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Emily L. Germain-Lee, MDProfessor of PediatricsChief, Division of Pediatric Endocrinology MD/PhD Program Co-Director
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- Education & Training
- Clinical Interests
- Teaching
- Committees & Organizations
- Research
- Lab Rotations
- Publications
- Presentations
Education
Post-Graduate Training
Awards
| Degree | Institution | Major |
|---|---|---|
| AB | Harvard University | Biochemical Sciences |
| MD | Johns Hopkins University School of Medicine | Medicine |
Post-Graduate Training
| Training | Institution | Specialty |
|---|---|---|
| Internship | Johns Hopkins Hospital | Pediatrics |
| Residency | Johns Hopkins Hospital | Pediatrics |
| Fellowship | Johns Hopkins University School of Medicine | Pediatric Endocrinology |
Awards
| Name of Award/Honor | Awarding Organization |
|---|---|
| Appointed by Representative William Petit of Connecticut House of Representatives to serve on Connecticut Rare Disease Advisory Council as Physician and Research in rare disorders | House of Representatives, Connecticut State government |
| Scientific Advisory Board for Osteogenesis Imperfecta Foundation | Osteogenesis Imperfecta Foundation |
| Elected member, Connecticut Academy of Science & Engineering | Conneticut Academy of Science and Engineering |
| Selected as one of 30 Women of Distinction for Hartford Magazine | Hartford Magazine |
| Hartford Magazine's Best Doctors (for Pediatric Endocrinology) since moving to CT (since 2018) | The Best Doctors in America |
| Connecticut Magazine's Best Doctors (for Pediatric Endocrinology) since moving to CT (since 2018) | The Best Doctors in America |
| Editorial Board of Journal of Clinical Endocrinology and Metabolism: 2017-2019 and 2007-2011 | Journal of Clinical Endocrinology & Metabolism |
| Board of Directors, Human Growth Foundation (2004 - present) | Human Growth Foundation |
| Vice President of Human Growth Foundation | Re-elected |
| Selected member for "Best Children's Hospitals Diabetes and Endocrinology National Working Group" for upcoming US News & World Report Rankings (since 2017) | US News & World Report committee:Best Children's Hospitals, endocrinology |
| Division ranked 43rd in nation in US News & World Report for Best Children's Hospitals (my role: Division Head at Connecticut Children's) | US News & World Report |
| Scientific Advisory Panel, Rare Bone Disease Alliance | Rare Bone Disease Alliance |
| International Expert Consensus Panel on Pseudohypoparathyroidism and Related Disorders | formed 2017; expert on panel for 1st international consensus statement |
| Elected member, Pediatric Endocrine Society | Pediatric Endocrine Society |
| Elected member of Society for Pediatric Research | Society for Pediatric Research |
| Member of Executive Committee (2006-present) | Human Growth Foundation |
| Selected as 1 of 3 International Speakers for "New Treatments for Rare Pediatric Bone Disease" Held at Joint Meeting of the International Congress of Endocrinology and the Endocrine Society | Endocrine Society |
| Selected to give 2 "Meet the Expert" talks on "Diagnosis and Management of Pseudohypoparathyroidism and Related Conditions" at International Meeting of Pediatric Endocrinology (audience > 1,000) (meeting attendance: ~4,000) | Pediatric Endocrine Society |
| Semi-finalist, Distinguished Teaching Society | Johns Hopkins University School of Medicine |
| The Frederick J. Heldrich, M.D. Award for Dedication and Outstanding Contribution to Medical Student Teaching, Department of Pediatrics | Johns Hopkins University School of Medicine |
| Board of Directors | Human Growth Foundation |
| NIH Clinical Investigator Award (K08), NICHD | National Institute of Health |
| Francis F. Schwentker Award for Excellence in Postdoctoral Research | Johns Hopkins University School of Medicine |
| David M. Kamsler Award for Outstanding Compassion and Expert Care of Pediatric Patients (Elected by Faculty, Residents, and Nursing Staff) | Johns Hopkins Hospital |
| Harriet Lane Home Research Fellowship Award | Johns Hopkins Children's Center |
| Helen and Harold Harrison Award for Outstanding Proficiency in Pediatrics | Johns Hopkins University School of Medicine |
| Harold Lamport Biomedical Research Prize | Johns Hopkins University School of Medicine |
| Special Training Program Award | National Cancer Institute |
