Get started
Author

Marc Pauper

The power of genetic diversity in genome-wide association studies of lipids
2021 · Sarah E. Graham, Shoa L. Clarke, et al. · Nature · 994
PDF
A saturated map of common genetic variants associated with human height
2022 · Loïc Yengo, Sailaja Vedantam, et al. · Nature · 888
PDF
Transposons passively and actively contribute to evolution of the two-speed genome of a fungal pathogen
2016 · Luigi Faino, Michael F. Seidl, et al. · Genome Research · 323
PDF
Optical genome mapping enables constitutional chromosomal aberration detection
2021 · Tuomo Mantere, Kornelia Neveling, et al. · The American Journal of Human Genetics · 265
Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping
2021 · Kornelia Neveling, Tuomo Mantere, et al. · The American Journal of Human Genetics · 216
PDF
Polygenic prediction of body mass index and obesity through the life course and across ancestries
2025 · Roelof A. J. Smit, Kaitlin H. Wade, et al. · Nature Medicine · 73
Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation
2018 · Laura Lorés-Motta, Constantin C. Paun, et al. · Ophthalmology · 72
PDF
Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis
2022 · Stavroula Kanoni, Sarah E. Graham, et al. · Genome biology · 70
PDF
The Functional Effect of Rare Variants in Complement Genes on C3b Degradation in Patients With Age-Related Macular Degeneration
2016 · Maartje J. Geerlings, Mariann Kremlitzka, et al. · JAMA Ophthalmology · 56
PDF
Long-read trio sequencing of individuals with unsolved intellectual disability
2020 · Marc Pauper, Erdi Kucuk, et al. · European Journal of Human Genetics · 55
PDF
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
2022 · Shweta Ramdas, Jonathan Judd, et al. · The American Journal of Human Genetics · 48
PDF
Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch’s Membrane
2018 · Jordi Corominas, Johanna M. Colijn, et al. · Ophthalmology · 48
Association of Genetic Variants With Response to Anti–Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration
2018 · Laura Lorés-Motta, Moeen Riaz, et al. · JAMA Ophthalmology · 45
PDF
Family-based exome sequencing identifies rare coding variants in age-related macular degeneration
2020 · Rinki Ratnapriya, İlhan E Acar, et al. · Human Molecular Genetics · 37
PDF
Genetic screening for macular dystrophies in patients clinically diagnosed with dry age‐related macular degeneration
2018 · Eveline Kersten, Maartje J. Geerlings, et al. · Clinical Genetics · 32
PDF
A case–control genome-wide association study of ADHD discovers a novel association with the tenascin R (TNR) gene
2018 · Ziarih Hawi, Hannah Yates, et al. · Translational Psychiatry · 28
PDF
Next generation cytogenetics: genome-imaging enables comprehensive structural variant detection for 100 constitutional chromosomal aberrations in 85 samples
2020 · Tuomo Mantere, Kornelia Neveling, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 25
PDF
Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing
2018 · Jordi Corominas, Marieke Klein, et al. · Molecular Psychiatry · 23
PDF
Genotype‐phenotype correlations of low‐frequency variants in the complement system in renal disease and age‐related macular degeneration
2018 · M.J. Geerlings, E.B. Volokhina, et al. · Clinical Genetics · 23
PDF
DNA methylation associated with persistent ADHD suggests TARBP1 as novel candidate
2020 · Annika L. Weiß, Mandy Meijer, et al. · Neuropharmacology · 21
PDF
Genome-wide association study reveals novel genetic locus associated with intra-individual variability in response time
2018 · Ari Pinar, Ziarih Hawi, et al. · Translational Psychiatry · 20
PDF
Proteomic Profiling Towards a Better Understanding of Genetic Based Muscular Diseases: The Current Picture and a Look to the Future
2025 · Marc Pauper, Andreas Hentschel, et al. · Biomolecules · 18
PDF
Author Correction: The power of genetic diversity in genome-wide association studies of lipids
2023 · Sarah E. Graham, Shoa L. Clarke, et al. · Nature · 18
PDF
Correction: Long-read trio sequencing of individuals with unsolved intellectual disability
2021 · Marc Pauper, Erdi Kucuk, et al. · European Journal of Human Genetics · 5
PDF
557PA muscular dystrophy associated with bi-allelic LEMD2 variants: expanding the genotype of nuclear envelopathies
2025 · H. Kölbel, M. Pauper, et al. · Neuromuscular Disorders · 1
Works count: 68
Citation count: 3,406
H-index: 20
I10-index: 23
Year
Topic
Type