Nürnberg, Peter

Severe COVID-19 Is Marked by a Dysregulated Myeloid Cell Compartment

Schulte-Schrepping, J., Reusch, N., Paclik, D., Baßler, K., Schlickeiser, S., Zhang, B., Krämer, B., Krammer, T., Brumhard, S., Bonaguro, L., et al. (2020) · Cell

COVID-19 Clinical Research StudiesSARS-CoV-2 and COVID-19 Research

Cited by 1,461

Swarm Learning for decentralized and confidential clinical machine learning

Warnat-Herresthal, S., Schultze, H., Shastry, K. L., Manamohan, S., Mukherjee, S., Garg, V., Sarveswara, R., Händler, K., Pickkers, P., Aziz, N. A., et al. (2021) · Nature

Privacy-Preserving Technologies in DataBlockchain Technology Applications and Security

Cited by 884

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.

Helbig, I., Mefford, H. C., Sharp, A. J., Guipponi, M., Fichera, M., Franke, A., Muhle, H., de Kovel, C., Baker, C., von Spiczak, S., et al. (2009) · Nature Genetics

Epilepsy research and treatmentGenomic variations and chromosomal abnormalities

Cited by 551

Correlation between Genetic and Geographic Structure in Europe

Lao, O., Lu, T. T., Nothnagel, M., Junge, O., Freitag-Wolf, S., Caliebe, A., Balascakova, M., Bertranpetit, J., Bindoff, L. A., Comas, D., et al. (2008) · Current Biology

Forensic and Genetic ResearchGenetic diversity and population structure

Cited by 503

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

The International League Against Epilepsy Consortium on Complex Epilepsies, Abou-Khalil, B., Auce, P., Avbersek, A., Bahlo, M., Balding, D. J., Bast, T., Baum, L., Becker, A. J., Becker, F., et al. (2018) · Nature Communications

Epilepsy research and treatmentGenetic Associations and Epidemiology

Cited by 482

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

Metherell, L. A., Chapple, J. P., Cooray, S., David, A., Becker, C., Rüschendorf, F., Naville, D., Begeot, M., Khoo, B., Nürnberg, P., et al. (2005) · Nature Genetics

Adrenal Hormones and DisordersStress Responses and Cortisol

Cited by 437

Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

Pasutto, F., Sticht, H., Hammersen, G., Gillessen-Kaesbach, G., FitzPatrick, D. R., Nürnberg, G., Brasch, F., Schirmer-Zimmermann, H., Tolmie, J. L., Chitayat, D., et al. (2007) · The American Journal of Human Genetics

Congenital limb and hand anomaliesOcular Disorders and Treatments

Cited by 361

Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

Bergmann, C., Fliegauf, M., Brüchle, N. O., Frank, V., Olbrich, H., Kirschner, J., Schermer, B., Schmedding, I., Kispert, A., Kränzlin, B., et al. (2008) · The American Journal of Human Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 324

RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity

Jenkins, D., Seelow, D., Jehee, F. S., Perlyn, C. A., Alonso, L. G., Bueno, D. F., Donnai, D., Josifiova, D., Mathijssen, I. M. J., Morton, J. E. V., et al. (2007) · The American Journal of Human Genetics

Craniofacial Disorders and TreatmentsHedgehog Signaling Pathway Studies

Cited by 276

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

Kurth, I., Pamminger, T., Hennings, J. C., Soehendra, D., Huebner, A. K., Rotthier, A., Baets, J., Senderek, J., Topaloglu, H., Farrell, S. A., et al. (2009) · Nature Genetics

Hereditary Neurological DisordersPain Mechanisms and Treatments

Cited by 260

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

Janecke, A. R., Thompson, D. A., Utermann, G., Becker, C., Hübner, C. A., Schmid, E., McHenry, C. L., Nair, A. R., Rüschendorf, F., Heckenlively, J., et al. (2004) · Nature Genetics

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 246

HMGB2 Loss upon Senescence Entry Disrupts Genomic Organization and Induces CTCF Clustering across Cell Types

Zirkel, A., Nikolic, M., Sofiadis, K., Mallm, J.-P., Brackley, C. A., Gothe, H., Drechsel, O., Becker, C., Altmüller, J., Josipovic, N., et al. (2018) · Molecular Cell

