Current Environment: Production

Christina Jacobsen | Medical Services

Programs & Services

Languages

  • English

Christina Jacobsen | Education

Medical School

Washington University School of Medicine

2005, St. Louis, MO

Internship

Pediatrics

Boston Children's Hospital

2006, Boston, MA

Residency

Pediatrics

Boston Children's Hospital

2007, Boston, MA

Fellowship

Pediatric Endocrinology and Genetics

Harvard Medical School/Boston Children's Hospital

2011, Boston, MA

Christina Jacobsen | Certifications

  • American Board of Medical Genetics and Genomics (Clinical Genetics)
  • American Board of Pediatrics (Endocrinology)
  • American Board of Pediatrics (General)

Christina Jacobsen | Professional History

Dr. Christina Jacobsen is a pediatric endocrinologist and geneticist with a particular interest in genetic bone diseases including osteogenesis imperfecta and skeletal dysplasia as well metabolic bone disease. She sees patients in Endocrinology and with the Orthopedic Surgeons in the Orthopedic clinic.

Christina Jacobsen | Publications

  1. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. View Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. Abstract

  2. Case 21-2024: A 10-Month-Old Boy with Vomiting and Hypercalcemia. N Engl J Med. 2024 Jul 11; 391(2):167-176. View Case 21-2024: A 10-Month-Old Boy with Vomiting and Hypercalcemia. Abstract

  3. Genetics of skeletal proportions in two different populations. bioRxiv. 2023 May 30. View Genetics of skeletal proportions in two different populations. Abstract

  4. 4-PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis Imperfecta. J Bone Miner Res. 2022 04; 37(4):675-686. View 4-PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis Imperfecta. Abstract

  5. Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI). Genet Med. 2021 02; 23(2):396-407. View Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI). Abstract

  6. Single-Cell RNA Sequencing of Calvarial and Long-Bone Endocortical Cells. J Bone Miner Res. 2020 10; 35(10):1981-1991. View Single-Cell RNA Sequencing of Calvarial and Long-Bone Endocortical Cells. Abstract

  7. Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose. J Clin Endocrinol Metab. 2020 05 01; 105(5). View Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose. Abstract

  8. Combination therapy in the Col1a2G610C mouse model of Osteogenesis Imperfecta reveals an additive effect of enhancing LRP5 signaling and inhibiting TGFß signaling on trabecular bone but not on cortical bone. Bone. 2020 02; 131:115084. View Combination therapy in the Col1a2G610C mouse model of Osteogenesis Imperfecta reveals an additive effect of enhancing LRP5 signaling and inhibiting TGFß signaling on trabecular bone but not on cortical bone. Abstract

  9. Retinoic-acid-induced osteogenesis of hiPSCs. Nat Biomed Eng. 2019 07; 3(7):504-506. View Retinoic-acid-induced osteogenesis of hiPSCs. Abstract

  10. The Outcomes of Nonelongating Intramedullary Fixation of the Lower Extremity for Pediatric Osteogenesis Imperfecta Patients: A Meta-analysis. J Pediatr Orthop. 2017 Jul/Aug; 37(5):e313-e316. View The Outcomes of Nonelongating Intramedullary Fixation of the Lower Extremity for Pediatric Osteogenesis Imperfecta Patients: A Meta-analysis. Abstract

  11. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb; 49(2):238-248. View SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Abstract

  12. Application of anti-Sclerostin therapy in non-osteoporosis disease models. Bone. 2017 03; 96:18-23. View Application of anti-Sclerostin therapy in non-osteoporosis disease models. Abstract

  13. Enhanced Wnt signaling improves bone mass and strength, but not brittleness, in the Col1a1(+/mov13) mouse model of type I Osteogenesis Imperfecta. Bone. 2016 09; 90:127-32. View Enhanced Wnt signaling improves bone mass and strength, but not brittleness, in the Col1a1(+/mov13) mouse model of type I Osteogenesis Imperfecta. Abstract

  14. Bone mineral properties in growing Col1a2(+/G610C) mice, an animal model of osteogenesis imperfecta. Bone. 2016 06; 87:120-9. View Bone mineral properties in growing Col1a2(+/G610C) mice, an animal model of osteogenesis imperfecta. Abstract

