My Bibliography

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McMullan P, Maye P, Root SH, Yang Q, Edie S, Rowe D, Kalajzic I, Germain-Lee EL. Alpha-smooth muscle actin-expressing dermal sheath cells are a major cellular contributor to heterotopic subcutaneous ossifications in a mouse model of Albright hereditary osteodystrophy. JBMR Plus. 2025 May;9(5):ziaf038. doi: 10.1093/jbmrpl/ziaf038. eCollection 2025 May. PubMed PMID: 40256763; PubMed Central PMCID: PMC12009542.

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Germain-Lee EL, Levine MA. Pseudohypoparathyroidism. In: Bilezikian JP, editor. Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism 10 ed. Philadelphia, PA: The American Society of Bone and Mineral Research, Wolters Kluwer; 2025. Chapter 91; p.615-628. 1068p.

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Germain-Lee EL, Levine MA. Pseudohypoparathyroidism. In: Radovick S, Misra M, editors. Pediatric Endocrinology [Internet] 4 ed. Switzerland: Springer, Cham; 2024. Chapter 22; p.557-601. 1118p. Available from: https://doi.org/10.1007/978-3-031-66296-6_22.

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Krishnan N, McMullan P, Yang Q, Buscarello AN, Germain-Lee EL. Prevalence of Chiari malformation type 1 is increased in pseudohypoparathyroidism type 1A and associated with aberrant bone development. PLoS One. 2023;18(1):e0280463. doi: 10.1371/journal.pone.0280463. eCollection 2023. PubMed PMID: 36662765; PubMed Central PMCID: PMC9858345.

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Xu G, Chen J, Jo S, Grayson TB, Ramanadham S, Koizumi A, Germain-Lee EL, Lee SJ, Shalev A. Deletion of Gdf15 Reduces ER Stress-induced Beta-cell Apoptosis and Diabetes. Endocrinology. 2022 May 1;163(5). doi: 10.1210/endocr/bqac030. PubMed PMID: 35290443; PubMed Central PMCID: PMC9272264.

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Lee SJ, Lehar A, Rydzik R, Youngstrom DW, Bhasin S, Liu Y, Germain-Lee EL. Functional replacement of myostatin with GDF-11 in the germline of mice. Skelet Muscle. 2022 Mar 15;12(1):7. doi: 10.1186/s13395-022-00290-z. PubMed PMID: 35287700; PubMed Central PMCID: PMC8922734.

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McMullan P, Germain-Lee EL. Aberrant Bone Regulation in Albright Hereditary Osteodystrophy dueto Gnas Inactivation: Mechanisms and Translational Implications. Curr Osteoporos Rep. 2022 Feb;20(1):78-89. doi: 10.1007/s11914-022-00719-w. Epub 2022 Feb 28. Review. PubMed PMID: 35226254.

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McMullan P, Maye P, Yang Q, Rowe DW, Germain-Lee EL. Parental Origin of Gsα Inactivation Differentially Affects Bone Remodeling in a Mouse Model of Albright Hereditary Osteodystrophy. JBMR Plus. 2022 Jan;6(1):e10570. doi: 10.1002/jbm4.10570. eCollection 2022 Jan. PubMed PMID: 35079678; PubMed Central PMCID: PMC8771002.

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Smegal LF, Lin DD, Cho A, Cho S, Kalb LG, Cohen B, Germain-Lee EL, Comi AM. Vitamin D and neurological status in Sturge-Weber syndrome. Journal of Vascular Anomalies. 2021 December; 2(4):e025.

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Liu Y, Lehar A, Rydzik R, Chandok H, Lee YS, Youngstrom DW, George J, Matzuk MM, Germain-Lee EL, Lee SJ. Local versus systemic control of bone and skeletal muscle mass by components of the transforming growth factor-β signaling pathway. Proc Natl Acad Sci U S A. 2021 Aug 17;118(33). doi: 10.1073/pnas.2111401118. PubMed PMID: 34385332; PubMed Central PMCID: PMC8379946.

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Lee SJ, Lehar A, Liu Y, Ly CH, Pham QM, Michaud M, Rydzik R, Youngstrom DW, Shen MM, Kaartinen V, Germain-Lee EL, Rando TA. Functional redundancy of type I and type II receptors in the regulation of skeletal muscle growth by myostatin and activin A. Proc Natl Acad Sci U S A. 2020 Dec 8;117(49):30907-30917. doi: 10.1073/pnas.2019263117. Epub 2020 Nov 20. PubMed PMID: 33219121; PubMed Central PMCID: PMC7733802.

