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Chromatin Conformation Capture in the Clinic: 4C-Seq/hic Distinguishes Pathogenic from Neutral Duplications at the GPR101 Locus

Adrian F. Daly, Leslie A. Dunnington,David F. Rodriguez-Buritica,Erica Spiegel,Francesco Brancati,Giovanna Mantovani, Vandana M. Rawal,Fabio Rueda Faucz,Hadia Hijazi,Jean-Hubert Caberg,Anna Maria Nardone,Mario Bengala,Paola Fortugno,Giulia Del Sindaco,Marta Ragonese, Helen Gould,Salvatore Cannavò,Patrick Pétrossians,Andrea Lania,James R. Lupski,Albert Beckers,Constantine A. Stratakis,Brynn Levy,Giampaolo Trivellin,Martin Franke

Genome Medicine（2024）

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Key words
GPR101,Topologically associating domains,Neo-TAD,X-linked acrogigantism,Pituitary tumor,Prenatal diagnosis,Chromosome microarray,4C,HiC,Enhancer
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