  15. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature. Hum Mutat. 2015 Apr; 36(4):474-81. View Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature. Abstract

  16. Reply to Lrp5 regulation of bone mass and gut serotonin synthesis. Nat Med. 2014 Nov; 20(11):1229-30. View Reply to Lrp5 regulation of bone mass and gut serotonin synthesis. Abstract

  17. Targeting the LRP5 pathway improves bone properties in a mouse model of osteogenesis imperfecta. J Bone Miner Res. 2014 Oct; 29(10):2297-306. View Targeting the LRP5 pathway improves bone properties in a mouse model of osteogenesis imperfecta. Abstract

  18. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58. View Copy number variation plays an important role in clinical epilepsy. Abstract

  19. Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations. J Clin Endocrinol Metab. 2014 Aug; 99(8):E1510-8. View Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations. Abstract

  20. Sclerostin inhibition reverses skeletal fragility in an Lrp5-deficient mouse model of OPPG syndrome. Sci Transl Med. 2013 Nov 13; 5(211):211ra158. View Sclerostin inhibition reverses skeletal fragility in an Lrp5-deficient mouse model of OPPG syndrome. Abstract

  21. An RNA-seq protocol to identify mRNA expression changes in mouse diaphyseal bone: applications in mice with bone property altering Lrp5 mutations. J Bone Miner Res. 2013 Oct; 28(10):2081-93. View An RNA-seq protocol to identify mRNA expression changes in mouse diaphyseal bone: applications in mice with bone property altering Lrp5 mutations. Abstract

  22. Proximal tibial pain in a child. Skeletal Radiol. 2013 Sep; 42(9):1333-6. View Proximal tibial pain in a child. Abstract

  23. Proximal tibial pain in a child. Skeletal Radiol. 2013 Sep; 42(9):1297-9, 1333-6. View Proximal tibial pain in a child. Abstract

  24. Lrp5 functions in bone to regulate bone mass. Nat Med. 2011 Jun; 17(6):684-91. View Lrp5 functions in bone to regulate bone mass. Abstract

  25. Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium. J Clin Endocrinol Metab. 2010 Sep; 95(9):4184-91. View Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium. Abstract

  26. Craniocerebral trauma--congruence between post-mortem computed tomography diagnoses and autopsy results: a 2-year retrospective study. Forensic Sci Int. 2010 Jan 30; 194(1-3):9-14. View Craniocerebral trauma--congruence between post-mortem computed tomography diagnoses and autopsy results: a 2-year retrospective study. Abstract

  27. Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins. Horm Res. 2009; 71(2):100-10. View Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins. Abstract

  28. Short stature in a phenotypic male caused by mixed gonadal dysgenesis. Nat Clin Pract Endocrinol Metab. 2008 Sep; 4(9):524-8. View Short stature in a phenotypic male caused by mixed gonadal dysgenesis. Abstract

  29. GATA-4:FOG interactions regulate gastric epithelial development in the mouse. Dev Dyn. 2005 Oct; 234(2):355-62. View GATA-4:FOG interactions regulate gastric epithelial development in the mouse. Abstract

  30. Transcription factor GATA-6 is expressed in the endocrine and GATA-4 in the exocrine pancreas. Mol Cell Endocrinol. 2004 Oct 29; 226(1-2):51-7. View Transcription factor GATA-6 is expressed in the endocrine and GATA-4 in the exocrine pancreas. Abstract

  31. GATA-4, GATA-5, and GATA-6 activate the rat liver fatty acid binding protein gene in concert with HNF-1alpha. Am J Physiol Gastrointest Liver Physiol. 2004 Nov; 287(5):G1086-99. View GATA-4, GATA-5, and GATA-6 activate the rat liver fatty acid binding protein gene in concert with HNF-1alpha. Abstract

  32. Genetic mosaic analysis reveals that GATA-4 is required for proper differentiation of mouse gastric epithelium. Dev Biol. 2002 Jan 01; 241(1):34-46. View Genetic mosaic analysis reveals that GATA-4 is required for proper differentiation of mouse gastric epithelium. Abstract

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