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Lee SJ, Lehar A, Meir JU, Koch C, Morgan A, Warren LE, Rydzik R, Youngstrom DW, Chandok H, George J, Gogain J, Michaud M, Stoklasek TA, Liu Y, Germain-Lee EL. Targeting myostatin/activin A protects against skeletal muscle and bone loss during spaceflight. Proc Natl Acad Sci U S A. 2020 Sep 22;117(38):23942-23951. doi: 10.1073/pnas.2014716117. Epub 2020 Sep 8. PubMed PMID: 32900939; PubMed Central PMCID: PMC7519220.

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Lim WY, Germain-Lee EL, Dunbar NS. Legg-Calve-Perthes disease in an 8-year old girl with Acrodysostosis type 1 on growth hormone therapy: case report. Int J Pediatr Endocrinol. 2020;2020:15. doi: 10.1186/s13633-020-00085-3. Epub 2020 Aug 7. PubMed PMID: 32782451; PubMed Central PMCID: PMC7412821.

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Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Garcia Ramirez A, Germain-Lee EL, Groussin L, Hamdy NAT, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A. Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients. Horm Res Paediatr. 2020;93(3):182-196. doi: 10.1159/000508985. Epub 2020 Aug 5. Review. PubMed PMID: 32756064; PubMed Central PMCID: PMC8140671.

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Sura SR, Germain-Lee EL. Treatment of rickets and dyslipidemia in twins with progressive familial intrahepatic cholestasis type 2. Int J Pediatr Endocrinol. 2020;2020:9. doi: 10.1186/s13633-020-00079-1. Epub 2020 May 26. PubMed PMID: 32508937; PubMed Central PMCID: PMC7249403.

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Germain-Lee EL. Management of pseudohypoparathyroidism. Curr Opin Pediatr. 2019 Aug;31(4):537-549. doi: 10.1097/MOP.0000000000000783. Review. PubMed PMID: 31145125; PubMed Central PMCID: PMC6641088.

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Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A. Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement. Nat Rev Endocrinol. 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. Review. PubMed PMID: 29959430; PubMed Central PMCID: PMC6541219.

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Salemi P, Skalamera Olson JM, Dickson LE, Germain-Lee EL. Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI. J Clin Endocrinol Metab. 2018 Jan 1;103(1):158-168. doi: 10.1210/jc.2017-00860. PubMed PMID: 29059381; PubMed Central PMCID: PMC5761497.

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Goh BC, Singhal V, Herrera AJ, Tomlinson RE, Kim S, Faugere MC, Germain-Lee EL, Clemens TL, Lee SJ, DiGirolamo DJ. Activin receptor type 2A (ACVR2A) functions directly in osteoblasts as a negative regulator of bone mass. J Biol Chem. 2017 Aug 18;292(33):13809-13822. doi: 10.1074/jbc.M117.782128. Epub 2017 Jun 28. PubMed PMID: 28659341; PubMed Central PMCID: PMC5566533.

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Pilla SJ, Quan AQ, Germain-Lee EL, Hellmann DB, Mathioudakis NN. Immune-Modulating Therapy for Rheumatologic Disease: Implications for Patients with Diabetes. Curr Diab Rep. 2016 Oct;16(10):91. doi: 10.1007/s11892-016-0792-9. Review. PubMed PMID: 27525682; PubMed Central PMCID: PMC6031126.

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Germain-Lee EL, Brennen FS, Stern D, Kantipuly A, Melvin P, Terkowitz MS, Shapiro JR. Cross-sectional and longitudinal growth patterns in osteogenesis imperfecta: implications for clinical care. Pediatr Res. 2016 Mar;79(3):489-95. doi: 10.1038/pr.2015.230. Epub 2015 Nov 5. PubMed PMID: 26539664.

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Bachur CD, Comi AM, Germain-Lee EL. Partial Hypopituitarism in Patients With Sturge-Weber Syndrome. Pediatr Neurol. 2015 Sep;53(3):e5-6. doi: 10.1016/j.pediatrneurol.2015.04.005. Epub 2015 Jun 15. PubMed PMID: 26166325.

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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 Jul;28(7-8):911-8. doi: 10.1515/jpem-2014-0435. PubMed PMID: 25894639.

