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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 16, 2018
Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the LiteratureHadley Stevens Smith, J Michael Swint, Seema R Lalani, et al.American Journal of Medical Genetics. Part A|December 21, 2018
Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literatureMaureen Handoko, Lisa T Emrick, Jill A Rosenfeld, et al.Human Molecular Genetics|March 18, 2014
The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutationsKyu Sang Joeng, Yi-Chien Lee, Ming-Ming Jiang, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|July 12, 2026
Bone phenotype in a mouse model of Classical Ehlers Danlos syndrome with Col5a1 haploinsufficiencyKeren Machol, Catherine G Ambrose, Deidre N Meyers, et al.Molecular Genetics and Metabolism|December 24, 2015
Restoration of the serum level of SERPINF1 does not correct the bone phenotype in Serpinf1 null miceAbbhirami Rajagopal, Erica P Homan, Kyu Sang Joeng, et al.American Journal of Medical Genetics. Part A|April 8, 2015
Adult presentation of X-linked Conradi-Hünermann-Happle syndromeJennifer E Posey, Lindsay C Burrage, Philippe M Campeau, et al.Cancer Cell|September 10, 2014
Notch activation as a driver of osteogenic sarcomaJianning Tao, Ming-Ming Jiang, Lichun Jiang, et al.Biorxiv : the Preprint Server for Biology|September 2, 2025
KneEZ Clear, an Effective Tissue Clearing Protocol to Study Musculoskeletal Tissues in the MouseJulia Younis, Taeyong Ahn, Luis Tovias, et al.Human Molecular Genetics|August 10, 2012
Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosisPhilippe M Campeau, James T Lu, Gautam Sule, et al.Human Molecular Genetics|November 5, 2021
Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers-Danlos syndromeKeren Machol, Urszula Polak, Monika Weisz-Hubshman, et al.Pageof 9