Publications of S. Mundlos
All genres
Journal Article (250)
41.
Journal Article
29 (1), pp. 243 - 246 (2018)
A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. Osteoporosis International 42.
Journal Article
101 (5), pp. 833 - 843 (2017)
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. The American Journal of Human Genetics 43.
Journal Article
49 (10), pp. 1539 - 1545 (2017)
Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog). Nature Genetics 44.
Journal Article
27 (2), pp. 223 - 233 (2017)
Characterization of hundreds of regulatory landscapes in developing limbs reveals two regimes of chromatin folding. Genome Research 45.
Journal Article
13 (1), e1006567 (2017)
Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF. PLoS Genetics 46.
Journal Article
538 (7624), pp. 265 - 269 (2016)
Formation of novel chromatin domains determines pathogenicity of genomic duplications. Nature 47.
Journal Article
25 (R2), pp. R157 - R165 (2016)
Looking beyond the genes: the role of non-coding variants in human disease. Human Molecular Genetics 48.
Journal Article
25 (17), pp. 3836 - 3848 (2016)
The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface. Human Molecular Genetics 49.
Journal Article
2016, btw550 (2016)
A likelihood ratio based method to predict exact pedigrees for complex families from next-generation sequencing data. Bioinformatics 50.
Journal Article
24 (8), pp. 1132 - 1136 (2016)
Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia. European journal of human genetics 51.
Journal Article
37 (8), pp. 737 - 744 (2016)
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. Human Mutations 52.
Journal Article
170A (5), pp. 1202 - 1207 (2016)
Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement. American Journal of Medical Genetics Part A 53.
Journal Article
32 (4), pp. 225 - 237 (2016)
Breaking TADs: How Alterations of Chromatin Domains Result in Disease. Trends in Genetics 54.
Journal Article
170A (4), pp. 1080 - 1085 (2016)
An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing. American Journal of Medical Genetics Part A 55.
Journal Article
170 (3), pp. 615 - 621 (2016)
A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation. American Journal of Medical Genetics Part A 56.
Journal Article
67 (1), pp. 78 - 83 (2016)
Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach. Polish Journal of Pathology 57.
Journal Article
26 (2), pp. 183 - 191 (2016)
Exome Sequencing and CRISPR/Cas Genome Editing Identify Mutations of ZAK as a Cause of Limb Defects in Humans and Mice. Genome Research 58.
Journal Article
135 (10), pp. 2368 - 2376 (2015)
GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting. The Journal of Investigative Dermatology: an International Journal for Research in Cutaneous Biology 59.
Journal Article
97 (3), pp. 483 - 492 (2015)
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. The American Journal of Human Genetics 60.
Journal Article
58 (8), pp. 376 - 380 (2015)
FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies. European Journal of Medical Genetics