Leaderboards/genomics and rare diseases

genomics and rare diseases

Last updated June 11, 2026

Rising Stars

New and hot

Rising Stars Researchers

1
Steven Laurie
Centro Nacional de Análisis Genómico
99
2
Fritz J. Sedlazeck
Baylor College of Medicine
80
3
Zornitza Stark
Zoos Victoria
70
4
Emma L. Baple
University of Exeter
60
5
Alban Ziegler
Columbia University Irving Medical Center
50
6
Gonzalo Benegas
University of California, Berkeley
30
7
Yun S. Song
University of California, Berkeley
20
8
Megan Michel
Max Planck - Harvard Research Center for the Archaeoscience of the Ancient Mediterranean
10

Rising Stars Papers

Insufficient data

Emerging Leaders

Gaining momentum

Emerging Leaders Researchers

1
Michael Gargano
Jackson Laboratory
99
2
Ryan S. Dhindsa
AstraZeneca (Australia)
90
3
Sairam Behera
Baylor College of Medicine
90
4
Sebastian Lunke
The University of Melbourne
80
5
Mashaal Sohail
University of Chicago
60
6
William Marciel de Souza
University of Kentucky
50
7
Margherita Ambrosini
Fondazione IRCCS Istituto Nazionale dei Tumori
40
8
Feng Xiao
Boston Children's Hospital
30
9
Evan W. Warner
University of British Columbia
20
10
Vladimir B. Seplyarskiy
Brigham and Women's Hospital
10

Emerging Leaders Papers

Insufficient data

All-Time Leaders

The canon

All-Time Leaders Researchers

1
Lisa Brooks
Unknown
99
2
Kāri Stefánsson
deCODE Genetics (Iceland)
90
3
Jason S. Carroll
Cancer Research UK
80
4
Håkon Håkonarson
Children's Hospital of Philadelphia
70
5
William DeGroat
Rutgers, The State University of New Jersey
70
6
Garrett M. Frampton
Foundation Medicine (United States)
60
7
Chris Gunter
HudsonAlpha Institute for Biotechnology
50
8
Christine M. Eng
Baylor College of Medicine
40
9
Wendy K. Chung
Boston Children's Hospital
40
10
Aravinda Chakravarti
Johns Hopkins Medicine
30

All-Time Leaders Papers

1
Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden
Genome Medicine|2017
3.7k cit.
2
The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke
Nature Genetics|2004
925 cit.
3
Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly
Blood|2017
782 cit.
4
Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes
PLoS Genetics|2009
435 cit.
5
A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma
PLoS Genetics|2017
141 cit.
6
Comprehensive assessment of estrogen receptor beta antibodies in cancer cell line models and tissue reveals critical limitations in reagent specificity
Molecular and Cellular Endocrinology|2016
112 cit.
7
Ancestry-Shift Refinement Mapping of the C6orf97-ESR1 Breast Cancer Susceptibility Locus
PLoS Genetics|2010
106 cit.
8
Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis
Nature Communications|2020
103 cit.
9
Genomic profiling informs diagnoses and treatment in vascular anomalies
Nature Medicine|2023
60 cit.
10
TET2 is a component of the estrogen receptor complex and controls 5mC to 5hmC conversion at estrogen receptor cis-regulatory regions
Cell Reports|2021
59 cit.

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