Concepedia

WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins

Linda M. Reis, Samuel Thompson, Katherine Agre, Dusica Babovic‐Vuksanovic, Marissa S. Ellingson, Linda Hasadsri, Yolande van Bever, Elena V. Semina

Human Genetics · 2021 · 14 citations · 32 references

DOIFull text

Open access

Concepts

References

32

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

, , +17

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 Ensembl Variant Effect Predictor

William McLaren, Laurent Gil, Sarah Hunt et al. · Genome biology · 2016 · 8.7K citations · Full text

, , +17

UniProt: the universal protein knowledgebase in 2021

Alex Bateman, María Martin, Sandra Orchard et al. · Nucleic Acids Research · 2020 · 7K citations · Full text

, , +15

The BioPlex Network: A Systematic Exploration of the Human Interactome

Edward L. Huttlin, Lily Ting, Raphael J. Bruckner et al. · Cell · 2015 · 1.5K citations · Full text

, , +14