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Christina M. Jacobsen · SciRah

Researcher profile · Semantic Scholar

Christina M. Jacobsen

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Christina M. Jacobsen — researcher profile on SciRah

h-index: 18
Works: 31
Citations: 1,737

Most-cited papers

Lrp5 functions in bone to regulate bone mass
Yajun Cui, P. Niziolek, Bryan T. MacDonald, Cassandra R. Zylstra +19 more
2011Nature Medicine459 citations Open access
Semantic Scholar
Copy number variation plays an important role in clinical epilepsy
Heather E. Olson, Yi-Ping Shen, J. Avallone, B. Sheidley +40 more
2014Annals of Neurology168 citations Open access
Semantic Scholar
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
N. Shaw, H. Brand, Zachary A. Kupchinsky, Hemant Bengani +74 more
2017Nature Genetics148 citations Open access
Semantic Scholar
Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.
O. Nilsson, Michael H. Guo, N. Dunbar, J. Popovic +6 more
2014Journal of Clinical Endocrinology and Metabolism126 citations Open access
Semantic Scholar
Transcription factor GATA-6 is expressed in the endocrine and GATA-4 in the exocrine pancreas.
I. Ketola, T. Otonkoski, Mari-Anne Pulkkinen, H. Niemi +4 more
2004Molecular and Cellular Endocrinology100 citations
Semantic Scholar
Genetic mosaic analysis reveals that GATA-4 is required for proper differentiation of mouse gastric epithelium.
Christina M. Jacobsen, N. Narita, M. Bielińska, A. Syder +2 more
2002Developmental Biology98 citations Open access
Semantic Scholar
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature
Sophie Wang, Christina M. Jacobsen, H. Carmichael, Aaron B. Edmund +9 more
2015Human Mutation89 citations Open access
Semantic Scholar
Prospective phenotyping of long-term survivors of Generalized Arterial Calcification of Infancy (GACI)
C. Ferreira, Mary E. Hackbarth, S. G. Ziegler, Kristen S. Pan +19 more
2020Genetics in Medicine85 citations Open access
Semantic Scholar
Sclerostin Inhibition Reverses Skeletal Fragility in an Lrp5-Deficient Mouse Model of OPPG Syndrome
R. Kedlaya, Shreya S. Veera, D. Horan, R. E. Moss +6 more
2013Science Translational Medicine80 citations Open access
Semantic Scholar
GATA-4, GATA-5, and GATA-6 activate the rat liver fatty acid binding protein gene in concert with HNF-1alpha.
Joyce K. Divine, Lora J. Staloch, H. Haveri, Christina M. Jacobsen +3 more
2004American Journal of Physiology - Gastrointestinal and Liver Physiology79 citations
Semantic Scholar
Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium.
O. V. Fofanova-Gambetti, V. Hwa, J. Wit, H. Domené +16 more
2010Journal of Clinical Endocrinology and Metabolism54 citations Open access
Semantic Scholar
SINGLE CELL RNA SEQUENCING OF CALVARIAL AND LONG BONE ENDOCORTICAL CELLS
U. Ayturk, Joseph P. Scollan, Didem Goz Ayturk, Eun Sung Suh +4 more
2020Journal of Bone and Mineral Research52 citations Open access
Semantic Scholar
Three Novel IGFALS Gene Mutations Resulting in Total ALS and Severe Circulating IGF-I/IGFBP-3 Deficiency in Children of Different Ethnic Origins
O. V. Fofanova-Gambetti, V. Hwa, S. Kirsch, C. Pihoker +6 more
2009Hormone Research in Paediatrics36 citations
Semantic Scholar
Bone Mineral Properties in Growing Col1a2+/G610C Mice, an animal model of Osteogenesis Imperfecta
M. Masci, Min Wang, L. Imbert, Aileen M. Barnes +8 more
2016Bone35 citations Open access
Semantic Scholar
