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1.
TADeus2: a web server facilitating the clinical diagnosis by pathogenicity assessment of structural variations disarranging 3D chromatin structure.
Nucleic Acids Res
; 50(W1): W744-W752, 2022 07 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35524567
2.
Revised time estimation of the ancestral human chromosome 2 fusion.
BMC Genomics
; 23(Suppl 6): 616, 2022 Aug 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-36008753
3.
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders.
J Med Genet
; 56(2): 104-112, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30352868
4.
PhaseDancer: a novel targeted assembler of segmental duplications unravels the complexity of the human chromosome 2 fusion going from 48 to 46 chromosomes in hominin evolution.
Genome Biol
; 24(1): 205, 2023 09 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37697406
5.
Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype.
J Clin Med
; 9(5)2020 Apr 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-32344861
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