| Josephine L. Murray Radcliffe Fellowship Award | Harvard University |
| Magna Cum Laude - Biochemical Sciences, Harvard-Radcliffe College | Harvard University |
Rare bone disorders
Student coach for MD/PhD students
Mentoring in lab and clinics
| Name & Description | Category | Role | Type | Scope | Start Year | End Year |
|---|---|---|---|---|---|---|
| Co-Director of MD/PhD Program MD/PhD Admissions Committee | Education Committee | additional role as Co-Director of MD/PhD Program | UConn Health | Local | 2022 | |
| Appointed by Representative William Petit of Connecticut House of Representatives to serve on Connecticut Rare Disease Advisory Council as Physician and Research in rare disorders | Advisory Committee | State Government appointment to Rare Disease Advisory Council | Other | State | 2022 | |
| Scientific Advisory Board for Osteogenesis Imperfecta Foundation | Advisory Committee | Member | External | International | 2022 | |
| Chair of Research Council (elected by members of Research Council), term ends 2021 | Research Committee | Head | UConn Health | Local | 2019 | |
| Selected for Graduate Program in Skeletal Biology and Regenerative Medicine | Education Committee | Member | UConn Health | Local | 2019 | |
| Organizer and moderator (one of three) for 1st Pediatric Bone Symposium | Workshop/Conference | Organizer/Moderator | External | National | 2019 | |
| Abstract Reviewer, 1st Pediatric Bone Symposium | Workshop/Conference | Abstract Reviewer (also Co-organizer) | External | National | 2019 | |
| Organizer (one of three) for 2nd Pediatric Bone Symposium | Workshop/Conference | Organizer/Moderator | External | International | 2019 | |
| Chair of Dean's Council since 9/2022 Member since 2019 | Advisory Committee | member | UConn Health | Local | 2019 | |
| Connecticut Academy of Science and Engineering | Research Committee | Elected member | External | International | 2019 | |
| Chair of Dean's Council, School of Medicine, since 9/2022 (Member since 2019) | Advisory Committee | Chair | UConn Health | Local | 2019 | |
| Research Council member at UConn Health (3-yr term)-Elected by vote of all UConn Health faculty Head of Research Council as of 7/1/19 through 6/30/21 | Research Committee | elected member | UConn Health | Local | 2018 | |
| Chair, Research Council since 2018 - 2nd term (Member of Research Council since 2018) | Advisory Committee | Chair | UConn Health | Local | 2018 | |
| Senior Appointments and Advisory Committee (SAPC), Secondary Reviewer since 2018 | Advisory Committee | secondary reviewer | UConn Health | Local | 2017 | |
| Editorial Board, Journal of Clinical Endocrinology & Metabolism (3-yr term) | Editorial Board | member | External | International | 2017 | 2019 |
| Ultragenyx Pharmaceutical Advisory Board (Rare Bone Disease) | Advisory Committee | member | External | International | 2017 | 2018 |
| Scientific Advisory Panel, Rare Bone Disease Alliance: mission is to expand education and research on rare bone disease and provide assistance to patients and family members. | Advisory Committee | member | External | International | 2017 | |
| Selected to "Best Children's Hospitals Diabetes and Endocrinology National Working Group" for 2021-2022 U.S. New & World Report Rankings, yearly election | Advisory Committee | National Working Group elected member | External | National | 2017 | |
| Program Evaluation Committee for Pediatric Endocrinology Fellowship, University of Connecticut School of Medicine/Connecticut Children's | Education Committee | Member as Division Director | UConn Health | University | 2017 | |
| Serve as a reviewer for multiple journals (approx.1- 2 articles/month not including editorial board article reviews) | Other | Reviewer | External | International | 2017 | |
| Scholarship Oversight Committee for Pediatric Endocrinology Fellowship,University of Connecticut School of Medicine and Connecticut Children's Medical | Advisory Committee | Committee member | UConn Health | Local | 2017 | |
| American Society for Bone and Mineral Research Meeting, Rare Bone Disease Working Group | Workshop/Conference | Member | External | International | 2017 | |
| International Expert Consensus Panel on Diagnosis & Management of Pseudohypoparathyroidism & Related Disorders | Advisory Committee | Investigator/Clinician | Other | University | 2017 | |
