List of works - Stefan Mundlos

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

scientific article

The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway

scientific article (publication date: July 2003)

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

scientific article

A high-resolution anatomical atlas of the transcriptome in the mouse embryo

scientific article

Nosology and classification of genetic skeletal disorders: 2010 revision

scientific article

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

scientific article

Formation of new chromatin domains determines pathogenicity of genomic duplications

scientific article

Nosology and classification of genetic skeletal disorders: 2015 revision

scientific article published on 23 September 2015

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

scientific article

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

scientific article

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

scientific article

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

scientific article

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

scientific article

Mutations in PYCR1 cause cutis laxa with progeroid features

scientific article

Breaking TADs: How Alterations of Chromatin Domains Result in Disease

scientific article

Plant nitric oxide synthase: a never-ending story?

article

Mutations in the RUNX2 gene in patients with cleidocranial dysplasia

scientific article (publication date: March 2002)

Role of Runx genes in chondrocyte differentiation

scientific article

A restricted spectrum of NRAS mutations causes Noonan syndrome

scientific article

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

scientific article

The single-cell transcriptional landscape of mammalian organogenesis

scientific article published on 20 February 2019

Mutations in WNT1 cause different forms of bone fragility

scientific article

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations

scientific article

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

scientific article

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

scientific article

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

scientific article published on 20 October 2006

The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization

scientific article published on 12 October 2009

Comprehensive expression analysis of all Wnt genes and their major secreted antagonists during mouse limb development and cartilage differentiation

scientific article published on 13 January 2009

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2

scientific article

Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

scientific article published on 25 February 2013

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation

scientific article

Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice

scientific article published on 4 February 2015

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

scholarly article

Structural variation in the 3D genome

scientific article published on 24 April 2018

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

scientific article

Mesenchymal stromal cells of myelodysplastic syndrome and acute myeloid leukemia patients have distinct genetic abnormalities compared with leukemic blasts

scientific article published on 23 September 2011

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

scientific article published on 26 March 2009

The other trinucleotide repeat: polyalanine expansion disorders

scientific article

CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait

scientific article

Deletion and point mutations of PTHLH cause brachydactyly type E.

scientific article

Genetic disorders of the skeleton: a developmental approach

scientific article

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions

scientific article published on 11 June 2015

MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites

scientific article

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

scientific article published on 25 March 2009

The organization of the osteocyte network mirrors the extracellular matrix orientation in bone

scientific article

Deletions of chromosomal regulatory boundaries are associated with congenital disease

scientific article

Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia

scientific article published in August 2009

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome

scientific article published on April 2013

Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome

scientific journal article

Redundant function of the heparan sulfate 6-O-endosulfatases Sulf1 and Sulf2 during skeletal development

scientific journal article

List of works by Stefan Mundlos

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions

The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

A high-resolution anatomical atlas of the transcriptome in the mouse embryo

Nosology and classification of genetic skeletal disorders: 2010 revision

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

Formation of new chromatin domains determines pathogenicity of genomic duplications

Nosology and classification of genetic skeletal disorders: 2015 revision

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

Mutations in PYCR1 cause cutis laxa with progeroid features

Breaking TADs: How Alterations of Chromatin Domains Result in Disease

Plant nitric oxide synthase: a never-ending story?

Mutations in the RUNX2 gene in patients with cleidocranial dysplasia

Role of Runx genes in chondrocyte differentiation

A restricted spectrum of NRAS mutations causes Noonan syndrome

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

The single-cell transcriptional landscape of mammalian organogenesis

Mutations in WNT1 cause different forms of bone fragility

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization

Comprehensive expression analysis of all Wnt genes and their major secreted antagonists during mouse limb development and cartilage differentiation

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2

Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation

Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

Structural variation in the 3D genome

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

Mesenchymal stromal cells of myelodysplastic syndrome and acute myeloid leukemia patients have distinct genetic abnormalities compared with leukemic blasts

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

The other trinucleotide repeat: polyalanine expansion disorders

CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait

Deletion and point mutations of PTHLH cause brachydactyly type E.

Genetic disorders of the skeleton: a developmental approach

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions

MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

The organization of the osteocyte network mirrors the extracellular matrix orientation in bone

Deletions of chromosomal regulatory boundaries are associated with congenital disease

Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome

Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome

Redundant function of the heparan sulfate 6-O-endosulfatases Sulf1 and Sulf2 during skeletal development