Results 61 to 70 of about 331 (102)

Genomic Complexity and Complex Chromosomal Rearrangements in Genetic Diagnosis: Two Illustrative Cases on Chromosome 7. [PDF]

Genes (Basel), 2023
Villa N, Redaelli S, Farina S, Conconi D, Sala EM, Crosti F, Mariani S, Colombo CM, Dalprà L, Lavitrano M, Bentivegna A, Roversi G.   +11 more
europepmc   +1 more source

Mechanistic origins of diverse genome rearrangements in cancer. [PDF]

Semin Cell Dev Biol, 2022
Dahiya R, Hu Q, Ly P.
europepmc   +1 more source

Unanswered questions when human karyotyping shows a supernumerary chromosome. [PDF]

Heredity (Edinb)
Liehr T, Fuchs S.
europepmc   +1 more source

Chromothripsis-Explosion in Genetic Science. [PDF]

Cells, 2021
Shorokhova M, Nikolsky N, Grinchuk T.
europepmc   +1 more source

Toward a model of repeat-driven chromosomal fragility in Triticeae: an integrated structural omics perspective. [PDF]

BMC Genomics
Kwiatek MT.
europepmc   +1 more source

Chromoanagenesis from radiation-induced genome damage in Populus. [PDF]

PLoS Genet, 2021
Guo W, Comai L, Henry IM.
europepmc   +1 more source

Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders. [PDF]

Hum Genet
Lederbogen RC, Hoffjan S, Köhler C, Thiels C, Mau-Holzmann UA, Singer S, Schreiber S, Purczeld A, Buchert R, Yusenko MV, Nguyen HHP, Gerding WM.   +11 more
europepmc   +1 more source

Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing. [PDF]

Genome Res
Eisfeldt J, Higginbotham EJ, Lenner F, Howe J, Fernandez BA, Lindstrand A, Scherer SW, Feuk L.   +7 more
europepmc   +1 more source

Mechanisms of structural chromosomal rearrangement formation. [PDF]

Mol Cytogenet, 2022
Burssed B, Zamariolli M, Bellucco FT, Melaragno MI.   +3 more
europepmc   +1 more source

Complex genomic rearrangements: an underestimated cause of rare diseases. [PDF]

Trends Genet, 2022
Schuy J, Grochowski CM, Carvalho CMB, Lindstrand A.   +3 more
europepmc   +1 more source