PubMed (Bookshelf cited) for id: 375801

Year	Number of Results
1975	1
1985	1
1989	1
1995	1
1998	2
1999	1
2000	1
2001	1
2006	1
2010	1
2011	6
2012	3
2013	1
2014	1
2015	4
2016	4
2017	4
2018	4
2019	2
2020	3
2021	3
2023	0

1

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

2

Structure of the activated human minor spliceosome.

Bai R, Wan R, Wang L, Xu K, Zhang Q, Lei J, Shi Y. Bai R, et al. Science. 2021 Mar 19;371(6535):eabg0879. doi: 10.1126/science.abg0879. Epub 2021 Jan 28. Science. 2021. PMID: 33509932

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

Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene.

Benoit-Pilven C, Besson A, Putoux A, Benetollo C, Saccaro C, Guguin J, Sala G, Cologne A, Delous M, Lesca G, Padgett RA, Leutenegger AL, Lacroix V, Edery P, Mazoyer S. Benoit-Pilven C, et al. PLoS One. 2020 Jul 6;15(7):e0235655. doi: 10.1371/journal.pone.0235655. eCollection 2020. PLoS One. 2020. PMID: 32628740 Free PMC article.

5

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting.

Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. Stenson PD, et al. Hum Genet. 2020 Oct;139(10):1197-1207. doi: 10.1007/s00439-020-02199-3. Epub 2020 Jun 28. Hum Genet. 2020. PMID: 32596782 Free PMC article. Review.

6

Nosology and classification of genetic skeletal disorders: 2019 revision.

Mortier GR, Cohn DH, Cormier-Daire V, Hall C, Krakow D, Mundlos S, Nishimura G, Robertson S, Sangiorgi L, Savarirayan R, Sillence D, Superti-Furga A, Unger S, Warman ML. Mortier GR, et al. Am J Med Genet A. 2019 Dec;179(12):2393-2419. doi: 10.1002/ajmg.a.61366. Epub 2019 Oct 21. Am J Med Genet A. 2019. PMID: 31633310

7

New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients.

Cologne A, Benoit-Pilven C, Besson A, Putoux A, Campan-Fournier A, Bober MB, De Die-Smulders CEM, Paulussen ADC, Pinson L, Toutain A, Roifman CM, Leutenegger AL, Mazoyer S, Edery P, Lacroix V. Cologne A, et al. RNA. 2019 Sep;25(9):1130-1149. doi: 10.1261/rna.071423.119. Epub 2019 Jun 7. RNA. 2019. PMID: 31175170 Free PMC article.

8

Extending the critical regions for mutations in the non-coding gene RNU4ATAC in another patient with Roifman Syndrome.

Hallermayr A, Graf J, Koehler U, Laner A, Schönfeld B, Benet-Pagès A, Holinski-Feder E. Hallermayr A, et al. Clin Case Rep. 2018 Oct 11;6(11):2224-2228. doi: 10.1002/ccr3.1830. eCollection 2018 Nov. Clin Case Rep. 2018. PMID: 30455926 Free PMC article.

9

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

10

Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome.

Heremans J, Garcia-Perez JE, Turro E, Schlenner SM, Casteels I, Collin R, de Zegher F, Greene D, Humblet-Baron S, Lesage S, Matthys P, Penkett CJ, Put K, Stirrups K; National Institute for Health Research BioResource; Thys C, Van Geet C, Van Nieuwenhove E, Wouters C, Meyts I, Freson K, Liston A. Heremans J, et al. J Allergy Clin Immunol. 2018 Aug;142(2):630-646. doi: 10.1016/j.jaci.2017.11.061. Epub 2018 Jan 31. J Allergy Clin Immunol. 2018. PMID: 29391254

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