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Publications

2025

Aldisi, R. S., Alsamman, A. M., Krawitz, P., Maj, C., and Zayed, H. “Identification of novel proteomic biomarkers for hypertension: a targeted approach for precision medicine”. In: Clinical Proteomics 22.1 (2025), p. 7.

Bruenger, C. M., Oeffner, F., Koebbe, L. L., … Maj, C., Al-Kassou, B., and Schumacher, J. “Implications of monogenic bicuspid aortic valve (BAV) forms among sporadic BAV patients”. In: European Journal of Human Genetics (2025), pp. 1–4. 

Hassanin, E., Landoulsi, Z., Pachchek, S., … Maj, C., Krüger, R., May, P., and Bobbili, D. R. “Penetrance of Parkinson’s disease in GBA1 carriers depends on variant severity and polygenic background”. In: npj Parkin- son’s Disease 11.1 (2025), p. 162. 

Hoffmann, J., Meller, T., Maj, C., … Forstner, A. J., Nöthen, M. M., and Nenadić, I. “Differential Association of Schizotypy Dimensions With Brain Structural Connectivity and Moderation by Schizophrenia Poly- genic Risk”. In: Schizophrenia Bulletin 51.Supplement_2 (2025), S149– S159. 

Lammi, V., Nakanishi, T., Jones, S. E., … Ochoa-Guzman, A., Fulton- Howard, B. E., and Broberg, M. “Genome-wide association study of long COVID”. In: Nature Genetics (2025), pp. 1–16. 

Meller, T., Lundberg, C., Maj, C., … Forstner, A. J., Nöthen, M. M., and Nenadić, I. “Schizotypy, psychosis proneness, and the polygenic risk for schizophrenia and resilience”. In: Schizophrenia Bulletin 51.Supplement_2 (2025), S85–S94. 

Reingruber, J., Krämer, M. J., Bigge, J., … Maj, C., Hess, T., and Schu- macher, J. “Assessing the suitability of formalin-fixed paraffin-embedded (FFPE) tissue for genome-wide association studies (GWAS)”. In: BMC Research Notes 18.1 (2025), p. 254. doi: 10.1186/s13104-025-07301-6.

Trenkwalder, T., Maj, C., Al-Kassou, B., … Dasmeh, P., Grover, S., and Knoll, K. “Distinct genetic risk profile in aortic stenosis compared with coronary artery disease”. In: JAMA cardiology 10.2 (2025), pp. 145–154. doi: 10.1186/s13104-025-07301-6. 

Yan, L., He, Q., Verma, S. P., … Maj, C., Naderi, E., Chen, J., and Ali, M. W. “Biologically targeted discovery-replication scan identifies G×G interaction in relation to risk of Barrett’s esophagus and esophageal ade- nocarcinoma”. In: Human Genetics and Genomics Advances 6.2 (2025), pp. 145–154. doi: 10.1186/s13104-025-07301-6. 

2024

Bigge, J., Koebbe, L. L., Giel, A.-S., … Zink, A. M., Maj, C., and Schu- macher, J. “Expression quantitative trait loci influence DNA damage- induced apoptosis in cancer”. In: BMC genomics 25.1 (2024), pp. 1–13. doi: 10.1186/s13104-025-07301-6. 

Cattane, N., Mazzelli, M., Begni, V., … Maj, C., Riva, M. A., and Cat- taneo, A. “Molecular mechanisms underlying stress vulnerability and re- silience in the chronic mild stress model: New insights from mRNA and miRNAs data combining”. In: Brain, Behavior, and Immunity 121.1 (2024), pp. 340–350. doi: 10.1186/s13104-025-07301-6. 

Giel, A.-S., Bigge, J., Schumacher, J., Maj, C., and Dasmeh, P. “Analysis of Evolutionary Conservation, Expression Level, and Genetic Association at a Genome-wide Scale Reveals Heterogeneity Across Polygenic Pheno- types”. In: Molecular Biology and Evolution 41.7 (2024), msae115. doi: 10.1186/s13104-025-07301-6. 

