Leaderboards/Genetic Syndromes and Imprinting

Genetic Syndromes and Imprinting

Last updated July 15, 2026

Rising Stars

Fresh ink, massive impact

Researchers

1
Elliot Sollis
European Bioinformatics Institute
2
Longda Jiang
New York Genome Center
3
Niek de Klein
Wellcome Sanger Institute
4
Julien Bryois
Roche (Switzerland)
5
Johann S. Hawe
Illumina (United States)
6
Jonas A. Gustafson
University of Washington
7
Tatsuki Urakawa
National Center For Child Health and Development
8
Aloysius Y. T. Low
University of Pennsylvania
9
Sung Eun Wang
Hallym Polytechnic University
10
Vahid Akbari
University of British Columbia

Papers

1
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation
Genome Research|2024
77 cit.
2
Systematic reconstruction of molecular pathway signatures using scalable single-cell perturbation screens
Nature Cell Biology|2025
27 cit.
3
Publication in Clinical Epigenetics (2024) [13 citations, W4403150841]
Clinical Epigenetics|2024
13 cit.
4
Publication in Journal of Medical Genetics (2024) [3 citations, W4404318525]
Journal of Medical Genetics|2024
3 cit.
5
Publication in Genome Medicine (2025) [3 citations, W4416310483]
Genome Medicine|2025
3 cit.
6
Dysregulation of Synaptic and Developmental Transcriptomic/Proteomic Profiles upon Depletion of MUNC18-1
UNC Libraries|2024
0 cit.
7
Publication in Journal of the Endocrine Society (2024) [W4403153860]
Journal of the Endocrine Society|2024
0 cit.
8
Publication in Clinical Epigenetics (2025) [W4411149213]
Clinical Epigenetics|2025
0 cit.
9
Publication in Bioinformatics (2026) [W4417524423]
Bioinformatics|2026
0 cit.
10
Publication in Clinical Epigenetics (2026) [W7136136655]
Clinical Epigenetics|2026
0 cit.

Emerging Leaders

Drafting the new consensus

Researchers

1
Laura W. Harris
European Bioinformatics Institute
2
Pedro Silva
Universidade do Porto
3
Yīmíng Bào
Beijing Institute of Genomics
4
Jennifer M. Kalish
Children's Hospital of Philadelphia
5
Wei Xie
IE University
6
Anders Mälarstig
Karolinska Institutet
7
Jill L. Silverman
Mining Institute
8
Feizhuo Hu
Beijing Advanced Sciences and Innovation Center
9
Shelin Adam
BC Children's Hospital
10
Siddharth Banka
University of Manchester

Papers

1
The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource
Nucleic Acids Research|2022
1.7k cit.
2
The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity
Nucleic Acids Research|2024
340 cit.
3
Ultrasensitive Ribo-seq reveals translational landscapes during mammalian oocyte-to-embryo transition and pre-implantation development
Nature Cell Biology|2022
193 cit.
4
Translatome and transcriptome co-profiling reveals a role of TPRXs in human zygotic genome activation
Science|2022
184 cit.
5
OBOX regulates mouse zygotic genome activation and early development
Nature|2023
142 cit.
6
An ASO therapy for Angelman syndrome that targets an evolutionarily conserved region at the start of the <i>UBE3A-AS</i> transcript
Science Translational Medicine|2023
93 cit.
7
CROST: a comprehensive repository of spatial transcriptomics
Nucleic Acids Research|2023
71 cit.
8
NR5A2 connects zygotic genome activation to the first lineage segregation in totipotent embryos
Cell Research|2023
53 cit.
9
GenBase: A Nucleotide Sequence Database
Genomics Proteomics & Bioinformatics|2024
53 cit.
10
Evaluation of circulating plasma proteins in breast cancer using Mendelian randomisation
Nature Communications|2023
50 cit.

Current Senior Leaders

Wrote the book, still writing it

Researchers

1
En Li
First Affiliated Hospital of Xi'an Jiaotong University
2
David Reich
Broad Institute
3
Rudolf Jaenisch
Whitehead Institute for Biomedical Research
4
Andrew P. Feinberg
Johns Hopkins University
5
Wolf Reik
F5 Networks (United States)
6
M. Azim Surani
University of Cambridge
7
Val C. Sheffield
University of Iowa
8
Gavin Kelsey
Babraham Institute
9
Arthur L. Beaudet
Lunar and Planetary Institute
10
Manel Esteller
Institució Catalana de Recerca i Estudis Avançats

Papers

1
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
Analytical Biochemistry|1983
25.2k cit.
2
Principal components analysis corrects for stratification in genome-wide association studies
Nature Genetics|2006
10.7k cit.
3
DNA Methyltransferases Dnmt3a and Dnmt3b Are Essential for De Novo Methylation and Mammalian Development
Cell|1999
6.1k cit.
4
Population Structure and Eigenanalysis
PLoS Genetics|2006
5.7k cit.
5
Histone H3K27ac separates active from poised enhancers and predicts developmental state
Proceedings of the National Academy of Sciences|2010
4.5k cit.
6
mRNA-Seq whole-transcriptome analysis of a single cell
Nature Methods|2009
4k cit.
7
Targeted mutation of the DNA methyltransferase gene results in embryonic lethality
Cell|1992
4k cit.
8
Epigenetic differences arise during the lifetime of monozygotic twins
Proceedings of the National Academy of Sciences|2005
3.6k cit.
9
One-Step Generation of Mice Carrying Mutations in Multiple Genes by CRISPR/Cas-Mediated Genome Engineering
Cell|2013
3.6k cit.
10
Ancient Admixture in Human History
Genetics|2012
3.2k cit.

Reagents for Genetic Syndromes and Imprinting

Citation-validated products used in this field

🔥 Trending

Gaining adoption fast

⭐ Top Rated

Best all-around

ProteintechEvidence 64

ARL13B Polyclonal antibody

Cited in 10 papers
#17711-1-AP
View Evidence →
Cell Signaling Technology

UBE4B (F4F3K) Rabbit Monoclonal Antibody

Cited in 10 papers
#17673$161,376
View Evidence →
Cell Signaling TechnologyEvidence 64

C-Reactive Protein (D1N1U) Rabbit Monoclonal Antibody

Cited in 8 papers
#14316$161,351
View Evidence →

🌟 All-Time

Most validated

Cell Signaling Technology

MAL (F6X1A) Rabbit Monoclonal Antibody

Cited in 10 papers
#20017$161,376
View Evidence →
Cell Signaling TechnologyEvidence 64

LIMP-2/SCARB2 (E2Z5F) Rabbit Monoclonal Antibody

Cited in 10 papers
#27960$160,351
View Evidence →
Cell Signaling Technology

PARP2 (F3Z6Z) Rabbit Monoclonal Antibody

Cited in 10 papers
#20009$161,376
View Evidence →