GATA‐4:FOG interactions regulate gastric epithelial development in the mouse
Christina M. Jacobsen, S. Mannisto, Susan B. Porter-Tinge, E. Genova +5 more
2005Developmental Dynamics32 citations Open access
Semantic Scholar
The Outcomes of Nonelongating Intramedullary Fixation of the Lower Extremity for Pediatric Osteogenesis Imperfecta Patients: A Meta-analysis
Joseph P. Scollan, J. Jauregui, Christina M. Jacobsen, J. Abzug
2017Journal of pediatric orthopedics25 citations
Semantic Scholar
Enhanced Wnt signaling improves bone mass and strength, but not brittleness, in the Col1a1+/mov13 mouse model of type I Osteogenesis Imperfecta
Christina M. Jacobsen, Marissa Schwartz, Heather J. Roberts, Kyung-eun Lim +5 more
2016Bone20 citations Open access
Semantic Scholar
Insight into the Ontogeny of GnRH Neurons from Patients Born Without a Nose.
A. Delaney, Rita Volochayev, Brooke N Meader, Janice S. Lee +42 more
2020Journal of Clinical Endocrinology and Metabolism19 citations Open access
Semantic Scholar
Application of anti-Sclerostin therapy in non-osteoporosis disease models
Christina M. Jacobsen
2016Bone15 citations Open access
Semantic Scholar
Combination therapy in the Col1a2G610C mouse model of Osteogenesis Imperfecta reveals an additive effect of enhancing LRP5 signaling and inhibiting TGFβ signaling on trabecular bone but not on cortical bone
Shannon M Kaupp, Ho-Ran Dan, Kyung-eun Lim, H. Feldman +3 more
2019Bone9 citations Open access
Semantic Scholar
Genetics of skeletal proportions in two different populations
Eric Bartell, Kuang Lin, K. Tsuo, W. Gan +13 more
2023bioRxiv4 citations Open access
Semantic Scholar
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
N. Shaw, H. Brand, Zachary A. Kupchinsky, Hemant Bengani +74 more
2017Nature Genetics4 citations Open access
Semantic Scholar
Short stature in a phenotypic male caused by mixed gonadal dysgenesis
Christina M. Jacobsen, L. Cohen
2008Nature Clinical Practice Endocrinology &Metabolism3 citations
Semantic Scholar
Genetic Testing and Counseling
S. Brewster, Christina M. Jacobsen, Yi-Ping Shen, I. Holm
20131 citations
Semantic Scholar
SUN-219 Human Congenital Arhinia Is Associated with GnRH Deficiency and Primary Testicular Defects
A. Delaney, Rita Volochayev, Brooke N Meader, Janice S. Lee +32 more
2019Journal of the Endocrine Society0 citations Open access
Semantic Scholar
Chapter 10 – Genetic Testing and Counseling
S. Brewster, Christina M. Jacobsen, Yi-Ping Shen, I. Holm
20180 citations
Semantic Scholar
Pediatric Maxillofacial Conditions and Drugs
Srinivas M Susarla, Christina M. Jacobsen, S. Abramowicz
20140 citations
Semantic Scholar
Proximal tibial pain in a child
E. Henderson, Christina M. Jacobsen, Rebecca A. Pohlmann, H. Kozakewich +2 more
2013Skeletal Radiology0 citations Open access
Semantic Scholar
Approaches to Genetic Testing
Christina M. Jacobsen, Yi-Ping Shen, I. Holm
2013Primer on the metabolic bone diseases and disorders of mineral metabolism0 citations
Semantic Scholar
Rajendra Kedlaya Mouse Model of OPPG Syndrome Sclerostin Inhibition Reverses Skeletal Fragility in an Lrp 5-Deficient
R. Kedlaya, Shreya S. Veera, D. Horan, R. E. Moss +6 more
20130 citations
Semantic Scholar
Proximal tibial pain in a child
E. Henderson, Christina M. Jacobsen, Rebecca A. Pohlmann, H. Kozakewich +2 more
2013Skeletal Radiology0 citations Open access
Semantic Scholar

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