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Journal of Orthopaedic Surgery and Research|September 7, 2019
Growth factor-mediated augmentation of long bones: evaluation of a BMP-7 loaded thermoresponsive hydrogel in a murine femoral intramedullary injection modelCarl Neuerburg, Lena M Mittlmeier, Alexander M Keppler, et al.American Journal of Medical Genetics. Part A|May 19, 2016
Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutationKaren W Gripp, Laura Baker, Vinay Kandula, et al.American Journal of Medical Genetics. Part A|July 8, 2005
Craniosynostosis: another feature of the 22q11.2 deletion syndromeDonna M McDonald-McGinn, Karen W Gripp, Richard E Kirschner, et al.Nature Medicine|November 20, 2012
Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse modelCalvin S Carter, Timothy W Vogel, Qihong Zhang, et al.The Journal of Pediatrics|May 17, 2024
Delphi Consensus on Diagnostic Criteria for LUMBAR SyndromeDenise Metry, Hillary L Copp, Kristy L Rialon, et al.Human Molecular Genetics|June 14, 2019
A mouse model of Proteus syndromeMarjorie J Lindhurst, Lauren R Brinster, Hannah C Kondolf, et al.Journal of Medical Genetics|December 5, 2008
Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de LangeJ Yan, F Zhang, E Brundage, et al.American Journal of Medical Genetics. Part A|May 31, 2021
Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variantsCaitlin A Chang, Renee Perrier, Kyle C Kurek, et al.American Journal of Human Genetics|February 27, 2019
Pharmacodynamic Study of Miransertib in Individuals with Proteus SyndromeKim M Keppler-Noreuil, Julie C Sapp, Marjorie J Lindhurst, et al.Clinical Genetics|July 9, 2021
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statementSofia Douzgou, Myfanwy Rawson, Eulalia Baselga, et al.Pageof 10