Brugmann Lab

Publications

Showpnil, IA; Feinstein-Goren, N; Greenbaum, L; Barel, O; Koboldt, DC; Brugmann, SA; Weaver, KN; Slavotinek, A; Pode-Shakked, B; Stottmann, RW. Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome. Clinical Genetics. 2025.

Pimentel, L; Ha, S; Yang, Y; Cochran, K; Chang, C-F; Houghtaling, S; Gombart, SK; Beier, DR; Brugmann, SA. Centriolar protein PIBF1 is required for craniofacial and forebrain development. Developmental Biology. 2025; 527:55-64.

Bartusel, M; Kim, SX; Rehimi, R; Darnell, AM; Nikolić, M; Heggemann, J; Kolovos, P; Van Ijcken, WFJ; Varineau, J; Crispatzu, G; Laugsch, M; Ludwig, KU; Rada-Iglesias, A; Calo, E. A non-syndromic orofacial cleft risk locus links tRNA splicing defects to neural crest cell pathologies. American Journal of Human Genetics. 2025; 112(5):1097-1116.

Halurkar, MS; Inoue, O; Singh, A; Mukherjee, R; Ginugu, M; Ahn, C; Bonatto Paese, CL; Duszynski, M; Brugmann, SA; Lim, H-W; Sanchez-Gurmaches, J. The widely used Ucp1-Cre transgene elicits complex developmental and metabolic phenotypes. Nature Communications. 2025; 16(1):770.

Michaels, J-R; Iyyanar, PPR; Husami, A; Vontell, AM; Brugmann, SA; Stottmann, RW. Genetic analysis and functional assessment of a TGFBR2 variant in micrognathia and cleft palate. PLoS ONE. 2025; 20(6):e0324803.

Barnada, SM; Giner De Gracia, A; Morenilla-Palao, C; López-Cascales, MT; Scopa, C; Waltrich, FJ; Mikkers, HMM; Cicardi, ME; Karlin, J; Trotti, D; Santen, GWE; Mcmahon, SB; Herrera, E; Trizzino, M. ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification. American Journal of Human Genetics. 2024; 111(10):2232-2252.

Brugmann, SA; Clouthier, DE; Fantauzzo, KA; Harris, MP; Jeong, J; Saint-Jeannet, J-P; Stottmann, RW; Merrill, AE. The society for craniofacial genetics and developmental biology 46th annual meeting. American Journal of Medical Genetics, Part A. 2024; 194(8):e63615.

Wilderman, A; D'haene, E; Baetens, M; Yankee, TN; Winchester, EW; Glidden, N; Roets, E; Van Dorpe, J; Janssens, S; Miller, DE; Weaver, KN; Brugmann, SA; Cox, TC; Cotney, J. A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development. Nature Communications. 2024; 15(1):136.

Brooks, EC; Han, SJY; Bonatto Paese, CL; Lewis, AA; Aarnio-Peterson, M; Brugmann, SA. The ciliary protein C2cd3 is required for mandibular musculoskeletal tissue patterning. Differentiation. 2024; 138:100782.

Elliott, KH; Balchand, SK; Bonatto Paese, CL; Chang, C-F; Yang, Y; Brown, KM; Rasicci, DT; He, H; Thorner, K; Chaturvedi, P; Murray, SA; Chen, J; Porollo, A; Peterson, KA; Brugmann, SA. Identification of a heterogeneous and dynamic ciliome during embryonic development and cell differentiation. Development. 2023; 150(8).

Bonatto Paese, CL; Chang, C-F; Kristeková, D; Brugmann, SA. Pharmacological intervention of the FGF-PTH axis as a potential therapeutic for craniofacial ciliopathies. Disease Models & Mechanisms. 2022; 15(8).

Brugmann, SA; Merrill, AE; Saint-Jeannet, J-P; Stottmann, RW; Clouthier, DE. The Society for Craniofacial Genetics and Developmental Biology 44th Annual Meeting. American Journal of Medical Genetics, Part A. 2022; 188(7):2258-2266.