| SAMHD1 restricts HIV-1 infection in resting CD4+ T cells HM Baldauf, X Pan, E Erikson, S Schmidt, W Daddacha, M Burggraf, ... Nature medicine 18 (11), 1682-1688, 2012 | 681 | 2012 |
| Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification F Rutsch, N Ruf, S Vaingankar, MR Toliat, A Suk, W Höhne, G Schauer, ... Nature genetics 34 (4), 379-381, 2003 | 654 | 2003 |
| Calcification of articular cartilage in human osteoarthritis M Fuerst, J Bertrand, L Lammers, R Dreier, F Echtermeyer, Y Nitschke, ... Arthritis & Rheumatism 60 (9), 2694-2703, 2009 | 374 | 2009 |
| PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification F Rutsch, S Vaingankar, K Johnson, I Goldfine, B Maddux, P Schauerte, ... The American journal of pathology 158 (2), 543-554, 2001 | 333 | 2001 |
| Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6 Y Nitschke, G Baujat, U Botschen, T Wittkampf, M du Moulin, J Stella, ... The American Journal of Human Genetics 90 (1), 25-39, 2012 | 319 | 2012 |
| SLC39A8 deficiency: a disorder of manganese transport and glycosylation JH Park, M Hogrebe, M Grüneberg, I DuChesne, AL von der Heiden, ... The American Journal of Human Genetics 97 (6), 894-903, 2015 | 289 | 2015 |
| SAMHD1-deficient CD14+ cells from individuals with Aicardi-Goutieres syndrome are highly susceptible to HIV-1 infection A Berger, AFR Sommer, J Zwarg, M Hamdorf, K Welzel, N Esly, S Panitz, ... PLoS pathogens 7 (12), e1002425, 2011 | 288 | 2011 |
| Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism D Coelho, JC Kim, IR Miousse, S Fung, M du Moulin, I Buers, T Suormala, ... Nature genetics 44 (10), 1152-1155, 2012 | 261 | 2012 |
| Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism F Rutsch, S Gailus, IR Miousse, T Suormala, C Sagné, MR Toliat, ... Nature genetics 41 (2), 234-239, 2009 | 231 | 2009 |
| Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy F Rutsch, P Böyer, Y Nitschke, N Ruf, B Lorenz-Depierieux, T Wittkampf, ... Circulation: Cardiovascular Genetics 1 (2), 133-140, 2008 | 222 | 2008 |
| A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome F Rutsch, M MacDougall, C Lu, I Buers, O Mamaeva, Y Nitschke, GI Rice, ... The American Journal of Human Genetics 96 (2), 275-282, 2015 | 216 | 2015 |
| Congenital glutamine deficiency with glutamine synthetase mutations J Häberle, B Görg, F Rutsch, E Schmidt, A Toutain, JF Benoist, A Gelot, ... New England Journal of Medicine 353 (18), 1926-1933, 2005 | 214 | 2005 |
| Genetics in arterial calcification: pieces of a puzzle and cogs in a wheel F Rutsch, Y Nitschke, R Terkeltaub Circulation research 109 (5), 578-592, 2011 | 205 | 2011 |
| The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI) N Ruf, B Uhlenberg, R Terkeltaub, P Nürnberg, F Rutsch Human mutation 25 (1), 98-98, 2005 | 134 | 2005 |
| Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial R Savarirayan, L Tofts, M Irving, W Wilcox, CA Bacino, J Hoover-Fong, ... The Lancet 396 (10252), 684-692, 2020 | 118 | 2020 |
| Endogenous calcification inhibitors in the prevention of vascular calcification: a consensus statement from the COST action EuroSoftCalcNet M Bäck, T Aranyi, ML Cancela, M Carracedo, N Conceição, G Leftheriotis, ... Frontiers in cardiovascular medicine 5, 196, 2019 | 115 | 2019 |
| Generalized arterial calcification of infancy: treatment with bisphosphonates KA Ramjan, T Roscioli, F Rutsch, D Sillence, CFJ Munns Nature Reviews Endocrinology 5 (3), 167-172, 2009 | 96 | 2009 |
| Cross-sectional observational study of 208 patients with non-classical urea cycle disorders CM Rüegger, M Lindner, D Ballhausen, MR Baumgartner, S Beblo, A Das, ... Journal of inherited metabolic disease 37, 21-30, 2014 | 94 | 2014 |
| New insights into NPP1 function: lessons from clinical and animal studies NCW Mackenzie, C Huesa, F Rutsch, VE MacRae Bone 51 (5), 961-968, 2012 | 94 | 2012 |
| 47 patients with FLNA associated periventricular nodular heterotopia M Lange, B Kasper, A Bohring, F Rutsch, G Kluger, S Hoffjan, S Spranger, ... Orphanet journal of rare diseases 10, 1-11, 2015 | 92 | 2015 |
Robert Terkeltaub在 ucsd.edu 的电子邮件经过验证
