Concepedia

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

Alexandria T.M. Blackburn, Nasim Bekheirnia, Vanessa C. Uma, Mark E. Corkins, Yuxiao Xu, Jill A. Rosenfeld, Matthew N. Bainbridge, Yaping Yang, Pengfei Liu, Suneeta Madan‐Khetarpal,

Genetics in Medicine · 2019 · 37 citations · 31 references

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References

31

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

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

Large-scale discovery of novel genetic causes of developmental disorders

Nature · 2014 · 1.2K citations · Full text

, , +16

Distinct and sequential tissue-specific activities of the LIM-class homeobox gene <i>Lim1</i> for tubular morphogenesis during kidney development

Akio Kobayashi, Kin Ming Kwan, Thomas J. Carroll et al. · Development · 2005 · 353 citations · Full text

, , +17

Activation-Loop Autophosphorylation Is Mediated by a Novel Transitional Intermediate Form of DYRKs

Pamela A. Lochhead, Gary Sibbet, Nick Morrice et al. · Cell · 2005 · 325 citations · Full text

, , +7