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DiGirolamo DJ, Singhal V, Chang X, Lee SJ, Germain-Lee EL. Administration of soluble activin receptor 2B increases bone and muscle mass in a mouse model of osteogenesis imperfecta. Bone Res. 2015;3:14042. doi: 10.1038/boneres.2014.42. eCollection 2015. PubMed PMID: 26161291; PubMed Central PMCID: PMC4472144.

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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. 2015 Jan;30(1):100-6. doi: 10.1177/0883073813517509. Epub 2014 Mar 28. PubMed PMID: 24682289.

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He L, Meng S, Germain-Lee EL, Radovick S, Wondisford FE. Potential biomarker of metformin action. J Endocrinol. 2014 Jun;221(3):363-9. doi: 10.1530/JOE-14-0084. Epub 2014 Mar 17. PubMed PMID: 24639469; PubMed Central PMCID: PMC4038674.

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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. 2013 Nov;98(11):E1796-801. doi: 10.1210/jc.2013-1594. Epub 2013 Sep 12. PubMed PMID: 24030943; PubMed Central PMCID: PMC3816268.

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Siddique L, Sreenivasan A, Comi AM, Germain-Lee EL. Importance of utilizing a sensitive free thyroxine assay in Sturge-Weber syndrome. J Child Neurol. 2013 Feb;28(2):269-74. doi: 10.1177/0883073812463606. Epub 2012 Oct 30. PubMed PMID: 23112245.

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Shapiro JR, Germain-Lee EL. Osteogenesis imperfecta: effecting the transition from adolescent to adult medical care. J Musculoskelet Neuronal Interact. 2012 Mar;12(1):24-7. PubMed PMID: 22373948.

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Germain-Lee EL. A new culprit in osteogenesis imperfecta. J Bone Miner Res. 2011 Dec;26(12):2795-7. doi: 10.1002/jbmr.540. PubMed PMID: 22105742.

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Leung DG, Germain-Lee EL, Denger BE, Wagner KR. Report on the Second Endocrine Aspects Of Duchenne Muscular Dystrophy Conference December 1-2, 2010, Baltimore, Maryland, USA. Neuromuscul Disord. 2011 Aug;21(8):594-601. doi: 10.1016/j.nmd.2011.04.008. Epub 2011 Jul 16. PubMed PMID: 21763136.

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Joseph AW, Shoemaker AH, Germain-Lee EL. Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy. J Clin Endocrinol Metab. 2011 Jul;96(7):2065-73. doi: 10.1210/jc.2011-0013. Epub 2011 Apr 27. PubMed PMID: 21525160; PubMed Central PMCID: PMC3135204.

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Huso DL, Edie S, Levine MA, Schwindinger W, Wang Y, Jüppner H, Germain-Lee EL. Heterotopic ossifications in a mouse model of albright hereditary osteodystrophy. PLoS One. 2011;6(6):e21755. doi: 10.1371/journal.pone.0021755. Epub 2011 Jun 29. PubMed PMID: 21747923; PubMed Central PMCID: PMC3126840.

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Myllylä RM, Haapasaari KM, Palatsi R, Germain-Lee EL, Hägg PM, Ignatius J, Tuukkanen J. Multiple miliary osteoma cutis is a distinct disease entity: four case reports and review of the literature. Br J Dermatol. 2011 Mar;164(3):544-52. doi: 10.1111/j.1365-2133.2010.10121.x. Epub 2011 Feb 17. Review. PubMed PMID: 21062265.

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Long DN, Levine MA, Germain-Lee EL. Bone mineral density in pseudohypoparathyroidism type 1a. J Clin Endocrinol Metab. 2010 Sep;95(9):4465-75. doi: 10.1210/jc.2010-0498. Epub 2010 Jul 7. PubMed PMID: 20610593; PubMed Central PMCID: PMC2936057.

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Lietman SA, Germain-Lee EL, Levine MA. Hypercalcemia in children and adolescents. Curr Opin Pediatr. 2010 Aug;22(4):508-15. doi: 10.1097/MOP.0b013e32833b7c23. Review. PubMed PMID: 20601885; PubMed Central PMCID: PMC2967024.

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Crane JL, Shamblott MJ, Axelman J, Hsu S, Levine MA, Germain-Lee EL. Imprinting status of Galpha(s), NESP55, and XLalphas in cell cultures derived from human embryonic germ cells: GNAS imprinting in human embryonic germ cells. Clin Transl Sci. 2009 Oct;2(5):355-60. doi: 10.1111/j.1752-8062.2009.00148.x. PubMed PMID: 20443919; PubMed Central PMCID: PMC4434047.

