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DYX1C1 is required for axonemal dynein assembly and ciliary motility A Tarkar, NT Loges, CE Slagle, R Francis, GW Dougherty, JV Tamayo, ... Nature genetics 45 (9), 995-1003, 2013 | 316 | 2013 |
The complex genetics of hypoplastic left heart syndrome X Liu, H Yagi, S Saeed, AS Bais, GC Gabriel, Z Chen, KA Peterson, Y Li, ... Nature genetics 49 (7), 1152-1159, 2017 | 207 | 2017 |
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation R Hjeij, A Onoufriadis, CM Watson, CE Slagle, NT Klena, GW Dougherty, ... The American Journal of Human Genetics 95 (3), 257-274, 2014 | 181 | 2014 |
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families N Akawi, J McRae, M Ansari, M Balasubramanian, M Blyth, AF Brady, ... Nature genetics 47 (11), 1363-1369, 2015 | 167 | 2015 |
A helical inner scaffold provides a structural basis for centriole cohesion M Le Guennec, N Klena, D Gambarotto, MH Laporte, AM Tassin, ... Science advances 6 (7), eaaz4137, 2020 | 116 | 2020 |
In situ architecture of the ciliary base reveals the stepwise assembly of intraflagellar transport trains H Van den Hoek, N Klena, MA Jordan, G Alvarez Viar, RD Righetto, ... Science 377 (6605), 543-548, 2022 | 89 | 2022 |
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates A Guimier, GC Gabriel, F Bajolle, M Tsang, H Liu, A Noll, M Schwartz, ... Nature genetics 47 (11), 1260-1263, 2015 | 79 | 2015 |
Genetic link between renal birth defects and congenital heart disease JT San Agustin, N Klena, K Granath, A Panigrahy, E Stewart, W Devine, ... Nature communications 7 (1), 11103, 2016 | 75 | 2016 |
Cilia and ciliopathies in congenital heart disease NT Klena, BC Gibbs, CW Lo Cold Spring Harbor Perspectives in Biology 9 (8), a028266, 2017 | 65 | 2017 |
Structural biology of cilia and intraflagellar transport N Klena, G Pigino Annual Review of Cell and Developmental Biology 38, 103-123, 2022 | 62 | 2022 |
ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning PG Czarnecki, GC Gabriel, DK Manning, M Sergeev, K Lemke, NT Klena, ... Nature communications 6 (1), 6023, 2015 | 54 | 2015 |
Visualizing the native cellular organization by coupling cryofixation with expansion microscopy (Cryo-ExM) MH Laporte, N Klena, V Hamel, P Guichard Nature methods 19 (2), 216-222, 2022 | 51 | 2022 |
Cyclic Di-GMP phosphodiesterases RmdA and RmdB are involved in regulating colony morphology and development in Streptomyces coelicolor TD Hull, MH Ryu, MJ Sullivan, RC Johnson, NT Klena, RM Geiger, ... Journal of bacteriology 194 (17), 4642-4651, 2012 | 51 | 2012 |
Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6 BP Prins, TJ Mead, JA Brody, G Sveinbjornsson, I Ntalla, NA Bihlmeyer, ... Genome biology 19, 1-17, 2018 | 50 | 2018 |
Overview of the centriole architecture M LeGuennec, N Klena, G Aeschlimann, V Hamel, P Guichard Current opinion in structural biology 66, 58-65, 2021 | 48 | 2021 |
Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia Y Li, AS Garrod, S Madan‐Khetarpal, G Sreedher, M McGuire, H Yagi, ... American journal of medical genetics Part A 167 (9), 2188-2196, 2015 | 44 | 2015 |
Architecture of the centriole cartwheel‐containing region revealed by cryo‐electron tomography N Klena, M Le Guennec, AM Tassin, H van Den Hoek, PS Erdmann, ... The EMBO journal 39 (22), e106246, 2020 | 35 | 2020 |
Assessment of ciliary phenotype in primary ciliary dyskinesia by micro-optical coherence tomography GM Solomon, R Francis, KK Chu, SE Birket, G Gabriel, JE Trombley, ... JCI insight 2 (5), 2017 | 35 | 2017 |
Role of cilia in structural birth defects: insights from ciliopathy mutant mouse models R Rao Damerla, GC Gabriel, Y Li, NT Klena, X Liu, Y Chen, C Cui, ... Birth Defects Research Part C: Embryo Today: Reviews 102 (2), 115-125, 2014 | 28 | 2014 |