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TITLE: Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases
AUTHORS: Uira Souto Melo; Robert Schoepflin; Rocio Acuna Hidalgo; Martin Atta Mensah; Bjoern Fischer Zirnsak; Manuel Holtgrewe; Marius Konstantin Klever; Seval Tuerkmen; Verena Heinrich; Ilina Datkhaeva Pluym; Eunice Matoso; Sergio Bernardo de Sousa; Pedro Louro ; Wiebke Huelsemann; Monika Cohen; Andreas Dufke; Anna Latos Bielenska; Martin Vingron; Vera Kalscheuer; Fabiola Quintero Rivera; Malte Spielmann; Stefan Mundlos; ...More
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 106, ISSUE: 6
INDEXED IN: Scopus WOS
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TITLE: Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome
AUTHORS: Ryan L Collins; Harrison Brand; Claire E Redin; Carrie Hanscom; Caroline Antolik; Matthew R Stone; Joseph T Glessner; Tamara Mason; Giulia Pregno; Naghmeh Dorrani; Giorgia Mandrile; Daniela Giachino; Danielle Perrin; Cole Walsh; Michelle Cipicchio; Maura Costello; Alexei Stortchevoi; Joon Yong An; Benjamin B Currall; Catarina M Seabra; Ashok Ragavendran; Lauren Margolin; Julian A Martinez Agosto; Diane Lucente; Brynn Levy; Stephan J Sanders; Ronald J Wapner; Fabiola Quintero Rivera; Wigard Kloosterman; Michael E Talkowski; ...More
PUBLISHED: 2017, SOURCE: GENOME BIOLOGY, VOLUME: 18, ISSUE: 1
INDEXED IN: Scopus WOS