A dynamic protein interaction landscape of the human centrosome-cilium interface GD Gupta, É Coyaud, J Gonçalves, BA Mojarad, Y Liu, Q Wu, ... Cell 163 (6), 1484-1499, 2015 | 528 | 2015 |
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans J Halbritter, AA Bizet, M Schmidts, JD Porath, DA Braun, HY Gee, ... The American Journal of Human Genetics 93 (5), 915-925, 2013 | 236 | 2013 |
Zebrafish ciliopathy screen plus human mutational analysis identifies C21orf59 and CCDC65 defects as causing primary ciliary dyskinesia C Austin-Tse, J Halbritter, MA Zariwala, RM Gilberti, HY Gee, N Hellman, ... The American Journal of Human Genetics 93 (4), 672-686, 2013 | 231 | 2013 |
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms MR Knowles, LE Ostrowski, NT Loges, T Hurd, MW Leigh, L Huang, ... The American Journal of Human Genetics 93 (4), 711-720, 2013 | 157 | 2013 |
Extracranial projections of meningeal afferents and their impact on meningeal nociception and headache M Schueler, K Messlinger, M Dux, WL Neuhuber, R De Col PAIN® 154 (9), 1622-1631, 2013 | 154 | 2013 |
Innervation of rat and human dura mater and pericranial tissues in the parieto‐temporal region by meningeal afferents M Schueler, WL Neuhuber, R De Col, K Messlinger Headache: The Journal of Head and Face Pain 54 (6), 996-1009, 2014 | 139 | 2014 |
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling M Schueler, DA Braun, G Chandrasekar, HY Gee, TD Klasson, J Halbritter, ... The American Journal of Human Genetics 96 (1), 81-92, 2015 | 127 | 2015 |
Mutations of CEP83 cause infantile nephronophthisis and intellectual disability M Failler, HY Gee, P Krug, K Joo, J Halbritter, L Belkacem, E Filhol, ... The American Journal of Human Genetics 94 (6), 905-914, 2014 | 123 | 2014 |
FAT1 mutations cause a glomerulotubular nephropathy HY Gee, CE Sadowski, PK Aggarwal, JD Porath, TA Yakulov, M Schueler, ... Nature communications 7 (1), 10822, 2016 | 121 | 2016 |
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity DA Braun, M Schueler, J Halbritter, HY Gee, JD Porath, JA Lawson, ... Kidney international 89 (2), 468-475, 2016 | 97 | 2016 |
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies M Schueler, J Halbritter, IG Phelps, DA Braun, EA Otto, JD Porath, ... Journal of medical genetics 53 (3), 208-214, 2016 | 56 | 2016 |
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction D Tiosano, HN Baris, A Chen, MM Hitzert, M Schueler, F Gulluni, ... PLoS genetics 15 (4), e1008088, 2019 | 50 | 2019 |
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype I Perrault, J Halbritter, JD Porath, X Gérard, DA Braun, HY Gee, HM Fathy, ... Journal of medical genetics 52 (10), 657-665, 2015 | 44 | 2015 |
Treatment with 2, 4-dihydroxybenzoic acid prevents FSGS progression and renal fibrosis in podocyte-specific Coq6 knockout mice E Widmeier, M Airik, H Hugo, D Schapiro, J Wedel, CC Ghosh, ... Journal of the American Society of Nephrology 30 (3), 393-405, 2019 | 40 | 2019 |
Mutations of ADAMTS9 cause nephronophthisis-related ciliopathy YJ Choi, J Halbritter, DA Braun, M Schueler, D Schapiro, JH Rim, ... The American Journal of Human Genetics 104 (1), 45-54, 2019 | 35 | 2019 |
Biallelic expression of mucin-1 in autosomal dominant tubulointerstitial kidney disease: implications for nongenetic disease recognition KX Knaup, T Hackenbeck, B Popp, J Stoeckert, A Wenzel, ... Journal of the American Society of Nephrology 29 (9), 2298-2309, 2018 | 33 | 2018 |
SDCCAG8 interacts with RAB effector proteins RABEP2 and ERC1 and is required for hedgehog signaling R Airik, M Schueler, M Airik, J Cho, KA Ulanowicz, JD Porath, TW Hurd, ... PLoS One 11 (5), e0156081, 2016 | 33 | 2016 |
A FANCD2/FANCI-associated nuclease 1-knockout model develops karyomegalic interstitial nephritis R Airik, M Schueler, M Airik, J Cho, JD Porath, E Mukherjee, ... Journal of the American Society of Nephrology 27 (12), 3552-3559, 2016 | 28 | 2016 |
Whole exome sequencing reveals a monogenic cause of disease in≈ 43% of 35 families with midaortic syndrome JK Warejko, M Schueler, A Vivante, W Tan, A Daga, JA Lawson, ... Hypertension 71 (4), 691-699, 2018 | 23 | 2018 |
Roscovitine blocks collecting duct cyst growth in Cep164-deficient kidneys R Airik, M Airik, M Schueler, CM Bates, F Hildebrandt Kidney international 96 (2), 320-326, 2019 | 13 | 2019 |