Klinkhammer, H., Staerk, C., Maj, C., Krawitz, P. M., and Mayr, A. “Ge- netic Prediction Modeling in Large Cohort Studies via Boosting Targeted Loss Functions”. In: Statistics in Medicine 43.28 (2024), pp. 5412–5430. doi: 10.1186/s13104-025-07301-6. 

Koebbe, L. L., Hess, T., Giel, A.-S., … Venerito, M., Schumacher, J., and Maj, C. “The genetic regulation of the gastric transcriptome is associated with metabolic and obesity-related traits and diseases”. In: Physiological Genomics 56.5 (2024), pp. 384–396. doi: 10.1152/physiolgenomics. 00011.2024. 

Kumar, S., Borisov, O., Maj, C., … Groß, J., Maintz, L., and Heineke, A. “Founder variants in KRT5 and POGLUT1 are Implicated in Dowling- Degos Disease”. In: Journal of Investigative Dermatology 144.1 (2024), pp. 181–184. doi: 10.1152/physiolgenomics.00011.2024. 

Maj, C., Eberts, A., Schumacher, J., and Dasmeh, P. “Single-cell analysis reveals the spatial-temporal expression of genes associated with esophageal malformations”. In: Scientific Reports 14.1 (2024), p. 3752. doi: 10.1152/ physiolgenomics.00011.2024. 

Mathey, C. M., Maj, C., Eriksson, N., … Scheer, A. B., Szabo, N., and Wedi, B. “Meta-analysis of ACE inhibitor–induced angioedema identifies novel risk locus”. In: Journal of Allergy and Clinical Immunology 153.4 (2024), pp. 1073–1082. doi: 10.1152/physiolgenomics.00011.2024. 

Qiao, L., Welch, C. L., Hernan, R., … Maj, C., Schindel, D., Potoka, D., and Chung, W. K. “Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants”. In: The American Journal of Human Genetics 111.11 (2024), pp. 2362–2381. doi: 10.1016/j.ajhg.2024.09.006. 

Schmidt, A., Casadei, N., Brand, F., … Maj, C., Riess, O., Schulte, E. C., and Ludwig, K. U. “Systematic assessment of COVID-19 host genetics using whole genome sequencing data”. In: PLoS Pathogens 20.12 (2024), e1012786. doi: 10.1371/journal.ppat.1012786

Schowe, A., Czamara, D., Moenkediek, B., … Pahnke, C., Forstner, A., and Maj, C. “Accelerated biological aging during the Covid-19 pandemic– a twinlife epigenetic change satellite study”. In: Neuroscience Applied 3.12 (2024), p. 104031. doi: 10.1371/journal.ppat.1012786. 

Staerk, C., Klinkhammer, H., Wistuba, T., Maj, C., and Mayr, A. “Gen- eralizability of polygenic prediction models: how is the R2 defined on test data?”. In: BMC Medical Genomics 17.1 (2024), p. 132. doi: 10.1371/ journal.ppat.1012786. 

Stiehler, S., Sembill, S., Schleicher, O., … Suttorp, M., Woelfle, J., and Maj, C. “Imatinib treatment and longitudinal growth in pediatric patients with chronic myeloid leukemia: influence of demographic, pharmacological, and genetic factors in the German CML-PAED cohort”. In: Haematologica 109.8 (2024), p. 2555. doi: 10.1371/journal.ppat.1012786. 

Went, M., Sud, A., Mills, C., … Gockel, I., Maj, C., and Schumacher, J. “Phenome-wide Mendelian randomisation analysis of 378,142 cases reveals risk factors for eight common cancers”. In: Nature Communications 15.1 (2024), p. 2637. doi: 10.1371/journal.ppat.1012786. 

