Clin Genet. 2012. PMID: 21815888 Free PMC article.

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