Antonarakis, Stylianos E.

Landscape of transcription in human cells

Djebali, S., Davis, C. A., Merkel, A., Dobin, A., Lassmann, T., Mortazavi, A., Tanzer, A., Lagarde, J., Lin, W., Schlesinger, F., et al. (2012) · Nature

Genomics and Chromatin DynamicsRNA Research and Splicing

Cited by 5,187

The complete sequence of a human genome

Nurk, S., Koren, S., Rhie, A., Rautiainen, M., Bzikadze, A. V., Mikheenko, A., Vollger, M. R., Altemose, N., Uralsky, L., Gershman, A., et al. (2022) · Science

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 3,136

Transcriptome and genome sequencing uncovers functional variation in humans

The Geuvadis Consortium, Lappalainen, T., Sammeth, M., Friedländer, M. R., ‘t Hoen, P. A. C., Monlong, J., Rivas, M. A., Gonzàlez-Porta, M., Kurbatova, N., Griebel, T., et al. (2013) · Nature

Genetic Associations and EpidemiologyRNA Research and Splicing

Cited by 1,888

The Genome Sequence of Taurine Cattle: A Window to Ruminant Biology and Evolution

The Bovine Genome Sequencing and Analysis Consortium, Elsik, C. G., Tellam, R. L., Worley, K. C., Gibbs, R. A., Muzny, D. M., Weinstock, G. M., Adelson, D. L., Eichler, E. E., Elnitski, L., et al. (2009) · Science

Genetic and phenotypic traits in livestockGenomics and Phylogenetic Studies

Cited by 1,287

Guidelines for investigating causality of sequence variants in human disease

MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., et al. (2014) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,224

Hypoxia-inducible nuclear factors bind to an enhancer element located 3' to the human erythropoietin gene.

Semenza, G. L., Nejfelt, M. K., Chi, S. M., & Antonarakis, S. E. (1991) · Proceedings of the National Academy of Sciences

Erythropoietin and Anemia TreatmentCancer, Hypoxia, and Metabolism

Cited by 990

Down syndrome

Antonarakis, S. E., Skotko, B. G., Rafii, M. S., Strydom, A., Pape, S. E., Bianchi, D. W., Sherman, S. L., & Reeves, R. H. (2020) · Nature Reviews Disease Primers

Down syndrome and intellectual disability researchWilliams Syndrome Research

Cited by 964

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., et al. (2008) · New England Journal of Medicine

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 804

Chromosome 21 and Down syndrome: from genomics to pathophysiology

Antonarakis, S. E., Lyle, R., Dermitzakis, E. T., Reymond, A., & Deutsch, S. (2004) · Nature Reviews Genetics

Down syndrome and intellectual disability researchGenomic variations and chromosomal abnormalities

Cited by 703

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

Chen, L., Ge, B., Casale, F. P., Vasquez, L., Kwan, T., Garrido-Martín, D., Watt, S., Yan, Y., Kundu, K., Ecker, S., et al. (2016) · Cell

Genetic Associations and EpidemiologyEpigenetics and DNA Methylation

Cited by 679

GENCODE: producing a reference annotation for ENCODE

Harrow, J., Denoeud, F., Frankish, A., Reymond, A., Chen, C.-K., Chrast, J., Lagarde, J., Gilbert, J. G., Storey, R., Swarbreck, D., et al. (2006) · Genome Biology

Genomics and Phylogenetic StudiesRNA Research and Splicing

Cited by 648

A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo

Diez-Roux, G., Banfi, S., Sultan, M., Geffers, L., Anand, S., Rozado, D., Magen, A., Canidio, E., Pagani, M., Peluso, I., et al. (2011) · PLoS Biology

Developmental Biology and Gene RegulationSingle-cell and spatial transcriptomics

Cited by 638

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R. G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N. D., et al. (2011) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 462

Passive and active DNA methylation and the interplay with genetic variation in gene regulation

