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Similar burden of pathogenic coding variants in exceptionally long‐lived individuals and individuals without exceptional longevity2020 Aging Cell article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access cited by 1 patent
Danielle Gutman, Gabriel Arie Lidzbarsky, Sofiya Milman, Tina Gao, Patrick Sin‐Chan, Claudia G. Gonzaga-Jauregui, +4 more
13citations -
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features2024 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Morad Ansari, Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica Rose Denhoff, +49 more
3citations -
Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants2020 Journal of Medical Genetics article Medicine Pancreatic and Hepatic Oncology Research Open access
Kasper A. Overbeek, Mar D M Rodríguez-Girondo, Anja Wagner, Nienke van der Stoep, Peter C. van den Akker, Jan C. Oosterwijk, +7 more
31citations -
Germline landscape of RPA1, RPA2 and RPA3 variants in pediatric malignancies: identification of RPA1 as a novel cancer predisposition candidate gene2023 Frontiers in Oncology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Richa Sharma, Ninad Oak, Wenan Chen, Rose A. Gogal, Martin Kirschner, Fabian Beier, +4 more
5citations -
Infantile-Onset Glutaric Acidemia Type I with Mild Hepatopathy: Clinical, Biochemical, and Molecular Characterization of an Iranian Pediatric Cohort2026 Genes article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Zahra Beyzaei, Bita Geramizadeh, Seyed Mohsen Dehghani, Soroor Inaloo, Ralf Weiskirchen
0citations -
Population matched (pm) germline allelic variants of immunoglobulin (IG) loci: Relevance in infectious diseases and vaccination studies in human populations2021 Genes and Immunity article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Indu Khatri, Magdalena A. Berkowska, Erik B. van den Akker, Cristina Teodósio, Marcel J. T. Reinders, Jacques J. M. van Dongen
32citations -
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry2023 Genome Medicine article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Stefanie H. Mueller, Alvina Grace Lai, Maria Valkovskaya, Kyriaki Michailidou, Manjeet K. Bolla, Qin Wang, +91 more
15citations -
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome2026 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M. Nodelman, Sara Tholl Halldorsdottir, Stefania Benónísdóttir, Malak Ali Alghamdi, +60 more
2citations -
Depression and Inflammatory Bowel Disease: A Bidirectional Two-sample Mendelian Randomization Study2021 Journal of Crohn s and Colitis article Biochemistry, Genetics and Molecular Biology Inflammatory Bowel Disease Open access
Jiao Min Luo, Zhongwei Xu, Raymond Noordam, Diana van Heemst, Ruifang Li‐Gao
158citations -
Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences2020 Human Reproduction Update article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Miriam Elbracht, Deborah Mackay, Matthias Begemann, Karl Oliver Kagan, Thomas Eggermann
105citations -
Protocol for the EARCO Registry: a pan-European observational study in patients with α1-antitrypsin deficiency2020 ERJ Open Research article Medicine Chronic Obstructive Pulmonary Disease (COPD) Research Open access
Timm Greulich, Alan Altraja, Míriam Barrecheguren, Robert Bals, J Chlumský, Joanna Chorostowska‐Wynimko, +31 more
46citations -
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy2022 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access cited by 1 patent
Stijn Van de Sompele, Kent W. Small, Munevver Burcu Cicekdal, Víctor López-Soriano, Eva D’haene, Fadi S. Shaya, +23 more
33citations -
A Combined mRNA- and miRNA-Sequencing Approach Reveals miRNAs as Potential Regulators of the Small Intestinal Transcriptome in Celiac Disease2021 International Journal of Molecular Sciences article Medicine Celiac Disease Research and Management Open access
Ineke L. Tan, Donatella Barisani, Roberto Panceri, Rutger Modderman, Marijn Caroline Visschedijk, Rinse Karel Weersma, +4 more
16citations