Publications
Export 40 results:
Author [ Title] Year Filters: Author is Carvalho, Claudia M B [Clear All Filters]
Absence of heterozygosity due to template switching during replicative rearrangements. Am J Hum Genet 96, 555-64 (2015).
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet 24, 4061-77 (2015).
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet 93, 357-67 (2013).
Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form. Am J Med Genet A 182, 2632-2640 (2020).
Chimeric transcripts resulting from complex duplications in chromosome Xq28. Hum Genet 135, 253-6 (2016).
Clinical genomics and contextualizing genome variation in the diagnostic laboratory. Expert Rev Mol Diagn 20, 995-1002 (2020).
Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication. PLoS Genet 11, e1005050 (2015).
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet 99, 318-36 (2016).
Craniofacial phenotypes associated with Robinow syndrome. Am J Med Genet A (2020). doi:10.1002/ajmg.a.61986
Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants. Genome Med 11, 80 (2019).
Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. Am J Hum Genet 95, 565-78 (2014).
Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins. Am J Med Genet A 173, 2451-2455 (2017).
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet 96, 612-22 (2015).
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet 98, 553-561 (2016).
Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders. Hum Mol Genet 26, 1927-1941 (2017).
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med 16, 386-394 (2014).
Extremity anomalies associated with Robinow syndrome. Am J Med Genet A (2020). doi:10.1002/ajmg.a.61884
Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1. Mol Genet Genomic Med 8, e1023 (2020).
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet 102, 1126-1142 (2018).
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res 45, 1633-1648 (2017).
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. Am J Hum Genet 103, 171-187 (2018).
Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med 21, 798-812 (2019).
Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes. Hum Mutat 39, 939-946 (2018).
Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation. Hum Mutat 37, 160-4 (2016).
Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet 17, 224-38 (2016).
Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell 176, 1310-1324.e10 (2019).
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet 97, 691-707 (2015).
Novel parent-of-origin-specific differentially methylated loci on chromosome 16. Clin Epigenetics 11, 60 (2019).
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A (2020). doi:10.1002/ajmg.a.61908
An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell 168, 830-842.e7 (2017).
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. Am J Hum Genet 101, 149-156 (2017).
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med 18, 443-51 (2016).
Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Med Genet 15, 64 (2014).
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation. Hum Mutat 38, 180-192 (2017).
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet 102, 27-43 (2018).
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Hum Mutat 41, 150-168 (2020).
Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus. J Endocr Soc 2, 1100-1108 (2018).