Antonarakis, Stylianos E.

Peutz-Jeghers syndrome: Confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4

Mehenni, H., Blouin, J.-L., Radhakrishna, U., Bhardwaj, S. S., Bhardwaj, K., Dixit, V. B., Richards, K. F., Bermejo-Fenoll, A., Silva Leal, A., Raval, R. C., et al. (1997) · The American Journal of Human Genetics

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Systematic proteome and proteostasis profiling in human trisomy 21 fibroblast cells

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Biased Allelic Expression in Human Primary Fibroblast Single Cells

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Single-cell and spatial transcriptomicsRNA Research and Splicing

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Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

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Linkage map of the short arm of human chromosome 11: location of the genes for catalase, calcitonin, and insulin-like growth factor II.

Kittur, S. D., Hoppener, J. W., Antonarakis, S. E., Daniels, J. D., Meyers, D. A., Maestri, N. E., Jansen, M., Korneluk, R. G., Nelkin, B. D., & Kazazian, H. H. (1985) · Proceedings of the National Academy of Sciences

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Brief Report: Isogenic Induced Pluripotent Stem Cell Lines From an Adult With Mosaic Down Syndrome Model Accelerated Neuronal Ageing and Neurodegeneration

Murray, A., Letourneau, A., Canzonetta, C., Stathaki, E., Gimelli, S., Sloan-Bena, F., Abrehart, R., Goh, P., Lim, S., Baldo, C., et al. (2015) · Stem Cells

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Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions

Howald, C., Merla, G., Digilio, M. C., Amenta, S., Lyle, R., Deutsch, S., Choudhury, U., Bottani, A., Antonarakis, S. E., Fryssira, H., et al. (2006) · Journal of Medical Genetics

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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

Assoum, M., Philippe, C., Isidor, B., Perrin, L., Makrythanasis, P., Sondheimer, N., Paris, C., Douglas, J., Lesca, G., Antonarakis, S., et al. (2016) · The American Journal of Human Genetics

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MBV : a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay datasets

Fort, A., Panousis, N. I., Garieri, M., Antonarakis, S. E., Lappalainen, T., Dermitzakis, E. T., & Delaneau, O. (2017) · Bioinformatics

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Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature

Ansar, M., Ebstein, F., Özkoç, H., Paracha, S. A., Iwaszkiewicz, J., Gesemann, M., Zoete, V., Ranza, E., Santoni, F. A., Sarwar, M. T., et al. (2020) · Human Molecular Genetics

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Cloning of the cDNA for the Human ATP Synthase OSCP Subunit (ATP50) by Exon Trapping and Mapping to Chromosome 21q22.1-q22.2

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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

Hiatt, S. M., Trajkova, S., Sebastiano, M. R., Partridge, E. C., Abidi, F. E., Anderson, A., Ansar, M., Antonarakis, S. E., Azadi, A., Bachmann-Gagescu, R., et al. (2023) · The American Journal of Human Genetics

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