Publications

Complete list of published work includes 84 co-authored scientific publications.

*Co-first author

**Co-senior author

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 In Press.

Zhang, C., et al, and Carvalho, C.M.B. (2020). Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A In Press.

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.

Lin, M., Liu, Z., Liu, G., Zhao, S., Li, C., Chen, W., Coban Akdemir, Z., Lin, J., Song, X., Wang, S., et al. (2019). Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1. Mol Genet Genomic Med, e1023.

Eisfeldt, J., Pettersson, M., Vezzi, F., Wincent, J., Kaller, M., Gruselius, J., Nilsson, D., Syk Lundberg, E., Carvalho, C.M.B., and Lindstrand, A. (2019). Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements. PLoS Genet 15, e1007858.

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.

Bahrambeigi, V., Song, X., Sperle, K., Beck, C.R., Hijazi, H., Grochowski, C.M., Gu, S., Seeman, P., Woodward, K.J., Carvalho, C.M.B., et al. (2019). Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1copy number gain structural variants. Genome Med 11, 80.

White, J.J., Mazzeu, J.F., al., e., 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., Yuan, B., Tcw, J., Brennand, K.J., Sebat, J., Malhotra, D., McCarthy, S., Rudolph, U., Lindstrand, A., 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. (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.

Jehee, F.S., de Oliveira, V.T., Gurgel-Giannetti, J., Pietra, R.X., Rubatino, F.V.M., Carobin, N.V., Vianna, G.S., de Freitas, M.L., Fernandes, K.S., Ribeiro, B.S.V., et al. (2017). Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins. Am J Med Genet A 173, 2451-2455.

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

White, J.J., Mazzeu, J.F., Hoischen, A., Bayram, Y., Withers, M., Gezdirici, A., Kimonis, V., Steehouwer, M., Jhangiani, S.N., Muzny, D.M., et al. (2016). DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet 98, 553-561.

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. (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.

Beck, C.R., Carvalho, C.M., Banser, L., Gambin, T., Stubbolo, D., Yuan, B., Sperle, K., McCahan, S.M., Henneke, M., Seeman, P., et al. (2015). Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication. PLoS Genet 11, e1005050.

Lindstrand, A., Davis, E.E., Carvalho, C.M., Pehlivan, D., Willer, J.R., Tsai, I.C., Ramanathan, S., Zuppan, C., Sabo, A., Muzny, D., et al. (2014). Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet 94, 745-754.

Carvalho, C.M., Zuccherato, L.W., Williams, C.L., Neill, N.J., Murdock, D.R., Bainbridge, M., Jhangiani, S.N., Muzny, D.M., Gibbs, R.A., Ip, W., et al. (2014). Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Med Genet 15, 64.

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.

Dittwald, P., Gambin, T., Gonzaga-Jauregui, C., Carvalho, C.M., Lupski, J.R., Stankiewicz, P., and Gambin, A. (2013). Inverted low-copy repeats and genome instability–a genome-wide analysis. Hum Mutat 34, 210-220.

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., Bartnik, M., Pehlivan, D., Fang, P., Shen, J., and Lupski, J.R. (2012). Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22. Clin Genet 81, 532-541.

Liu, P., Carvalho, C.M., Hastings, P.J., and Lupski, J.R. (2012). Mechanisms for recurrent and complex human genomic rearrangements. Curr Opin Genet Dev 22, 211-220.

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.

Carvalho, C.M., Zhang, F., and Lupski, J.R. (2010). Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution. Proc Natl Acad Sci U S A 107 Suppl 1, 1765-1771.

Carvalho, C.M., Zhang, F., Liu, P., Patel, A., Sahoo, T., Bacino, C.A., Shaw, C., Peacock, S., Pursley, A., Tavyev, Y.J., et al. (2009). Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet 18, 2188-2203.

Carvalho, C.M., and Lupski, J.R. (2008). Copy number variation at the breakpoint region of isochromosome 17q. Genome Res 18, 1724-1732.

Lee, J.A., Carvalho, C.M., and Lupski, J.R. (2007). A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 131, 1235-1247.

PNRI is supported by

The SwedishTryskUSIPerkins CoieKnobbe MartensK L GatesLee & HayesAdaptive BiotechFirst PullSpecificaMatthew and Alayna Gagnier

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