Concepedia

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

Konrad Platzer, Heinrich Sticht, Stacey L. Edwards, William Allen, Kaitlin M. Angione, Maria Teresa Bonati, Campbell K. Brasington, Megan T. Cho, Laurie Demmer, Tzipora C. Falik‐Zaccai,

The American Journal of Human Genetics · 2019 · 77 citations · 27 references

Open access

Concepts

Life SciencesGeneticsMolecular GeneticsHuman GeneticsIntellectual DisabilitiesMedical GeneticsCongenital Brain MalformationsGenetic DisordersIntellectual Disability GeneticsNeurodevelopmental DisordersNeurodevelopmental GeneticsNeurogenetic DisordersAutosomal Dominant Intellectual DisabilityDe Novo Mutations In Developmental DisordersIntellectual Disability Copy Number VariantsIntellectual Disability SyndromesNeurodevelopmental Copy Number VariantsNeurodevelopmental Disorder MutationsRare De Novo Variant Analysis

References

27

SWISS‐MODEL and the Swiss‐Pdb Viewer: An environment for comparative protein modeling

Nicolas Guex, Manuel C. Peitsch · Electrophoresis · 1997 · 11.3K citations

Life Sciences, Biochemistry, Bioinformatics +7

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The contribution of de novo coding mutations to autism spectrum disorder

Ivan Iossifov, Brian J. O’Roak, Stephan Sanders et al. · Nature · 2014 · 2.8K citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

RASMOL: biomolecular graphics for all

Roger A. Sayle · Trends in Biochemical Sciences · 1995 · 2.6K citations

Engineering, Bioinformatics, Biophysics +11

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

Life Sciences, Bioinformatics, Genetics +15