| Selected to "Best Children's Hospitals Diabetes and Endocrinology National Working Group" for 2017-2022 U.S. New & World Report Rankings (yearly election) | Advisory Committee | Committee member | Other | University | 2017 | |
| Selected to "Best Children's Hospitals Diabetes and Endocrinology National Working Group" for 2020-2021 U.S. New & World Report Rankings (yearly election) | Advisory Committee | Member of Committee | Other | National | 2017 | |
| Department of Pediatrics Promotions Committee, University of Connecticut School of Medicine/Connecticut Children's | Advisory Committee | reviewer | UConn Health | Local | 2017 | |
| Clinical Competency Committee for Pediatric Endocrinology Fellowship, University of Connecticut School of Medicine | Advisory Committee | Division Director | UConn Health | Local | 2017 | |
| Department of Pediatrics Promotions Committee, University of Connecticut School of Medicine and Connecticut Children's | Advisory Committee | Member of Committee | UConn Health | Local | 2017 | |
| Scientific Advisory Panel, Rare Bone Disease Alliance | Advisory Committee | Member | External | International | 2017 | |
| Division Head of Pediatric Endocrinology and Diabetes, Connecticut Children's Medical Center | Other | Division Head | Other | Regional | 2016 | |
| Director/Founder, Center for Rare Bone Disorders, Connecticut Children’s Medical Center and University of Connecticut School of Medicine | Other | Director and Founder | External | International | 2016 | |
| Founder and Director, Albright Center, University of Connecticut School of Medicine/ Connecticut Children's | Other | Founder, Director | External | International | 2016 | |
| Founder and Co-Director, Osteogenesis Imperfecta Center | Other | Founder and Co-director | Other | National | 2016 | |
| Pediatric Endocrinology Fellowship Interviews, University of Connecticut School of Medicine/Connecticut Children's | Other | Interviewer and aided in decision | UConn Health | Local | 2016 | |
| CME Advisory Board Committee, Johns Hopkins University School of Medicine - invited by Dean | Advisory Committee | University | 2013 | 2016 | ||
| Director of Bone Research at Kennedy Krieger Institute | Director | External | International | 2010 | 2016 | |
| Albright Clinic at Kennedy Krieger Institute; Founded and established Albright Clinic at Kennedy Krieger Institute in 2010; First clinic dedicated to the care and management of patients with Albright hereditary osteodystrophy and related disorders | Founder and Director | External | International | 2010 | 2016 | |
| Combined Genetics-Endocrine Clinic/Research, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine; Established clinic with Dr. Julie Hoover-Fong in Institute of Genetic Medicine; Provides genetics and endocrine care to patients with skeletal dysplasias/rare disorders -- since move to UConn/CCMC, this role is advisory in nature | Other | Co-Founder and Co-Director | External | International | 2010 | |
| Osteogenesis Imperfecta Foundation Scientific Meeting | Professional/Scientific Organization | Researcher | External | International | 2010 | |
| Institutional Review Board (IRB-2 and IRB-X) Pediatrics Representative and Protocol Reviewer, Johns Hopkins Medicine, Office of Human Subjects Research | Advisory Committee | University | 2007 | 2016 | ||
| Editorial Board, Journal of Clinical Endocrinology & Metabolism (5-year term) | Editorial Board | member | External | International | 2007 | 2011 |
| Vice President and member of Executive committee, Human Growth Foundation | Professional/Scientific Organization | Vice President and Executive Committee Member | External | International | 2006 | |
| Vice President of Human Growth Foundation | Professional/Scientific Organization | Vice President | External | International | 2006 | |
| Human Growth Foundation Nominating Committee | Professional/Scientific Organization | Nominating Committee Member | External | International | 2006 | |
| Grant Review Committee, Human Growth Foundation | Research Committee | Grant Reviewer | External | Local | 2006 | |
| Vice President, Human Growth Foundation | Professional/Scientific Organization | Vice President | External | International | 2006 | |
| Board of Directors and Executive Committee, Human Growth Foundation | Professional/Scientific Organization | member | External | International | 2006 | |
| Grant Reviewer, Human Growth Foundation | Professional/Scientific Organization | Grant Reviewer | External | International | 2006 | |
