Concepedia

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

Kosuke Izumi, Maggie Brett, Eriko Nishi, Séverine Drunat, Ee‐Shien Tan, Katsunori Fujiki, Sophie Lebon, Breana Cham, Koji Masuda, Michiko Arakawa,

The American Journal of Human Genetics · 2016 · 86 citations · 32 references

DOIFull text

Open access

Concepts

References

32

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

, , +17

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

Measuring ER Stress and the Unfolded Protein Response Using Mammalian Tissue Culture System

Christine M. Oslowski, Fumihiko Urano · Methods in enzymology on CD-ROM/Methods in enzymology · 2011 · 946 citations

, , +12

Mutations in the ER–Golgi Intermediate Compartment Protein ERGIC-53 Cause Combined Deficiency of Coagulation Factors V and VIII

William C. Nichols, Uri Seligsohn, Ariella Zivelin et al. · Cell · 1998 · 464 citations · Full text

, , +12

Quantitative Proteomics Analysis of the Secretory Pathway

Annalyn Gilchrist, Catherine Au, Johan Hiding et al. · Cell · 2006 · 455 citations · Full text

, , +14