Publications

View Google Scholar Page for Dr. Carvalho

Complete list of published work includes 92 co-authored scientific publications.

Publications are available through NCBI:

https://www.ncbi.nlm.nih.gov/myncbi/claudia%20m.%20b..carvalho.1/bibliography/public/

*Co-first author

**Co-senior author

Zhang, C., et al, Carvalho, C.M.B (2022). Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability. HGG Adv 3, 100074. 10.1016/j.xhgg.2021.100074.

Grochowski, C.M., Krepischi, A.C.V., Eisfeldt, J., Du, H., Bertola, D.R., Oliveira, D., Costa, S.S., Lupski, J.R., Lindstrand, A., and Carvalho, C.M.B. (2021). Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome. Front Genet 12, 708348. 10.3389/fgene.2021.708348.

Mitani, T., Isikay, S., Gezdirici, A., Gulec, E.Y., Punetha, J., Fatih, J.M., Herman, I., Akay, G., Du, H., Calame, D.G., et al. (2021). High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. Am J Hum Genet 108, 1981-2005.

Zhang, C., et al,  Carvalho, C.M.B (2021). Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A. Part A 185, 3593-3600.

Pettersson, M., Grochowski, C.M., Wincent, J., Eisfeldt, J., Breman, A.M., Cheung, S.W., Krepischi, A.C.V., Rosenberg, C., Lupski, J.R., Ottosson, J., et al  Carvalho, C.M.B.**, and Lindstrand, A** (2020). Cytogenetically visible inversions are formed by multiple molecular mechanisms. Hum Mutat 41, 1979-1998.

Posey, J.E., O’Donnell-Luria, A.H., Chong, J.X., Harel, T., Jhangiani, S.N., Coban Akdemir, Z.H., Buyske, S., Pehlivan, D., Carvalho, C.M.B., Baxter, S., et al. (2019). Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med 21, 798-812.

Carvalho, C.M.B., Coban-Akdemir, Z., Hijazi, H., Yuan, B., Pendleton, M., Harrington, E., Beaulaurier, J., Juul, S., Turner, D.J., Kanchi, R.S., et al. (2019). Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Genome Med 11, 25.

Beck, C.R.*, Carvalho, C.M.B.*, Akdemir, Z.C., Sedlazeck, F.J., Song, X., Meng, Q., Hu, J., Doddapaneni, H., Chong, Z., Chen, E.S., et al. (2019). Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell 176, 1310-1324 e1310.

White, J.J., Mazzeu, J.F., et al., and Carvalho, C.M.B. (2018). WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet 102, 27-43.

Grochowski, C.M., Gu, S., et al., and Carvalho, C.M.B. et al. (2018). Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes. Hum Mutat 39, 939-946.

Coban-Akdemir, Z., White, J.J., Song, X., Jhangiani, S.N., Fatih, J.M., Gambin, T., Bayram, Y., Chinn, I.K., Karaca, E., Punetha, J., et al. Carvalho, C.M.B. (2018). Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. Am J Hum Genet 103, 171-187.

Liu, P., Yuan, B., Carvalho, C.M., Wuster, A., Walter, K., Zhang, L., Gambin, T., Chong, Z., Campbell, I.M., Coban Akdemir, Z., et al. (2017). An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell 168, 830-842 e837.

Carvalho, C.M., and Lupski, J.R. (2016). Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet 17, 224-238.

White, J., Mazzeu, J.F., Hoischen, A., Jhangiani, S.N., Gambin, T., Alcino, M.C., Penney, S., Saraiva, J.M., Hove, H., Skovby, F., et al., and Carvalho, C.M. (2015). DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet 96, 612-622.

Carvalho, C.M., Pfundt, R., King, D.A., Lindsay, S.J., Zuccherato, L.W., Macville, M.V., Liu, P., Johnson, D., Stankiewicz, P., Brown, C.W., et al. (2015). Absence of heterozygosity due to template switching during replicative rearrangements. Am J Hum Genet 96, 555-564.

Carvalho, C.M., Vasanth, S., Shinawi, M., Russell, C., Ramocki, M.B., Brown, C.W., Graakjaer, J., Skytte, A.B., Vianna-Morgante, A.M., Krepischi, A.C., et al. (2014). Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. Am J Hum Genet 95, 565-578.

Carvalho, C.M., Pehlivan, D., Ramocki, M.B., Fang, P., Alleva, B., Franco, L.M., Belmont, J.W., Hastings, P.J., and Lupski, J.R. (2013). Replicative mechanisms for CNV formation are error prone. Nat Genet 45, 1319-1326.

Carvalho, C.M., Ramocki, M.B., Pehlivan, D., Franco, L.M., Gonzaga-Jauregui, C., Fang, P., McCall, A., Pivnick, E.K., Hines-Dowell, S., Seaver, L.H., et al. (2011). Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet 43, 1074-1081.