Nicola Whiffin

24PUBLICATIONS
399CO-AUTHORS
Autonomic nervous systemNeurogeneticsCell and nuclear divisionMedical molecular engineering of nucleic acids and proteinsGenome structure and regulation
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Publications (24)

|Aug 20, 2026
Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs.

|Apr 08, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Rocio Rius, Alexander J M Blakes, Yuyang Chen

|Apr 08, 2026
Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.

Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji

|Jan 23, 2026
Modulating splicing in 5' untranslated regions to treat rare haploinsufficient disease.

Eloise S Beer Wells, Laura De Conti, Hyung Chul Kim

|Jul 03, 2025
The role of untranslated region variants in Mendelian disease: a review.

Nechama Wieder, Elston N D'Souza, Ruebena Dawes

|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Caroline Nava, Benjamin Cogne, Amandine Santini

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Frequent Collaborators

8 joint publications

James S Ware

7 joint publications

Rocio Rius

7 joint publications

Christel Depienne

6 joint publications

Yuyang Chen