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The CRISPR Journal|April 20, 2021
Rescue of STAT3 Function in Hyper-IgE Syndrome Using Adenine Base EditingAndreas C Eberherr, Andre Maaske, Christine Wolf, et al.Journal of Neurology|December 21, 2023
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnosesMartin Krenn, Matias Wagner, Gudrun Zulehner, et al.Neuro-Oncology|June 22, 2019
Driver mutations in USP8 wild-type Cushing's diseaseSilviu Sbiera, Luis Gustavo Perez-Rivas, Lyudmyla Taranets, et al.Hypertension (Dallas, Tex. : 1979)|December 29, 2011
KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronismPaolo Mulatero, Philipp Tauber, Maria-Christina Zennaro, et al.The Journal of Clinical Endocrinology and Metabolism|April 28, 2026
Outcome Of First-Line Chemotherapy For Anaplastic Thyroid Cancer - A Multicenter Registry AnalysisKatharina Elisabeth Graf, Pia Adam, Felix Megerle, et al.Neurogenetics|November 19, 2013
Rare variants in LRRK1 and Parkinson's diseaseEva C Schulte, Daniel C Ellwanger, Sybille Dihanich, et al.European Journal of Human Genetics : EJHG|December 1, 2016
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable conditionAlma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, et al.Movement Disorders : Official Journal of the Movement Disorder Society|July 9, 2026
Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omicsUgo Sorrentino, Melanie Brugger, Alice Saparov, et al.Movement Disorders : Official Journal of the Movement Disorder Society|April 10, 2026
Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4Philip Harrer, Volker Kittke, Alice Saparov, et al.Cell Reports|May 21, 2020
MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange SyndromeIlaria Parenti, Farah Diab, Sara Ruiz Gil, et al.Pageof 11