Claudia M.B. Carvalho

A DNA Replication Mechanism for Generating Nonrecurrent Rearrangements Associated with Genomic Disorders

Jennifer A. Lee, Claudia M.B. Carvalho, James R. Lupski · Cell · 2007 · 902 citations · Full text

Genome Instability, Nonrecurrent Rearrangements, Genomic Disorders +10

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 et al. · The American Journal of Human Genetics · 2007 · 425 citations

Neurodevelopmental Disorders, Autism Phenotype, Potocki-lupski Syndrome +11

Detection of mosaic and population-level structural variants with Sniffles2

Moritz Smolka, Luis F. Paulin, Christopher M. Grochowski et al. · Nature Biotechnology · 2024 · 377 citations · Full text

Autism and other neuropsychiatric symptoms are prevalent in individuals with <i>MeCP2</i> duplication syndrome

Melissa B. Ramocki, Sarika U. Peters, Y. Jane Tavyev et al. · Annals of Neurology · 2009 · 298 citations · Full text

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

Zeynep Coban‐Akdemir, Janson J. White, Xiaofei Song et al. · The American Journal of Human Genetics · 2018 · 228 citations · Full text

Genetic Analysis, Allelic Variant, Systems Biology +7