Results 41 to 50 of about 331 (102)

The Iceberg under Water:Unexplored Complexity of Chromoanagenesis in Congenital Disorders [PDF]

, 2019
Structural variation, composed of balanced and unbalanced genomic rearrangements, is an important contributor to human genetic diversity with prominent roles in somatic and congenital disease.
Zepeda-Mendoza, Cinthya J., Morton, Cynthia C.; id_orcid   +1 more
core   +1 more source

Complex Genomic Rearrangement Patterns in Malignant Pleural Mesothelioma due to Environmental Asbestos Exposure

, 2023
Malignant pleural mesothelioma (MPM) is a rare type of cancer, and its main risk factor is exposure to asbestos. Accordingly, our knowledge of the genomic structure of an MPM tumor is limited when compared to other cancers.
Güntülü Ak, Hasan Veysi Güneş, DEĞİRMENCİ, İRFAN, AK, GÜNTÜLÜ, Tunç Tuncel, Tuncel, Tunç, Muzaffer Metintaş, METİNTAŞ, MUZAFFER   +7 more
core   +1 more source

Nonrecurrent Triplication of 5q21.3q23.3: A Case Report and Review of the Literature

American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.
ABSTRACT Triplications involving 5q21.3q23.3 are rare, and a phenotype has not been established. Here, we present a 4‐month‐old male with dysmorphic facial features and congenital cardiac malformation. Chromosomal microarray identified a pathogenic triplication of 5q21.3q23.3 with chromosome analysis showing the extra 5q material inserted into 16q ...
Jacob A. Ginter, Sarah Beaudry, Natalya Guseva, Jaime Nagy, Aaron A. Stence, Alpa Sidhu   +5 more
wiley   +1 more source

A framework for the clinical implementation of optical genome mapping in hematologic malignancies

American Journal of Hematology, Volume 99, Issue 4, Page 642-661, April 2024.
Abstract Optical Genome Mapping (OGM) is rapidly emerging as an exciting cytogenomic technology both for research and clinical purposes. In the last 2 years alone, multiple studies have demonstrated that OGM not only matches the diagnostic scope of conventional standard of care cytogenomic clinical testing but it also adds significant new information ...
Brynn Levy, Rashmi Kanagal‐Shamanna, Nikhil S. Sahajpal, Kornelia Neveling, Katrina Rack, Barbara Dewaele, Daniel Olde Weghuis, Marian Stevens‐Kroef, Anna Puiggros, Mar Mallo, Benjamin Clifford, Tuomo Mantere, Alexander Hoischen, Blanca Espinet, Ravindra Kolhe, Francesc Solé, Gordana Raca, Adam C. Smith   +17 more
wiley   +1 more source

Proposed mechanisms in individual Cplex11 with chromothripsis-like, chromoanasynthesis insertions.

, 2016
(A) CMA and high-density aCGH results of Cplex11. (B) Chromosome idiograms of individual Cplex11 demonstrating two duplications (segments “a” and “b” highlighted in red and cyan) and a deletion (segment highlighted in green) on chr13, plus a duplication (
Mitchell L. Cooper (3361427), Przemyslaw Szafranski (549878), Zeynep Coban Akdemir (3361424), Ankita Patel (163987), Rodger H. Song (3361418), Shen Gu (503795), Seema R. Lalani (463360), Janice L. Smith (463363), Maria A. Magriñá (3361421), Carlos A. Bacino (273553), Bo Yuan (26238), Claudia M. B. Carvalho (389820), James R. Lupski (6678), Paweł Stankiewicz (463364), Amy M. Breman (463362), Weimin Bi (162353), Sau Wai Cheung (163977)   +16 more
core   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +2 more sources

Proposed mechanisms in individuals Cplex5 and Cplex6 with chromothripsis-like, chromoanasynthesis insertions.