Gutierrez-Arcelus, M., Lappalainen, T., Montgomery, S. B., Buil, A., Ongen, H., Yurovsky, A., Bryois, J., Giger, T., Romano, L., Planchon, A., et al. (2013) · eLife

Epigenetics and DNA MethylationGenomics and Chromatin Dynamics

Cited by 440

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

Hamamy, H., Antonarakis, S. E., Cavalli-Sforza, L. L., Temtamy, S., Romeo, G., Ten Kate, L. P., Bennett, R. L., Shaw, A., Megarbane, A., van Duijn, C., et al. (2011) · Genetics in Medicine

Marriage and Family DynamicsGenomics and Rare Diseases

Cited by 345

Multi-omic measurements of heterogeneity in HeLa cells across laboratories

Liu, Y., Mi, Y., Mueller, T., Kreibich, S., Williams, E. G., Van Drogen, A., Borel, C., Frank, M., Germain, P.-L., Bludau, I., et al. (2019) · Nature Biotechnology

Advanced Proteomics Techniques and ApplicationsViral Infectious Diseases and Gene Expression in Insects

Cited by 338

Genotype-phenotype correlations in down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

Lyle, R., Béna, F., Gagos, S., Gehrig, C., Lopez, G., Schinzel, A., Lespinasse, J., Bottani, A., Dahoun, S., Taine, L., et al. (2009) · European Journal of Human Genetics

Down syndrome and intellectual disability researchGenomic variations and chromosomal abnormalities

Cited by 331

Domains of genome-wide gene expression dysregulation in Down’s syndrome

Letourneau, A., Santoni, F. A., Bonilla, X., Sailani, M. R., Gonzalez, D., Kind, J., Chevalier, C., Thurman, R., Sandstrom, R. S., Hibaoui, Y., et al. (2014) · Nature

Down syndrome and intellectual disability researchGenomics and Chromatin Dynamics

Cited by 319

Effect of predicted protein-truncating genetic variants on the human transcriptome

Rivas, M. A., Pirinen, M., Conrad, D. F., Lek, M., Tsang, E. K., Karczewski, K. J., Maller, J. B., Kukurba, K. R., DeLuca, D. S., Fromer, M., et al. (2015) · Science

Genomics and Rare DiseasesRNA Research and Splicing

Cited by 313

Abnormal RNA processing due to the exon mutation of βE-globin gene

Orkin, S. H., Kazazian, H. H., Antonarakis, S. E., Ostrer, H., Goff, S. C., & Sexton, J. P. (1982) · Nature

Hemoglobinopathies and Related DisordersRNA Research and Splicing

Cited by 298

Mutations in GJB6 cause hidrotic ectodermal dysplasia

Lamartine, J., Munhoz Essenfelder, G., Kibar, Z., Lanneluc, I., Callouet, E., Laoudj, D., Lemaître, G., Hand, C., Hayflick, S. J., Zonana, J., et al. (2000) · Nature Genetics

dental development and anomaliesGenetic and rare skin diseases.

Cited by 284

Cell-type, allelic, and genetic signatures in the human pancreatic beta cell transcriptome

Nica, A. C., Ongen, H., Irminger, J.-C., Bosco, D., Berney, T., Antonarakis, S. E., Halban, P. A., & Dermitzakis, E. T. (2013) · Genome Research

Pancreatic function and diabetesDiabetes and associated disorders

Cited by 189

Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome

Voronov, S. V., Frere, S. G., Giovedi, S., Pollina, E. A., Borel, C., Zhang, H., Schmidt, C., Akeson, E. C., Wenk, M. R., Cimasoni, L., et al. (2008) · Proceedings of the National Academy of Sciences

Down syndrome and intellectual disability researchGenetics and Neurodevelopmental Disorders

Cited by 174

Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21

Hibaoui, Y., Grad, I., Letourneau, A., Sailani, M. R., Dahoun, S., Santoni, F. A., Gimelli, S., Guipponi, M., Pelte, M. F., Béna, F., et al. (2014) · EMBO Molecular Medicine

Down syndrome and intellectual disability researchPluripotent Stem Cells Research

Cited by 170