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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1996 1
2002 1
2003 3
2004 3
2005 3
2006 5
2007 7
2008 5
2009 11
2010 3
2011 8
2012 10
2013 8
2014 13
2015 25
2016 21
2017 21
2018 14
2019 17
2020 17
2021 13
2022 13
2023 12
2024 10

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208 results

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Page 1
Closing the gap: Solving complex medically relevant genes at scale.
Mahmoud M, Harting J, Corbitt H, Chen X, Jhangiani SN, Doddapaneni H, Meng Q, Han T, Lambert C, Zhang S, Baybayan P, Henno G, Shen H, Hu J, Han Y, Riegler C, Metcalf G, Henno G, Chinn IK, Eberle MA, Kingan S, Farinholt T, Carvalho CMB, Gibbs RA, Kronenberg Z, Muzny D, Sedlazeck FJ. Mahmoud M, et al. Among authors: carvalho cmb. medRxiv [Preprint]. 2024 Mar 18:2024.03.14.24304179. doi: 10.1101/2024.03.14.24304179. medRxiv. 2024. PMID: 38562723 Free PMC article. Preprint.
Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32.
Lupski J, Dardas Z, Marafi D, Duan R, Fatih J, El-Rashidy O, Grochowski C, Carvalho C, Jhangiani S, Bi W, Du H, Gibbs R, Posey J, Calame D, Zaki M. Lupski J, et al. Among authors: carvalho c. Res Sq [Preprint]. 2024 Feb 19:rs.3.rs-3949622. doi: 10.21203/rs.3.rs-3949622/v1. Res Sq. 2024. PMID: 38464263 Free PMC article. Preprint.
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Bassani S, Chrast J, Ambrosini G, Voisin N, Schütz F, Brusco A, Sirchia F, Turban L, Schubert S, Jamra RA, Schlump JU, DeMille D, Bayrak-Toydemir P, Nelson GR, Wong KN, Duncan L, Mosera M, Gilissen C, Vissers LELM, Pfundt R, Kersseboom R, Yttervik H, Hansen GÅM, Falkenberg Smeland M, Butler KM, Lyons MJ, Carvalho CMB, Zhang C, Lupski JR, Potocki L, Flores-Gallegos L, Morales-Toquero R, Petit F, Yalcin B, Tuttle A, Elloumi HZ, Mccormick L, Kukolich M, Klaas O, Horvath J, Scala M, Iacomino M, Operto F, Zara F, Writzl K, Maver A, Haanpää MK, Pohjola P, Arikka H, Iseli C, Guex N, Reymond A. Bassani S, et al. Among authors: carvalho cmb. medRxiv [Preprint]. 2024 Jan 17:2024.01.14.24301100. doi: 10.1101/2024.01.14.24301100. medRxiv. 2024. PMID: 38293053 Free PMC article. Preprint.
Detection of mosaic and population-level structural variants with Sniffles2.
Smolka M, Paulin LF, Grochowski CM, Horner DW, Mahmoud M, Behera S, Kalef-Ezra E, Gandhi M, Hong K, Pehlivan D, Scholz SW, Carvalho CMB, Proukakis C, Sedlazeck FJ. Smolka M, et al. Among authors: carvalho cmb. Nat Biotechnol. 2024 Jan 2. doi: 10.1038/s41587-023-02024-y. Online ahead of print. Nat Biotechnol. 2024. PMID: 38168980
A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.
Costa SS, Fishman V, Pinheiro M, Rodrigueiro A, Sanseverino MT, Zielinsky P, Carvalho CMB, Rosenberg C, Krepischi ACV. Costa SS, et al. Among authors: carvalho cmb. Res Sq [Preprint]. 2023 Dec 13:rs.3.rs-3740005. doi: 10.21203/rs.3.rs-3740005/v1. Res Sq. 2023. PMID: 38168413 Free PMC article. Updated. Preprint.
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.
Du H, Dardas Z, Jolly A, Grochowski CM, Jhangiani SN, Li H, Muzny D, Fatih JM, Yesil G, Elçioglu NH, Gezdirici A, Marafi D, Pehlivan D, Calame DG, Carvalho CMB, Posey JE, Gambin T, Coban-Akdemir Z, Lupski JR. Du H, et al. Among authors: carvalho cmb. Nucleic Acids Res. 2024 Feb 28;52(4):e18. doi: 10.1093/nar/gkad1223. Nucleic Acids Res. 2024. PMID: 38153174 Free PMC article.
208 results