Bartholdi, Deborah

Sousa, M; Maamari, B; Bremova, T; Nuoffer, J M; Wiest, R; Amstutz, D; Krack, P; Bartholdi, D; Tinkhauser, G (2024). Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62. Parkinsonism & related disorders, 120, p. 105460. Elsevier 10.1016/j.parkreldis.2023.105460

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

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

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