Results 81 to 90 of about 2,137 (173)

Optical genome mapping detects cryptic high-risk and targetable abnormalities in adult AML. [PDF]

Br J Haematol
Bidet A, Laharanne E, Dos Santos M, De Grande AC, Leguay T, Pigneux A, Frison E, Achard S, Dupont-Moufakkir S, Klein E, Dumas PY.   +10 more
europepmc   +1 more source

Detection of structural DNA variants in medulloblastomas using optical genome mapping. [PDF]

Acta Neuropathol Commun
Kubon N, Bălan M, Koppstein D, Praeger S, Wolter M, Ebert P, Pauck D, Felsberg J, Beez T, Picard D, Remke M, Reifenberger G.   +11 more
europepmc   +1 more source

OGM

, 2023
openaire   +1 more source

Small Copy Number Neutral Intrachromosomal Translocation of PAX6 and Aniridia.

JAMA Ophthalmol
Reis LM, Tomei J, Gallagher R, Matter A, Carroll J, Broeckel U, Semina EV.   +6 more
europepmc   +1 more source

Optical Genome Mapping Enhances Structural Variant Detection and Refines Risk Stratification in Chronic Lymphocytic Leukemia. [PDF]

Genes (Basel)
Chakraborty SR, Bickford MA, Smuliac NA, Tonseth KA, Bao J, Murad F, Domínguez Vigil IG, Steinmetz HB, Wainman LM, Shah P, Bengtson EM, PonnamReddy S, Harmon GA, Donnelly LL, Tafe LJ, Karrs JX, Kaur P, Khan WA.   +17 more
europepmc   +1 more source

Indeterminate cell histiocytosis with ETV3::NCOA2 fusion detected by optical genome mapping. [PDF]

An Bras Dermatol
Mansilla-Polo M, Andreu-Lapiedra R, Valle IL, Such-Taboada E, Évole-Buselli M.   +4 more
europepmc   +1 more source

Xq28 duplication not F8 inversion: integrated genetic reanalysis redefines prenatal carrier diagnosis. [PDF]

Sci Rep
Yang X, Maimaiti S, Qi Q, Zhou X, Hao N, Chang J, Li M, Yin K, Lü Y, Jiang Y.   +9 more
europepmc   +1 more source

Proband Nanopore Long-Read Genome Sequencing Facilitates Preimplantation Genetic Testing for Facioscapulohumeral Muscular Dystrophy. [PDF]

Neurol Genet
Xu Y, Wang J, Chen Y, Zeng Y, Wang Q, Fan H, Feng S, Huang X, Luo X, Pan J, Wang J, Guo J, Li R, Lu B, Zhou C, Fei J, Xu Y.   +16 more
europepmc   +1 more source

Cytogenetics in the genomics era: why karyotyping still matters. [PDF]

BMC Med Genomics
Chebly A.
europepmc   +1 more source

The entire <i>CYP51B</i> locus in azole-resistant isolates of the dermatophyte <i>Trichophyton indotineae</i> revealed by optical genome mapping. [PDF]

Antimicrob Agents Chemother
Yamada T, Maeda M, Nakagawa M, Yaguchi T, Ishii M, Salamin K, Pich-Bavastro C, Monod M.   +7 more
europepmc   +1 more source