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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Published in:
Human Genetics, 2017, v. 136, n. 4, p. 463, doi. 10.1007/s00439-017-1772-0
By:
- Depienne, Christel;
- Nava, Caroline;
- Keren, Boris;
- Heide, Solveig;
- Passemard, Sandrine;
- Moutard, Marie-Laure;
- Amor, David;
- Billette de Villemeur, Thierry;
- Doummar, Diane;
- Alby, Caroline;
- Cormier-Daire, Valérie;
- Saint-Martin, Anne;
- Hirsch, Edouard;
- Faivre, Laurence;
- Burglen, Lydie;
- Odent, Sylvie;
- Delrue, Marie-Ange;
- Caignec, Cédric;
- Isidor, Bertrand;
- Renaldo, Florence
Publication type:
Article
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.
Published in:
2018
By:
- Geoffron, Sophie;
- Abi Habib, Walid;
- Chantot-Bastaraud, Sandra;
- Dubern, Béatrice;
- Steunou, Virginie;
- Azzi, Salah;
- Afenjar, Alexandra;
- Busa, Tiffanny;
- Canton, Ana P;
- Chalouhi, Christel;
- Dufourg, Marie-Noëlle;
- Esteva, Blandine;
- Fradin, Mélanie;
- Geneviève, David;
- Heide, Solveig;
- Isidor, Bertrand;
- Linglart, Agnès;
- Morice Picard, Fanny;
- Naud-Saudreau, Catherine;
- Oliver Petit, Isabelle
Publication type:
journal article
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals.
Published in:
Human Genetics, 2024, v. 143, n. 1, p. 71, doi. 10.1007/s00439-023-02622-5
By:
- Schmetz, Ariane;
- Lüdecke, Hermann-Josef;
- Surowy, Harald;
- Sivalingam, Sugirtahn;
- Bruel, Ange-Line;
- Caumes, Roseline;
- Charles, Perrine;
- Chatron, Nicolas;
- Chrzanowska, Krystyna;
- Codina-Solà, Marta;
- Colson, Cindy;
- Cuscó, Ivon;
- Denommé-Pichon, Anne-Sophie;
- Edery, Patrick;
- Faivre, Laurence;
- Green, Andrew;
- Heide, Solveig;
- Hsieh, Tzung-Chien;
- Hustinx, Alexander;
- Kleinendorst, Lotte
Publication type:
Article
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16294-6
By:
- Asselin, Laure;
- Rivera Alvarez, José;
- Heide, Solveig;
- Bonnet, Camille S.;
- Tilly, Peggy;
- Vitet, Hélène;
- Weber, Chantal;
- Bacino, Carlos A.;
- Baranaño, Kristin;
- Chassevent, Anna;
- Dameron, Amy;
- Faivre, Laurence;
- Hanchard, Neil A.;
- Mahida, Sonal;
- McWalter, Kirsty;
- Mignot, Cyril;
- Nava, Caroline;
- Rastetter, Agnès;
- Streff, Haley;
- Thauvin-Robinet, Christel
Publication type:
Article
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
Published in:
Prenatal Diagnosis, 2023, v. 43, n. 6, p. 746, doi. 10.1002/pd.6382
By:
- Nguyen, Toan;
- Heide, Solveig;
- Guilbaud, Lucie;
- Valence, Stéphanie;
- Perre, Saskia Vande;
- Blondiaux, Eléonore;
- Keren, Boris;
- Quenum‐Miraillet, Geneviève;
- Jouannic, Jean‐Marie;
- Mandelbrot, Laurent;
- Picone, Olivier;
- Guet, Agnès;
- Tsatsaris, Vassilis;
- Milh, Mathieu;
- Girard, Nadine;
- Vincent, Marie;
- Nizon, Mathilde;
- Poirsier, Céline;
- Vivanti, Alexandre;
- Benachi, Alexandra
Publication type:
Article
Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1645
By:
- Tosca, Lucie;
- Drévillon, Loïc;
- Mouka, Aurélie;
- Lecerf, Laure;
- Briand, Audrey;
- Ortonne, Valérie;
- Benoit, Virginie;
- Brisset, Sophie;
- Van Maldergem, Lionel;
- Laudouar, Quitterie;
- Heide, Solveig;
- Goossens, Michel;
- Giurgea, Irina;
- Tachdjian, Gérard;
- Métay, Corinne
Publication type:
Article
Simple FISH-based evaluation of spermatic nuclear architecture shows an abnormal chromosomal organization in balanced chromosomal rearrangement carriers.
Published in:
Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 4, p. 803, doi. 10.1007/s10815-020-01736-3
By:
- Mebrek, Majda Lyna;
- Clède, Sylvain;
- de Chalus, Aliénor;
- Heide, Solveig;
- Ruoso, Léa;
- Rogers, Eli;
- Lédée, Nathalie;
- Prat-Ellenberg, Laura;
- Cassuto, Nino Guy;
- Siffroi, Jean-Pierre;
- Rouen, Alexandre
Publication type:
Article
Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis.
