Results 101 to 110 of about 2,233 (173)

Multi-omics analysis in suspected hereditary breast and ovarian cancer cases reveals novel candidate susceptibility factors. [PDF]

NPJ Breast Cancer
Allister BA, Hofmann W, Lühmann JL, Sander B, Wendeburg L, Schmidt G, Auber B, Morlot S, Wallaschek H, di Donato N, Schlegelberger B, Golas MM, Steinemann D.   +12 more
europepmc   +1 more source

Complementarity of Long-Reads and Optical Mapping in Parkinson's Disease for Structural Variants. [PDF]

Ann Clin Transl Neurol
Fienemann A, Lüth T, Schaake S, Gabbert C, Möller M, Busch H, Lohmann K, Gustafson JA, Miller DE, Daida K, Funayama M, Hattori N, Sassi SB, Hentati F, Farrer MJ, Ullrich KK, Klein C, Trinh J.   +17 more
europepmc   +1 more source

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

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

[Application of optical genome mapping technology in the genetic diagnosis of a family with a cryptic complex chromosomal balanced translocations]. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban
Liu Y, Fan R, Ji T, Xu X, Hui L, Ma X.
europepmc   +1 more source

Inflammation driven by NF-ĸB compromises bone formation by inducing the differentiation of osteoblasts into atypical inflammatory osteocyte-like cells. [PDF]

Bone Res
Swarnkar G, Ahmad MF, Zeyad M, Tyagi AM, Naaz M, Mbalaviele G, Abu-Amer Y.   +6 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