Prof. Dr. med., Dipl. Phys. Peter Krawitz
Prof. Dr. med., Dipl. Phys. Peter Krawitz
Institute for Genomic Statistics and Bioinformatics
Email verificata su uni-bonn.de - Home page
TitoloCitata daAnno
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions
DG Lupiáñez, K Kraft, V Heinrich, P Krawitz, F Brancati, E Klopocki, ...
Cell 161 (5), 1012-1025, 2015
9332015
Efficient CRISPR/Cas9 genome editing with low off-target effects in zebrafish
A Hruscha, P Krawitz, A Rechenberg, V Heinrich, J Hecht, C Haass, ...
Development 140 (24), 4982-4987, 2013
3572013
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
PM Krawitz, MR Schweiger, C Rödelsperger, C Marcelis, U Kölsch, ...
Nature genetics 42 (10), 827-829, 2010
3282010
Clinical diagnostics in human genetics with semantic similarity searches in ontologies
S Köhler, MH Schulz, P Krawitz, S Bauer, S Dölken, CE Ott, C Mundlos, ...
The American Journal of Human Genetics 85 (4), 457-464, 2009
3152009
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
2222014
Mutations in WNT1 cause different forms of bone fragility
K Keupp, F Beleggia, H Kayserili, AM Barnes, M Steiner, O Semler, ...
The American Journal of Human Genetics 92 (4), 565-574, 2013
1832013
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
T Zemojtel, S Köhler, L Mackenroth, M Jäger, J Hecht, P Krawitz, ...
Science translational medicine 6 (252), 252ra123-252ra123, 2014
1752014
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndromeHuman IL-21R deficiency
D Kotlarz, N Ziętara, G Uzel, T Weidemann, CJ Braun, J Diestelhorst, ...
The Journal of experimental medicine 210 (3), 433-443, 2013
1472013
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation
PM Krawitz, Y Murakami, J Hecht, U Krüger, SE Holder, GR Mortier, ...
The American Journal of Human Genetics 91 (1), 146-151, 2012
1242012
Strategies for exome and genome sequence data analysis in disease‐gene discovery projects
PN Robinson, P Krawitz, S Mundlos
Clinical genetics 80 (2), 127-132, 2011
1182011
Microindel detection in short-read sequence data
P Krawitz, C Rödelsperger, M Jäger, L Jostins, S Bauer, PN Robinson
Bioinformatics 26 (6), 722-729, 2010
1052010
PDE3A mutations cause autosomal dominant hypertension with brachydactyly
PG Maass, A Aydin, FC Luft, C Schaechterle, A Weise, S Stricker, ...
Nature genetics 47 (6), 647, 2015
1022015
Differential localization and identification of a critical aspartate suggest non-redundant proteolytic functions of the presenilin homologues SPPL2b and SPPL3
P Krawitz, C Haffner, R Fluhrer, H Steiner, B Schmid, C Haass
Journal of Biological Chemistry 280 (47), 39515-39523, 2005
1002005
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome
PM Krawitz, Y Murakami, A Rieß, M Hietala, U Krüger, N Zhu, T Kinoshita, ...
The American Journal of Human Genetics 92 (4), 584-589, 2013
922013
Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus
M Spielmann, F Brancati, PM Krawitz, PN Robinson, DM Ibrahim, ...
The American Journal of Human Genetics 91 (4), 629-635, 2012
872012
Basin entropy in Boolean network ensembles
P Krawitz, I Shmulevich
Physical review letters 98 (15), 158701, 2007
862007
Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome
Y Murakami, N Kanzawa, K Saito, PM Krawitz, S Mundlos, PN Robinson, ...
Journal of Biological Chemistry 287 (9), 6318-6325, 2012
762012
Identifying facial phenotypes of genetic disorders using deep learning
Y Gurovich, Y Hanani, O Bar, G Nadav, N Fleischer, D Gelbman, ...
Nature medicine 25 (1), 60-64, 2019
752019
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation
MF Howard, Y Murakami, AT Pagnamenta, C Daumer-Haas, B Fischer, ...
The American Journal of Human Genetics 94 (2), 278-287, 2014
752014
Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy
R Roncarati, CV Anselmi, P Krawitz, G Lattanzi, Y Von Kodolitsch, ...
European journal of human genetics 21 (10), 1105-1111, 2013
742013
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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