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Exploiting Synthetic Lethality between Germline BRCA1 Haploinsufficiency and PARP Inhibition in JAK2V617F-Positive Myeloproliferative Neoplasms2023 International Journal of Molecular Sciences article Medicine PARP inhibition in cancer therapy Open access
Max Bermes, María Jimena Rodriguez, Marcelo A. S. Toledo, Sabrina Ernst, Gerhard Müller‐Newen, Tim H. Brümmendorf, +3 more
7citations -
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model2022 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Antonio Vitobello, Benoît Mazel, Vera G. Lelianova, Alice Zangrandi, Evelina Petitto, Jason Suckling, +34 more
49citations -
Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy2020 Scientific Reports article Biochemistry, Genetics and Molecular Biology Mitochondrial Function and Pathology Open access
Marie Anne‐Catherine Neumann, Dajana Großmann, Simone Schimpf‐Linzenbold, Dana Dayan, Katarína Štingl, Reut Ben‐Menachem, +12 more
23citations -
Author Correction: Rps14 haploinsufficiency causes a block in erythroid differentiation mediated by S100A8 and S100A92024 Nature Medicine erratum Biochemistry, Genetics and Molecular Biology Blood disorders and treatments Open access
Rebekka K. Schneider, Monica Schenone, Mónica S. Ventura Ferreira, Rafael Kramann, Cailin E. Joyce, Christina R. Hartigan, +14 more
1citations -
Dravet variant SCN1A A1783V impairs interneuron firing predominantly by altered channel activation2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Neuroscience Neuroscience and Neuropharmacology Research Open access
Nikolas Layer, Lukas Sonnenberg, Emilio Pardo González, Jan Benda, Holger Lerche, Henner Koch, +1 more
0citations -
Dravet Variant SCN1AA1783V Impairs Interneuron Firing Predominantly by Altered Channel Activation2021 Frontiers in Cellular Neuroscience article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Nikolas Layer, Lukas Sonnenberg, Emilio Pardo González, Jan Benda, Ulrike B. S. Hedrich, Holger Lerche, +2 more
17citations -
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals2023 Frontiers in Cell and Developmental Biology article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C. Bramswig, +31 more
24citations -
Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase 2D (KMT2D/MLL4)2022 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Malvin Jefri, Xin Zhang, Patrick S. Stumpf, Li Zhang, Huashan Peng, Nuwan C. Hettige, +12 more
12citations -
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome2022 Neurology article Biochemistry, Genetics and Molecular Biology Ion Transport and Channel Regulation Open access
Maike Franziska Dohrn, Adriana P. Rebelo, Siddharth Srivastava, Gerarda Cappuccio, Robert Śmigiel, Alka Malhotra, +8 more
11citations -
A Potential Link between hnRNP K and Cebpα: Implications for Ribosomal Dysfunction in Acute Myeloid Leukemia (AML)2023 Blood conference-abstract Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Sean M. Post, Kerstin Rhan, Shelley M. Herbrich, Oscar Benitez, Ashley Rodriguez, Xiaorui Zhang, +5 more
1citations -
Genetic barcoding systematically compares genes in del(5q) MDS and reveals a central role for CSNK1A1 in clonal expansion2022 Blood Advances article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Ursula Stalmann, Fabio Ticconi, Inge Snoeren, Ronghui Li, Hélène F.E. Gleitz, Glenn S. Cowley, +19 more
12citations -
Efficacy of Allicin against Plant Pathogenic Fungi and Unveiling the Underlying Mode of Action Employing Yeast Based Chemogenetic Profiling Approach2020 Applied Sciences article Agricultural and Biological Sciences Garlic and Onion Studies Open access
Muhammad Sarfraz, Muhammad Jawad Nasim, Claus Jacob, Martin C. H. Gruhlke
35citations