Angela Nenninger

New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6

Michael P. Whyte, William H. McAlister, Fan Zhang et al. · Bone · 2019 · 54 citations

Medicine, Genetics, Molecular Genetics +15

Multicentric carpotarsal osteolysis syndrome is caused by only a few domain‐specific mutations in <i>MAFB</i>, a negative regulator of RANKL‐induced osteoclastogenesis

Steven Mumm, Margaret Huskey, Shenghui Duan et al. · American Journal of Medical Genetics Part A · 2014 · 43 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS

Michael P. Whyte, Malachi Griffith, Lee Trani et al. · Bone · 2017 · 43 citations · Full text

Life Sciences, Dermatology, Genetics +10

Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation

Steven Mumm, Gary S. Gottesman, Deborah Wenkert et al. · Bone · 2019 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Lenz-Majewski Hyperostotic Dwarfism with Hyperphosphoserinuria from a Novel Mutation in <i>PTDSS1</i> Encoding Phosphatidylserine Synthase 1

Michael P. Whyte, Amanda Blythe, William H. McAlister et al. · Journal of Bone and Mineral Research · 2014 · 24 citations · Full text

Medicine, Genetics, Molecular Genetics +17