Research and Clinical Trials
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Emily L. Germain-Lee, M.D.
Albright Clinic at Kennedy Krieger
801 N. Broadway, Room 583
Kennedy Krieger Institute
Baltimore, MD 21205
Office: 443-923-2703
Fax: 443-923-2705



  1. Germain EL and Littlefield JW: Endoderm-secreted factor stimulates growth of embryonal carcinoma stem cells. In Vitro Cellular and Developmental Biology 22: 107-112, 1986.
  2. Germain EL and Plotnick LP: Age-related anti-thyroid antibodies and thyroid abnormalities in Turner Syndrome. Acta Paediatrica Scandinavica 75:750-755, 1986.
  3. McCloskey JJ, Germain-Lee EL, Perman JA, Janoski AH, and Plotnick LP: Gynecomastia as a presenting sign of fibrolamellar carcinoma of the liver. Pediatrics 82:379-382, 1988.
  4. Germain-Lee EL, Schiffman G, Mules EH, and Lederman HM: Selective deficiency of antibody responses to polysaccharide antigens in a child mosaic for partial Trisomy 1 [46,XX,dir dup (1) (q12- ->q23)/46,XX]. Journal of Pediatrics 117:96-99, 1990.
  5. Germain-Lee EL and Zinkham WH: Twenty-nail dystrophy associated with hematologic abnormalities. Acta Paediatrica Scandinavica 80:977-980, 1991.
  6. Germain-Lee EL, Janicot M, Lammers R, Ullrich A, and Casella SJ: Expression of a type I insulin-like growth factor receptor with low affinity for insulin-like growth factor II. Biochemical Journal 281:413-417, 1992.
  7. Chang YT, Germain-Lee EL, Doran TF, Migeon CJ, Levine MA, and Berkovitz GH: Hypocalcemia in non-white breast-fed infants: Vitamin D deficiency revisited. Clinical Pediatrics 31:695-698, 1992.
  8. FitzPatrick DR, Germain-Lee E, and Valle D: Isolation and characterization of rat and human cDNAs encoding a novel putative peroxisomal enoyl-CoA hydratase. Genomics 27:457-466, 1995.
  9. FitzPatrick DR, Jimenez-Sanchez G, Germain-Lee E, and Valle D: Characterization of a cDNA library enriched for a novel peroxisomal gene. Annals of the New York Academy of Sciences 804: 739-741, 1996.
  10. Germain-Lee EL, Obie C, and Valle D: NVL: A new member of the AAA family of ATPases localized to the nucleus. Genomics 44:22-34, 1997. Cover article.
  11. Reuber BE, Germain-Lee E, Collins CS, Morrell JC, Ameritunga R, Moser HW, Valle D, and Gould SJ: Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. Nature Genetics 17:445-448, 1997.
  12. Germain-Lee EL, Ding CL, Deng Z, Crane JL, Saji M, Ringel MD, and Levine MA: Paternal imprinting of Gαs in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a. Biochemical and Biophysical Research Communications 296:67-72, 2002.
  13. Schulze KJ, O’Brien KO, Germain-Lee EL, Baer D, Leonard A, and Rosenstein BJ: Efficiency of calcium reabsorption is not compromised among clinically stable pre- pubertal and pubertal girls with Cystic Fibrosis. American Journal of Clinical Nutrition 78:110-116, 2003.
  14. Germain-Lee EL, Groman J, Crane JL, Jan de Beur SM, and Levine, MA: Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. Journal of Clinical Endocrinology and Metabolism 88:4059-4069, 2003. Special Feature article (with accompanying editorial).
  15. Jan de Beur S, Ding C, Germain-Lee EL, Cho J, Maret A, and Levine MA: Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1. American Journal of Human Genetics 73:314-322, 2003.
  16. Schulze KJ, O’Brien KO, Germain-Lee EL, Baer DJ, Leonard ALR, and Rosenstein BJ: Endogenous fecal losses of calcium compromise calcium balance in pancreatic-insufficient girls with cystic fibrosis. Journal of Pediatrics 143:765-771, 2003.
  17. Levine MA, Germain-Lee EL, Jan de Beur S: Genetic basis for resistance to parathyroid hormone. Hormone Research, 60 Suppl 3:87-95, 2003.
  18. Schulze KJ, O’Brien KO, Germain-Lee EL, Booth S, Leonard A, and Rosenstein BJ: Calcium kinetics are altered in clinically stable girls with cystic fibrosis. Journal of Clinical Endocrinology and Metabolism 89: 3385-3391, 2004.
  19. Germain-Lee EL, Schwindinger W, Crane JL, Zewdu R, Zweifel L, Wand G, Huso DL, Motoyasu S, Ringel MD, and Levine MA: A mouse model of Albright hereditary osteodystrophy generated by targeted disruption of exon 1 of the Gnas gene. Endocrinology 146: 4697-4709, 2005.
