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Papers matching “variant database” 158

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Germline landscape of RPA1, RPA2 and RPA3 variants in pediatric malignancies: identification of RPA1 as a novel cancer predisposition candidate gene
2023 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

5

citations
Prevalence of Inherited Predisposition Syndromes in Young Patients with Acute Myeloid Leukemia and Aberrant Karyotype
2020 Blood article Medicine Acute Myeloid Leukemia Research

Martin Kirschner, Benjamin Rolles, Martina Margrit Crysandt, Christoph Röllig, Friedrich Stölzel, Martin Bornhäuser, +12 more

4

citations
Infantile-Onset Glutaric Acidemia Type I with Mild Hepatopathy: Clinical, Biochemical, and Molecular Characterization of an Iranian Pediatric Cohort
2026 Genes article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access

Zahra Beyzaei, Bita Geramizadeh, Seyed Mohsen Dehghani, Soroor Inaloo, Ralf Weiskirchen

0

citations
JATOS/JATOS: JATOS v3.12.0
2026 Zenodo (CERN European Organization for Nuclear Research) software Decision Sciences Scientific Computing and Data Management Open access

Kristian Lange, Jelle Pleunes, Poulami Ghosh, Jori, Émile Enguehard, Shreshth Saxena, +2 more

0

citations
Development of an amplicon nanopore sequencing strategy for detection of mutations conferring intermediate resistance to vancomycin in Staphylococcus aureus strains
2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Antimicrobial Resistance in Staphylococcus Open access

Abraham G Moller, Robert A. Petit, Michelle H. Davis, Timothy D. Read

0

citations
The prevalence and impact of university affiliation discrepancies between four bibliographic databases—Scopus, Web of Science, Dimensions, and Microsoft Academic
2022 Quantitative Science Studies article Decision Sciences scientometrics and bibliometrics research Open access

Philip J. Purnell

30

citations
Reinspection of a Clinical Proteomics Tumor Analysis Consortium (CPTAC) Dataset with Cloud Computing Reveals Abundant Post-Translational Modifications and Protein Sequence Variants
2021 Cancers article Chemistry Advanced Proteomics Techniques and Applications Open access

Amol Prakash, Lorne Taylor, Manu Varkey, Nate Hoxie, Yassene Mohammed, Young Ah Goo, +19 more

13

citations
The prevalence and impact of university affiliation discrepancies between four well-known bibliometric databases.
2021 arXiv (Cornell University) preprint Decision Sciences scientometrics and bibliometrics research Open access

Philip J. Purnell

0

citations
Cysteine-Altering NOTCH3 Variants Are a Risk Factor for Stroke in the Elderly Population
2020 Stroke article Medicine Cerebrovascular and genetic disorders Open access

Remco J. Hack, Julie W. Rutten, Thomas Nate Person, Jiang Li, Ayesha Khan, Christoph Johannes Griessenauer, +3 more

37

citations
Enrichment of colibactin-associated mutational signatures in unexplained colorectal polyposis patients
2024 BMC Cancer article Medicine Genetic factors in colorectal cancer Open access

Diantha Terlouw, Arnoud Boot, Quinten R. Ducarmon, Sam Nooij, Manon Suerink, Monique Esther van Leerdam, +8 more

16

citations
Enrichment of colibactin-associated mutational signatures in unexplained colorectal polyposis patients
2023 medRxiv preprint Medicine Genetic factors in colorectal cancer Open access

Diantha Terlouw, Arnoud Boot, Quinten R. Ducarmon, Sam Nooij, Manon Suerink, Monique Esther van Leerdam, +8 more

0

citations
Population matched (pm) germline allelic variants of immunoglobulin (IG) loci: Relevance in infectious diseases and vaccination studies in human populations
2021 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

32

citations
Estimated Prevalence, Tumor Spectrum, and Neurofibromatosis Type 1–Like Phenotype of CDKN2A-Related Melanoma-Astrocytoma Syndrome
2023 JAMA Dermatology article Medicine Neurofibromatosis and Schwannoma Cases Open access

Michael R. Sargen, Jung Kim, Thomas P. Potjer, Mary E. Velthuizen, Arelis Esther Martir-Negron, Yazmín Odia, +16 more

15

citations
Autonomous BCR signaling and the CARD11 L251P mutation as alternative oncogenic drivers induce identical gene expression profiles in genetically engineered ABC-DLBCL models
2025 Blood conference-abstract Medicine Lymphoma Diagnosis and Treatment Open access

Janneke A. Eken, Edwin Quinten, Cornelis A.M. van Bergen, Hendrik Veelken

0

citations
Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry
2023 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

15

citations
Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis
2024 PLoS ONE review Medicine Thyroid Disorders and Treatments Open access

Beatriz Carmona‐Hidalgo, Carmen Martín Gómez, Estefanía Herrera‐Ramos, Rocío Rodríguez-López, Laia-Nou Fontanet, José Carlos Moreno, +3 more

5

citations
Development of a collaborative online knowledge management system for incremental sheet forming
2023 Materials research proceedings conference-paper Engineering Metal Forming Simulation Techniques Open access

Thomas Bremen

3

citations
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome
2026 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

2

citations
Measuring Open Access uptake: Data sources, expectations, and misconceptions
2020 Institutional Repository of the University of Granada (University of Granada) article Decision Sciences scientometrics and bibliometrics research Open access

Nicolás Robinson‐García, Thed N. van Leeuwen

2

citations
Delineating genotype and parent‐of‐origin effect on the phenotype in MSH6‐associated Lynch syndrome
2024 Genes Chromosomes and Cancer article Medicine Genetic factors in colorectal cancer Open access

Mar Rodríguez‐Girondo, Carli M.J. Tops, Liselotte van Hest, Floor A.M. Duijkers, Anja Wagner, Ellis L. Eikenboom, +9 more

2

citations
The Dutch cardiomyopathy registry (DCR); rationale and registry design
2026 Netherlands Heart Journal article Medicine Cardiomyopathy and Myosin Studies Open access

Peter-Paul M. Zwetsloot, Michiel T.H.M. Henkens, Erik P.A. van Iperen, Michiel Minten, Evelien van der Schaaf-de Wolf, Linda Wilhelmina Van Laake, +29 more

1

citations
Translating real‐world evidence/real‐world data
2024 Clinical and Translational Science article Economics, Econometrics and Finance Pharmaceutical Economics and Policy Open access

Paulien G. M. Ravenstijn

0

citations
FedSLIM: Privacy-Preserving Federated MDL-Based Descriptive Pattern Mining Across Data Silos
2026 arXiv (Cornell University) preprint Computer Science Privacy-Preserving Technologies in Data Open access

Samar Samir Khalil, Noha S. Tawfik, Marco René Spruit

0

citations
Depression and Inflammatory Bowel Disease: A Bidirectional Two-sample Mendelian Randomization Study
2021 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

158

citations
Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences
2020 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

105

citations