Role of duplicate genes in genetic robustness against null mutations Z Gu, LM Steinmetz, X Gu, C Scharfe, RW Davis, WH Li Nature 421 (6918), 63-66, 2003 | 1028 | 2003 |
Evolutionary rate in the protein interaction network HB Fraser, AE Hirsh, LM Steinmetz, C Scharfe, MW Feldman Science 296 (5568), 750-752, 2002 | 1020 | 2002 |
Systematic screen for human disease genes in yeast LM Steinmetz, C Scharfe, AM Deutschbauer, D Mokranjac, ZS Herman, ... Nature genetics 31 (4), 400-404, 2002 | 663 | 2002 |
The role of selection in the evolution of human mitochondrial genomes T Kivisild, P Shen, DP Wall, B Do, R Sung, K Davis, G Passarino, ... Genetics 172 (1), 373-387, 2006 | 593 | 2006 |
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness (DIDMOAD) Caused by Mutations in a Novel Gene (Wolframin) Coding for a Predicted … TM Strom, K Hörtnagel, S Hofmann, F Gekeler, C Scharfe, W Rabl, ... Human molecular genetics 7 (13), 2021-2028, 1998 | 574 | 1998 |
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein CM Pusch, C Zeitz, O Brandau, K Pesch, H Achatz, S Feil, C Scharfe, ... Nature genetics 26 (3), 324-327, 2000 | 309 | 2000 |
Integrative analysis of the mitochondrial proteome in yeast H Prokisch, C Scharfe, DG Camp, W Xiao, L David, C Andreoli, ... PLoS Biology 2 (6), e160, 2004 | 250 | 2004 |
MitoP2: the mitochondrial proteome database—now including mouse data H Prokisch, C Andreoli, U Ahting, K Heiss, A Ruepp, C Scharfe, ... Nucleic acids research 34 (suppl_1), D705-D711, 2006 | 119 | 2006 |
Mapping gene associations in human mitochondria using clinical disease phenotypes C Scharfe, HHS Lu, JK Neuenburg, EA Allen, GC Li, T Klopstock, ... PLoS computational biology 5 (4), e1000374, 2009 | 110 | 2009 |
MitoP2, an integrated database on mitochondrial proteins in yeast and man C Andreoli, H Prokisch, K Hörtnagel, JC Mueller, M Münsterkötter, ... Nucleic acids research 32 (suppl_1), D459-D462, 2004 | 105 | 2004 |
Proteome analysis of mitochondrial outer membrane from Neurospora crassa S Schmitt, H Prokisch, T Schlunck, DG Camp, U Ahting, T Waizenegger, ... Proteomics 6 (1), 72-80, 2006 | 98 | 2006 |
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I C Scharfe, M Hauschild, T Klopstock, AJM Janssen, PH Heidemann, ... Journal of medical genetics 37 (9), 669-673, 2000 | 96 | 2000 |
MITOP, the mitochondrial proteome database: 2000 update C Scharfe, P Zaccaria, K Hoertnagel, M Jaksch, T Klopstock, ... Nucleic Acids Research 28 (1), 155-158, 2000 | 94 | 2000 |
Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data … MJ Falk, L Shen, M Gonzalez, J Leipzig, MT Lott, APM Stassen, ... Molecular genetics and metabolism 114 (3), 388-396, 2015 | 91 | 2015 |
Massively parallel discovery of human-specific substitutions that alter enhancer activity S Uebbing, J Gockley, SK Reilly, AA Kocher, E Geller, N Gandotra, ... Proceedings of the National Academy of Sciences 118 (2), e2007049118, 2021 | 76 | 2021 |
High-quality DNA sequence capture of 524 disease candidate genes P Shen, W Wang, S Krishnakumar, C Palm, AK Chi, GM Enns, RW Davis, ... Proceedings of the National Academy of Sciences 108 (16), 6549-6554, 2011 | 68 | 2011 |
Rare variant detection using family-based sequencing analysis G Peng, Y Fan, TB Palculict, P Shen, EC Ruteshouser, AK Chi, RW Davis, ... Proceedings of the National Academy of Sciences 110 (10), 3985-3990, 2013 | 67 | 2013 |
Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene R Horvath, C Scharfe, M Hoeltzenbein, BH Do, C Schröder, R Warzok, ... Journal of medical genetics 39 (11), 812-816, 2002 | 51 | 2002 |
Reducing false-positive results in newborn screening using machine learning G Peng, Y Tang, TM Cowan, GM Enns, H Zhao, C Scharfe International journal of neonatal screening 6 (1), 16, 2020 | 45 | 2020 |
Acylcarnitine profiles reflect metabolic vulnerability for necrotizing enterocolitis in newborns born premature KG Sylvester, ZJ Kastenberg, RL Moss, GM Enns, TM Cowan, GM Shaw, ... The Journal of pediatrics 181, 80-85. e1, 2017 | 44 | 2017 |