Claudia M.B. Carvalho

GREGoR: accelerating genomics for rare diseases

Detection of mosaic and population-level structural variants with Sniffles2

Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression

Modeling antisense oligonucleotide therapy in <i>MECP2</i> duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels

Complex genomic rearrangements: an underestimated cause of rare diseases

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome

Insights into genetics, human biology and disease gleaned from family based genomic studies

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2

Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

Inside Back Cover, Volume 41, Issue 1

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

Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

An Organismal CNV Mutator Phenotype Restricted to Early Human Development

Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis

Mechanisms underlying structural variant formation in genomic disorders

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation

DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3

Altered neuronal network and rescue in a human MECP2 duplication model

Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells

ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry