Sledovat
Dominik Seelow
Dominik Seelow
Professor of Bioinformatics and Translational Genetics, Berliner Institut für Gesundheitsforschung
E-mailová adresa ověřena na: bih-charite.de - Domovská stránka
Název
Citace
Citace
Rok
MutationTaster2: mutation prediction for the deep-sequencing age
JM Schwarz, DN Cooper, M Schuelke, D Seelow
Nature methods 11 (4), 361-362, 2014
35932014
MutationTaster evaluates disease-causing potential of sequence alterations
JM Schwarz, C Rödelsperger, M Schuelke, D Seelow
Nature methods 7 (8), 575-576, 2010
31952010
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease
PN Robinson, S Köhler, S Bauer, D Seelow, D Horn, S Mundlos
The American Journal of Human Genetics 83 (5), 610-615, 2008
10322008
The human phenotype ontology in 2017
S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ...
Nucleic acids research 45 (D1), D865-D876, 2017
8152017
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible
B Hinkes, RC Wiggins, R Gbadegesin, CN Vlangos, D Seelow, ...
Nature genetics 38 (12), 1397-1405, 2006
6612006
Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement
M Konrad, A Schaller, D Seelow, AV Pandey, S Waldegger, A Lesslauer, ...
The American Journal of Human Genetics 79 (5), 949-957, 2006
5672006
HomozygosityMapper—an interactive approach to homozygosity mapping
D Seelow, M Schuelke, F Hildebrandt, P Nürnberg
Nucleic acids research 37 (suppl_2), W593-W599, 2009
4292009
Improved exome prioritization of disease genes through cross-species phenotype comparison
PN Robinson, S Köhler, A Oellrich, K Wang, CJ Mungall, SE Lewis, ...
Genome research 24 (2), 340-348, 2014
3732014
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
D Jenkins, D Seelow, FS Jehee, CA Perlyn, LG Alonso, DF Bueno, ...
The American Journal of Human Genetics 80 (6), 1162-1170, 2007
2942007
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis
M Attanasio, NH Uhlenhaut, VH Sousa, JF O'Toole, E Otto, K Anlag, ...
Nature genetics 39 (8), 1018-1024, 2007
2672007
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
2642010
Systematic comparison of three methods for fragmentation of long-range PCR products for next generation sequencing
E Knierim, B Lucke, JM Schwarz, M Schuelke, D Seelow
PloS one 6 (11), e28240, 2011
1952011
A systematic approach to mapping recessive disease genes in individuals from outbred populations
F Hildebrandt, SF Heeringa, F Rüschendorf, M Attanasio, G Nürnberg, ...
PLoS genetics 5 (1), e1000353, 2009
1912009
MutationTaster2021
R Steinhaus, S Proft, M Schuelke, DN Cooper, JM Schwarz, D Seelow
Nucleic Acids Research 49 (W1), W446-W451, 2021
1672021
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy
JF O’Toole, Y Liu, EE Davis, CJ Westlake, M Attanasio, EA Otto, D Seelow, ...
The Journal of clinical investigation 120 (3), 791-802, 2010
1532010
Genome-wide array analysis of normal and malformed human hearts
B Kaynak, A von Heydebreck, S Mebus, D Seelow, S Hennig, J Vogel, ...
Circulation 107 (19), 2467-2474, 2003
1492003
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders
A Michalk, S Stricker, J Becker, R Rupps, T Pantzar, J Miertus, G Botta, ...
The American Journal of Human Genetics 82 (2), 464-476, 2008
1472008
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects
S Baasanjav, L Al-Gazali, T Hashiguchi, S Mizumoto, B Fischer, D Horn, ...
The American Journal of Human Genetics 89 (1), 15-27, 2011
1362011
GeneDistiller—distilling candidate genes from linkage intervals
D Seelow, JM Schwarz, M Schuelke
PloS one 3 (12), e3874, 2008
1352008
Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia
C Bergmann, J Senderek, D Anhuf, CT Thiel, AB Ekici, ...
The American Journal of Human Genetics 79 (6), 1105-1109, 2006
1212006
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Články 1–20