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Faculty

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Veronique M Lefebvre, PhD

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Professor of Orthopaedic Surgery
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Department: Orthopaedic Surgery
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1f Graduate Group Affiliations 8 a
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46 Contact information
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Translational Program in Pediatric Orthopaedics
3d Department of Surgery/Division of Orthopaedic Surgery
2b Children's Hospital of Philadelphia
1e 3615 Civic Center Blvd
43 Abramson Research Building, 907a
Philadelphia, PA 19104
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2e Office: 215-590-0146
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13 Education:
21 9 B.S. 28 (Zoology, Molecular Genetics) c
43 Université Catholique de Louvain, Belgium, 1982.
21 a Ph.D. 27 (Cell Biology, Biochemistry) c
43 Université Catholique de Louvain, Belgium, 1990.
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Selected Publications

bc Angelozzi M, Karvande A, Lefebvre V: SOXC are critical regulators of adult bone mass. Nat Commun 15(1): 2956, 2024.

16c Molin AN, Contentin R, Angelozzi M, Karvande A, Kc R, Haseeb A, Voskamp C, de Charleroy C, and Lefebvre V: Skeletal growth is enhanced by a shared role for SOX8 and SOX9 in promoting reserve chondrocyte commitment to columnar proliferation. Proc Natl Acad Sci USA 121(8): e2316969121, 2024.

127 Angelozzi M, Pellegrino da Silva R, Gonzalez MV, Lefebvre V.: Single-cell atlas of craniogenesis uncovers SOXC-dependent, highly proliferative, and myofibroblast-like osteodermal progenitors. Cell Rep 40: 111045, Jul 2022.

301 Angelozzi M, Karvande A, Molin AN, Ritter AL, Leonard JMM, Savatt JM, Douglass K, Myers SM, Grippa M, Tolchin D, Zackai E, Donoghue S, Hurst ACE, Descartes M, Smith K, Velasco D, Schmanski A, Crunk A, Tokita MJ, de Lange IM, van Gassen K, Robinson H, Guegan K, Suri M, Patel C, Bournez M, Faivre L, Tran-Mau-Them F, Baker J, Fabie N, Weaver K, Shillington A, Hopkin RJ, Barge-Schaapveld DQCM, Ruivenkamp CA, Bökenkamp R, Vergano S, Seco Moro MN, Díaz de Bustamante A, Misra VK, Kennelly K, Rogers C, Friedman J, Wigby KM, Lenberg J, Graziano C, Ahrens-Nicklas RC, Lefebvre V.: Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome. J Med Genet 2022.

17e Haseeb A, Kc R, Angelozzi M, de Charleroy C, Rux D, Tower RJ, Yao L, Pellegrino da Silva R, Pacifici M, Qin L, Lefebvre V.: SOX9 keeps growth plates and articular cartilage healthy by inhibiting chondrocyte dedifferentiation/osteoblastic redifferentiation. Proc Natl Acad Sci U S A 118: e2019152118, Feb 2021.

4d4 Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A; Deciphering Developmental Disorder Study; Klee EW, Lefebvre V, Clark KJ, Depienne C.: Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genet Med 2020.

3ad Tolchin D, Yeager JP, Prasad P, Dorrani N, Russi AS, Martinez-Agosto JA, Haseeb A, Angelozzi M, Santen GWE, Ruivenkamp C, Mercimek-Andrews S, Depienne C, Kuechler A, Mikat B, Ludecke HJ, Bilan F, Le Guyader G, Gilbert-Dussardier B, Keren B, Heide S, Haye D, Van Esch H, Keldermans L, Ortiz D, Lancaster E, Krantz ID, Krock BL, Pechter KB, Arkader A, Medne L, DeChene ET, Calpena E, Melistaccio G, Wilkie AOM, Suri M, Foulds N; Genomics England Research Consortium; Begtrup A, Henderson LB, Forster C, Reed P, McDonald MT, McConkie-Rosell A, Thevenon J, Le Tanno P, Coutton C, Tsai ACH, Stewart S, Maver A, Gorazd R, Pichon O, Nizon M, Cogné B, Isidor B, Martin-Coignard D, Stoeva R, Lefebvre V, Le Caignec C.: De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas. Am J Hum Genet 106: 830-845, Jun 2020.

102 Haseeb Abdul, Lefebvre Véronique: The SOXE transcription factors-SOX8, SOX9 and SOX10-share a bi-partite transactivation mechanism. Nucleic acids research 47(13): 6917-6931, Jul 2019.

de Angelozzi Marco, Lefebvre Véronique: SOXopathies: Growing Family of Developmental Disorders Due to SOX Mutations. Trends in genetics : TIG Jul 2019.

1c0 Zawerton Ash, Yao Baojin, Yeager J Paige, Pippucci Tommaso, Haseeb Abdul, Smith Joshua D, Wischmann Lisa, Kühl Susanne J, Dean John C S, Pilz Daniela T, Holder Susan E, McNeill Alisdair, Graziano Claudio, Lefebvre Véronique: De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. American journal of human genetics 104(4): 777, Apr 2019.

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