Concepedia

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

Isabelle Schrauwen, Hanne Valgaeren, Laura Tomás‐Roca, Manou Sommen, Umut Altunoğlu, Mieke Wesdorp, Matthias Beyens, Erik Fransen, Geert Vandeweyer, Anne Schepers,

Genetics in Medicine · 2018 · 24 citations · 33 references

DOIFull text

Open access

Concepts

References

33

UCSF Chimera—A visualization system for exploratory research and analysis

Eric F. Pettersen, Thomas D. Goddard, Conrad C. Huang et al. · Journal of Computational Chemistry · 2004 · 47.8K citations

, , +17

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

Primer3—new capabilities and interfaces

Andreas Untergasser, Ioana Cutcutache, Triinu Kõressaar et al. · Nucleic Acids Research · 2012 · 9.8K citations · Full text

, , +9

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

Brian J. O’Roak, Laura Vives, Wenqing Fu et al. · Science · 2012 · 1.3K citations · Full text

, , +14

Six Genes Expressed in Bones and Teeth Encode the Current Members of the SIBLING Family of Proteins

Larry W. Fisher, Neal S. Fedarko · Connective Tissue Research · 2003 · 459 citations

, , +14