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American Journal of Medical Genetics. Part A|March 12, 2021
The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in GRIP1Mine Koprulu, Aneeta Kumare, Anisa Bibi, et al.The Yale Journal of Biology and Medicine|October 2, 2023
Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and HypospadiasMine Koprulu, Rana Muhammad Kamran Shabbir, Sara Mumtaz, et al.Biology of Sex Differences|June 17, 2026
Exploring sex-specific causal links between thousands of proteins and lipid metabolism using the UK Biobank Pharma Proteomics Project dataDaniela Zanetti, Mine Koprulu, Federica Grosso, et al.European Journal of Medical Genetics|March 1, 2021
CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomaliesMine Koprulu, Rana Muhammad Kamran Shabbir, Qamar Zaman, et al.The Lancet. Digital Health|June 21, 2024
Proteomic prediction of diverse incident diseases: a machine learning-guided biomarker discovery study using data from a prospective cohort studyJulia Carrasco-Zanini, Maik Pietzner, Mine Koprulu, et al.European Journal of Human Genetics : EJHG|June 8, 2022
KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomaliesMine Koprulu, Muhammad Naeem, Gökhan Nalbant, et al.Nature Metabolism|September 26, 2024
Mapping biological influences on the human plasma proteome beyond the genomeJulia Carrasco-Zanini, Eleanor Wheeler, Burulça Uluvar, et al.Nature Metabolism|February 24, 2023
Proteogenomic links to human metabolic diseasesMine Koprulu, Julia Carrasco-Zanini, Eleanor Wheeler, et al.Journal of Human Genetics|August 2, 2020
Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphismQandeel Zahra, Çağla Çakmak, Mine Koprulu, et al.Nature Genetics|October 3, 2025
A genetic map of human metabolism across the allele frequency spectrumMartijn Zoodsma, Carl Beuchel, Summaira Yasmeen, et al.Pageof 3