| Institute for Clinical and Translational Research (ICTR) Pediatric Protocol Review and Advisory Committee, Johns Hopkins University School of Medicine, formerly GCRC | Advisory Committee | Protocol Reviewer | University | 2004 | 2016 | |
| Board of Directors, Human Growth Foundation | Other | Board of Directors | External | International | 2004 | |
| Principal Endocrinologist for The Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD | Other | physician/scientist | External | International | 2003 | |
| American Society for Bone and Mineral Research | Professional/Scientific Organization | member | External | International | 2003 | |
| Endocrinologist for The Hunter Nelson Sturge-Weber Center, Kennedy Krieger Institute, Baltimore, MD | Other | physician/scientist | External | International | 2002 | |
| Society for Pediatric Research | Professional/Scientific Organization | Invited member | External | International | 2001 | |
| Pediatric Endocrine Society | Professional/Scientific Organization | Invited member | External | National | 1993 | |
| American Diabetes Association | Professional/Scientific Organization | member | External | National | 1993 | |
| Senior Appointments and Promotions Committee (SAPC), Primary Reviewer | Other | Primary Reviewer | UConn Health | University |
Dr. Germain-Lee's clinical and laboratory research investigations focus on diseases affecting bone, and she established and directs the Center for Rare Bone Disorders at Connecticut Children’s Medical Center. A major focus of her work is Albright hereditary osteodystrophy (AHO), a condition including two subtypes termed pseudohypoparathyroidism type 1a and pseudopseudohypoparathyroidism.
Not accepting lab rotation students at this time
Journal Articles
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Prevalence of Chiari malformation type 1 is increased in pseudohypoparathyroidism type 1A and associated with aberrant bone development.
PloS one 2023 Jan;18(1):e0280463
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Deletion of Gdf15 reduces ER stress-induced beta cell apoptosis and diabetes.
Endocrinology 2022 Mar;
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Functional replacement of myostatin with GDF-11 in the germline of mice.
Skeletal muscle 2022 Mar;12(1):7
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Parental Origin of Gsα Inactivation Differentially Affects Bone Remodeling in a Mouse Model of Albright Hereditary Osteodystrophy.
JBMR plus 2022 Jan;6(1):e10570
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Local versus systemic control of bone and skeletal muscle mass by components of the transforming growth factor-β signaling pathway.
Proceedings of the National Academy of Sciences of the United States of America 2021 Aug;118(33):
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Functional redundancy of type I and type II receptors in the regulation of skeletal muscle growth by myostatin and activin A.
Proceedings of the National Academy of Sciences of the United States of America 2020 Dec;117(49):30907-30917
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Targeting myostatin/activin A protects against skeletal muscle and bone loss during spaceflight.
Proceedings of the National Academy of Sciences of the United States of America 2020 Sep;117(38):23942-23951
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Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients.
Hormone research in paediatrics 2020 Aug;1-15
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Legg-Calve-Perthes disease in an 8-year old girl with Acrodysostosis type 1 on growth hormone therapy: case report.
International journal of pediatric endocrinology 2020 Jan;
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Treatment of rickets and dyslipidemia in twins with progressive familial intrahepatic cholestasis type 2.
International journal of pediatric endocrinology 2020 Jan;20209
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Management of pseudohypoparathyroidism.
Current opinion in pediatrics 2019 May;
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Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI.
The Journal of Clinical Endocrinology and Metabolism 2018 Jan;103(1):158-168
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Activin Receptor Type A 2(ACVR2A) Functions Directly in Osteoblasts as a Negative Regulator of Bone Mass.
