Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder-Reference-Cited by-同舟云学术

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

Published:2022-08 Issue:8 Volume:24 Page:1774-1780
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Cuinat Silvestre^ORCID,Nizon Mathilde,Isidor Bertrand,Stegmann Alexander,van Jaarsveld Richard H.,van Gassen Koen L.,van der Smagt Jasper J.,Volker-Touw Catharina M.L.,Holwerda Sjoerd J.B.,Terhal Paulien A.,Schuhmann Sarah,Vasileiou Georgia,Khalifa Mohamed,Nugud Alaa A.,Yasaei Hemad,Ousager Lilian Bomme,Brasch-Andersen Charlotte,Deb Wallid,Besnard Thomas,Simon Marleen E.H.,Amsterdam Karin Huijsdens-van,Verbeek Nienke E.,Matalon Dena,Dykzeul Natalie,White Shana,Spiteri Elizabeth,Devriendt Koen,Boogaerts Anneleen,Willemsen Marjolein,Brunner Han G.,Sinnema Margje,De Vries Bert B.A.,Gerkes Erica H.,Pfundt Rolph,Izumi Kosuke,Krantz Ian D.,Xu Zhou L.,Murrell Jill R.,Valenzuela Irene,Cusco Ivon,Rovira-Moreno Eulàlia,Yang Yaping,Bizaoui Varoona,Patat Olivier,Faivre Laurence,Tran-Mau-Them Frederic,Vitobello Antonio,Denommé-Pichon Anne-Sophie,Philippe Christophe,Bezieau Stéphane,Cogné Benjamin

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference19 articles.

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3. Cloning and characterization of a novel RNA-binding protein SRL300 with RS domains;Sawada;Biochim Biophys Acta,2000

4. The SRm160/300 splicing coactivator subunits;Blencowe;RNA,2000

5. Physical and genetic interactions of yeast Cwc21p, an ortholog of human SRm300/SRRM2, suggest a role at the catalytic center of the spliceosome;Grainger;RNA,2009

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1. SRRM2 may be a potential biomarker and immunotherapy target for multiple myeloma: a real-world study based on flow cytometry detection;Clinical and Experimental Medicine;2024-01-30

2. SRRM2 splicing factor modulates cell fate in early development;2023-12-15

3. Correspondence on “Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder” by Cuinat et al.;Genetics in Medicine;2023-09

4. Response to Chunquan Cai et al;Genetics in Medicine;2023-09

5. Familial and genetic association with neurodevelopmental disorders caused by a heterozygous variant in the SRRM2 gene;Frontiers in Endocrinology;2023-08-09