Non-invasive prenatal testing leading to a maternal diagnosis of Charcot–Marie–Tooth neuropathy
Kumps, Camille, Niel Bütschi, Florence, Rapin, Blandine, Baud, David, Pescia, Graziano, Robyr, Daniel, Superti-Furga, Andrea, Unger, Sheila
Published in Journal of human genetics (01.11.2020)
Published in Journal of human genetics (01.11.2020)
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Journal Article
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures
Royer-Bertrand, Beryl, Jequier Gygax, Marine, Cisarova, Katarina, Rosenfeld, Jill A, Bassetti, Jennifer A, Moldovan, Oana, O'Heir, Emily, Burrage, Lindsay C, Allen, Jake, Emrick, Lisa T, Eastman, Emma, Kumps, Camille, Abbas, Safdar, Van Winckel, Geraldine, Chabane, Nadia, Zackai, Elaine H, Lebon, Sebastien, Keena, Beth, Bhoj, Elizabeth J, Umair, Muhammad, Li, Dong, Donald, Kirsten A, Superti-Furga, Andrea
Published in Molecular autism (26.10.2021)
Published in Molecular autism (26.10.2021)
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Journal Article
Constitutional diseases of bone: clinical flags
Debrach, Anne-Cécile, Brégou, Aline, Gonzalez Rodriguez, Elena, Pejin, Zagorka, Kumps, Camille, Craig, Ailsa, Pavlidou, Despina Christina, Atallah, Isis
Published in Revue médicale suisse (19.04.2023)
Published in Revue médicale suisse (19.04.2023)
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Journal Article
The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases
Kumps, Camille, Campos-Xavier, Belinda, Hilhorst-Hofstee, Yvonne, Marcelis, Carlo, Kraenzlin, Marius, Fleischer, Nicole, Unger, Sheila, Superti-Furga, Andrea
Published in Genes (14.04.2020)
Published in Genes (14.04.2020)
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Journal Article
O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum
Velmans, Clara, O'Donnell-Luria, Anne H, Argilli, Emanuela, Tran Mau-them, Frederic, Vitobello, Antonio, Chan, Marcus CY, Fung, Jasmine Lee-Fong, Rech, Megan, Abicht, Angela, Aubert Mucca, Marion, Carmichael, Jason, Chassaing, Nicolas, Clark, Robin, Coubes, Christine, Denommé-Pichon, Anne-Sophie, de Dios, John Karl, England, Eleina, Funalot, Benoit, Gerard, Marion, Joseph, Maries, Kennedy, Colleen, Kumps, Camille, Willems, Marjolaine, van de Laar, Ingrid M B.H, Aarts-Tesselaar, Coranne, van Slegtenhorst, Marjon, Lehalle, Daphné, Leppig, Kathleen, Lessmeier, Lennart, Pais, Lynn S, Paterson, Heather, Ramanathan, Subhadra, Rodan, Lance H, Superti-Furga, Andrea, Chung, Brian H.Y., Sherr, Elliott, Netzer, Christian, Schaaf, Christian P, Erger, Florian
Published in Journal of medical genetics (01.07.2022)
Published in Journal of medical genetics (01.07.2022)
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Journal Article
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene
Atallah, Isis, Quinodoz, Mathieu, Campos‐Xavier, Belinda, Peter, Virginie G., Fouriki, Athina, Bonvin, Christophe, Bottani, Armand, Kumps, Camille, Angelini, Federica, Bellutti Enders, Felicitas, Christen‐Zaech, Stéphanie, Rizzi, Mattia, Renella, Raffaele, Beck‐Popovic, Maja, Poloni, Claudia, Frossard, Valérie, Blouin, Jean‐Louis, Rivolta, Carlo, Riccio, Orbicia, Candotti, Fabio, Hofer, Michael, Unger, Sheila, Superti‐Furga, Andrea
Published in Clinical genetics (01.06.2021)
Published in Clinical genetics (01.06.2021)
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