Chromothripsis: potential origin in gametogenesis and preimplantation cell divisions. A review von Pellestor, Franck, Ph.D, Gatinois, Vincent, Pharm.D, Puechberty, Jacques, M.D, Geneviève, David, M.D, Lefort, Geneviève, M.D

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The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients von Nguyen, Ngoc Minh Phuong, Khawajkie, Yassemine, Mechtouf, Nawel, Rezaei, Maryam, Breguet, Magali, Kurvinen, Elvira, Jagadeesh, Sujatha, Solmaz, Asli Ece, Aguinaga, Monica, Hemida, Reda, Harma, Mehmet Ibrahim, Rittore, Cécile, Rahimi, Kurosh, Arseneau, Jocelyne, Hovanes, Karine, Clisham, Ronald, Lenzi, Tiffanee, Scurry, Bonnie, Addor, Marie-Claude, Bagga, Rashmi, Nendaz, Genevieve Girardet, Finci, Vildana, Poke, Gemma, Grimes, Leslie, Gregersen, Nerine, York, Kayla, Bolze, Pierre-Adrien, Patel, Chirag, Mozdarani, Hossein, Puechberty, Jacques, Scotchie, Jessica, Fardaei, Majid, Harma, Muge, Gardner, R. J. McKinlay, Sahoo, Trilochan, Dudding-Byth, Tracy, Srinivasan, Radhika, Sauthier, Philippe, Slim, Rima

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Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player von Celse, Tristan, Cazin, Caroline, Mietton, Flore, Martinez, Guillaume, Martinez, Delphine, Thierry-Mieg, Nicolas, Septier, Amandine, Guillemain, Catherine, Beurois, Julie, Clergeau, Antoine, Mustapha, Selima Fourati Ben, Kharouf, Mahmoud, Zoghmar, Abdelali, Chargui, Ahmed, Papaxanthos, Aline, Dorphin, Béatrice, Foliguet, Bernard, Triki, Chema, Sifer, Christophe, Lauton, Dominique, Tachdjian, Gérard, Schuler, Gilles, Lejeune, Hervé, Puechberty, Jacques, Bessonnat, Julien, Pasquier, Laurent, Mery, Lionel, Poulain, Marine, Chaabouni, Myriam, Sermondade, Nathalie, Cabry, Rosalie, Benbouhadja, Sebti, Veau, Ségolène, Frapsauce, Cynthia, Mitchell, Valérie, Achard, Vincent, Satre, Veronique, Hennebicq, Sylviane, Zouari, Raoudha, Arnoult, Christophe, Kherraf, Zine-Eddine, Coutton, Charles, Ray, Pierre F.

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

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Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule von Cayrefourcq, Laure, Vincent, Marie-Claire, Pierredon, Sandra, Moutou, Céline, Imbert-Bouteille, Marion, Haquet, Emmanuelle, Puechberty, Jacques, Willems, Marjolaine, Liautard-Haag, Cathy, Molinari, Nicolas, Zordan, Cécile, Dorian, Virginie, Rooryck-Thambo, Caroline, Goizet, Cyril, Chaussenot, Annabelle, Rouzier, Cécile, Boureau-Wirth, Amandine, Monteil, Laetitia, Calvas, Patrick, Miry, Claire, Favre, Romain, Petrov, Yuliya, Khau Van Kien, Philippe, Le Boette, Elsa, Fradin, Mélanie, Alix-Panabières, Catherine, Guissart, Claire

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

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Molecular and evolutionary characteristics of the fraction of human alpha satellite DNA associated with CENP-A at the centromeres of chromosomes 1, 5, 19, and 21 von Pironon, Nathalie, Puechberty, Jacques, Roizès, Gérard

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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 von Vaché, Christel, Puechberty, Jacques, Faugère, Valérie, Darmaisin, Floriane, Liquori, Alessandro, Baux, David, Blanchet, Catherine, Garcia-Garcia, Gema, Meunier, Isabelle, Pellestor, Franck, Koenig, Michel, Roux, Anne-Françoise

