Concepedia

Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex

Katarzyna Klonowska, Krinio Giannikou, Joannes M. Grevelink, Barbara Boeszoermenyi, Aaron R. Thorner, Zachary T. Herbert, Antara Afrin, Alison Treichel, Lana Hamieh, Katarzyna Kotulska,

The American Journal of Human Genetics · 2023 · 31 citations · 24 references

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24

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

Mutation and Cancer: Statistical Study of Retinoblastoma

Alfred G. Knudson · Proceedings of the National Academy of Sciences · 1971 · 7.6K citations · Full text

, , +16

ClinVar: improving access to variant interpretations and supporting evidence

Melissa Landrum, Jennifer M. Lee, Mark J. Benson et al. · Nucleic Acids Research · 2017 · 4.5K citations · Full text

, , +17

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

François-Olivier Desmet, Dalil Hamroun, Marine Lalande et al. · Nucleic Acids Research · 2009 · 2.5K citations · Full text

, , +14