Yin, X., Richardson, M., Laner, A., … Maj, C., Macrae, F. A., Spier, I., and Aretz, S. “Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS”. In: The American Journal of Human Genetics 111.11 (2024), pp. 2427–2443. doi: 10.1016/j.ajhg.2024.10.002. 

2023

Aldisi, R., Hassanin, E., Sivalingam, S., … Fröhlich, H., Krawitz, P., and Maj, C. “Gene-based burden scores identify rare variant associations for 28 blood biomarkers”. In: BMC genomic data 24.1 (2023), p. 50. doi: 10.1016/j.ajhg.2024.10.002. 

Balestra, C., Maj, C., Müller, E., and Mayr, A. “Redundancy-aware unsu- pervised ranking based on game theory: Ranking pathways in collections of gene sets”. In: Plos one 18.3 (2023), e0282699. doi: 10.1016/j.ajhg. 2024.10.002. 

Begg, T. J. A., Schmidt, A., Kocher, A., … Barquera, R., Maj, C., and Szolek, A. “Genomic analyses of hair from Ludwig van Beethoven”. In: Current Biology 33.8 (2023), pp. 1431–1447. doi: 10.1016/j.ajhg.2024. 10.002. 

Chen, Y., Hysi, P., Maj, C., … Spector, T. D., Liu, F., and Kayser, M. “Genetic prediction of male pattern baldness based on large independent datasets”. In: European Journal of Human Genetics 31.3 (2023), pp. 321– 328. doi: 10.1016/j.ajhg.2024.10.002. 

Dueñas, N., Klinkhammer, H., Bonifaci, N., … Maj, C., Capellá, G., Aretz, S., and Brunet, J. “Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome”. In: Journal of Medical Genetics 60.11 (2023), pp. 1044–1051. doi: 10.1136/jmg-2022-108923.

Grover, S., Opoku, V. S., Debrah, L. B., Maj, C., … Debrah, A. Y., Schu- macher, J., and Pfarr, K. “First genome-wide association study for lym- phatic filariasis in a West African population points to a human leukocyte antigen-mediated disease pathophysiology”. In: International Journal of Infectious Diseases 133.11 (2023), pp. 1–4. doi: 10.1136/jmg-2022- 108923. 

Hassanin, E., Lee, K.-H., Hsieh, T.-C., … May, P., Chen, C.-Y., and Maj, C. “Trans-ancestry polygenic models for the prediction of LDL blood levels: an analysis of the United Kingdom Biobank and Taiwan Biobank”. In: Frontiers in Genetics 14.11 (2023), p. 1286561. doi: 10.1136/jmg-2022- 108923. 

Hassanin, E., Maj, C., Klinkhammer, H., Krawitz, P., May, P., and Bob- bili, D. R. “Assessing the performance of European-derived cardiometabolic polygenic risk scores in South-Asians and their interplay with family his- tory”. In: BMC Medical Genomics 16.1 (2023), p. 164. doi: 10.1136/jmg- 2022-108923. 

Hassanin, E., Spier, I., Bobbili, D. R., … May, P., Aretz, S., and Maj, C. “Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence”. In: BMC Medical Genomics 16.1 (2023), p. 42. doi: 10.1186/s12920-023- 01453-y. 

Henne, S. K., Aldisi, R., Sivalingam, S., … Maj, C., Nöthen, M. M., and Heilmann-Heimbach, S. “Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss”. In: Nature communications 14.1 (2023), p. 5492. doi: 10.1186/s12920-023-01453-y. 

Hess, T., Maj, C., Gehlen, J., … Piessen, G., Alakus, H., and Vashist, Y. “Dissecting the genetic heterogeneity of gastric cancer”. In: EBioMedicine 92.1 (2023), p. 5492. doi: 10.1186/s12920-023-01453-y

 Hoelzel, S., Ishorst, N., Greve, C., … Maj, C., Nothnagel, M., and Herir- Kwa, J. Y. “Disruption of zfhx4 leads to defects in zebrafish craniofacial development matching human characteristics of nonsyndromic cleft lip with cleft palate”. In: European Journal Of Human Genetics 31.1 (2023), pp. 385–385. doi: 10.1186/s12920-023-01453-y. 

