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E. Otto · SciRah

Researcher profile · Semantic Scholar

E. Otto

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E. Otto — researcher profile on SciRah

h-index: 76
Works: 162
Citations: 20K

Most-cited papers

An atlas of healthy and injured cell states and niches in the human kidney
B. Lake, Rajasree Menon, S. Winfree, Qiwen Hu +166 more
2021bioRxiv671 citations Open access
Semantic Scholar
A Transition Zone Complex Regulates Mammalian Ciliogenesis and Ciliary Membrane Composition
F. Garcia-Gonzalo, K. Corbit, M. Sirerol-Piquer, G. Ramaswami +10 more
2011Nature Genetics663 citations Open access
Semantic Scholar
Mapping the Nephronophthisis-Joubert-Meckel-Gruber Protein Network Reveals Ciliopathy Disease Genes and Pathways
Liyun Sang, Julie J. Miller, K. Corbit, R. Giles +28 more
2011Cell592 citations Open access
Semantic Scholar
High-throughput automation enhances kidney organoid differentiation from human pluripotent stem cells and enables multidimensional phenotypic screening
Stefan M Czerniecki, N. Cruz, J. Harder, Rajasree Menon +15 more
2018Cell Stem Cell416 citations Open access
Semantic Scholar
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling
M. Chaki, Rannar Airik, A. Ghosh, R. Giles +71 more
2012Cell392 citations Open access
Semantic Scholar
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
E. Davis, Qi Zhang, Qin Liu, B. Diplas +43 more
2011Nature Genetics368 citations Open access
Semantic Scholar
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
S. Ashraf, H. Gee, Stephanie L. Woerner, Le-Tian X. Xie +41 more
2013Journal of Clinical Investigation324 citations Open access
Semantic Scholar
MYO1E MUTATIONS AND CHILDHOOD FAMILIAL FOCAL SEGMENTAL GLOMERULOSCLEROSIS
C. Mele, Paraskevas Iatropoulos, R. Donadelli, A. Calabria +22 more
2011New England Journal of Medicine253 citations Open access
Semantic Scholar
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair
Wei-Bin Zhou, E. Otto, A. Cluckey, Rannar Airik +40 more
2012Nature Genetics235 citations Open access
Semantic Scholar
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy
J. Halbritter, Jonathan D. Porath, Katrina A. Diaz, Daniela A. Braun +6 more
2013Human Genetics231 citations Open access
Semantic Scholar
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.
H. Gee, P. Saisawat, S. Ashraf, T. Hurd +26 more
2013Journal of Clinical Investigation231 citations Open access
Semantic Scholar
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
J. Halbritter, A. Bizet, M. Schmidts, Jonathan D. Porath +45 more
2013American Journal of Human Genetics223 citations Open access
Semantic Scholar
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.
M. Knowles, L. Ostrowski, M. Leigh, P. Sears +32 more
2014American Journal of Respiratory and Critical Care Medicine207 citations Open access
Semantic Scholar
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
Sylvia Hoff, J. Halbritter, Daniel Epting, V. Frank +37 more
2013Nature Genetics201 citations Open access
Semantic Scholar
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.
C. Austin-Tse, J. Halbritter, M. Zariwala, Renée M. Gilberti +39 more
2013American Journal of Human Genetics192 citations Open access
Semantic Scholar
KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.
H. Gee, Fujian Zhang, S. Ashraf, Stefan Kohl +19 more
2015Journal of Clinical Investigation186 citations Open access
Semantic Scholar
Mutations in DZIP1L, which encodes a ciliary transition zone protein, cause autosomal recessive polycystic kidney disease
Hao Lu, Maria C. Rondón Galeano, Elisabeth B. Ott, Geraldine Kaeslin +29 more
2017Nature Genetics181 citations Open access
Semantic Scholar
An eQTL landscape of kidney tissue in human nephrotic syndrome
Christopher E. Gillies, Rosemary K B Putler, Rajasree Menon, E. Otto +96 more
2018bioRxiv170 citations Open access
Semantic Scholar
Single-cell analysis of progenitor cell dynamics and lineage specification in the human fetal kidney
Rajasree Menon, E. Otto, Austin Kokoruda, Jian Zhou +7 more
2018Development165 citations Open access
Semantic Scholar
Mutation Analysis of 18 Nephronophthisis-associated Ciliopathy Disease Genes using a DNA Pooling and Next-Generation Sequencing Strategy
E. Otto, G. Ramaswami, Sabine Janssen, M. Chaki +15 more
2010Journal of Medical Genetics153 citations Open access
Semantic Scholar
Single cell transcriptomics identifies focal segmental glomerulosclerosis remission endothelial biomarker.
Rajasree Menon, E. Otto, P. Hoover, S. Eddy +18 more
2020JCI Insight144 citations Open access
Semantic Scholar
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.
M. Knowles, L. Ostrowski, N. Loges, T. Hurd +37 more
2013American Journal of Human Genetics144 citations Open access
Semantic Scholar
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.
J. O'Toole, Yang-Jian Liu, E. Davis, Christopher J. Westlake +51 more
2010Journal of Clinical Investigation127 citations Open access
Semantic Scholar
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies
M. Chaki, J. Hoefele, Susan J. Allen, G. Ramaswami +5 more
2011Kidney International126 citations Open access
Semantic Scholar
FAT1 mutations cause a glomerulotubular nephropathy
H. Gee, C. E. Sadowski, P. Aggarwal, Jonathan D. Porath +38 more
2016Nature Communications125 citations Open access