Genomics and Chromatin DynamicsTelomeres, Telomerase, and Senescence

Cited by 226

Demographic History of Oceania Inferred from Genome-wide Data

Wollstein, A., Lao, O., Becker, C., Brauer, S., Trent, R. J., Nürnberg, P., Stoneking, M., & Kayser, M. (2010) · Current Biology

Forensic and Genetic ResearchPacific and Southeast Asian Studies

Cited by 218

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

Lemke, J. R., Geider, K., Helbig, K. L., Heyne, H. O., Schütz, H., Hentschel, J., Courage, C., Depienne, C., Nava, C., Heron, D., et al. (2016) · Neurology

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 200

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

Huang, L., Szymanska, K., Jensen, V. L., Janecke, A. R., Innes, A. M., Davis, E. E., Frosk, P., Li, C., Willer, J. R., Chodirker, B. N., et al. (2011) · The American Journal of Human Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 194

Replication of Lung Cancer Susceptibility Loci at Chromosomes 15q25, 5p15, and 6p21: A Pooled Analysis From the International Lung Cancer Consortium

Truong, T., Hung, R. J., Amos, C. I., Wu, X., Bickeböller, H., Rosenberger, A., Sauter, W., Illig, T., Wichmann, H.-E., Risch, A., et al. (2010) · JNCI: Journal of the National Cancer Institute

Genetic Associations and EpidemiologyLung Cancer Research Studies

Cited by 194

Loss of chondroitin 6- O -sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

Thiele, H., Sakano, M., Kitagawa, H., Sugahara, K., Rajab, A., Höhne, W., Ritter, H., Leschik, G., Nürnberg, P., & Mundlos, S. (2004) · Proceedings of the National Academy of Sciences

Proteoglycans and glycosaminoglycans researchConnective tissue disorders research

Cited by 190

Genome-wide analysis indicates more Asian than Melanesian ancestry of Polynesians

Kayser, M., Lao, O., Saar, K., Brauer, S., Wang, X., Nürnberg, P., Trent, R. J., & Stoneking, M. (2008) · The American Journal of Human Genetics

Forensic and Genetic ResearchPacific and Southeast Asian Studies

Cited by 174

LRP4 mutations alter Wnt/β-catenin signaling and cause limb and kidney malformations in Cenani–Lenz syndrome

Li, Y., Pawlik, B., Elcioglu, N., Aglan, M., Kayserili, H., Yigit, G., Percin, F., Goodman, F., Nürnberg, G., Cenani, A., et al. (2010) · The American Journal of Human Genetics

Congenital limb and hand anomaliesWnt/β-catenin signaling in development and cancer

Cited by 171

TGFβ signaling directs serrated adenomas to the mesenchymal colorectal cancer subtype

Fessler, E., Drost, J., van Hooff, S. R., Linnekamp, J. F., Wang, X., Jansen, M., De Sousa E Melo, F., Prasetyanti, P. R., IJspeert, J. E., Franitza, M., et al. (2016) · EMBO Molecular Medicine

TGF-β signaling in diseasesColorectal Cancer Treatments and Studies

Cited by 159

RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

Lal, D., Reinthaler, E. M., Altmüller, J., Toliat, M. R., Thiele, H., Nürnberg, P., Lerche, H., Hahn, A., Møller, R. S., Muhle, H., et al. (2013) · PLoS ONE

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 113

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

Beetz, C., Johnson, A., Schuh, A. L., Thakur, S., Varga, R.-E., Fothergill, T., Hertel, N., Bomba-Warczak, E., Thiele, H., Nürnberg, G., et al. (2013) · Proceedings of the National Academy of Sciences

Hereditary Neurological DisordersCellular transport and secretion

Cited by 106

Rare mutations of CACNB2 found in autism spectrum disease-affected families alter calcium channel function

Breitenkamp, A. F. S., Matthes, J., Nass, R. D., Sinzig, J., Lehmkuhl, G., Nürnberg, P., & Herzig, S. (2014) · PLoS ONE

Ion channel regulation and functionAutism Spectrum Disorder Research

Cited by 49

Extending the phenotypic spectrum of RBFOX 1 deletions: Sporadic focal epilepsy

Lal, D., Pernhorst, K., Klein, K. M., Reif, P., Tozzi, R., Toliat, M. R., Winterer, G., Neubauer, B., Nürnberg, P., Rosenow, F., et al. (2015) · Epilepsia

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 40