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Claudia MB Carvalho
Claudia MB Carvalho
Pacific Northwest Research Institute; University of Washington; Baylor College of Medicine
Verified email at pnri.org - Homepage
Title
Cited by
Cited by
Year
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
JA Lee, CMB Carvalho, JR Lupski
cell 131 (7), 1235-1247, 2007
10592007
Mechanisms underlying structural variant formation in genomic disorders
CMB Carvalho, JR Lupski
Nature Reviews Genetics 17 (4), 224-238, 2016
6642016
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
4362007
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
3742012
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
3722003
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
3302009
Complex human chromosomal and genomic rearrangements
F Zhang, CMB Carvalho, JR Lupski
Trends in Genetics 25 (7), 298-307, 2009
2982009
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
2192009
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
2082011
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
1852019
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
1732013
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
1712018
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
1462013
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
1442018
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
1392016
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
1372015
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
1152017
Altered neuronal network and rescue in a human MECP2 duplication model
S Nageshappa, C Carromeu, CA Trujillo, P Mesci, I Espuny-Camacho, ...
Molecular psychiatry 21 (2), 178-188, 2016
1152016
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
1112018
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
1072019
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