Semantic Scholar
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome
Esther López-Rivera, Yangfan P. Liu, M. Verbitsky, Blair R. Anderson +78 more
2017New England Journal of Medicine122 citations Open access
Semantic Scholar
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling.
Markus Schueler, Daniela A. Braun, G. Chandrasekar, H. Gee +25 more
2015American Journal of Human Genetics121 citations Open access
Semantic Scholar
Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects.
M. Sampson, Catherine C. Robertson, S. Martini, L. Mariani +18 more
2016Journal of the American Society of Nephrology120 citations Open access
Semantic Scholar
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing
J. Halbritter, Katrina A. Diaz, M. Chaki, Jonathan D. Porath +9 more
2012Journal of Medical Genetics118 citations
Semantic Scholar
A reference tissue atlas for the human kidney
J. Hansen, Rachel S. G. Sealfon, Rajasree Menon, Michael T. Eadon +34 more
2020bioRxiv117 citations Open access
Semantic Scholar
Mutations in EMP2 cause childhood-onset nephrotic syndrome.
H. Gee, S. Ashraf, Xiaoyang Wan, V. Vega-Warner +16 more
2014American Journal of Human Genetics117 citations Open access
Semantic Scholar
AHI1 is required for outer segment development and is a modifier for retinal degeneration in nephronophthisis
Carrie M. Louie, G. Caridi, V. Lopes, F. Brancati +21 more
2010Nature Genetics110 citations Open access
Semantic Scholar
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.
Marion Failler, H. Gee, P. Krug, Kwangsic Joo +22 more
2014American Journal of Human Genetics107 citations Open access
Semantic Scholar
Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.
Bugsu Ovunc, E. Otto, V. Vega-Warner, P. Saisawat +8 more
2011Journal of the American Society of Nephrology106 citations Open access
Semantic Scholar
Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals
Sabine Janssen, G. Ramaswami, E. Davis, T. Hurd +8 more
2010Human Genetics96 citations Open access
Semantic Scholar
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity
Daniela A. Braun, Markus Schueler, J. Halbritter, H. Gee +18 more
2016Kidney International95 citations Open access
Semantic Scholar
SGLT2 inhibitors mitigate kidney tubular metabolic and mTORC1 perturbations in youth-onset type 2 diabetes
J. Schaub, Fadhl M. Alakwaa, P. McCown, Abhijit S. Naik +20 more
2023Journal of Clinical Investigation91 citations Open access
Semantic Scholar
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes
A. Waters, R. Asfahani, P. Carroll, L. Bicknell +29 more
2015Journal of Medical Genetics91 citations Open access
Semantic Scholar
Organoid single cell profiling identifies a transcriptional signature of glomerular disease.
J. Harder, Rajasree Menon, E. Otto, Jian Zhou +13 more
2019JCI Insight85 citations Open access
Semantic Scholar
Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis
P. Saisawat, V. Tasic, V. Vega-Warner, E. Kehinde +7 more
2011Kidney International85 citations Open access
Semantic Scholar
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.
S. Lovric, H. Fang, V. Vega-Warner, C. E. Sadowski +8 more
2014American Society of Nephrology. Clinical Journal81 citations Open access
Semantic Scholar
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
S. Sanna-Cherchi, Kamal Khan, R. Westland, Priya Krithivasan +45 more
2017American Journal of Human Genetics79 citations Open access
Semantic Scholar
Whole exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies
H. Gee, E. Otto, T. Hurd, S. Ashraf +37 more
2013Kidney International79 citations Open access
Semantic Scholar
A Multimodal and Integrated Approach to Interrogate Human Kidney Biopsies with Rigor and Reproducibility: Guidelines from the Kidney Precision Medicine Project.
Tarek M. El-Achkar, Michael T. Eadon, Rajasree Menon, B. Lake +37 more
2020Physiological Genomics72 citations Open access
Semantic Scholar
WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome
R. G. Coussa, E. Otto, H. Gee, P. Arthurs +10 more
2013Clinical Genetics70 citations Open access
Semantic Scholar
Precision nephrology identified tumor necrosis factor activation variability in minimal change disease and focal segmental glomerulosclerosis
L. Mariani, S. Eddy, Fadhl M. Alakwaa, P. McCown +62 more
2022Kidney International69 citations Open access
Semantic Scholar
SARS-CoV-2 receptor networks in diabetic and COVID-19–associated kidney disease
Rajasree Menon, E. Otto, Rachel S. G. Sealfon, V. Nair +28 more
2020Kidney International69 citations Open access
Semantic Scholar
TMEM 231 , mutated in orofaciodigital and Meckel syndromes , organizes the ciliary transition zone
E. Roberson, William E. Dowdle, Aysegul Ozanturk, F. Garcia-Gonzalo +17 more
201569 citations
Semantic Scholar
Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype.
T. Hurd, E. Otto, Eikan Mishima, H. Gee +13 more
2013Journal of the American Society of Nephrology68 citations Open access
Semantic Scholar
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
M. Reichold, E. Klootwijk, J. Reinders, E. Otto +50 more
2018Journal of the American Society of Nephrology66 citations Open access
Semantic Scholar

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Rannar Airik — researcher profile on SciRah

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