The Journal of Biological Chemistry 2017 Jun;292(33):13809-13822
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Cross-sectional and longitudinal growth patterns in osteogenesis imperfecta: implications for clinical care.
Pediatric Research 2016 Mar;79(3):489-95
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Administration of soluble activin receptor 2B increases bone and muscle mass in a mouse model of osteogenesis imperfecta.
Bone research 2015 Jan;314042
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Potential biomarker of metformin action.
The Journal of endocrinology 2014 Jun;221(3):363-9
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Reduced insulin sensitivity in adults with pseudohypoparathyroidism type 1a.
The Journal of clinical endocrinology and metabolism 2013 Nov;98(11):E1796-801
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Importance of utilizing a sensitive free thyroxine assay in Sturge-Weber syndrome.
Journal of child neurology 2013 Feb;28(2):269-74
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Osteogenesis imperfecta: effecting the transition from adolescent to adult medical care.
Journal of musculoskeletal & neuronal interactions 2012 Mar;12(1):24-7
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A new culprit in osteogenesis imperfecta.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2011 Dec;26(12):2795-7
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Report on the Second Endocrine Aspects Of Duchenne Muscular Dystrophy Conference December 1-2, 2010, Baltimore, Maryland, USA.
Neuromuscular disorders : NMD 2011 Aug;21(8):594-601
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Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy.
The Journal of clinical endocrinology and metabolism 2011 Jul;96(7):2065-73
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Heterotopic ossifications in a mouse model of albright hereditary osteodystrophy.
PloS one 2011 Jan;6(6):e21755
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Bone mineral density in pseudohypoparathyroidism type 1a.
The Journal of clinical endocrinology and metabolism 2010 Sep;95(9):4465-75
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Imprinting status of Galpha(s), NESP55, and XLalphas in cell cultures derived from human embryonic germ cells: GNAS imprinting in human embryonic germ cells.
Clinical and translational science 2009 Oct;2(5):355-60
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Central hypothyroidism and Sturge-Weber syndrome.
Pediatric neurology 2008 Jul;39(1):58-62
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Patients with mutations in Gsalpha have reduced activation of a downstream target in epithelial tissues due to haploinsufficiency.
The Journal of clinical endocrinology and metabolism 2007 Oct;92(10):3941-8
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Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity.
The Journal of clinical endocrinology and metabolism 2007 Mar;92(3):1073-9
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Growth hormone deficiency in Sturge-Weber syndrome.
Archives of disease in childhood 2006 Apr;91(4):340-1
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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 : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2006 Jan;17(5):731-40
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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
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Calcium kinetics are altered in clinically stable girls with cystic fibrosis.
The Journal of clinical endocrinology and metabolism 2004 Jul;89(7):3385-91
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Endogenous fecal losses of calcium compromise calcium balance in pancreatic-insufficient girls with cystic fibrosis.
The Journal of pediatrics 2003 Dec;143(6):765-71
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Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance.
The Journal of clinical endocrinology and metabolism 2003 Sep;88(9):4059-69
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Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1.
American journal of human genetics 2003 Aug;73(2):314-22
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Efficiency of calcium absorption is not compromised in clinically stable prepubertal and pubertal girls with cystic fibrosis.
The American journal of clinical nutrition 2003 Jul;78(1):110-6
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Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a.
Biochemical and biophysical research communications 2002 Aug;296(1):67-72
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Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.
Nature genetics 1997 Dec;17(4):445-8
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NVL: a new member of the AAA family of ATPases localized to the nucleus.
Genomics 1997 Aug;44(1):22-34
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Characterization of a cDNA library enriched for a novel peroxisomal gene.
Annals of the New York Academy of Sciences 1996 Dec;804739-41
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Isolation and characterization of rat and human cDNAs encoding a novel putative peroxisomal enoyl-CoA hydratase.
Genomics 1995 Jun;27(3):457-66
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Hypocalcemia in nonwhite breast-fed infants. Vitamin D deficiency revisited.
Clinical pediatrics 1992 Nov;31(11):695-8
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Expression of a type I insulin-like growth factor receptor with low affinity for insulin-like growth factor II.
