Claudia M.B. Carvalho

Author

Also Known As

Aashish Adhikari, Ann Nordgren, C Carvalho, C M B Carvalho, C. Carvalho, C. M. B. Carvalho, C. M. Carvalho, C.M. Carvalho, C.M.B. Carvalho, Carvalho, Claudia

147

Publications

8.6K

Citations

H-Index

100

Concepts

All Affiliations

Baylor College of Medicine Texas Children's Hospital Baylor Genetics Fundação Oswaldo Cruz Karolinska Institutet

About

Claudia M.B. Carvalho is an author at Baylor College of Medicine specializing in medicine, genetics, and molecular biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	32	44	4.2K
2	Natural Sciences	8	8	1.5K
3	Social Sciences	6	6	731
4	Public Health	2	2	192
5	Engineering	1	1	26

Claudia M.B. Carvalho

Publications

6.4K

Citations

H-Index

Page 1

	Year	Citations
A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders Jennifer A. Lee, Claudia M.B. Carvalho, James R. Lupski Cell Genome InstabilityNonrecurrent RearrangementsGenomic DisordersGeneticsNatural Sciences	2007	902
Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype Lorraine Potocki, Weimin Bi, Diane Treadwell‐Deering, The American Journal of Human Genetics Neurodevelopmental DisordersAutism PhenotypePotocki-lupski SyndromePsychiatrySyndromic Autism	2007	425
Detection of mosaic and population-level structural variants with Sniffles2 Moritz Smolka, Luis F. Paulin, Christopher M. Grochowski, Nature Biotechnology	2024	377
Autism and other neuropsychiatric symptoms are prevalent in individuals with <i>MeCP2</i> duplication syndrome Melissa B. Ramocki, Sarika U. Peters, Y. Jane Tavyev, Annals of Neurology	2009	298
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles Zeynep Coban‐Akdemir, Janson J. White, Xiaofei Song, The American Journal of Human Genetics Genetic AnalysisAllelic VariantSystems BiologyGeneticsGene Characterization	2018	228
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome Claudia M.B. Carvalho, Melissa B. Ramocki, Davut Pehli̇van, Nature Genetics Natural SciencesGeneticsGenome StructureDna ReplicationMolecular Biology	2011	224
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching Claudia M.B. Carvalho, Feng Zhang, Pengfei Liu, Human Molecular Genetics	2009	196
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome M. Cecilia Poli, Frédéric Ebstein, Sarah K. Nicholas, The American Journal of Human Genetics ImmunogeneticsGenetic DisorderGeneticsPathogenesisImmunology	2018	163
ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Rim Hjeij, Anna Lindstrand, Richard Francis, The American Journal of Human Genetics	2013	160
Replicative mechanisms for CNV formation are error prone Claudia M.B. Carvalho, Davut Pehli̇van, Melissa B. Ramocki, Nature Genetics Biophysical ModelingViral ReplicationNatural SciencesMolecular BiologyDna Replication	2013	148

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