Three patients presenting with severe macrosomia and congenital hypertrophic cardiomyopathy: a case series

by Vincent, Marie, Benbrik, Nadir, Romefort, Bénédicte, Colombel, Agnès, Bézieau, Stéphane, Isidor, Bertrand
Published in J Med Case Rep (2017)

Population genetic screening: current issues in a European country

by Pasquier, Laurent, Isidor, Bertrand, Rial-Sebbag, Emmanuelle, Odent, Sylvie, Minguet, Guy, Moutel, Grégoire
Published in Eur J Hum Genet (2019)

Expanding the Spectrum of PMM2-CDG Phenotype

by Vuillaumier-Barrot, Sandrine, Isidor, Bertrand, Dupré, Thierry, Le Bizec, Christiane, David, Albert, Seta, Nathalie
Published 2011

Ribosomopathies: New Therapeutic Perspectives

by Orgebin, Emilien, Lamoureux, François, Isidor, Bertrand, Charrier, Céline, Ory, Benjamin, Lézot, Frédéric, Baud’huin, Marc
Published in Cells (2020)

Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability

by Lovrecic, Luca, Gnan, Chiara, Baldan, Federica, Franzoni, Alessandra, Bertok, Sara, Damante, Giuseppe, Isidor, Bertrand, Peterlin, Borut
Published in Mol Cytogenet (2018)

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

by Vergult, Sarah, Dheedene, Annelies, Meurs, Alfred, Faes, Fran, Isidor, Bertrand, Janssens, Sandra, Gautier, Agnès, Le Caignec, Cédric, Menten, Björn
Published in Eur J Hum Genet (2015)

Duplications at 19q13.33 in patients with neurodevelopmental disorders

by Pérez-Palma, Eduardo, Saarentaus, Elmo, Ravoet, Marie, De Ferrari, Giancarlo V., Nürnberg, Peter, Isidor, Bertrand, Neubauer, Bernd A., Lal, Dennis
Published in Neurol Genet (2018)

Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders

by Vincent, Marie, Karolak, Justyna A., Deutsch, Gail, Gambin, Tomasz, Popek, Edwina, Isidor, Bertrand, Szafranski, Przemyslaw, Le Caignec, Cedric, Stankiewicz, Paweł
Published in Am J Respir Crit Care Med (2019)

First French study relative to preconception genetic testing: 1500 general population participants’ opinion

by Bonneau, Valérie, Nizon, Mathilde, Latypova, Xenia, Gaultier, Aurélie, Hoarau, Eugénie, Bézieau, Stéphane, Minguet, Guy, Turrini, Mauro, Jourdain, Maud, Isidor, Bertrand
Published in Orphanet J Rare Dis (2021)

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q

by Kantaputra, Piranit N, Klopocki, Eva, Hennig, Bianca P, Praphanphoj, Verayuth, Le Caignec, Cédric, Isidor, Bertrand, Kwee, Mei L, Shears, Deborah J, Mundlos, Stefan
Published 2010

Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome

by Carapito, Raphael, Goldenberg, Alice, Paul, Nicodème, Pichot, Angélique, David, Albert, Hamel, Antoine, Dumant-Forest, Clémentine, Leroux, Julien, Ory, Benjamin, Isidor, Bertrand, Bahram, Seiamak
Published in Eur J Hum Genet (2016)

Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1

by Garrity, Madison, Kavus, Haluk, Rojas-Vasquez, Marta, Valenzuela, Irene, Larson, Austin, Reed, Sara, Bellus, Gary, Mignot, Cyril, Munnich, Arnold, Isidor, Bertrand, Chung, Wendy K.
Published in Cold Spring Harb Mol Case Stud (2021)

Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region

by Vallat, Jean-Michel, Nizon, Mathilde, Magee, Alex, Isidor, Bertrand, Magy, Laurent, Péréon, Yann, Richard, Laurence, Ouvrier, Robert, Cogné, Benjamin, Devaux, Jérôme, Zuchner, Stephan, Mathis, Stéphane
Published in J Neuropathol Exp Neurol (2016)

Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain

by Le Gloan, Laurianne, Hauet, Quentin, David, Albert, Hanna, Nadine, Arfeuille, Chloé, Arnaud, Pauline, Boileau, Catherine, Romefort, Bénédicte, Benbrik, Nadir, Gournay, Véronique, Joram, Nicolas, Baron, Olivier, Isidor, Bertrand
Published in Mol Syndromol (2016)

Primary Osteoporosis in Young Adults: Genetic Basis and Identification of Novel Variants in Causal Genes

by Collet, Corinne, Ostertag, Agnès, Ricquebourg, Manon, Delecourt, Marine, Tueur, Giulia, Isidor, Bertrand, Guillot, Pascale, Schaefer, Elise, Javier, Rose‐Marie, Funck‐Brentano, Thomas, Orcel, Philippe, Laplanche, Jean‐Louis, Cohen‐Solal, Martine
Published in JBMR Plus (2017)

MAN1B1-CDG: Three new individuals and associated biochemical profiles

by Sakhi, Soraya, Cholet, Sophie, Wehbi, Samer, Isidor, Bertrand, Cogne, Benjamin, Vuillaumier-Barrot, Sandrine, Dupré, Thierry, Detleft, Trost, Schmitt, Emmanuelle, Leheup, Bruno, Bonnet, Céline, Feillet, François, Muti, Christine, Fenaille, François, Bruneel, Arnaud
Published in Mol Genet Metab Rep (2021)

Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

by van Rahden, Vanessa A, Rau, Isabella, Fuchs, Sigrid, Kosyna, Friederike K, de Almeida, Hiram Larangeira, Fryssira, Helen, Isidor, Bertrand, Jauch, Anna, Joubert, Madeleine, Lachmeijer, Augusta M A, Zweier, Christiane, Moog, Ute, Kutsche, Kerstin
Published 2014

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3

by Tokita, Mari J, Chow, Penny M, Mirzaa, Ghayda, Dikow, Nicola, Maas, Bianca, Isidor, Bertrand, Le Caignec, Cédric, Penney, Lynette S, Mazzotta, Giovanni, Bernardini, Laura, Filippi, Tiziana, Battaglia, Agatino, Donti, Emilio, Earl, Dawn, Prontera, Paolo
Published in Eur J Hum Genet (2015)

MB-33 CLINICAL CHARACTERISTICS OF PATIENTS WITH GERMLINE SUFU MUTATIONS

by Rousseau, Léa Guerrini, Bataille, Marine Guillaud, Bourdeaut, Franck, Puget, Stéphanie, Dufour, Christelle, Grill, Jacques, Bressac, Brigitte, Sariban, Eric, Vilain, Catherine, Isidor, Bertrand, Mansuy, Ludovic, Winship, Ingrid, Delattre, Olivier, Couanet, Dominique Valteau, Brugières, Laurence
Published in Neuro Oncol (2016)

Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas

by Isidor, Bertrand, Bourdeaut, Franck, Lafon, Delfine, Plessis, Ghislaine, Lacaze, Elodie, Kannengiesser, Caroline, Rossignol, Sylvie, Pichon, Olivier, Briand, Annaig, Martin-Coignard, Dominique, Piccione, Maria, David, Albert, Delattre, Olivier, Jeanpierre, Cécile, Sévenet, Nicolas, Le Caignec, Cédric
Published 2013