Ishorst, N., Henschel, L., Thieme, F., … Maj, C., Becker, T., Ludwig, K. U., and Mangold, E. “Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores”. In: Molecular Genetics & Genomic Medicine 11.3 (2023), e2109. doi: 10. 1002/mgg3.2109. 

Kanai, M., Andrews, S. J., Cordioli, M., … Pathak, G. A., Iwasaki, A., and Karjalainen, J. “A second update on mapping the human genetic architecture of COVID-19”. In: Nature 621.7977 (2023), E7–E26. doi: 10. 1002/mgg3.2109. 

Klau, J. H., Maj, C., Klinkhammer, H., … Hillmer, A. M., Schumacher, J., and Heider, D. “AI-based multi-PRS models outperform classical single- PRS models”. In: Frontiers in Genetics 14.7977 (2023), p. 1217860. doi: 10.1002/mgg3.2109. 

Klinkhammer, H., Staerk, C., Maj, C., Krawitz, P. M., and Mayr, A. “A statistical boosting framework for polygenic risk scores based on large- scale genotype data”. In: Frontiers in Genetics 13.7977 (2023), p. 1076440. doi: 10.1002/mgg3.2109. 

Namba, S., Saito, Y., Kogure, Y., … Maj, C., Whiteman, D. C., Okada, Y., and Kataoka, K. “Common germline risk variants impact somatic alterations and clinical features across cancers”. In: Cancer Research 83.1 (2023), pp. 20–27. doi: 10.1158/0008-5472.CAN-22-2222. 

Schröder, J., Chegwidden, L., Maj, C., … Hess, T., Kreuser, N., and Vener- ito, M. “GWAS meta-analysis of 16 790 patients with Barrett’s oesophagus and oesophageal adenocarcinoma identifies 16 novel genetic risk loci and provides insights into disease aetiology beyond the single marker level”. In: Gut 72.4 (2023), pp. 612–623. doi: 10.1158/0008-5472.CAN-22-2222. 

2022

Aldisi, R., Hassanin, E., Sivalingam, S., … Fröhlich, H., Krawitz, P., and Maj, C. “GenRisk: a tool for comprehensive genetic risk modeling”. In: Bioinformatics 38.9 (2022), pp. 2651–2653. doi: 10.1158/0008-5472. CAN-22-2222. 

Cattane, N., Courtin, C., Mombelli, E., Maj, C., … Bellivier, F., Marie- Claire, C., and Cattaneo, A. “Transcriptomics and miRNomics data inte- gration in lymphoblastoid cells highlights the key role of immune-related functions in lithium treatment response in Bipolar disorder”. In: BMC psychiatry 22.1 (2022), p. 665. doi: 10.1158/0008-5472.CAN-22-2222. 

Chan, M. M. Y., Sadeghi-Alavijeh, O., Lopes, F. M., … Maj, C., Bocken- hauer, D., Levine, A. P., and Gale, D. P. “Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves”. In: eLife 11.1 (2022), e74777. doi: 10.7554/eLife.74777. 

Degenhardt, F., Ellinghaus, D., Juzenas, S., … Maj, C., Karlsen, T. H., Cáceres, M., and Franke, A. “Detailed stratified GWAS analysis for severe COVID-19 in four European populations”. In: Human Molecular Genetics 31.23 (2022), pp. 3945–3966. doi: 10.7554/eLife.74777. 

