Characterizing PALB2 intragenic duplication breakpoints in a triple-negative breast cancer case using long-read sequencing by Iulian O. Ban, Alice Chabert, Thomas Guignard, Thomas Guignard, Jacques Puechberty, Jacques Puechberty, Simon Cabello-Aguilar, Simon Cabello-Aguilar, Pascal Pujol, Julie A. Vendrell, Jérôme Solassol, Jérôme Solassol

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A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1 by Christel Vaché, Jacques Puechberty, Valérie Faugère, Floriane Darmaisin, Alessandro Liquori, David Baux, Catherine Blanchet, Catherine Blanchet, Gema Garcia-Garcia, Isabelle Meunier, Franck Pellestor, Michel Koenig, Anne-Françoise Roux

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Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report by Kevin Yauy, Anouck Schneider, Bee Ling Ng, Jean-Baptiste Gaillard, Satish Sati, Christine Coubes, Constance Wells, Magali Tournaire, Thomas Guignard, Pauline Bouret, David Geneviève, Jacques Puechberty, Franck Pellestor, Vincent Gatinois

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A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia by Nejla Erkilic, Vincent Gatinois, Simona Torriano, Pauline Bouret, Carla Sanjurjo-Soriano, Valerie De Luca, Krishna Damodar, Nicolas Cereso, Jacques Puechberty, Rocio Sanchez-Alcudia, Christian P. Hamel, Carmen Ayuso, Isabelle Meunier, Franck Pellestor, Vasiliki Kalatzis

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Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations by Vincent Gatinois, Nicole Bigi, Eve Mousty, Jean Chiesa, Yuri Musizzano, Anouck Schneider, Geneviève Lefort, Lucile Pinson, Jean‐Baptiste Gaillard, Clémence Ragon, Marie‐Josée Perez, Magali Tournaire, Patricia Blanchet, Carole Corsini, Emmanuelle Haquet, Patrick Callier, David Geneviève, Franck Pellestor, Jacques Puechberty

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