Dominik Seelow
机构: Professor of Bioinformatics and Translational Genetics, Berliner Institut für Gesundheitsforschung
主页: genecascade.org
每年引用次数
引用次数
引用: 13,822
H-指数: 29
I10-指数 : 46
出版物: 88
2015
2009
SIGLEC1 (CD169): a marker of active neuroinflammation in the brain but not in the blood of multiple sclerosis patients.
Robert Biesen , Werner Stenzel , Dominik Seelow , Friedemann Paul
Scientific Reports 11 ( 1) 10299 -10299
2021
Aviator: a web service for monitoring the availability of web services.
Dominik Seelow , Andreas Keller , Andreas Keller , Tobias Fehlmann
Nucleic Acids Research
4
2021
GeneDistiller--distilling candidate genes from linkage intervals.
Dominik Seelow , Jana Marie Schwarz , Markus Schuelke
PLOS ONE 3 ( 12)
102
2008
Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy.
Gudrun Schottmann , Dominik Seelow , Franziska Seifert , Susanne Morales-Gonzalez
Neurology Genetics 1 ( 4)
14
2015
RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity
Dagan Jenkins , Dominik Seelow , Fernanda S. Jehee , Chad A. Perlyn
American Journal of Human Genetics 80 ( 6) 1162 -1170
189
2007
Variant pathogenicity prediction
Dominik Seelow , Peter Robinson
Chapman and Hall/CRC 329 -345
2017
A systematic, large-scale comparison of transcription factor binding site models
Daniela Hombach , Jana Marie Schwarz , Peter N. Robinson , Markus Schuelke
BMC Genomics 17 ( 1) 388 -388
11
2016
A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations
Friedhelm Hildebrandt , Saskia F. Heeringa , Franz Rüschendorf , Massimo Attanasio
PLoS Genetics 5 ( 1) e1000353
136
2009
Pervasive and CpG-dependent promoter-like characteristics of transcribed enhancers.
Robin Steinhaus , Tonatiuh Gonzalez , Dominik Seelow , Peter N Robinson
Nucleic Acids Research 48 ( 10) 5306 -5317
3
2020
VarFish: comprehensive DNA variant analysis for diagnostics and research
Manuel Holtgrewe , Oliver Stolpe , Mikko Nieminen , Stefan Mundlos
Nucleic Acids Research 48
7
2020
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
Caroline S Sorli , Tom D Bunney , Matilda Katan , Jinhong Liu
Nature Genetics 38 ( 12) 1397 -1405
438
2006
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis
Massimo Attanasio , N Henriette Uhlenhaut , Vitor H Sousa , John F O'Toole
Nature Genetics 39 ( 8) 1018 -1024
169
2007
MutationTaster evaluates disease-causing potential of sequence alterations
Jana Marie Schwarz , Christian Rödelsperger , Markus Schuelke , Dominik Seelow
Nature Methods 7 ( 8) 575 -576
2,060
2010
Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype.
Melanie Grosch , Barbara Grüner , Stephanie Spranger , Adrian M. Stütz
Matrix Biology 32 ( 7) 387 -392
10
2013
Mutations in the Tight-Junction Gene Claudin 19 (CLDN19) Are Associated with Renal Magnesium Wasting, Renal Failure, and Severe Ocular Involvement
Martin Konrad , André Schaller , Dominik Seelow , Amit V. Pandey
American Journal of Human Genetics 79 ( 5) 949 -957
370
2006
Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity.
Gerald Stöber , Dominik Seelow , Franz Rüschendorf , Arif Ekici
Human Genetics 111 ( 4) 323 -330
53
2002
RegulationSpotter: Annotation and Interpretation of Extratranscriptic DNA Variants
Jana Marie Schwarz , Daniela Hombach , Sebastian Köhler , David N Cooper
Nucleic Acids Research 47
2
2019
MutationDistiller: user-driven identification of pathogenic DNA variants.
Daniela Hombach , Markus Schuelke , Ellen Knierim , Nadja Ehmke
Nucleic Acids Research 47
13
2019