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  1. Benoit-Pilven, Clara; Besson, Alicia; Putoux, Audrey; Benetollo, Claire; Saccaro, Clément; Guguin, Justine; Sala, Gabriel; Cologne, Audric; Delous, Marion; Lesca, Gaetan; Padgett, Richard A.; Leutenegger, Anne-Louise; Lacroix, Vincent; Edery, Patrick; Mazoyer, Sylvie

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

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    Public Library of Science (PLoS), 2020

    Published in: PLOS ONE, 15 (2020) 7, Seite e0235655

  2. Dinur Schejter, Yael; Ovadia, Adi; Alexandrova, Roumiana; Thiruvahindrapuram, Bhooma; Pereira, Sergio L.; Manson, David E.; Vincent, Ajoy; Merico, Daniele; Roifman, Chaim M.

    A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome

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    Springer Science and Business Media LLC, 2017

    Published in: npj Genomic Medicine, 2 (2017) 1

  3. Elsaid, Mahmoud Fawzi; Chalhoub, Nader; Ben‐Omran, Tawfeg; Kumar, Pankaj; Kamel, Hussein; Ibrahim, Khalid; Mohamoud, Yasmin; Al‐Dous, Eman; Al‐Azwani, Iman; Malek, Joel A.; Suhre, Karsten; Ross, M. Elizabeth; Aleem, Alice Abdel

    Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia

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    Wiley, 2017

    Published in: Annals of Neurology, 81 (2017) 1, Seite 68-78

  4. Tessereau, Chloé; Lesecque, Yann; Monnet, Nastasia; Buisson, Monique; Barjhoux, Laure; Léoné, Mélanie; Feng, Bingjian; Goldgar, David E.; Sinilnikova, Olga M.; Mousset, Sylvain; Duret, Laurent; Mazoyer, Sylvie

    Estimation of theRNU2macrosatellite mutation rate byBRCA1mutation tracing

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    Oxford University Press (OUP), 2014

    Published in: Nucleic Acids Research, 42 (2014) 14, Seite 9121-9130

  5. Tessereau, Chloé; Buisson, Monique; Monnet, Nastasia; Imbert, Marine; Barjhoux, Laure; Schluth-Bolard, Caroline; Sanlaville, Damien; Conseiller, Emmanuel; Ceppi, Maurizio; Sinilnikova, Olga M.; Mazoyer, Sylvie

    Direct Visualization of the Highly Polymorphic RNU2 Locus in Proximity to the BRCA1 Gene

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    Public Library of Science (PLoS), 2013

    Published in: PLoS ONE, 8 (2013) 10, Seite e76054

  6. MASUI, Norio; NISHIKAWA, Tetsu; TAKAGI, Yumie; KIMURA, Hiromitsu; MORI, Masayuki; YOKOSE, Shigeo; ASAI, Hidekazu; GONDA, Toshihiko; YANABE, Makoto; SATO, Katsunori

    Establishment of a Set of Combined Immunodeficient DA/Slc-Foxn1rnu Lystbg Congenic Rat Strains

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    Japanese Association for Laboratory Animal Science, 2004

    Published in: Experimental Animals, 53 (2004) 5, Seite 399-407

  7. Almentina Ramos Shidi, Fatimat; Cologne, Audric; Delous, Marion; Besson, Alicia; Putoux, Audrey; Leutenegger, Anne-Louise; Lacroix, Vincent; Edery, Patrick; Mazoyer, Sylvie; Bordonné, Rémy

    Mutations in the non-codingRNU4ATACgene affect the homeostasis and function of the Integrator complex

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    Oxford University Press (OUP), 2023

    Published in: Nucleic Acids Research, 51 (2023) 2, Seite 712-727

  8. McMillan, Hugh J.; Davila, Jorge; Osmond, Matt; Chakraborty, Pranesh; Boycott, Kym M.; Dyment, David A.; Kernohan, Kristin D.

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

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    Wiley, 2021

    Published in: American Journal of Medical Genetics Part A, 185 (2021) 11, Seite 3502-3506