Selected Publications
Angelozzi M, Karvande A, Lefebvre V: SOXC are critical regulators of adult bone mass Nat Commun 15 (1): 2956,2024.
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.
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 : 111045,2022.
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.
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 : e2019152118,2021.
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.
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 : 830-845,2020.
Haseeb Abdul, Lefebvre Véronique: The SOXE transcription factors-SOX8, SOX9 and SOX10-share a bi-partite transactivation mechanism. Nucleic acids research 47 (13): 6917-6931,2019.
Angelozzi Marco, Lefebvre Véronique: SOXopathies: Growing Family of Developmental Disorders Due to SOX Mutations. Trends in genetics : TIG : 2019.
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): 777,2019.
Academic Contact Information
Translational Program in Pediatric Orthopaedics
Department of Surgery/Division of Orthopaedic Surgery
Children's Hospital of Philadelphia
3615 Civic Center Blvd
Abramson Research Building, 907a
Philadelphia,
PA
19104
Phone: 215-590-0146