Caroline Rooryck

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 17

Top Venues

Clinical genetics

Cells

Prenatal diagnosis

Journal of medical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Alexis Billes, Mathilde Pujalte, Guillaume Jedraszak, Daniel Amsallem, Elise Boudry-Labis, Odile Boute, Sonia Bouquillon, Elise Brischoux-Boucher, Patrick Callier, Charles Coutton, Anne-Laude Avice Denizet, Klaus Dieterich, Paul Kuentz, James Lespinasse, Benoît Mazel, Gilles Morin, Florence Amram, Perrine Pennamen, Marlène Rio, Juliette Piard, Audrey Putoux, Mélanie Rama, Virginie Roze-Guillaumey, Caroline Schluth-Bolard, Marianne Till, Chloé Trouvé, Gaëlle Vieville, Caroline Rooryck, Damien Sanlaville, Nicolas Chatron
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication. Clinical genetics (2024)
Alexis Billes, Mathilde Pujalte, Guillaume Jedraszak, Daniel Amsallem, Elise Boudry-Labis, Odile Boute, Sonia Bouquillon, Elise Brischoux-Boucher, Patrick Callier, Charles Coutton, Anne-Laude Avice Denizet, Klaus Dieterich, Paul Kuentz, James Lespinasse, Benoît Mazel, Gilles Morin, Florence Amram, Perrine Pennamen, Marlène Rio, Juliette Piard, Audrey Putoux, Mélanie Rama, Virginie Roze-Guillaumey, Caroline Schluth-Bolard, Marianne Till, Chloé Trouvé, Gaëlle Vieville, Caroline Rooryck, Damien Sanlaville, Nicolas Chatron
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication. Clinical genetics 106 (3) (2024)
Christel Thauvin-Robinet, Aurore Garde, Julian Delanne, Caroline Racine, Thierry Rousseau, Emmanuel Simon, Michel François, Sebastien Moutton, Odent Sylvie, Chloe Quelin, Godelieve Morel, Alice Goldenberg, Anne-Marie Guerrot, Gabriella Vera, Nicolas Gruchy, Cindy Colson, Odile Boute, Carine Abel, Audrey Putoux, Jeanne Amiel, Agnes Guichet, Bertrand Isidor, Caroline Deiller, Constance Wells, Caroline Rooryck, Marine Legendre, Christine Francannet, Rodolphe Dard, Sabine Sigaudy, Ange-Line Bruel, Hana Safraou, Anne Sophie Denommé-Pichon, Sophie Nambot, Marie-Laure Humbert Asensio, Christine Binquet, Yannis Duffourd, Antonio Vitobello, Christophe Philippe, Laurence Faivre, Frédéric Tran-Mau-Them, Nicolas Bourgon
Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders. Prenatal diagnosis (2024)
Alexis Hermida, Flavie Ader, Gilles Millat, Guillaume Jedraszak, Philippe Maury, Romain Cador, Pierre Antoine Catalan, Gaël Clerici, Nicolas Combes, Pascal De Groote, Delphine Dupin-Deguine, Romain Eschalier, Laurence Olivier-Faivre, Patricia Garcia, Benoit Guillon, Alexandre Janin, Beatrice Kugener, Marylin Lackmy, Mikael Laredo, Xavier Maximin Le Guillou Horn, François Lesaffre, Hugues Lucron, Antoine Milhem, Gwenaël Nadeau, Karine Nguyen, Asurélien Palmyre, Elodie Perdreau, François Picard, Nicolas Rebotier, Pascale Richard, Caroline Rooryck, Julien Seitz, Alain Verloes, Agathe Vernier, Pierre Winum, Grace-A-Dieu Yabeta, Océane Bouchot, Philippe Chevalier, Philippe Charron, Estelle Gandjbakhch
NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis. Circulation. Genomic and precision medicine (2023)
Nathalie Vadrot, Flavie Ader, Maryline Moulin, Marie Merlant, Françoise Chapon, Estelle Gandjbakhch, Fabien Labombarda, Pascale Maragnes, Patricia Réant, Caroline Rooryck, Vincent Probst, Erwan Donal, Pascale Richard, Ana Ferreiro, Brigitte Buendia
Abnormal Cellular Phenotypes Induced by Three TMPO /LAP2 Variants Identified in Men with Cardiomyopathies. Cells 12 (2) (2023)
Cécile Courdier, John Boudjarane, Valérie Malan, Christine Muti, Brian Sperelakis-Beedham, Sylvie Odent, Sylvie Jaillard, Chloé Quelin, Cédric Le Caignec, Olivier Patat, Charlotte Dubucs, Sophie Julia, Caroline Schluth-Bolard, Carole Goumy, Sylvia Redon, Jean-Baptiste Gaillard, Minh Tuan Huynh, Céline Dupont, Anne-Claude Tabet, Guillaume Cogan, François Vialard, Rodolphe Dard, Guillaume Jedraszak, Florence Jobic, Mathilde Lefebvre, Geneviève Quenum, Saori Inai, Mélanie Rama, Fanny Sauvestre, Frédéric Coatleven, Julie Thomas, Caroline Rooryck
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome). Prenatal diagnosis (2023)
