Publications
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Beyond one gene-one disease: alternative strategies for deciphering genetic determinants of osteoporosis. Calcif Tissue Int. 1997 ;60(3):225-8.
. Differentially expressed nucleolar TGF-beta1 target (DENTT) in mouse development. Dev Dyn. 2003 ;226(3):491-511.
. Identification of quantitative trait loci affecting murine long bone length in a two-generation intercross of LG/J and SM/J Mice. J Bone Miner Res. 2008 ;23(6):887-95.
. Pleiotropic patterns of quantitative trait loci for 70 murine skeletal traits. Genetics. 2008 ;178(4):2275-88.
. Replication of long-bone length QTL in the F9-F10 LG,SM advanced intercross. Mamm Genome. 2009 ;20(4):224-35.
. WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. Am J Med Genet A. 2012 ;158A(11):2917-24.
. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities. Am J Med Genet A. 2019 ;179(10):2056-2066.
. COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 ;108(9):1710-1724.
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