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Markus Schuelke
Markus Schuelke
Professor of Neuropediatrics, Charité University Hospital, Berlin
Verified email at charite.de
Title
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Cited by
Year
An economic method for the fluorescent labeling of PCR fragments
M Schuelke
Nature biotechnology 18 (2), 233-234, 2000
40802000
MutationTaster2: mutation prediction for the deep-sequencing age
JM Schwarz, DN Cooper, M Schuelke, D Seelow
Nature methods 11 (4), 361-362, 2014
29442014
MutationTaster evaluates disease-causing potential of sequence alterations
JM Schwarz, C Rödelsperger, M Schuelke, D Seelow
Nature methods 7 (8), 575-576, 2010
27642010
Myostatin mutation associated with gross muscle hypertrophy in a child
M Schuelke, KR Wagner, LE Stolz, C Hübner, T Riebel, W Kömen, ...
New England Journal of Medicine 350 (26), 2682-2688, 2004
16972004
Lack of myostatin results in excessive muscle growth but impaired force generation
H Amthor, R Macharia, R Navarrete, M Schuelke, SC Brown, A Otto, T Voit, ...
Proceedings of the National Academy of Sciences 104 (6), 1835-1840, 2007
4432007
Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations
LC López, M Schuelke, CM Quinzii, T Kanki, RJT Rodenburg, A Naini, ...
The American Journal of Human Genetics 79 (6), 1125-1129, 2006
4242006
HomozygosityMapper—an interactive approach to homozygosity mapping
D Seelow, M Schuelke, F Hildebrandt, P Nürnberg
Nucleic acids research 37 (suppl_2), W593-W599, 2009
3872009
Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
K Grohmann, M Schuelke, A Diers, K Hoffmann, B Lucke, C Adams, ...
Nature genetics 29 (1), 75-77, 2001
3672001
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome
J Loeffen, J Smeitink, R Triepels, R Smeets, M Schuelke, R Sengers, ...
The American Journal of Human Genetics 63 (6), 1598-1608, 1998
3331998
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
M Schuelke, J Smeitink, E Mariman, J Loeffen, B Plecko, F Trijbels, ...
Nature genetics 21 (3), 260-261, 1999
3041999
Mutations in the gene encoding gap junction protein α12 (connexin 46.6) cause Pelizaeus-Merzbacher–like disease
B Uhlenberg, M Schuelke, F Rüschendorf, N Ruf, AM Kaindl, M Henneke, ...
The American Journal of Human Genetics 75 (2), 251-260, 2004
2852004
Variants in CPA1 are strongly associated with early onset chronic pancreatitis
H Witt, S Beer, J Rosendahl, JM Chen, GR Chandak, A Masamune, ...
Nature genetics 45 (10), 1216-1220, 2013
2732013
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations
A Rajab, V Straub, LJ McCann, D Seelow, R Varon, R Barresi, A Schulze, ...
PLoS genetics 6 (3), e1000874, 2010
2432010
Mutations in PYCR1 cause cutis laxa with progeroid features
B Reversade, N Escande-Beillard, A Dimopoulou, B Fischer, SC Chng, ...
Nature genetics 41 (9), 1016-1021, 2009
2352009
The spectrum of WRN mutations in Werner syndrome patients
S Huang, L Lee, NB Hanson, C Lenaerts, H Hoehn, M Poot, CD Rubin, ...
Human mutation 27 (6), 558-567, 2006
2302006
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
TB Haack, B Haberberger, EM Frisch, T Wieland, A Iuso, M Gorza, ...
Journal of medical genetics 49 (4), 277-283, 2012
1972012
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 (NF1)
A Klose, M Reza Ahmadian, M Schuelke, K Scheffzek, S Hoffmeyer, ...
Human molecular genetics 7 (8), 1261-1268, 1998
1871998
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation
MB Hartig, K Hörtnagel, B Garavaglia, G Zorzi, T Kmiec, T Klopstock, ...
Annals of Neurology: Official Journal of the American Neurological …, 2006
1852006
Identification of small non-coding RNAs from mitochondria and chloroplasts
B Lung, A Zemann, MJ Madej, M Schuelke, S Techritz, S Ruf, R Bock, ...
Nucleic acids research 34 (14), 3842-3852, 2006
1622006
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)
K Grohmann, R Varon, P Stolz, M Schuelke, C Janetzki, E Bertini, ...
Annals of Neurology: Official Journal of the American Neurological …, 2003
1622003
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