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Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes von Doco-Fenzy, Martine, Leroy, Camille, Schneider, Anouck, Petit, Florence, Delrue, Marie-Ange, Andrieux, Joris, Perrin-Sabourin, Laurence, Landais, Emilie, Aboura, Azzedine, Puechberty, Jacques, Girard, Manon, Tournaire, Magali, Sanchez, Elodie, Rooryck, Caroline, Ameil, Agnès, Goossens, Michel, Jonveaux, Philippe, Lefort, Geneviève, Taine, Laurence, Cailley, Dorothée, Gaillard, Dominique, Leheup, Bruno, Sarda, Pierre, Geneviève, David

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Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability von Tran Mau-Them, Frederic, Willems, Marjolaine, Albrecht, Beate, Sanchez, Elodie, Puechberty, Jacques, Endele, Sabine, Schneider, Anouck, Ruiz Pallares, Nathalie, Missirian, Chantal, Rivier, Francois, Girard, Manon, Holder, Muriel, Manouvrier, Sylvie, Touitou, Isabelle, Lefort, Genevieve, Sarda, Pierre, Moncla, Anne, Drunat, Severine, Wieczorek, Dagmar, Genevieve, David

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Meiotic segregation of complex reciprocal translocations: direct analysis of the spermatozoa of a t(5;13;14) carrier von Pellestor, Franck, Ph.D, Puechberty, Jacques, M.D, Weise, Anja, Ph.D, Lefort, Geneviève, M.D, Anahory, Tal, M.D, Liehr, Thomas, M.D, Sarda, Pierre, M.D

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Whole-genome analysis of a putative rare and complex interchromosomal reciprocal insertion: thorough investigations for a straightforward interpretation von Zenagui, Reda, Bernicot, Izabel, Ranisavljevic, Noémie, Ferrieres-Hoa, Alice, Puechberty, Jacques, Anahory, Tal

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

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

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Looking for Broken TAD Boundaries and Changes on DNA Interactions: Clinical Guide to 3D Chromatin Change Analysis in Complex Chromosomal Rearrangements and Chromothripsis von Yauy, Kevin, Gatinois, Vincent, Guignard, Thomas, Sati, Satish, Puechberty, Jacques, Gaillard, Jean Baptiste, Schneider, Anouck, Pellestor, Franck

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Compared genomics of the strand switch region of Leishmania chromosome 1 reveal a novel genus-specific gene and conserved structural features and sequence motifs von Puechberty, Jacques, Blaineau, Christine, Meghamla, Sabrina, Crobu, Lucien, Pagès, Michel, Bastien, Patrick

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Reply to Van Opstal D. & Faas B.H.W von Sabbagh, Quentin, Larrieux, Marion, Schneider, Anouck, Theze, Corinne, Vincent, Marie-Claire, Coubes, Christine, Puechberty, Jacques, Renard, Sarah, Koenig, Michel, Pellestor, Franck, Cossée, Mireille, Gatinois, Vincent

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Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report von Sabbagh, Quentin, Larrieux, Marion, Schneider, Anouck, Theze, Corinne, Vincent, Marie-Claire, Coubes, Christine, Puechberty, Jacques, Renard, Sarah, Koenig, Michel, Pellestor, Franck, Cossée, Mireille, Gatinois, Vincent

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Remaniements chromosomiques complexes en 8p23.1 : du séquençage short-reads pour un short-arm von Ganne, Benjamin, Puechberty, Jacques, Geneviève, David, Schneider, Anouck, Chatron, Nicolas, Pellestor, Franck, Gatinois, Vincent

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A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders von Zufferey, Flore, Sherr, Elliott H, Beckmann, Noam D, Hanson, Ellen, Maillard, Anne M, Hippolyte, Loyse, Macé, Aurélien, Ferrari, Carina, Kutalik, Zoltán, Andrieux, Joris, Aylward, Elizabeth, Barker, Mandy, Bernier, Raphael, Bouquillon, Sonia, Conus, Philippe, Delobel, Bruno, Faucett, W Andrew, Goin-Kochel, Robin P, Grant, Ellen, Harewood, Louise, Hunter, Jill V, Lebon, Sébastien, Ledbetter, David H, Martin, Christa Lese, Männik, Katrin, Martinet, Danielle, Mukherjee, Pratik, Ramocki, Melissa B, Spence, Sarah J, Steinman, Kyle J, Tjernagel, Jennifer, Spiro, John E, Reymond, Alexandre, Beckmann, Jacques S, Chung, Wendy K, Jacquemont, Sébastien

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