Dwyer, D. B., Buciuman, M.-O., Ruef, A., … Maj, C., Upthegrove, R., Salokangas, R. K. R., and Koutsouleris, N. “Clinical, brain, and multilevel clustering in early psychosis and affective stages”. In: JAMA Psychiatry 79.7 (2022), pp. 677–689. doi: 10.1001/jamapsychiatry.2022.1472. 

Freff, J., Beins, E. C., Bröker, L., … Maj, C., Dannlowski, U., Nöthen, M. M., and Baune, B. T. “Chemokine receptor 4 expression on blood T lymphocytes predicts severity of major depressive disorder”. In: Jour- nal of Affective Disorders 310.7 (2022), pp. 343–353. doi: 10 . 1001 / jamapsychiatry.2022.1472.

Groen in’t Woud, S., Maj, C., Renkema, K. Y., … Feitz, W. F., Roeleveld, N., and Schreuder, M. F. “A genome-wide association study into the ae- tiology of congenital solitary functioning kidney”. In: Biomedicines 10.12 (2022), p. 3023. doi: 10.1001/jamapsychiatry.2022.1472.

Hassanin, E., May, P., Aldisi, R., … Krawitz, P., Bobbili, D. R., and Maj, C. “Breast and prostate cancer risk: The interplay of polygenic risk, rare pathogenic germline variants, and family history”. In: Genetics in Medicine 24.3 (2022), pp. 576–585. doi: 10.1001/jamapsychiatry.2022.1472.

Koutsouleris, N., Pantelis, C., Velakoulis, D., … Maj, C., Meisenzahl, E., Falkai, P., and Schroeter, M. L. “Exploring Links Between Psychosis and Frontotemporal Dementia Using Multimodal Machine Learning: Dementia Praecox Revisited”. In: JAMA Psychiatry 79.9 (2022), pp. 907–919. doi: 10.1001/jamapsychiatry.2022.2222.

Maj, C., Salvi, E., Citterio, L., … Glorioso, N., Thijs, L., and Kuznetsova, T. “Dissecting the polygenic basis of primary hypertension: identifica- tion of key pathway-specific components”. In: Frontiers in cardiovascular medicine 9.9 (2022), p. 814502. doi: 10.1001/jamapsychiatry.2022. 2222.

Maj, C., Staerk, C., Borisov, O., … Wai Yeung, M., Krawitz, P., and Mayr, A. “Statistical learning for sparser fine-mapped polygenic models: The prediction of LDL-cholesterol”. In: Genetic epidemiology 46.8 (2022), pp. 589–603. doi: 10.1001/jamapsychiatry.2022.2222.

Mathey, C. M., Maj, C., Scheer, A. B., … Löffler, H., Koch, L., and Schöffl, C. “Molecular genetic screening in patients with ACE inhibitor/angiotensin receptor blocker-induced angioedema to explore the role of hereditary an- gioedema genes”. In: Frontiers in genetics 13.9 (2022), p. 914376. doi: 10.1001/jamapsychiatry.2022.2222.

Mingardo, E., Beaman, G., Grote, P., … Maj, C., Odermatt, B., Knapp, M., and Reutter, H. “A genome-wide association study with tissue tran- scriptomics identifies genetic drivers for classic bladder exstrophy”. In: Communications Biology 5.1 (2022), p. 1203. doi: 10.1038/s42003-022- 04252-7.

Uellendahl-Werth, F., Maj, C., Borisov, O., … Bej, S., Krawitz, P., and Hoffmann, P. “Cross-tissue transcriptome-wide association studies identify susceptibility genes shared between schizophrenia and inflammatory bowel disease”. In: Communications biology 5.1 (2022), p. 80. doi: 10.1038/ s42003-022-04252-7

Zanden, L. F., Maj, C., Borisov, O., … Schneider, S., Waffenschmidt, L., and Kiemeney, L. A. “Genome-wide association study in patients with pos- terior urethral valves”. In: Frontiers in Pediatrics 10.1 (2022), p. 988374. doi: 10.1038/s42003-022-04252-7.