Leaderboards/Genetic and rare skin diseases.

Genetic and rare skin diseases.

Last updated July 7, 2026

Rising Stars

New and hot

Rising Stars Researchers

1
Danielle Rogner
Technical University of Munich
2
Babette J.A. Verkouteren
Maastricht University Medical Centre
3
Dmitrijs Rots
Radboud University Nijmegen
4
Paweł Pietkiewicz
Heliodor Swiecicki Clinical Hospital
5
Maia Kinnebrew
Stanford University
6
Rahime Inci
Sahlgrenska University Hospital
7
Caitlin A. Chang
University of Calgary
8
Gabriella Santa Lucia
Medical University of South Carolina
9
Norsang Lama
Stamford University Bangladesh
10
Monika Ettinger
Johannes Kepler University of Linz

Rising Stars Papers

1
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
The American Journal of Human Genetics|2024
26 cit.
2
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
The American Journal of Human Genetics|2024
20 cit.
3
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.
4
LAMA: Lesion-Aware Mixup Augmentation for Skin Lesion Segmentation
Journal of Imaging Informatics in Medicine|2024
5 cit.
5
Unmet Needs in Darier’s Disease from a Patient’s Perspective: Lessons Learnt from the German Registry
Acta Dermato Venereologica|2024
3 cit.
6
“One blade, two cuts?” A multidisciplinary survey investigating practice variability of scalpel blade change for simultaneous excision of multiple skin lesions in the same patient
International Journal of Dermatology|2024
3 cit.
7
Patients with Darier disease have an increased risk of keratinocyte carcinoma: a Swedish registry-based nationwide cohort study
Orphanet Journal of Rare Diseases|2024
2 cit.
8
Ultraviolet-induced Fluorescence Patterns in Psoriasis: Insights from a Large International Cohort Study
Dermatology Practical & Conceptual|2025
2 cit.
9
Hedgehog Pathway and Programmed Cell Death Protein-1 Inhibitors for Advanced Basal Cell Carcinoma
Case Reports in Dermatology|2024
1 cit.
10
Imiquimod Cream Preceded by Superficial Curettage vs Surgical Excision for Nodular Basal Cell Carcinoma
JAMA Dermatology|2025
1 cit.

Emerging Leaders

Gaining momentum

Emerging Leaders Researchers

1
Samantha C. Gordon
Northwestern University
2
Lee F. Peng
Temple University
3
Laura M. McDonell
Children's Hospital of Eastern Ontario
4
Ya‐Chieh Hsu
Harvard University
5
Jakob D. Wikström
Karolinska University Hospital
6
Poonkiat Suchonwanit
Mahidol University
7
Ron J. Feldman
Emory University
8
Caroline Hutter
St Anna Children's Hospital
9
B. Cosgun
Maastricht University Medical Centre
10
Young-Goo Han
St. Jude Children's Research Hospital

Emerging Leaders Papers

1
Primary cilia control translation and the cell cycle in medulloblastoma
Genes & Development|2022
38 cit.
2
Epidemiological, Clinical, and Trichoscopic Features of Syphilitic Alopecia: A Retrospective Analysis and Systematic Review
Frontiers in Medicine|2022
17 cit.
3
A kinase-independent function of cyclin-dependent kinase 6 promotes outer radial glia expansion and neocortical folding
Proceedings of the National Academy of Sciences|2022
16 cit.
4
Topical oxygen treatment relieves pain from hard-to-heal leg ulcers and improves healing: a case series
Journal of Wound Care|2022
14 cit.
5
Darier disease is associated with neurodegenerative disorders and epilepsy
Scientific Reports|2024
12 cit.
6
Sleep quality in men with androgenetic alopecia
Sleep And Breathing|2022
11 cit.
7
BRAFV600E induces key features of LCH in iPSCs with cell type–specific phenotypes and drug responses
Blood|2024
11 cit.
8
Identification of Novel Glycans in the Mucus Layer of Shark and Skate Skin
International Journal of Molecular Sciences|2023
10 cit.
9
Intramuscular Corticosteroid Therapy in the Treatment of Alopecia Areata: A Time-to-Event Analysis
DOAJ (DOAJ: Directory of Open Access Journals)|2022
8 cit.
10
Dantrolene corrects cellular disease features of Darier disease and may be a novel treatment
EMBO Molecular Medicine|2024
6 cit.

Current Senior Leaders

Established & currently active

Current Senior Leaders Researchers

1
Philip A. Beachy
Stanford University
2
Frédéric J. de Sauvage
Gene Therapy Laboratory
3
Rudolf Happle
University Medical Center Freiburg
4
Alain Hovnanian
Inserm
5
Andrzej A. Dlugosz
University of Michigan
6
Arnon Rosenthal
Alector (United States)
7
Ilona J. Frieden
University of California, San Francisco
8
Anthony E. Oro
Stanford Medicine
9
Martín C. Mihm
Harvard University
10
Jin Jiang
Southwestern Medical Center

Current Senior Leaders Papers

1
Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function
Nature|1996
3.1k cit.
2
The histogenesis and biologic behavior of primary human malignant melanomas of the skin.
PubMed|1969
2.1k cit.
3
Regulation of the Hedgehog and Wingless signalling pathways by the F-box/WD40-repeat protein Slimb
Nature|1998
1.7k cit.
4
Mice Lacking α-Synuclein Display Functional Deficits in the Nigrostriatal Dopamine System
Neuron|2000
1.7k cit.
5
Inhibition of Hedgehog signaling by direct binding of cyclopamine to Smoothened
Genes & Development|2002
1.5k cit.
6
Cholesterol Modification of Hedgehog Signaling Proteins in Animal Development
Science|1996
1.4k cit.
7
Activating Smoothened mutations in sporadic basal-cell carcinoma
Nature|1998
1.3k cit.
8
Effects of oncogenic mutations in Smoothened and Patched can be reversed by cyclopamine
Nature|2000
1.3k cit.
9
Stimulation of megakaryocytopoiesis and thrombopoiesis by the c-Mpl ligand
Nature|1994
1.3k cit.
10
GDNF: a Potent Survival Factor for Motoneurons Present in Peripheral Nerve and Muscle
Science|1994
1.3k cit.

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