The Biochemical journal 1992 Jan;281 ( Pt 2)413-7
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[Protrusive excursive double plate. A protrusion treatment aid].
Das Dental-Labor. Le Laboratoire dentaire. The Dental laboratory 1988 Jun;36(6):750-8
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Age-related anti-thyroid antibodies and thyroid abnormalities in Turner syndrome.
Acta paediatrica Scandinavica 1986 Sep;75(5):750-5
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Endoderm-secreted factor stimulates growth of embryonal carcinoma stem cells.
In vitro cellular & developmental biology : journal of the Tissue Culture Association 1986 Feb;22(2):107-12
Book Chapters
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Effects of aging on bone: Chapter 3.
A Comprehensive Guide to Geriatric Rehabilitation, 3rd edition 2014 Dec;14-18
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Growth and growth hormone use in osteogenesis imperfecta; Chap 29.
Osteogenesis Imperfecta: A Translational Approach to Brittle Bone Disease, 1st edition, 2013 Dec;267-280
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Diabetes; Chapter 48
Geriatric Rehabilitation Manual, 2nd edition; 2007 Dec;307-313
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Effects of aging on bone; Chapter 3.
Geriatric Rehabilitation Manual, 2nd edition 2007 Dec;13-15
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Primary hyperparathyroidism and other causes of hypercalcemia in children and adolescents; Chapter 46.
The Parathyroids: Basic and Clinical Concepts, 2nd edition 2001 Dec;743-753
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The Thyroid; Chapter 11
Hospital Care of the Recovering NICU Infant 1991 Dec;161-175
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Expression of keratins and envelope proteins in normal and malignant human keratinocytes and mesothelial cells; Chap 3.
Human Carcinogenesis 1983 Dec;85-96
Abstracts
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Gnas heterozygous inactivation in a mouse model of Albright hereditary osteodystrophy differentially affects cortical bone formation based upon parental inheritance of mutation.
Journal of Bone and Mineral Research 2020 Sep;
Case Reports
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Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy.
Journal of pediatric endocrinology & metabolism : JPEM 2015 Jul;28(7-8):911-8
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High-dose glucocorticoid therapy in the management of seizures in neonatal incontinentia pigmenti: a case report.
Journal of child neurology 2015 Jan;30(1):100-6
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Multiple miliary osteoma cutis is a distinct disease entity: four case reports and review of the literature.
The British journal of dermatology 2011 Mar;164(3):544-52
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Twenty-nail dystrophy associated with hematologic abnormalities.
Acta paediatrica Scandinavica 1991 Oct;80(10):977-80
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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).
The Journal of pediatrics 1990 Jul;117(1 Pt 1):96-9
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Gynecomastia as a presenting sign of fibrolamellar carcinoma of the liver.
Pediatrics 1988 Sep;82(3):379-82
Letters
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Partial Hypopituitarism in Patients With Sturge-Weber Syndrome.
Pediatric neurology 2015 Sep;53(3):e5-6
Reviews
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Aberrant Bone Regulation in Albright Hereditary Osteodystrophy dueto Gnas Inactivation: Mechanisms and Translational Implications.
Current osteoporosis reports 2022 Feb;
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Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.
Nature reviews. Endocrinology 2018 Jun;14476-500
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Immune-Modulating Therapy for Rheumatologic Disease: Implications for Patients with Diabetes.
Current Diabetes Reports 2016 Oct;16(10):91
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Rare bone disease research – future directions: a symposium devoted to a discussion of rare bone diseases.
Sem Arthritis Rheum. 2013 Dec;42(5):545-550
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Hypercalcemia in children and adolescents.
Current opinion in pediatrics 2010 Aug;22(4):508-15
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Physiological functions of the imprinted Gnas locus and its protein variants Galpha(s) and XLalpha(s) in human and mouse.
The Journal of endocrinology 2008 Feb;196(2):193-214
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Short stature, obesity, and growth hormone deficiency in pseudohypoparathyroidism type 1a.
Pediatric endocrinology reviews : PER 2006 Apr;3 Suppl 2318-27
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Genetic basis for resistance to parathyroid hormone.
