Leaderboards/Congenital limb and hand anomalies

Congenital limb and hand anomalies

Last updated July 7, 2026

Rising Stars

New and hot

Rising Stars Researchers

1
Lila Allou
NIHR Imperial Biomedical Research Centre
2
Mitchell R. Vollger
University of Utah
3
Aki Ushiki
University of California, San Francisco
4
Dmitrijs Rots
Radboud University Nijmegen
5
Mustafa Elsagair
Aljazeera Hospital
6
Jianjian Zhu
Nantong University
7
Ida Neergård Sletten
Oslo University Hospital
8
Anne F. J. Janssen
Radboud University Nijmegen
9
Can Aztekin
Max Planck Society
10
Luis F de Castro
National Institutes of Health

Rising Stars Papers

1
DNA-m6A calling and integrated long-read epigenetic and genetic analysis with <i>fibertools</i>
Genome Research|2024
49 cit.
2
Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition
Nature Genetics|2025
32 cit.
3
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
The American Journal of Human Genetics|2024
26 cit.
4
RANKL inhibition reduces lesional cellularity and Gαs variant expression and enables osteogenic maturation in fibrous dysplasia
Bone Research|2024
20 cit.
5
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
The American Journal of Human Genetics|2024
20 cit.
6
Transcriptomic Signature and Pro-Osteoclastic Secreted Factors of Abnormal Bone-Marrow Stromal Cells in Fibrous Dysplasia
Cells|2024
11 cit.
7
Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality
Cell Reports|2024
10 cit.
8
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global <scp>DNA</scp> methylation profile
Clinical Genetics|2024
7 cit.
9
Prevalence, infant outcomes and gestational risk factors for transverse reduction deficiencies at or above the wrist: a population-based study
Journal of Hand Surgery (European Volume)|2024
2 cit.
10
<i>rustybam:</i> a composable toolkit for alignment analysis and visualization with <i>SafFire</i>
bioRxiv (Cold Spring Harbor Laboratory)|2026
2 cit.

Emerging Leaders

Gaining momentum

Emerging Leaders Researchers

1
Daniel E. Conway
The Ohio State University
2
Mark Allison
University of Michigan–Flint
3
Louise S. Bicknell
University of Otago
4
W Khan
Society of Interventional Radiology
5
Gönül Acar
Istanbul University
6
Yorick Gitton
Inserm
7
Khaled Elderbag
Misurata University
8
Shanlin Chen
Capital Medical University
9
Elena Domínguez-Garrido
Universidad de La Rioja
10
Jee Woong Choi
Ajou University

Emerging Leaders Papers

1
Progerin-expressing endothelial cells are unable to adapt to shear stress
Biophysical Journal|2022
22 cit.
2
Chromatin condensation regulates endothelial cell adaptation to shear stress
Molecular Biology of the Cell|2022
21 cit.
3
Impact of Pediatric Alopecia Areata on Quality of Life of Patients and Their Family Members: A Nationwide Multicenter Questionnaire Study
Annals of Dermatology|2022
19 cit.
4
α–Catenin-dependent vinculin recruitment to adherens junctions is antagonistic to focal adhesions
Molecular Biology of the Cell|2022
14 cit.
5
Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome
European Journal of Human Genetics|2022
10 cit.
6
Clinical and Epidemiological Features of Scaphoid Fracture Nonunion: A Hospital‐Based Study in Beijing, China
Orthopaedic Surgery|2022
8 cit.
7
Axial Fluorine-Modulated M-N <sub>4</sub> -C SACs for Electrochemical CO <sub>2</sub> Reduction: Mechanistic Insights into Ligand Interaction Strength
Langmuir|2025
7 cit.
8
Epidemiology and survival analysis of Merkel cell carcinoma in South Korea: a nationwide, multicenter retrospective study
International Journal of Dermatology|2023
6 cit.
9
Quantitative Analysis of Deformity in Digital Model of Congenital Radioulnar Synostosis
Orthopaedic Surgery|2023
5 cit.
10
A novel IRF2BPL gene mutation manifesting as a broad spectrum of neurological disorders: a case report
BMJ Neurology Open|2023
4 cit.

Current Senior Leaders

Established & currently active

Current Senior Leaders Researchers

1
Clifford J. Tabin
Harvard University
2
Andrew P. McMahon
California Institute of Technology
3
Gary Struhl
Columbia University
4
Michael Dean
National Cancer Institute
5
A. Bale
Yale University
6
Maximilian Muenke
National Institutes of Health
7
Philip A. Beachy
Stanford University
8
John F. Fallon
Ollscoil na Gaillimhe – University of Galway
9
Alexandra L. Joyner
Memorial Sloan Kettering Cancer Center
10
Stefan Mundlos
Humboldt-Universität zu Berlin

Current Senior Leaders Papers

1
Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function
Nature|1996
3.1k cit.
2
Genetic Restriction of HIV-1 Infection and Progression to AIDS by a Deletion Allele of the <i>CKR5</i> Structural Gene
Science|1996
2.5k cit.
3
Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions
Cell|2015
2.3k cit.
4
Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity
Cell|1993
2.2k cit.
5
Mutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome
Cell|1996
2k cit.
6
Regulation of Rate of Cartilage Differentiation by Indian Hedgehog and PTH-Related Protein
Science|1996
2k cit.
7
Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation
Genes & Development|1999
1.8k cit.
8
Regulation of the Hedgehog and Wingless signalling pathways by the F-box/WD40-repeat protein Slimb
Nature|1998
1.7k cit.
9
The Wnt-1 (int-1) proto-oncogene is required for development of a large region of the mouse brain
Cell|1990
1.5k cit.
10
Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia
Cell|1997
1.5k cit.

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