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Matter, Alyssia; Kaufman, Christina; Zürcher, Nadia; Lenggenhager, Daniela; Grehten, Patrice; Bartholdi, Deborah; Horka, Laura; Häberle, Johannes; Makris, Georgios (2024). LEMD2-associated progeroid syndrome: Expanding the phenotype of the nuclear envelopathy caused by a defect in LEMD2 gene. Aging cell, 23(8), e14189. Wiley 10.1111/acel.14189
Di Lazzaro Filho, Ricardo; Yamamoto, Guilherme Lopes; Silva, Tiago J; Rocha, Leticia A; Linnenkamp, Bianca D W; Castro, Matheus Augusto Araújo; Bartholdi, Deborah; Schaller, André; Leeb, Tosso; Kelmann, Samantha; Utagawa, Claudia Y; Steiner, Carlos E; Steinmetz, Leandra; Honjo, Rachel Sayuri; Kim, Chong Ae; Wang, Lisa; Abourjaili-Bilodeau, Raphaël; Campeau, Philippe; Warman, Matthew; Passos-Bueno, Maria Rita; ... (2023). Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome. Journal of medical genetics, 60(11), pp. 1127-1132. BMJ Publishing Group 10.1136/jmg-2022-109119
Liang, Lina; Liu, Huihui; Bartholdi, Deborah; van Haeringen, Arie; Fernandez-Jaén, Alberto; Peeters, Els E A; Xiong, Hongbo; Bai, Xuemei; Xu, Chengqi; Ke, Tie; Wang, Qing K (2022). Identification and Functional Analysis of Two New De Novo KCNMA1 Variants Associated with Liang-Wang syndrome. Acta physiologica, 235(1), e13800. Wiley 10.1111/apha.13800
Broser, Philip; von Mengershausen, Ursula; Heldt, Katrin; Bartholdi, Deborah; Braun, Dominique; Wolf, Christine; Lee-Kirsch, Min Ae (2022). Precision treatment of Singleton Merten syndrome with ruxolitinib: a case report. Pediatric rheumatology, 20(1), p. 24. BioMed Central 10.1186/s12969-022-00686-7
Neubauer, Jacqueline; Wang, Zizun; Rougier, Jean-Sébastien; Abriel, Hugues; Rieubland, Claudine; Bartholdi, Deborah; Haas, Cordula; Medeiros-Domingo, Argelia (2019). Functional characterization of a novel SCN5A variant associated with long QT syndrome and sudden cardiac death. International journal of legal medicine, 133(6), pp. 1733-1742. Springer 10.1007/s00414-019-02141-x
Xu, Cheng; Cassatella, Daniele; van der Sloot, Almer M; Quinton, Richard; Hauschild, Michael; De Geyter, Christian; Flück Pandey, Christa Emma; Feller, Katrin Madeleine; Bartholdi, Deborah; Nemeth, Attila; Halperin, Irene; Pekic Djurdjevic, Sandra; Maeder, Philippe; Papadakis, Georgios; Dwyer, Andrew A; Marino, Laura; Favre, Lucie; Pignatelli, Duarte; Niederländer, Nicolas J; Acierno, James; ... (2018). Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants. Genetics in medicine, 20(8), pp. 872-881. Palgrave Macmillan 10.1038/gim.2017.197
Asatryan, Babken; Schaller, André; Bartholdi, Deborah; Medeiros Domingo, Argelia (2018). Late-onset severe long QT syndrome. Annals of noninvasive electrocardiology, 23(4), e12517. Wiley 10.1111/anec.12517
Berezowska, Sabina Anna; Christe, Andreas; Bartholdi, Deborah; Koch, Markus; von Garnier, Christophe (2018). Pulmonary Fibrous Nodule with Ossifications as a Hint for Vascular Ehlers-Danlos Syndrome with Missense Mutation in COL3A1. American journal of respiratory and critical care medicine, 197(5), pp. 661-662. American Lung Association 10.1164/rccm.201709-1963IM
Asadollahi, Reza; Strauss, Justin E; Zenker, Martin; Beuing, Oliver; Edvardson, Simon; Elpeleg, Orly; Strom, Tim M; Joset, Pascal; Niedrist, Dunja; Otte, Christine; Oneda, Beatrice; Boonsawat, Paranchai; Azzarello-Burri, Silvia; Bartholdi, Deborah; Papik, Michael; Zweier, Markus; Haas, Cordula; Ekici, Arif B; Baumer, Alessandra; Boltshauser, Eugen; ... (2018). Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. European journal of human genetics, 26(2), pp. 197-209. Nature Publishing Group 10.1038/s41431-017-0019-9
Hofstaetter, Cornelia; Courage, Carolina; Bartholdi, Deborah; Biskup, Saskia; Raio, Luigi (2018). Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report. Clinical case reports, 6(2), pp. 420-425. Wiley 10.1002/ccr3.1368
Bolognini, Ramona; Gerth-Kahlert, Christina; Abegg, Mathias; Bartholdi, Deborah; Mathis, Nicolas; Sturm, Veit; Gallati, Sabina; Schaller, André (2017). Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing. BMC medical genetics, 18(1), p. 22. BioMed Central 10.1186/s12881-017-0383-x
Di Donato, Nataliya; Jean, Ying Y; Maga, A Murat; Krewson, Briana D; Shupp, Alison B; Avrutsky, Maria I; Roy, Achira; Collins, Sarah; Olds, Carissa; Willert, Rebecca A; Czaja, Agnieszka M; Johnson, Rachel; Stover, Jessi A; Gottlieb, Steven; Bartholdi, Deborah; Rauch, Anita; Goldstein, Amy; Boyd-Kyle, Victoria; Aldinger, Kimberly A; Mirzaa, Ghayda M; ... (2016). Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. American journal of human genetics, 99(5), pp. 1117-1129. Cell Press 10.1016/j.ajhg.2016.09.010
Lemke, Johannes R.; Hendrickx, Rik; Geider, Kirsten; Laube, Bodo; Schwake, Michael; Harvey, Robert J.; James, Victoria M.; Pepler, Alex; Steiner, Isabelle; Hörtnagel, Konstanze; Neidhardt, John; Ruf, Susanne; Wolff, Markus; Bartholdi, Deborah; Caraballo, Roberto; Platzer, Konrad; Suls, Arvid; De Jonghe, Peter; Biskup, Saskia and Weckhuysen, Sarah (2014). GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy. Annals of neurology, 75(1), pp. 147-154. Wiley-Blackwell 10.1002/ana.24073
Hilton, Emma; Johnston, Jennifer; Whalen, Sandra; Okamoto, Nobuhiko; Hatsukawa, Yoshikazu; Nishio, Juntaro; Kohara, Hiroshi; Hirano, Yoshiko; Mizuno, Seiji; Torii, Chiharu; Kosaki, Kenjiro; Manouvrier, Sylvie; Boute, Odile; Perveen, Rahat; Law, Caroline; Moore, Anthony; Fitzpatrick, David; Lemke, Johannes; Fellmann, Florence; Debray, Francois-Guillaume; ... (2009). BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. European journal of human genetics, 17(10), 1325-35. Epub 2009 Apr 15.. Houndmills, UK: Nature Publishing Group 10.1038/ejhg.2009.52