  20. Miller RS, Ball KL, Comi AM, and Germain-Lee EL: Growth hormone deficiency in Sturge-Weber syndrome. Archives of Disease in Childhood 91: 771-775, 2006.
  21. Schulze KJ, Cutchins C, Rosenstein BJ, Germain-Lee EL, and O'Brien KO: Calcium acquisition rates do not support age-appropriate gains in total body bone mineral content in prepuberty and late puberty in girls with cystic fibrosis. Osteoporosis International 17: 731- 740, 2006.
  22. Germain-Lee EL: Short stature, obesity, and growth hormone deficiency in pseudohypoparathyroidism type 1a. Pediatric Endocrinology Reviews Volume 3, Suppl 2: 318- 327, 2006.
  23. Long DN, Levine MA, and Germain-Lee EL: Bone mineral density in patients with pseudohypoparathyroidism type 1a. EndoTrends Volume 12, Issue 4, p. 4, 2006.
  24. Long DN, McGuire S, Levine MA, Weinstein LS, and Germain-Lee EL: Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Gαs in the development of human obesity. Journal of Clinical Endocrinology and Metabolism, 92(3): 1073-1079, 2007. [Highlighted in Endocrine News, 32(3):8, 2007]
  25. Hsu SC, Groman JD, Merlo CA, Naughton K, Zeitlin PL, Germain-Lee EL, Boyle MP, and Cutting GR: Patients with mutations in Gsα have reduced activation of a downstream target in epithelial tissues due to haploinsufficiency. Journal of Clinical Endocrinology and Metabolism, 92(10):3941-3948, 2007.
  26. Plagge A, Kelsey G, and Germain-Lee EL: Physiological functions of the imprinted Gnas locus and its protein variants Gαs and XLαs in human and mouse. Journal of Endocrinology, 96(2): 193-214, 2008.
  27. Comi AM, Bellamkonda S, Ferenc LM, Cohen BA, Germain-Lee EL: Central hypothyroidism and Sturge-Weber Syndrome. Pediatric Neurology, 39(1): 58-62, 2008.
  28. Crane JL, Shamblott MJ, Axelman J, Hsu S, Levine MA, and Germain-Lee EL: Imprinting status of Gαs, NESP55, and XLαs in cell cultures derived from human embryonic germ cells. Clinical and Translational Science, 2 (5): 355-360, 2009.
  29. Lietman SA, Germain-Lee EL, and Levine MA: Hypercalcemia in children and adolescents. Current Opinion in Pediatrics 22 (4): 508-515, 2010.
  30. Long DN, Levine MA, and Germain-Lee EL: Bone mineral density in pseudohypoparathyroidism type 1a. Journal of Clinical Endocrinology and Metabolism 95(9): 4465-4475, 2010.
  31. Myllyla RM, Haapasaari KM, Palatsi R, Germain-Lee EL, Hagg PM, Ignatius J, and Tuukkanen J: Multiple miliary osteoma cutis is a distinct disease entity: four case reports and review of the literature. British Journal of Dermatology 164(3): 544-552, 2011.
  32. Joseph AW, Shoemaker AH, and Germain-Lee EL: Increased prevalence of carpal tunnel syndrome in Albright hereditary osteodystrophy. Journal of Clinical Endocrinology and Metabolism 96(7): 2065-2073, 2011.
  33. Huso DL, Edie S, Levine MA, Schwindinger W, Wang Y, Jüppner H, and Germain-Lee EL: Heterotopic ossifications in a mouse model of Albright hereditary osteodystrophy. PLoS One, 6(6): e21755, 2011.
  34. Leung DG, Germain-Lee EL, Denger BE, and Wagner KR: Report on the Second Endocrine Aspects of Duchenne Muscular Dystrophy Conference, December 1-2, 2010, Baltimore, Maryland, USA. Neuromuscular Disorders 21(8): 594-601, 2011.
  35. Germain-Lee EL: A new culprit in osteogenesis imperfecta. Journal of Bone and Mineral Research 26(12): 2795-2797, 2011.
  36. Shapiro JR and Germain-Lee, EL. Osteogenesis imperfecta: Effecting the transition from adolescent to adult medical care. Journal of Musculoskeletal and Neuronal Interactions 12(1): 24-27, 2012.
  37. Siddique L, Sreenivasan A, Comi AM, Germain-Lee EL. Importance of utilizing a sensitive free T4 assay in Sturge-Weber Syndrome. J Child Neurol. 28(2):266-271, 2013.
  38. Muniyappa R, Warren MA, Zhao X, Aney SC, Courville AB, Chen KY, Brychta RJ, Germain-Lee EL, Weinstein LS, Skarulis MC. Reduced insulin sensitivity in adults with pseudohypoparathyroidism type 1a. J Clin Endocrinol Metab. 98(11):E1796-1801, 2013.

