Selected Publications

Weber DR, Sabbagh Y, Partridge E, Levine MA: Characterization of bone density, strength, and mineral metabolism in 20 adults with monoallelic ENPP1pathogenic variants. Joint Congress of European Society of Pediatric Endocrinology and European Society of Endocrinology. Copenhagen, Denmark. Poster Presentation May 2025.

Seefried L, Weber D, Malloy L, O’Brien C, du Moulin R, Gunter K, Mughal Z: Prospective observational registry for ENPP1 deficiency and early onset ABCC6 deficiency. Joint Congress of European Society of Pediatric Endocrinology and European Society of Endocrinology. Copenhagen, Denmark. Poster Presentation May 2025.

Levine MA, Li D, Roizen J, Weber D: Letter to the editor in response to Duan X, et al, CYP4A22 Loss-of-Function Causes A New Type of Vitamin D-dependent Rickets (VDDR1C). JBMR Plus 40(3): 445-6, Mar 2025.

Bharucha-Goebel D, Tamaroff J, Merchant N, Tian C, Sbrocchi A, Weber D, Ward LM: AAV-mediated Gene Therapy and High-Dose, Peri-Gene Steroid Prescription: Considerations for Monitoring and Management of Adrenal Insufficiency. Muscular Dystrophy Association. Muscular Dystrophy Association. Dallas, TX, USA. Poster Presentation March 2025.

Freedman DS, Zemel BS, Weber DR, Dietz WH. : Racial and Ethnicity Differences in the Relation of BMI to Adiposity among 8- to 19-year-olds. J Pediatr 277(114375), Feb 2025.

Kruse MTA, Dubbelink BAS, Kroneman M, de Groot I, Schluter S, de Visser M, Evangelista T, Moretti A, Weber D, Ward LM, Voermans NC, EURO-NMD Bone Strength Study Group: Awareness of bone strength in patients with neuromuscular disorders: ERN EURO-NMD clinician survey and European patient survey. J Neurol Sci Feb 2025.

Ward LM, Weber DR, Wong SC, Apkon S, Clemens PR, Cripe LH, McMillan HJ, Mercuri E, Nasomyont N, Phung K, Renthal NE, Rutter ME, Tian C, Wood CL, Zeitler PS, Buccella F, Kinnett K, Furlong P, on behalf the International OPTIMIZE DMD Consortium: A Parent Project Muscular Dystrophy-Sponsored International Workshop Report on Endocrine and Bone Issues in Patients with Duchenne Muscular Dystrophy: An Ever-Changing Landscape. April 26 to 28, 2023, Rome, Italy. J Neuromuscul Dis 12(1): 22143602241303370, Jan-Feb 2025.

Alzoebie L, Dong L, Weber DR, Levine MA: Unusual PHEX variants implicate uncommon genetic mechanisms for X-linked Hypophosphatemic rickets. JBMR Plus 9(1): ziae152, Nov 2024.

Gera S, Guo M, Pollock N, Hampton I, Song M, Weber D, Denburg M, Mostoufi-Moab S: Assessing Bone Mineral Density and Cortical Geometry Using High-resolution Peripheral Quantitative Computed Tomography and Dual Energy X-ray Absorptiometry in Pediatric Survivors of High-risk Neuroblastoma with Growth Failure. JES 8(Supplement 1), October 2024 Notes: Poster abstract presented at Endocrine Society. Boston, MA, USA. June 2024.

Weber, David R: Building a Strong Foundation: How to Support Your Child's Bone Health. Bone Health and Osteoporosis Foundation: Bone Talk Podcast Series October 2024.