Publications of S. Mundlos
All genres
Journal Article (266)
101.
Journal Article
94 (2), pp. 278 - 287 (2014)
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation. The American Journal of Human Genetics 102.
Journal Article
9 (1), e86115 (2014)
Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1. PLoS One 103.
Journal Article
23 (12), pp. 2091 - 2102 (2013)
Distinct global shifts in genomic binding profiles of limb malformation associated HOXD13 mutations. Genome Research 104.
Journal Article
21 (4), pp. 367 - 372 (2013)
Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 105.
Journal Article
50 (1), pp. 47 - 53 (2013)
Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A. Journal of Medical Genetics 106.
Journal Article
2012, p. e - e (2012)
Identification of a Novel Missense Mutation in EDAR Causing Autosomal Recessive Hypohidrotic Ectodermal Dysplasia with Bilateral Amastia and Palmoplantar Hyperkeratosis. British Journal of Dermatology 107.
Journal Article
2012, p. e - e (2012)
Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 108.
Journal Article
131 (11), pp. 1761 - 1773 (2012)
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Human Genetics 109.
Journal Article
51 (4), pp. 651 - 660 (2012)
Deterioration of fracture healing in the mouse model of NF1 long bone dysplasia. Bone 110.
Journal Article
91 (4), pp. 629 - 635 (2012)
Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. American Journal of Human Genetics 111.
Journal Article
91 (1), pp. 146 - 151 (2012)
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. American Journal of Human Genetics 112.
Journal Article
49 (7), pp. 437 - 441 (2012)
Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia. Journal of Medical Genetics (London) 113.
Journal Article
20 (7), pp. 754 - 761 (2012)
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 114.
Journal Article
20 (6), pp. 705 - 708 (2012)
Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 115.
Journal Article
40 (6), pp. 2426 - 2431 (2012)
The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process. Nucleic Acids Research (London) 116.
Journal Article
287 (9), pp. 6318 - 6325 (2012)
Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. The Journal of Biological Chemistry 117.
Journal Article
49 (2), pp. 119 - 125 (2012)
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. Journal of Medical Genetics (London) 118.
Journal Article
49 (2), pp. 119 - 125 (2012)
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J Med Genet 119.
Journal Article
21 (4), pp. 623 - 633 (2012)
Odd-skipped related genes regulate differentiation of embryonic limb mesenchyme and bone marrow mesenchymal stromal cells. Stem Cells and Development 120.
Journal Article
88 (1), pp. 70 - 75 (2011)
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. American Journal of Human Genetics