1. Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.

    Nature Genetics 48(8):970 (2016) PMID 27463398

  2. Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.

    Journal of Medical Genetics 53(6):427 (2016) PMID 26671912 PMCID PMC4898782

  3. The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.

    Nature Genetics 48(6):648 (2016) PMID 27158779 PMCID PMC4978421

    Cilia use microtubule-based intraflagellar transport (IFT) to organize intercellular signaling. Ciliopathies are a spectrum of human diseases resulting from defects in cilia structure or function. The mechanisms regulating the assembly of ciliary multiprotein complexes and the transport of these...
  4. TGFβ and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions.

    PLoS Genetics 12(3):e1005936 (2016) PMID 27019229 PMCID PMC4809497

    Spondylocarpotarsal synostosis (SCT) is an autosomal recessive disorder characterized by progressive vertebral fusions and caused by loss of function mutations in Filamin B (FLNB). FLNB acts as a signaling scaffold by linking the actin cytoskleteon to signal transduction systems, yet the disease...
  5. A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).

    American Journal of Medical Genetics Part A 167A(10):2470 (2015) PMID 25997753

  6. HSP47 and FKBP65 cooperate in the synthesis of type I procollagen.

    Human Molecular Genetics 24(7):1918 (2015) PMID 25510505 PMCID PMC4355024

    Osteogenesis imperfecta (OI) is a genetic disorder that results in low bone mineral density and brittle bones. Most cases result from dominant mutations in the type I procollagen genes, but mutations in a growing number of genes have been identified that produce autosomal recessive forms of the ...
  7. Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.

    Nature Communications 6:7092 (2015) PMID 26077881 PMCID PMC4470332

    The short rib polydactyly syndromes (SRPSs) are a heterogeneous group of autosomal recessive, perinatal lethal skeletal disorders characterized primarily by short, horizontal ribs, short limbs and polydactyly. Mutations in several genes affecting intraflagellar transport (IFT) cause SRPS but the...
  8. Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.

    American Journal of Medical Genetics Part A 164A(9):2407 (2014) PMID 24953221 PMCID PMC4134718

  9. Mice expressing mutant Trpv4 recapitulate the human TRPV4 disorders.

    Journal of Bone and Mineral Research 29(8):1815 (2014) PMID 24644033 PMCID PMC4108531

    Activating mutations in transient receptor potential vanilloid family member 4 (Trpv4) are known to cause a spectrum of skeletal dysplasias ranging from autosomal dominant brachyolmia to lethal metatropic dysplasia. To develop an animal model of these disorders, we created transgenic mice expres...
  10. Patient-derived skeletal dysplasia induced pluripotent stem cells display abnormal chondrogenic marker expression and regulation by BMP2 and TGFβ1.

    Stem Cells and Development 23(13):1464 (2014) PMID 24559391 PMCID PMC4066255

    Skeletal dysplasias (SDs) are caused by abnormal chondrogenesis during cartilage growth plate differentiation. To study early stages of aberrant cartilage formation in vitro, we generated the first induced pluripotent stem cells (iPSCs) from fibroblasts of an SD patient with a lethal form of met...
  11. Follistatin in chondrocytes: the link between TRPV4 channelopathies and skeletal malformations.

    FASEB Journal 28(6):2525 (2014) PMID 24577120 PMCID PMC4021446

    Point mutations in the calcium-permeable TRPV4 ion channel have been identified as the cause of autosomal-dominant human motor neuropathies, arthropathies, and skeletal malformations of varying severity. The objective of this study was to determine the mechanism by which TRPV4 channelopathy muta...
  12. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.

    New England Journal of Medicine 368(19):1809 (2013) PMID 23656646 PMCID PMC3709450

    This report identifies human skeletal diseases associated with mutations in WNT1. In 10 family members with dominantly inherited, early-onset osteoporosis, we identified a heterozygous missense mutation in WNT1, c.652T→G (p.Cys218Gly). In a separate family with 2 siblings affected by recessive o...
  13. Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.

    The American Journal of Human Genetics 92(1):137 (2013) PMID 23273567 PMCID PMC3542462

    Opsismodysplasia is a rare, autosomal-recessive skeletal dysplasia characterized by short stature, characteristic facial features, and in some cases severe renal phosphate wasting. We used linkage analysis and whole-genome sequencing of a consanguineous trio to discover that mutations in inosito...
  14. David L. Rimoin.

    The American Journal of Human Genetics 91(3):403 (2012) PMID 23240132 PMCID PMC3511997

  15. Exome sequencing identifies PDE4D mutations in acrodysostosis.

    The American Journal of Human Genetics 90(4):746 (2012) PMID 22464252 PMCID PMC3322224

    Acrodysostosis is a dominantly-inherited, multisystem disorder characterized by skeletal, endocrine, and neurological abnormalities. To identify the molecular basis of acrodysostosis, we performed exome sequencing on five genetically independent cases. Three different missense mutations in PDE4D...
  16. Peptidyl 3-hydroxyproline binding properties of type I collagen suggest a function in fibril supramolecular assembly.

    Biochemistry (Washington) 51(12):2417 (2012) PMID 22380708 PMCID PMC3314591

    Proline residues in collagens are extensively hydroxylated post-translationally. A rare form of this modification, (3S,2S)-l-hydroxyproline (3Hyp), remains without a clear function. Disruption of the enzyme complex responsible for prolyl 3-hydroxylation results in severe forms of recessive osteo...
  17. Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.

    American Journal of Medical Genetics Part A 158A(2):309 (2012) PMID 22246659 PMCID PMC3264686

    Fibrochondrogenesis is a severe, recessively inherited skeletal dysplasia shown to result from mutations in the gene encoding the proα1(XI) chain of type XI collagen, COL11A1. The first of two cases reported here was the affected offspring of first cousins and sequence analysis excluded mutation...
  18. The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family).

    Pediatric Radiology 42(1):15 (2012) PMID 21863289

    The spondylo and spondylometaphyseal dysplasias (SMDs) are characterized by vertebral changes and metaphyseal abnormalities of the tubular bones, which produce a phenotypic spectrum of disorders from the mild autosomal-dominant brachyolmia to SMD Kozlowski to autosomal-dominant metatropic dyspla...
  19. Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.

    The American Journal of Human Genetics 89(6):767 (2011) PMID 22152678 PMCID PMC3234368

    Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (lepto-SEMDJL, aka SEMDJL, Hall type), is an autosomal dominant skeletal disorder that, in spite of being relatively common among skeletal dysplasias, has eluded molecular elucidation so far. We used whole-exome sequencing of...
  20. Mutations in SERPINF1 cause osteogenesis imperfecta type VI.

    Journal of Bone and Mineral Research 26(12):2798 (2011) PMID 21826736 PMCID PMC3214246

    Osteogenesis imperfecta (OI) is a spectrum of genetic disorders characterized by bone fragility. It is caused by dominant mutations affecting the synthesis and/or structure of type I procollagen or by recessively inherited mutations in genes responsible for the posttranslational processing/traff...