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Comi AM, Bellamkonda S, Ferenc LM, Cohen BA, Germain-Lee EL. Central hypothyroidism and Sturge-Weber syndrome. Pediatr Neurol. 2008 Jul;39(1):58-62. doi: 10.1016/j.pediatrneurol.2008.03.018. PubMed PMID: 18555176.

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Plagge A, Kelsey G, Germain-Lee EL. Physiological functions of the imprinted Gnas locus and its protein variants Galpha(s) and XLalpha(s) in human and mouse. J Endocrinol. 2008 Feb;196(2):193-214. doi: 10.1677/JOE-07-0544. Review. PubMed PMID: 18252944.

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Hsu SC, Groman JD, Merlo CA, Naughton K, Zeitlin PL, Germain-Lee EL, Boyle MP, Cutting GR. Patients with mutations in Gsalpha have reduced activation of a downstream target in epithelial tissues due to haploinsufficiency. J Clin Endocrinol Metab. 2007 Oct;92(10):3941-8. doi: 10.1210/jc.2007-0271. Epub 2007 Jul 24. PubMed PMID: 17652219.

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Long DN, McGuire S, Levine MA, Weinstein LS, Germain-Lee EL. Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity. J Clin Endocrinol Metab. 2007 Mar;92(3):1073-9. doi: 10.1210/jc.2006-1497. Epub 2006 Dec 12. PubMed PMID: 17164301; NIHMSID:NIHMS170472.

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Germain-Lee EL. Short stature, obesity, and growth hormone deficiency in pseudohypoparathyroidism type 1a. Pediatr Endocrinol Rev. 2006 Apr;3 Suppl 2:318-27. Review. PubMed PMID: 16675931.

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Miller RS, Ball KL, Comi AM, Germain-Lee EL. Growth hormone deficiency in Sturge-Weber syndrome. Arch Dis Child. 2006 Apr;91(4):340-1. doi: 10.1136/adc.2005.082578. PubMed PMID: 16551788; PubMed Central PMCID: PMC2065976.

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Schulze KJ, Cutchins C, Rosenstein BJ, Germain-Lee EL, 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. Osteoporos Int. 2006;17(5):731-40. doi: 10.1007/s00198-005-0041-6. Epub 2006 Feb 28. PubMed PMID: 16505982.

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Germain-Lee EL, Schwindinger W, Crane JL, Zewdu R, Zweifel LS, Wand G, Huso DL, Saji M, Ringel MD, Levine MA. A mouse model of albright hereditary osteodystrophy generated by targeted disruption of exon 1 of the Gnas gene. Endocrinology. 2005 Nov;146(11):4697-709. doi: 10.1210/en.2005-0681. Epub 2005 Aug 11. PubMed PMID: 16099856.

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Schulze KJ, O'Brien KO, Germain-Lee EL, Booth SL, Leonard A, Rosenstein BJ. Calcium kinetics are altered in clinically stable girls with cystic fibrosis. J Clin Endocrinol Metab. 2004 Jul;89(7):3385-91. doi: 10.1210/jc.2003-031879. PubMed PMID: 15240619.

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Schulze KJ, O'brien KO, Germain-Lee EL, Baer DJ, Leonard AL, Rosenstein BJ. Endogenous fecal losses of calcium compromise calcium balance in pancreatic-insufficient girls with cystic fibrosis. J Pediatr. 2003 Dec;143(6):765-71. doi: 10.1067/S0022-3476(03)00539-0. PubMed PMID: 14657825.

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Germain-Lee EL, Groman J, Crane JL, Jan de Beur SM, Levine MA. Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. J Clin Endocrinol Metab. 2003 Sep;88(9):4059-69. doi: 10.1210/jc.2003-030028. PubMed PMID: 12970262.

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Jan de Beur S, Ding C, Germain-Lee E, Cho J, Maret A, Levine MA. Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1. Am J Hum Genet. 2003 Aug;73(2):314-22. doi: 10.1086/377136. Epub 2003 Jul 11. PubMed PMID: 12858292; PubMed Central PMCID: PMC1180370.

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Schulze KJ, O'Brien KO, Germain-Lee EL, Baer DJ, Leonard A, Rosenstein BJ. Efficiency of calcium absorption is not compromised in clinically stable prepubertal and pubertal girls with cystic fibrosis. Am J Clin Nutr. 2003 Jul;78(1):110-6. doi: 10.1093/ajcn/78.1.110. PubMed PMID: 12816779.