Associated Papers
Loss of an extensive ciliary connectome induces proteostasis and cell fate switching in a severe motile ciliopathy.
Brody SL et al.
Biorxiv : the Preprint Server for Biology, 2024
38562900 (PubMed )
Supplement: NIHPP2024.03.20.585965v1-supplement-2.pdf
The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes.
Horani A et al.
Jci Insight, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes.
Horani A et al.
Biorxiv : the Preprint Server for Biology, 2023
MNS1 variant associated with situs inversus and male infertility.
Leslie JS et al.
European Journal of Human Genetics : Ejhg, 2020
Genetic basis of human left-right asymmetry disorders.
Deng H et al.
Expert Reviews in Molecular Medicine, 2015
HEATR2 plays a conserved role in assembly of the ciliary motile apparatus.
Diggle CP et al.
Plos Genetics, 2014
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.
Knowles MR et al.
American Journal of Human Genetics, 2013
Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.
Ferkol TW et al.
The Journal of Pediatrics, 2013
Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.
Horani A et al.
American Journal of Human Genetics, 2012
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