  39. Shapiro JR, Germain-Lee EL. Rare bone disease research - future directions: a symposium devoted to a discussion of rare bone diseases. Sem Arthritis Rheum. 42(5):545-550, 2013.
  40. He L, Meng S, Germain-Lee E, Radovick S, Wondisford FE. Potential biomarker of metformin action. J Endocrinol. 221(3):363-369, 2014. (One of 5 top journal articles selected by Society for Endocrinology for 2014).
  41. DiGirolamo DJ, Singhal V, Chang X, Lee S-J, Germain-Lee EL. Administration of soluble activin receptor 2B increases bone and muscle mass in a mouse model of osteogenesis imperfecta. Bone Res. 3:14042, 2015. doi:10.1038/boneres.2014.42.
  42. Wolf DS, Golden WC, Hoover-Fong J, Applegate C, Cohen BA, Germain-Lee EL, Goldberg MF, Crawford TO, Gauda EB. High-dose glucocorticoid therapy in the management of seizures in neonatal incontinentia pigmenti: a case report. J Child Neurol. 30(1):100-106, 2015.
  43. Lin MH, Numbenjapon N, Germain-Lee EL, Pitukcheewanont P. Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy. J Pediatr Endocrinol Metab. 2015 Apr 18 [Epub ahead of print] doi: 10.1515/jpem-2014-0435.
  44. Bachur C, Comi A, Germain-Lee EL. Partial hypopituitarism in patients with Sturge-Weber syndrome. Pediatr Neurol., in press, 2015.

Book Chapters

  1. Rheinwald JG, Germain EL, and Beckett MA. Expression of keratins and envelope proteins in normal and malignant human keratinocytes and mesothelial cells; Chapter 3. In: Harris CC and Autrup HN (eds), Human Carcinogenesis; New York, Academic Press, pp. 85-96, 1983.
  2. Germain-Lee EL and Plotnick LP. The Thyroid; Chapter 11. In: Jones MD, Gleason CA & Lipstein SU (eds), Hospital Care of the Recovering NICU Infant; Baltimore, William & Wilkins, pp. 161-175, 1991.
  3. Germain-Lee EL and Levine MA. Primary hyperparathyroidism and other causes of hypercalcemia in children and adolescents; Chapter 46. In: Bilezikian JP, Marcus R, and Levine MA (eds), The Parathyroids: Basic and Clinical Concepts, 2nd edition; San Diego, Academic Press, pp. 743-753, 2001.
  4. Germain-Lee EL , Checovich MM, Smith EL, and Lundon K. Effects of Aging on Bone; Chapter 3. In: Kauffman TL, Barr J, & Moran M (eds), Geriatric Rehabilitation Manual, 2nd edition; London, Elsevier Press, pp. 13-15, 2007.
  5. Long DN, Probst C, Kelley DE, and Germain-Lee EL. Diabetes; Chapter 48. In: Kauffman TL, Barr J, & Moran M (eds), Geriatric Rehabilitation Manual, 2nd edition; London, Elsevier Press, pp. 307-313, 2007.
  6. Germain-Lee EL and Frank G: Small for Gestational Age, Human Growth Foundation, 2010. (Booklet)
  7. Germain-Lee EL, DiGirolamo DJ, Plotkin H. Growth and growth hormone use in osteogenesis imperfecta; Chap 29. Shapiro JR, Byers PH, Glorieux F, Sponseller PD (eds): Osteogenesis Imperfecta: A Translational Approach to Brittle Bone Disease, 1st edition, Elsevier Press, 2013:267-280.
  8. DiGirolamo DJ, Germain-Lee EL. Effects of aging on bone: Chapter 3. Kauffman TL, Scott R, Barr JO, Moran ML (eds): A Comprehensive Guide to Geriatric Rehabilitation, 3rd edition; London, Elsevier Press, 2014:14-18.

Additional Articles

  1. Germain-Lee EL: Vitamin D supplements are underused. Pediatric News, 39 (8): 20, 2005.
  2. Paternal Imprinting of Gαs and Human Obesity. Endocrine News, 32(3): 8, 2007.
  3. Height and Weight in Osteogenesis Imperfecta: Impact of OI Type and Age in a Large Cohort. Endocrine Society Presentation, 2013

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