, 2016
(A) CMA and high-density aCGH results of Cplex5. (B) Chromosome idiograms of individual Cplex5 demonstrating a duplication (segment highlighted in magenta) and two deletions (segments highlighted in green and blue, respectively) on chr6, plus a ...
Mitchell L. Cooper (3361427), Przemyslaw Szafranski (549878), Zeynep Coban Akdemir (3361424), Ankita Patel (163987), Rodger H. Song (3361418), Shen Gu (503795), Seema R. Lalani (463360), Janice L. Smith (463363), Maria A. Magriñá (3361421), Carlos A. Bacino (273553), Bo Yuan (26238), Claudia M. B. Carvalho (389820), James R. Lupski (6678), Paweł Stankiewicz (463364), Amy M. Breman (463362), Weimin Bi (162353), Sau Wai Cheung (163977)   +16 more
core   +1 more source

C. elegans whole genome sequencing reveals mutational signatures related to carcinogens and DNA repair deficiency. [PDF]

, 2014
Mutation is associated with developmental and hereditary disorders, aging and cancer. While we understand some mutational processes operative in human disease, most remain mysterious.
Maddison, Mark, Cooke, Susanna L., Bailly, Aymeric P., Meier, Bettina, Alexandrov, Ludmil B., Raine, Keiran, Campbell, Peter J., Cooke, Susanna L, Weiss, Joerg, Anderson, Elizabeth, Gartner, Anton, Marshall, John, Stratton, Michael R.   +12 more
core   +1 more source

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome [PDF]

, 2017
Background: Structural variation (SV) influences genome organization and contributes to human disease. However, the complete mutational spectrum of SV has not been routinely captured in disease association studies.
Giorgia Mandrile, Caroline Antolik, Claire E. Redin, Stortchevoi, Alexei, Diane Lucente, Ragavendran, Ashok, Maura Costello, Stephan J. Sanders, Catarina M. Seabra, Dorrani, Naghmeh, An, Joon-Yong, Martinez-Agosto, Julian A., Sanders, Stephan J., Mandrile, Giorgia, Tamara Mason, Glessner, Joseph, Levy, Brynn, Quintero-Rivera, Fabiola, Sanders, Jan-Stephan, Fabiola Quintero-Rivera, Perrin, Danielle, Collins, Ryan, Naghmeh Dorrani, Carrie Hanscom, Harrison Brand, Mason, Tamara, Brynn Levy, Michelle Cipicchio, Currall, Benjamin B., Lucente, Diane, Wigard Kloosterman, Walsh, Cole, Julian A. Martinez-Agosto, Michael E. Talkowski, Kloosterman, Wigard, Costello, Maura, Stone, Matthew R., Giachino, Daniela, Ryan L. Collins, Giulia Pregno, Hanscom, Carrie, Danielle Perrin, Glessner, Joseph T., Benjamin B. Currall, Brand, Harrison, Alexei Stortchevoi, An, Joon Yong, Joon-Yong An, Talkowski, Michael, Seabra, Catarina M., Matthew R. Stone, Giachino, Daniela Francesca, Cipicchio, Michelle, Wapner, Ronald J., Antolik, Caroline, Currall, Benjamin B, Stone, Matthew R, Talkowski, Michael E., Daniela Giachino, Ashok Ragavendran, Lauren Margolin, Seabra, Catarina M, Ronald J. Wapner, Redin, Claire, Pregno, Giulia, Joseph T. Glessner, Cole Walsh, Redin, Claire E., Margolin, Lauren, Collins, Ryan L   +69 more
core   +2 more sources

Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performance

Chromoanagenesis events consist of complex chromosome rearrangements with multiple breakpoints in one or few chromosomes. Mechanisms of chromoanagenesis are split into three major groups: chromothripsis, chromoanasynthesis and chromoplexy.
Zucca S, Baldan F., Demori E., Morgan A., Girotto G., Mio C., Damante G., De Paoli F, Limongelli I, Passon N., Passon N, De Paoli F., Damante G, Faletra F., Zucca S., Demori E, Girotto G, Morgan A, Baldan F, Gnan C., Gnan C, Limongelli I., Mio C, Allegri L., Allegri L   +24 more
core   +1 more source