| A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders JA Lee, CMB Carvalho, JR Lupski cell 131 (7), 1235-1247, 2007 | 1088 | 2007 |
| Mechanisms underlying structural variant formation in genomic disorders CMB Carvalho, JR Lupski Nature Reviews Genetics 17 (4), 224-238, 2016 | 755 | 2016 |
| Characterization of Potocki-Lupski syndrome (dup (17)(p11. 2p11. 2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype L Potocki, W Bi, D Treadwell-Deering, CMB Carvalho, A Eifert, ... The American Journal of Human Genetics 80 (4), 633-649, 2007 | 455 | 2007 |
| Mechanisms for recurrent and complex human genomic rearrangements P Liu, CMB Carvalho, PJ Hastings, JR Lupski Current opinion in genetics & development 22 (3), 211-220, 2012 | 395 | 2012 |
| The complete genome sequence of Chromobacterium violaceum reveals remarkable and exploitable bacterial adaptability ATR de Vasconcelos, DF De Almeida, M Hungria, CT Guimaraes, ... Proceedings of the national academy of sciences of the United States of …, 2003 | 376 | 2003 |
| Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome MB Ramocki, SU Peters, YJ Tavyev, F Zhang, CMB Carvalho, CP Schaaf, ... Annals of Neurology: Official Journal of the American Neurological …, 2009 | 342 | 2009 |
| Complex human chromosomal and genomic rearrangements F Zhang, CMB Carvalho, JR Lupski Trends in Genetics 25 (7), 298-307, 2009 | 310 | 2009 |
| Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching CMB Carvalho, F Zhang, P Liu, A Patel, T Sahoo, CA Bacino, C Shaw, ... Human molecular genetics 18 (12), 2188-2203, 2009 | 228 | 2009 |
| Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome CMB Carvalho, MB Ramocki, D Pehlivan, LM Franco, ... Nature genetics 43 (11), 1074-1081, 2011 | 223 | 2011 |
| Insights into genetics, human biology and disease gleaned from family based genomic studies JE Posey, AH O’Donnell-Luria, JX Chong, T Harel, SN Jhangiani, ... Genetics in Medicine 21 (4), 798-812, 2019 | 198 | 2019 |
| Identifying genes whose mutant transcripts cause dominant disease traits by potential gain-of-function alleles Z Coban-Akdemir, JJ White, X Song, SN Jhangiani, JM Fatih, T Gambin, ... The American Journal of Human Genetics 103 (2), 171-187, 2018 | 195 | 2018 |
| ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry R Hjeij, A Lindstrand, R Francis, MA Zariwala, X Liu, Y Li, R Damerla, ... The American Journal of Human Genetics 93 (2), 357-367, 2013 | 177 | 2013 |
| Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome MC Poli, F Ebstein, SK Nicholas, MM de Guzman, LR Forbes, IK Chinn, ... The American Journal of Human Genetics, 2018 | 162 | 2018 |
| Replicative mechanisms for CNV formation are error prone CMB Carvalho, D Pehlivan, MB Ramocki, P Fang, B Alleva, LM Franco, ... Nature genetics 45 (11), 1319-1326, 2013 | 160 | 2013 |
| DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome J White, JF Mazzeu, A Hoischen, SN Jhangiani, T Gambin, MC Alcino, ... The American Journal of Human Genetics 96 (4), 612-622, 2015 | 150 | 2015 |
| Copy-number variation contributes to the mutational load of Bardet-Biedl syndrome A Lindstrand, S Frangakis, CMB Carvalho, EB Richardson, KA McFadden, ... The American Journal of Human Genetics 99 (2), 318-336, 2016 | 142 | 2016 |
| From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying … A Lindstrand, J Eisfeldt, M Pettersson, CMB Carvalho, M Kvarnung, ... Genome medicine 11, 1-23, 2019 | 131 | 2019 |
| WNT signaling perturbations underlie the genetic heterogeneity of Robinow syndrome JJ White, JF Mazzeu, Z Coban-Akdemir, Y Bayram, V Bahrambeigi, ... The American Journal of Human Genetics 102 (1), 27-43, 2018 | 130 | 2018 |
| Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort T Gambin, ZC Akdemir, B Yuan, S Gu, T Chiang, C Carvalho, C Shaw, ... Nucleic acids research 45 (4), 1633-1648, 2017 | 127 | 2017 |
| Detection of mosaic and population-level structural variants with Sniffles2 M Smolka, LF Paulin, CM Grochowski, DW Horner, M Mahmoud, ... Nature biotechnology, 1-10, 2024 | 125 | 2024 |