5 documents found, page 1 of 1
A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings
Seabra, Catarina M.; Szoko, Nicholas; Erdin, Serkan; Ragavendran, Ashok; Stortchevoi, Alexei; Maciel, P.; Lundberg, Kathleen; Schlatzer, DanielaGenetic alterations of ARID1B have been recently recognized as one of the most common mendelian causes of intellectual disability and are associated with both syndromic and non-syndromic phenotypes. The ARID1B protein, a subunit of the chromatin remodeling complex SWI/SNF-A, is involved in the regulation of transcription and multiple downstream cellular processes. We report here the clinical, genetic, and prote...
The genomic landscape of balanced cytogenetic abnormalities associated with hum...
Redin, Claire; Brand, Harrison; Collins, Ryan L.; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C.; Hanscom, Carrie; Pillalamarri, VamseeDespite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexity that was cryptic to karyotyping in 21% of BCAs, highlighting t...
Array and NGS based characterization of translocation breakpoints of the t(2:7)...
Marques, Mariana; Talkowski, Michael E.; Freixo, João; Rui, Gonçalves; Morton, Cynthia C.; David, DezsőIntroduction: Congenital anomalies, namely caused by chromosome rearrangements, are a leading cause of infant mortality in European countries. The elucidation of the causal relationship between rearrangements and clinical phenotypes requires an efficient approach for identification of breakpoints at nucleotide resolution. Methods: In the last decade we went from conventional FISH based positional mapping of chr...
Next-Gen Cytogenetics and the Hidden Complexity of Genomic or Chromosomal Rearr...
David, Dezső; Freixo, João; Carvalho, Inês; Tkachenko, Natalia; Oliva Teles, Natália; Marques, Bárbara; Alves, Ana Cristina; Fortuna, Ana; Sofia, DóriaHuman developmental abnormalities are devastating conditions that account for almost half of all full-term neonatal deaths in developed countries. For individuals who survive, congenital anomalies often confer lifelong disability and their impact on public health is profound. However, the genetic etiology and genomic architecture contributing to the vast majority of these conditions remain unknown. Separately, ...
Exclusion of inv(2)(p16.1;q14.3) as the cause of a severe congenital disease by...
Pinto Cardoso, Manuela; Talkowski, Michael E.; Freixo, João; Gonçalves, Rui; Morton, Cynthia C.; David, Dezső<b>Introduction:</b> Congenital anomalies, a leading cause of infant mortality in developed countries, are usually caused by genomic and/or chromosome rearrangements. Such rearrangements, like inversions, disrupt the genomic architecture at the breakpoint regions and can be either subclinical or pathogenic. Currently, the lack of a fully annotated genome hinders the prediction of phenotypical consequences of th...