Zenker, Martin

Identifying facial phenotypes of genetic disorders using deep learning

Gurovich, Y., Hanani, Y., Bar, O., Nadav, G., Fleischer, N., Gelbman, D., Basel-Salmon, L., Krawitz, P. M., Kamphausen, S. B., Zenker, M., et al. (2019) · Nature Medicine

Face recognition and analysisGenomics and Rare Diseases

Cited by 739

Germline KRAS mutations cause Noonan syndrome

Schubbert, S., Zenker, M., Rowe, S. L., Böll, S., Klein, C., Bollag, G., van der Burgt, I., Musante, L., Kalscheuer, V., Wehner, L.-E., et al. (2006) · Nature Genetics

Protein Tyrosine PhosphatasesProtein Kinase Regulation and GTPase Signaling

Cited by 730

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome

Sadowski, C. E., Lovric, S., Ashraf, S., Pabst, W. L., Gee, H. Y., Kohl, S., Engelmann, S., Vega-Warner, V., Fang, H., Halbritter, J., et al. (2015) · Journal of the American Society of Nephrology

Renal Diseases and GlomerulopathiesRenal and related cancers

Cited by 651

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

Endele, S., Rosenberger, G., Geider, K., Popp, B., Tamer, C., Stefanova, I., Milh, M., Kortüm, F., Fritsch, A., Pientka, F. K., et al. (2010) · Nature Genetics

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 499

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Zenker, M., Mayerle, J., Lerch, M. M., Tagariello, A., Zerres, K., Durie, P. R., Beier, M., Hülskamp, G., Guzman, C., Rehder, H., et al. (2005) · Nature Genetics

Ubiquitin and proteasome pathwaysGenomics and Rare Diseases

Cited by 266

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype

Martinelli, S., De Luca, A., Stellacci, E., Rossi, C., Checquolo, S., Lepri, F., Caputo, V., Silvano, M., Buscherini, F., Consoli, F., et al. (2010) · The American Journal of Human Genetics

Protein Tyrosine PhosphatasesGenomics and Rare Diseases

Cited by 259

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

Kleefstra, T., van Zelst-Stams, W. A., Nillesen, W. M., Cormier-Daire, V, Houge, G., Foulds, N., van Dooren, M., Willemsen, M. H., Pfundt, R., Turner, A., et al. (2009) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 252

Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders

Gremer, L., Merbitz-Zahradnik, T., Dvorsky, R., Cirstea, I. C., Kratz, C. P., Zenker, M., Wittinghofer, A., & Ahmadian, M. R. (2011) · Human Mutation

Protein Tyrosine PhosphatasesProtein Kinase Regulation and GTPase Signaling

Cited by 158

Fucosyltransferase 2 (FUT2) non-secretor status and blood group B are associated with elevated serum lipase activity in asymptomatic subjects, and an increased risk for chronic pancreatitis: a genetic association study

Weiss, F. U., Schurmann, C., Guenther, A., Ernst, F., Teumer, A., Mayerle, J., Simon, P., Völzke, H., Radke, D., Greinacher, A., et al. (2015) · Gut

Pancreatitis Pathology and TreatmentGenetic Associations and Epidemiology

Cited by 88

NFIB haploinsufficiency is associated with intellectual disability and macrocephaly

Schanze, I., Bunt, J., Lim, J. W. C., Schanze, D., Dean, R. J., Alders, M., Blanchet, P., Attié-Bitach, T., Berland, S., Boogert, S., et al. (2018) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 63

Microbial composition of tumorous and adjacent gastric tissue is associated with prognosis of gastric cancer

Lehr, K., Nikitina, D., Vilchez-Vargas, R., Steponaitiene, R., Thon, C., Skieceviciene, J., Schanze, D., Zenker, M., Malfertheiner, P., Kupcinskas, J., et al. (2023) · Scientific Reports

Helicobacter pylori-related gastroenterology studiesGut microbiota and health

Cited by 54

DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies

Sukalo, M., Tilsen, F., Kayserili, H., Müller, D., Tüysüz, B., Ruddy, D. M., Wakeling, E., Ørstavik, K. H., Snape, K. M., Trembath, R., et al. (2015) · Human Mutation

Congenital limb and hand anomaliesGenomics and Rare Diseases

Cited by 50

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: Phenotype comparison in two related syndromes

Mulder, P. A., van Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., et al. (2020) · Journal of Intellectual Disability Research

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 33

Somatic RIT1 delins in arteriovenous malformations hyperactivate RAS-MAPK signaling amenable to MEK inhibition

Kapp, F. G., Bazgir, F., Mahammadzade, N., Mehrabipour, M., Vassella, E., Bernhard, S. M., Döring, Y., Holm, A., Karow, A., Seebauer, C., et al. (2024) · Angiogenesis

Vascular Malformations and HemangiomasVascular Malformations Diagnosis and Treatment

Cited by 20