Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance по Georgios Stamoulis, Marco Garieri, Periklis Makrythanasis, Audrey Letourneau, Michel Guipponi, Nikolaos Panousis, Frédérique Sloan-Béna, Emilie Falconnet, Pascale Ribaux, Christelle Borel, Federico Santoni, Stylianos E. Antonarakis

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Correction to: Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase по Karolina Luczkowska, Caroline Stekelenburg, Frédérique Sloan-Béna, Emmanuelle Ranza, Giacomo Gastaldi, Valérie Schwitzgebel, Pierre Maechler

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Parallel derivation of X-monosomy induced pluripotent stem cells (iPSCs) with isogenic control iPSCs по Anis Feki, Frédérique Sloan-Béna, Youssef Hibaoui

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Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase по Karolina Luczkowska, Caroline Stekelenburg, Frédérique Sloan-Béna, Emmanuelle Ranza, Giacomo Gastaldi, Valérie Schwitzgebel, Pierre Maechler

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Gestational trophoblastic disease in Switzerland: retrospective study of the impact of a regional reference centre по Aurore Fehlmann, Khadidja Benkortbi, Ginette Rosseel, Ulrike Meyer-Hamme, Jean-Christophe Tille, Frédérique Sloan-Béna, Ariane Paolini-Giacobino, Anne-Laure Rougemont, Alexandre Bodmer, Diomidis Botsikas, Patrice Mathevet, Patrick Petignat, Manuela Undurraga Malinverno

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Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease по Francesca Lantieri, Stefania Gimelli, Chiara Viaggi, Elissavet Stathaki, Michela Malacarne, Giuseppe Santamaria, Alice Grossi, Manuela Mosconi, Frédérique Sloan-Béna, Alessio Pini Prato, Domenico Coviello, Isabella Ceccherini

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Decreased neural precursor cell pool in NADPH oxidase 2-deficiency: From mouse brain to neural differentiation of patient derived iPSC по Zeynab Nayernia, Marilena Colaianna, Natalia Robledinos-Antón, Eveline Gutzwiller, Frédérique Sloan-Béna, Elisavet Stathaki, Yousef Hibaoui, Antonio Cuadrado, Jürgen Hescheler, Marie-José Stasia, Tomo Saric, Vincent Jaquet, Karl-Heinz Krause

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Generation of human induced pluripotent stem cell line UNIGEi001-A from a 2-years old patient with Mucopolysaccharidosis type IH disease по Silvin Lito, Patricie Burda, Matthias Baumgartner, Frédérique Sloan-Béna, Zsuzsanna Táncos, Julianna Kobolák, András Dinnyés, Karl-Heinz Krause, Antoine Marteyn

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Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations. по Elisa Tassano, Jens Buttgereit, Michael Bader, Margherita Lerone, Maria Teresa Divizia, Renata Bocciardi, Flavia Napoli, Giovanna Pala, Frédérique Sloan-Béna, Stefania Gimelli, Giorgio Gimelli

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A homozygous duplication of the <I>FGG</i> exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family по Michel Guipponi, Frédéric Masclaux, Frédérique Sloan-Béna, Corinne Di Sanza, Namik Özbek, Flora Peyvandi, Marzia Menegatti, Alessandro Casini, Baris Malbora, Marguerite Neerman-Arbez

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Generation of human induced pluripotent stem cell line UNIGEi003-A from skin fibroblasts of an apparently healthy male donor по Erika Cosset, Tieng Vannary, Frédérique Sloan-Béna, Stefania Gimelli, Eric Gerstel, Karl-Heinz Krause, Antoine Marteyn

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