Concepedia

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Jing Zhang, Tomasz Gambin, Bo Yuan, Przemysław Szafrański, Jill A. Rosenfeld, Mohammed Al Balwi, Abdulrahman Alswaid, Lihadh Al‐Gazali, Aisha M. Al Shamsi, Makanko Komara,

Human Genetics · 2017 · 63 citations · 20 references

DOI

Concepts

References

20

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

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Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang, Donna M. Muzny, Fan Xia et al. · JAMA · 2014 · 1.4K citations

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Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

Dalila Pinto, Elsa Delaby, Daniele Merico et al. · The American Journal of Human Genetics · 2014 · 1K citations · Full text

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Recurrent de novo mutations implicate novel genes underlying simplex autism risk

Brian J. O’Roak, Holly A.F. Stessman, Evan A. Boyle et al. · Nature Communications · 2014 · 348 citations · Full text

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TRIP12 and UBR5 Suppress Spreading of Chromatin Ubiquitylation at Damaged Chromosomes

Matthias Altmeyer, Velibor Savic, Luis Toledo et al. · Cell · 2012 · 342 citations · Full text

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