Concepedia

Expanding the genetic heterogeneity of intellectual disability

Shams Anazi, Sateesh Maddirevula, Vincenzo Salpietro, Yasmine T. Asi, Saud Alsahli, Amal Alhashem, Hanan E. Shamseldin, Fatema Alzahrani, Nisha Patel, Niema Ibrahim,

Human Genetics · 2017 · 176 citations · 40 references

DOI

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References

40

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 SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

Konstantin Arnold, Lorenza Bordoli, Jürgen Kopp et al. · Bioinformatics · 2005 · 7.1K citations · Full text

, , +12

De novo assembly of bacterial transcriptomes from RNA-seq data

Brian Tjaden · Genome Biology · 2015 · 1.8K 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

Large-scale discovery of novel genetic causes of developmental disorders

Nature · 2014 · 1.2K citations · Full text

, , +16