Christina M. Jacobsen

Lrp5 functions in bone to regulate bone mass

Yajun Cui, Paul Niziolek, Bryan T. MacDonald et al. · Nature Medicine · 2011 · 444 citations · Full text

Mechanobiology, Signal Transduction, Bone Morphogenic Protein +8

Copy number variation plays an important role in clinical epilepsy

Heather E. Olson, Yiping Shen, Jennifer Avallone et al. · Annals of Neurology · 2014 · 171 citations

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Natalie D. Shaw, Harrison Brand, Zachary A Kupchinsky et al. · Nature Genetics · 2017 · 160 citations · Full text

Rare Diseases, Smchd1 Mutations, Mendelian Disorder +9

Short Stature, Accelerated Bone Maturation, and Early Growth Cessation Due to Heterozygous Aggrecan Mutations

Ola Nilsson, Michael H. Guo, Nancy Dunbar et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 131 citations · Full text

Heterozygous Mutations in Natriuretic Peptide Receptor-B (<i>NPR2</i>) Gene as a Cause of Short Stature

Sophie R. Wang, Christina M. Jacobsen, Heather Carmichael et al. · Human Mutation · 2015 · 97 citations · Full text

Short Stature, Human Growth, Genetics +17