Cécile Courdier, John Boudjarane, Valérie Malan, Christine Muti, Brian Sperelakis-Beedham, Sylvie Odent, Sylvie Jaillard, Chloé Quelin, Cédric Le Caignec, Olivier Patat, Charlotte Dubucs, Sophie Julia, Caroline Schluth-Bolard, Carole Goumy, Sylvia Redon, Jean-Baptiste Gaillard, Minh Tuan Huynh, Céline Dupont, Anne-Claude Tabet, Guillaume Cogan, François Vialard, Rodolphe Dard, Guillaume Jedraszak, Florence Jobic, Mathilde Lefebvre, Geneviève Quenum, Saori Inai, Mélanie Rama, Fanny Sauvestre, Frédéric Coatleven, Julie Thomas, Caroline Rooryck
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome). Prenatal diagnosis (2023)
Nathalie Vadrot, Flavie Ader, Maryline Moulin, Marie Merlant, Françoise Chapon, Estelle Gandjbakhch, Fabien Labombarda, Pascale Maragnes, Patricia Réant, Caroline Rooryck, Vincent Probst, Erwan Donal, Pascale Richard, Ana Ferreiro, Brigitte Buendia
Abnormal Cellular Phenotypes Induced by Three TMPO /LAP2 Variants Identified in Men with Cardiomyopathies. Cells 12 (2) (2023)
Eva Kohaut, Flavie Ader, Caroline Rooryck, Fanny Pelluard, Maryse Bonnière, Gwenaelle André, Fanny Sauvestre, Philippe Roth, Diala Khraiche, Bettina Bessières, Tania Attie-Bitach, Pascale Richard
Morphological and genetic causes of fetal cardiomyopathies. Clinical genetics (2023)
Nathalie Vadrot, Flavie Ader, Maryline Moulin, Marie Merlant, Françoise Chapon, Estelle Gandjbakhch, Fabien Labombarda, Pascale Maragnes, Patricia Réant, Caroline Rooryck, Vincent Probst, Erwan Donal, Pascale Richard, Ana Ferreiro, Brigitte Buendia
Abnormal Cellular Phenotypes Induced by Three TMPO /LAP2 Variants Identified in Men with Cardiomyopathies. Cells 12 (2) (2023)
Nathalie Vadrot, Flavie Ader, Maryline Moulin, Marie Merlant, Françoise Chapon, Estelle Gandjbakhch, Fabien Labombarda, Pascale Maragnes, Patricia Réant, Caroline Rooryck, Vincent Probst, Erwan Donal, Pascale Richard, Ana Ferreiro, Brigitte Buendia
Abnormal Cellular Phenotypes Induced by Three TMPO /LAP2 Variants Identified in Men with Cardiomyopathies. Cells 12 (2) (2023)
Tristan Celse, Angèle Tingaud-Sequeira, Klaus Dieterich, Geraldine Siegfried, Cédric Lecaignec, Laurence Bouneau, Madeleine Fannemel, Gaelle Salaun, Fanny Laffargue, Guillaume Martinez, Véronique Satre, Gaelle Vieville, Marie Bidart, Cecilia Soussi Zander, Ann-Charlotte Turesson, Miranda Splitt, Dorothee Reboul, Jean Chiesa, Philippe Khau Van Kien, Manon Godin, Nicolas Gruchy, Himanshu Goel, Elizabeth Palmer, Kalliope Demetriou, Carolyn Shalhoub, Caroline Rooryck, Charles Coutton
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum. Journal of medical genetics (2022)
Angèle Tingaud-Sequeira, Aurélien Trimouille, Thomas Sagardoy, Didier Lacombe, Caroline Rooryck
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease. Journal of medical genetics 59 (5) (2022)
Aurélien Trimouille, Angèle Tingaud-Sequeira, Didier Lacombe, Tina Duelund Hjortshøj, Sven Kreiborg, Hanne Buciek Hove, Caroline Rooryck
Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3. Clinical genetics 98 (4) (2021)
Angèle Tingaud-Sequeira, Aurélien Trimouille, Manju Salaria, Rachel Stapleton, Stéphane Claverol, Claudio Plaisant, Marc Bonneu, Estelle Lopez, Benoit Arveiler, Didier Lacombe, Caroline Rooryck
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum. Human genetics 140 (6) (2021)
Angèle Tingaud-Sequeira, Aurélien Trimouille, Sandrine Marlin, Estelle Lopez, Marie Berenguer, Souad Gherbi, Benoit Arveiler, Didier Lacombe, Caroline Rooryck
Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS. Molecular genetics & genomic medicine 8 (10) (2020)
Stephanie Brun, Perrine Pennamen, Aurelien Mattuizzi, Frederic Coatleven, Marie Laure Vuillaume, Didier Lacombe, Benoit Arveiler, Jérôme Toutain, Caroline Rooryck
Interest of chromosomal microarray analysis in the prenatal diagnosis of fetal intrauterine growth restriction. Prenatal diagnosis 38 (13) (2018)

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Publication Activity (10 Years)

Top Topics

Top Venues

Caroline Rooryck