Concepedia

Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome

Eden Engal, Kaisa Teele Oja, Reza Maroofian, Ophir Geminder, Thuy-Linh Le, Pauline Marzin, Anne Guimier, Evyatar Mor, Naama Zvi, Naama Elefant,

The American Journal of Human Genetics · 2023 · 16 citations · 20 references

DOIFull text

Open access

Concepts

References

20

Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2

Michael I. Love, Wolfgang Huber, Simon Anders · Genome biology · 2014 · 100.5K citations · Full text

, , +15

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text

, , +17

The Genotype-Tissue Expression (GTEx) project.

PubMed · 2013 · 10K citations · Full text

, , +17

rMATS: Robust and flexible detection of differential alternative splicing from replicate RNA-Seq data

Shihao Shen, Juw Won Park, Zhixiang Lu et al. · Proceedings of the National Academy of Sciences · 2014 · 2.9K citations · Full text

, , +16

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

Nara Sobreira, François Schiettecatte, David Valle et al. · Human Mutation · 2015 · 1.6K citations · Full text

, , +15