Articles with public access mandates - Stefan MundlosLearn more
Not available anywhere: 11
Review
A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome
E Klopocki, CE Ott, N Benatar, R Ullmann, S Mundlos, K Lehmann
Journal of medical genetics 45 (6), 370-375, 2008
Mandates: German Research Foundation
Review
The role of 3D chromatin domains in gene regulation: a multi-facetted view on genome organization
DM Ibrahim, S Mundlos
Current opinion in genetics & development 61, 1-8, 2020
Mandates: German Research Foundation
Review
Three-dimensional chromatin in disease: what holds us together and what drives us apart?
DM Ibrahim, S Mundlos
Current Opinion in Cell Biology 64, 1-9, 2020
Mandates: German Research Foundation
Review
Biaxial cell stimulation: A mechanical validation
FH Bieler, CE Ott, MS Thompson, R Seidel, S Ahrens, DR Epari, ...
Journal of biomechanics 42 (11), 1692-1696, 2009
Mandates: German Research Foundation
Review
Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4
E Steichen‐Gersdorf, I Gassner, A Superti‐Furga, R Ullmann, S Stricker, ...
Clinical genetics 74 (6), 560-565, 2008
Mandates: German Research Foundation
Review
Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1
CE Ott, B Fischer, P Schröter, R Richter, N Gupta, N Verma, M Kabra, ...
Bone 55 (2), 292-297, 2013
Mandates: German Research Foundation
Review
A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al‐Awadi/Raas‐Rothschild/Schinzel phocomelia syndrome
PN Kantaputra, S Mundlos, W Sripathomsawat
American Journal of Medical Genetics Part A 152 (11), 2832-2837, 2010
Mandates: German Research Foundation
Review
Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia
S Douzgou, K Lehmann, R Mingarelli, S Mundlos, B Dallapiccola
American Journal of Medical Genetics Part A 146 (16), 2116-2121, 2008
Mandates: German Research Foundation
Review
H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome
BK Kragesteen, F Brancati, MC Digilio, S Mundlos, M Spielmann
Journal of Medical Genetics 56 (4), 246-251, 2019
Mandates: German Research Foundation
Review
Long bone maturation is driven by pore closing: A quantitative tomography investigation of structural formation in young C57BL/6 mice
EL Bortel, GN Duda, S Mundlos, BM Willie, P Fratzl, P Zaslansky
Acta biomaterialia 22, 92-102, 2015
Mandates: German Research Foundation
Review
A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies
LFG Álvarez, J Tenorio‐Castaño, FA Poletta, F Santos‐Simarro, P Arias, ...
American Journal of Medical Genetics Part A 191 (1), 100-107, 2023
Mandates: Government of Spain
Available somewhere: 206
Review
The single-cell transcriptional landscape of mammalian organogenesis
J Cao, M Spielmann, X Qiu, X Huang, DM Ibrahim, AJ Hill, F Zhang, ...
Nature 566 (7745), 496-502, 2019
Mandates: US National Institutes of Health, Howard Hughes Medical Institute, German …
Review
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
Mandates: US Department of Energy, Swiss National Science Foundation, US National …
Review
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
Mandates: German Research Foundation
Review
Nosology and classification of genetic skeletal disorders: 2010 revision
ML Warman, V Cormier‐Daire, C Hall, D Krakow, R Lachman, M LeMerrer, ...
American journal of medical genetics Part A 155 (5), 943-968, 2011
Mandates: Howard Hughes Medical Institute
Review
Formation of new chromatin domains determines pathogenicity of genomic duplications
M Franke, DM Ibrahim, G Andrey, W Schwarzer, V Heinrich, R Schöpflin, ...
Nature 538 (7624), 265-269, 2016
Mandates: German Research Foundation
Review
A high-resolution anatomical atlas of the transcriptome in the mouse embryo
G Diez-Roux, S Banfi, M Sultan, L Geffers, S Anand, D Rozado, A Magen, ...
PLoS biology 9 (1), e1000582, 2011
Mandates: Fondazione Telethon, Italy
Review
Structural variation in the 3D genome
M Spielmann, DG Lupiáñez, S Mundlos
Nature Reviews Genetics 19 (7), 453-467, 2018
Mandates: German Research Foundation
Review
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
Mandates: US Department of Energy, US National Institutes of Health, German Research …
Review
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
Mandates: German Research Foundation
Publication and funding information is determined automatically by a computer program