Stylianos E. Antonarakis

Also affiliated with Swiss Finance Institute

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 1%percentile

49.8Author DataRank

Indexed papers

7in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 7 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Nature(2007)10.1038/nature05874

Top 1%

12.9DataRank

Top 1%5277 citations

J Stamatoyannopoulos, Simon G. Gregory, T Gingeras, Eoghan Harrington, Zhiping Weng +286 more

Papers

Driven by 17 papers — median percentile 98. Top paper: “Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project”.

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Nature(2007)10.1038/nature05874

Top 1%

12.9DataRank

Top 1%5277 citations

J Stamatoyannopoulos, Simon G. Gregory, T Gingeras, Eoghan Harrington, Zhiping Weng +286 more

Initial sequencing and comparative analysis of the mouse genome

Nature(2002)10.1038/nature01262

Top 1%

12.6DataRank

Top 1%7282 citations

Robert H. Waterston, Kerstin Lindblad‐Toh, Julien Lagarde, Josep F. Abril, PANKAJ AGARWAL +189 more

The complete sequence of a human genome

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.05.26.445798

Top 2%

8.2DataRank

Top 2%182 citations

Sergey Koren, Arang Rhie, Allison A. Regier, Andrey V. Bzikadze, Alla Mikheenko +97 more

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

Genome Research(2017)10.1101/gr.213611.116

Top 2%

8.0DataRank

Top 2%1305 citations

Thibaut Hourlier, Lon Phan, Hsiu-Chuan Chen, Paul A. Kitts, Terence D. Murphy +37 more

The complete sequence of a human genome

Science(2022)10.1126/science.abj6987

Top 3%

7.0DataRank

Top 3%3361 citations

Sergey Koren, Arang Rhie, Allison A. Regier, Andrey V. Bzikadze, Alla Mikheenko +94 more

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Genetics in Medicine(2021)10.1038/s41436-021-01232-8

N/A

1.3DataRank · unranked

49 citations

Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra +92 more

Landscape of transcription in human cells

Nature(2012)10.1038/nature11233

N/A

1.3DataRank · unranked

5354 citations

Qi Dai, Angelika Merkel, Timo Lassmann, Shinichi Morishita, Andrea Tanzer +91 more

Short arms of human acrocentric chromosomes and the completion of the human genome sequence

Genome Research(2022)10.1101/gr.275350.121

Top 17%

1.2DataRank

Top 17%34 citations

Stylianos E. Antonarakis

Down syndrome

Nature Reviews Disease Primers(2020)10.1038/s41572-019-0143-7

N/A

1.0DataRank · unranked

914 citations

Brian G. Skotko, Michael S. Rafii, André Strydom, Sarah E. Pape, Diana W. Bianchi +3 more

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

Science(2015)10.1126/science.1261877

N/A

0.877DataRank · unranked

345 citations

Matti Pirinen, Donald F. Conrad, Monkol Lek, Emily K. Tsang, Konrad J. Karczewski +206 more

Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2020.12.014

N/A

0.677DataRank · unranked

90 citations

Sen Zhao, Angad Jolly, Lianlei Wang, Hongxin Pan, Jian Yuan +72 more

Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Genetics in Medicine(2022)10.1016/j.gim.2022.05.009

N/A

0.416DataRank · unranked

15 citations

Jinwei Zhang, Thomas Besnard, Alfonso Caro‐Llopis, Xue Zeng, Stephanie M. Robert +75 more

Approaching an Error-Free Diploid Human Genome Using a Support-Based Validation Framework

10.1101/2025.08.01.667781

N/A

0.208DataRank · unranked

3 citations

Zhuo Huang, Changjun Shao, Shuming Guo, Yiji Yang, Xinyao Yu +12 more

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Journal of Medical Genetics(2021)10.1136/jmedgenet-2021-107751

N/A

0DataRank · unranked

30 citations

Margot A. Cousin, Nikita R. Dsouza, Thomas D. Challman, Karen E. Wain, Zöe Powis +67 more

Haig H. Kazazian, Jr. (1937–2022)

Genome Research(2022)10.1101/gr.276712.122

N/A

0DataRank · unranked

0 citations

Stuart H. Orkin, Stylianos E. Antonarakis

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.01.006

N/A

0DataRank · unranked

6 citations

Marisol Cortés, Periklis Makrythanasis, Mohnish Suri, Alexander M. Taylor, Jennifer A. Sullivan +44 more

DNAH5 Mutations Are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects

MPG.PuRe (Max Planck Society)(2020)10.17615/9tbv-k579

N/A

0DataRank · unranked

18 citations

Stylianos E. Antonarakis, Nada Hornef, Ralf Sudbrak, Johannes H. Wildhaber, Marcus P. Kennedy +15 more

Stylianos E. Antonarakis

Indexed papers

Top data-sharing exemplar

Papers