Hormone research 2003 Jan;60 Suppl 387-95
| Title or Abstract | Type | Sponsor/Event | Date/Year | Location |
|---|---|---|---|---|
| "Pseudohypoparathyroidism and Related DIsorders: The Ultimate Combination of Fascinating Genetics and Endocrine Abnormalities," 6/17/2022 | Lecture | Johns Hopkins University School of Medicine, Dept of Genetics | 2022 | Johns Hopkins -virtual |
| NASA Television Station: what's on Board: Space X CRS-19" -television show for live audience | Other | NASA pre-launch of RR-19 rodent mission: Mighty Mice in Space | 2019 | Kenney Space Center, NASA press headquarters |
| "From Rare Bone Disorders to Type 1 Diabetes" | Talk | Connecticut Children's Foundation | 2019 | Connecticut Children's |
| "Albright Hereditary Osteodystrophy" | Lecture | UConn Bone Research Group | 2019 | UConn Health |
| State advocacy for Rare Bone Disorders: "Rare Bone Disorders: Helping Through Clinical Care & Research" presented to Connecticut State Legislature | Talk | Task Force to Study Rare Diseases, State of Connecticut General Assembly | 2018 | Hartford, CT |
| Rare Bone Disorders: From Bedside to Bench and Back-- Pediatric Translational Research Seminar Series | Talk | Univ of Connecticut Dept of Pediatrics/ Connnecticut Children's | 2018 | UConn Health |
| Dean's Faculty Research Seminar, University of Connecticut School of Medicine; Albright Hereditary Osteodystrophy: From Bedside to Bench and Back Again | Talk | University of Connecticut School of Medicine | 2017 | Farmington, CT |
| Presentation to Board of Connecticut Children's Medical Center; Center for Rare Bone Disorders | Talk | Connecticut Children's Medical Center | 2017 | Hartford, CT |
| Presentation to Leadership Committee, CCMC/CCSG Leadership; Center for Rare Bone Disorders | Talk | Connecticut Children's | 2017 | Hartford, CT |
| Bone Research Group weekly meeting entitled "Research in Progress"; Albright Hereditary Osteodystrophy (for all researchers in bone disease at UConn Health) | Talk | UConn Health | 2017 | Farmington, CT |
| State of Connecticut Higher Education Legislature testimony advocating for the University of Connecticut School of Medicine (testimony for protecting budget)- 10/2/17 | Panel Discussion | University of Connecticut School of Medicine | 2017 | University of Connecticut School of Medicine |
| "Meet the Expert" - Diagnosis and Management of Pseudohypoparathyroidism and Related Conditions. (Invited) (Given twice, audience >1000) | Plenary Lecture | 10th International Pediatric Endocrine Society Meeting | 2017 | Washington, D.C. |
| Rare Bone Disorders: From Bedside to Bench and Beyond; 50th Anniversary of Department of Pediatrics at University of Connecticut School of Medicine | Plenary Lecture | Dept of Pediatrics, UConn School of Medicine/Connecticut Children's | 2017 | Hartford, CT |
| Vision for the Future of the Division of Pediatric Endocrinology, Connecticut Children's Medical Center | Talk | Connecticut Children's Medical Center | 2017 | Connecticut Children's, Farmington |
| Update for Vision for the Future of the Division of Pediatric Endocrinology,Connecticut Children's Medical Center | Talk | Connecticut Children's Medical Center | 2017 | Connecticut Children's, Farmington |
| International Expert Consensus on Pseudohypoparathyroidism and Related Disorders -- Invited expert as member of Working Group 3: Clinical Management | Other | Internat'l Expert Consensus on Pseudohypoparathyroidism/Related Disorders | 2017 | Chantilly-Gouvieux, France |
| "Adrenal Disorders" at "31st Annual Pediatrics Update" at Danbury Hospital | Lecture | Danbury Hospital | 2016 | Danbury, CT |
| Endocrine Scholars Conference, “Albright hereditary osteodystrophy: From Bedside to Bench and Back” | Talk | Division of Endocrinology, University of Connecticut School of Medicine | 2016 | Farmington, CT |