Published in:
Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 5, p. 973, doi. 10.1007/s10815-019-01430-z
By:
- Pierron, Lucie;
- Irrmann, Alexandra;
- de Chalus, Aliénor;
- Bloch, Adrien;
- Heide, Solveig;
- Rogers, Eli;
- Lédée, Nathalie;
- Prat-Ellenberg, Laura;
- Coussement, Aurélie;
- Dupont, Jean-Michel;
- Cassuto, Nino Guy;
- Siffroi, Jean-Pierre;
- Rouen, Alexandre
Publication type:
Article
Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations.
Published in:
2016
By:
- Heide, Solveig;
- Masliah‐Planchon, Julien;
- Isidor, Bertrand;
- Guimier, Anne;
- Bodet, Damien;
- Coze, Carole;
- Deville, Anne;
- Thebault, Estelle;
- Pasquier, Corinne Jeanne;
- Cassagnau, Elisabeth;
- Pierron, Gaelle;
- Clément, Nathalie;
- Schleiermacher, Gudrun;
- Amiel, Jeanne;
- Delattre, Olivier;
- Peuchmaur, Michel;
- Bourdeaut, Franck
Publication type:
journal article
ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.
Published in:
2016
By:
- Mignot, Cyril;
- Moutard, Marie-Laure;
- Rastetter, Agnès;
- Boutaud, Lucile;
- Heide, Solveig;
- Billette, Thierry;
- Doummar, Diane;
- Garel, Catherine;
- Afenjar, Alexandra;
- Jacquette, Aurélia;
- Lacombe, Didier;
- Verloes, Alain;
- Bole-Feysot, Christine;
- Nitschké, Patrick;
- Masson, Cécile;
- Faudet, Anne;
- Lesne, Fabien;
- Bienvenu, Thierry;
- Alby, Caroline;
- Attié-Bitach, Tania
Publication type:
journal article
De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 962, doi. 10.1002/ajmg.a.61505
By:
- Chilton, Ilana;
- Okur, Volkan;
- Vitiello, Giuseppina;
- Selicorni, Angelo;
- Mariani, Milena;
- Goldenberg, Alice;
- Husson, Thomas;
- Campion, Dominique;
- Lichtenbelt, Klaske D.;
- Gassen, Koen;
- Steinraths, Michelle;
- Rice, Jennifer;
- Roeder, Elizabeth R.;
- Littlejohn, Rebecca O.;
- Srour, Myriam;
- Sebire, Guillaume;
- Accogli, Andrea;
- Héron, Delphine;
- Heide, Solveig;
- Nava, Caroline
Publication type:
Article
How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 151, doi. 10.1002/ajmg.a.38515
By:
- Schwartz, Mathias;
- Sternberg, Damien;
- Whalen, Sandra;
- Afenjar, Alexandra;
- Isapof, Arnaud;
- Chabrol, Brigitte;
- Portnoï, Marie‐France;
- Heide, Solveig;
- Keren, Boris;
- Chantot‐Bastaraud, Sandra;
- Siffroi, Jean‐Pierre
Publication type:
Article
Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome.
Published in:
Clinical Genetics, 2024, v. 106, n. 1, p. 90, doi. 10.1111/cge.14515
By:
- Gerasimenko, Anna;
- Mignot, Cyril;
- Naggara, Olivier;
- Coulet, Florence;
- Ekram, Samar;
- Heide, Solveig;
- Sorato, Clarisse;
- Mazowiecki, Maxime;
- Perrin, Laurence;
- Colas, Chrystelle;
- Cusin, Veronica;
- Caux, Frédéric;
- Dardenne, Antoine;
- El Chehadeh, Salima;
- Verloes, Alain;
- Maurey, Hélène;
- Afenjar, Alexandra;
- Petit, Florence;
- Barete, Stéphane;
- Boespflug‐Tanguy, Odile
Publication type:
Article
Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study.
Published in:
Clinical Genetics, 2022, v. 102, n. 2, p. 117, doi. 10.1111/cge.14141
By:
- Jouret, Guillaume;
- Heide, Solveig;
- Sorlin, Arthur;
- Faivre, Laurence;
- Chantot‐Bastaraud, Sandra;
- Beneteau, Claire;
- Denis‐Musquer, Marie;
- Turnpenny, Peter D.;
- Coutton, Charles;
- Vieville, Gaëlle;
- Thevenon, Julien;
- Larson, Austin;
- Petit, Florence;
- Boudry, Elise;
- Smol, Thomas;
- Delobel, Bruno;
- Duban‐Bedu, Bénédicte;
- Fallerini, Chiara;
- Mari, Francesca;
- Lo Rizzo, Caterina
Publication type:
Article
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A -Related Syndrome.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1815, doi. 10.3390/ijms23031815
By:
- Foroutan, Aidin;
- Haghshenas, Sadegheh;
- Bhai, Pratibha;
- Levy, Michael A.;
- Kerkhof, Jennifer;
- McConkey, Haley;
- Niceta, Marcello;
- Ciolfi, Andrea;
- Pedace, Lucia;
- Miele, Evelina;
- Genevieve, David;
- Heide, Solveig;
- Alders, Mariëlle;
- Zampino, Giuseppe;
- Merla, Giuseppe;
- Fradin, Mélanie;
- Bieth, Eric;
- Bonneau, Dominique;
- Dieterich, Klaus;
- Fergelot, Patricia
Publication type:
Article

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