Topic · Genetic and rare skin diseases.
Most cited papers in Genetic and rare skin diseases.
What are the most cited papers in Genetic and rare skin diseases.?
The most cited paper in Genetic and rare skin diseases. is "Altered Neural Cell Fates and Medulloblastoma in Mouse patched Mutants" (Lisa V. Goodrich, Ljiljana Milenković, Kay M. Higgins et al., 1997), with 1,723 citations. Next come "Inhibition of Hedgehog signaling by direct binding of cyclopamine to Smoothened" (1,490) and "Activating Smoothened mutations in sporadic basal-cell carcinoma" (1,349).
Showing 50 of 99 papers. Every paper with more than 322 citations is listed.
| # | Paper | ||
|---|---|---|---|
| 1 | Altered Neural Cell Fates and Medulloblastoma in Mouse patched Mutants Lisa V. Goodrich, Ljiljana Milenković, Kay M. Higgins et al. · Science | 22 Aug 1997 | 1,723 |
| 2 | Inhibition of Hedgehog signaling by direct binding of cyclopamine to Smoothened James Chen, Jussi Taipale, Michael K. Cooper et al. · Genes & Development | Nov 2002 | 1,490 |
| 3 | Activating Smoothened mutations in sporadic basal-cell carcinoma Jingwu Xie, Maximilien Murone, Shiuh-Ming Luoh et al. · Nature | 1998 | 1,349 |
| 4 | Effects of oncogenic mutations in Smoothened and Patched can be reversed by cyclopamine Jussi Taipale, James Chen, Michael K. Cooper et al. · Nature | Aug 2000 | 1,328 |
| 5 | The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog Donna M. Stone, Mary Hynes, Mark P. Armanini et al. · Nature | Nov 1996 | 1,121 |
| 6 | Multiple Nevoid Basal-Cell Epithelioma, Jaw Cysts and Bifid Rib Robert J. Gorlin, Robert W. Goltz · New England Journal of Medicine | 5 May 1960 | 1,035 |
| 7 | Treatment of Medulloblastoma with Hedgehog Pathway Inhibitor GDC-0449 Charles M. Rudin, Christine L. Hann, John Laterra et al. · New England Journal of Medicine | 2 Sep 2009 | 1,021 |
| 8 | Small molecule modulation of Smoothened activity James Chen, Jussi Taipale, Keith E. Young et al. · Proceedings of the National Academy of Sciences | 21 Oct 2002 | 1,009 |
| 9 | Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification Jo‐David Fine et al. · Journal of the American Academy of Dermatology | 29 Mar 2014 | 949 |
| 10 | The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB Jo‐David Fine, Robin A.J. Eady, Eugene A. Bauer et al. · Journal of the American Academy of Dermatology | 19 Apr 2008 | 940 |
| 11 | Classification of the types of androgenetic alopecia (common baldness) occurring in the female sex Erich R. Ludwig · British Journal of Dermatology | Sep 1977 | 883 |
| 12 | Teratogen-Mediated Inhibition of Target Tissue Response to Shh Signaling Michael K. Cooper, Jeffery A. Porter, Keith E. Young et al. · Science | 5 Jun 1998 | 854 |
| 13 | Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility Cristina Has et al. · British Journal of Dermatology | 4 Feb 2020 | 813 |
| 14 | Mutations in SUFU predispose to medulloblastoma Michael D. Taylor, Ling Liu, Corey Raffel et al. · Nature Genetics | 17 Jun 2002 | 806 |
| 15 | Medulloblastoma Growth Inhibition by Hedgehog Pathway Blockade David Monty Berman, Sunil S. Karhadkar, Andrew R. Hallahan et al. · Science | 29 Aug 2002 | 803 |
| 16 | Alopecia areata C. Herbert Pratt, Lloyd E. King, Andrew Guy Messenger et al. · Nature Reviews Disease Primers | 15 Mar 2017 | 785 |
| 17 | The Incidence of Birthmarks in the Neonate Alvin H. Jacobs, Robert G. Walton · PEDIATRICS | Aug 1976 | 775 |
| 18 | Identification of a Palmitic Acid-modified Form of Human Sonic hedgehog R. Blake Pepinsky, Chenhui Zeng, Dingyi Wen et al. · Journal of Biological Chemistry | May 1998 | 764 |
| 19 | Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti Asma Smahi et al. · Nature | May 2000 | 752 |
| 20 | Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease Anavaj Sakuntabhai, Víctor L. Ruiz‐Pérez, Simon A. Carter et al. · Nature Genetics | Mar 1999 | 742 |
| 21 | Basal Cell Carcinomas in Mice Overexpressing Sonic Hedgehog Anthony E. Oro, Kay M. Higgins, Zhilan Hu et al. · Science | 2 May 1997 | 717 |
| 22 | Activation of the transcription factor Gli1 and the Sonic hedgehog signalling pathway in skin tumours Nadia Dahmane, Jeffrey D. Lee, Perry Robins et al. · Nature | 23 Oct 1997 | 640 |
| 23 | Bullous pemphigoid and pemphigus vulgaris--incidence and mortality in the UK: population based cohort study Sinéad Langan, Liam L Smeeth, Ruth Eleanor Hubbard et al. · BMJ | 9 Jul 2008 | 632 |
| 24 | Aplasia cutis congenita: A clinical review and proposal for classification Ilona J. Frieden · Journal of the American Academy of Dermatology | Apr 1986 | 621 |
| 25 | Skin scarring Ardeshir Bayat, D A McGrouther, M W J Ferguson · BMJ | 9 Jan 2003 | 614 |
| 26 | Alopecia Areata Amos Gilhar, Amos Etzioni, Ralf Paus · New England Journal of Medicine | 18 Apr 2012 | 599 |
| 27 | BRCA1 dysfunction in sporadic basal-like breast cancer Nicholas C. Turner, J. S. Reis-Filho, Anne‐Marie Russell et al. · Oncogene | 2 Oct 2006 | 576 |
| 28 | Medulloblastoma: clinicopathological correlates of SHH, WNT, and non-SHH/WNT molecular subgroups David W. Ellison, James Dalton, Mehmet Koçak et al. · Acta Neuropathologica | 25 Jan 2011 | 567 |
| 29 | Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease Zhilan Hu, Jeannette M. Bonifas, J.A. Beech et al. · Nature Genetics | 2000 | 566 |
| 30 | Interfering with Resistance to Smoothened Antagonists by Inhibition of the PI3K Pathway in Medulloblastoma Silvia Buonamici et al. · Science Translational Medicine | 29 Sep 2010 | 561 |
| 31 | Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin Rudolf Happle · Journal of the American Academy of Dermatology | Apr 1987 | 560 |
| 32 | UV-induced DNA damage, repair, mutations and oncogenic pathways in skin cancer Frank R. de Gruijl, Henk J. van Kranen, Leon H.F. Mullenders · Journal of Photochemistry and Photobiology B Biology | Oct 2001 | 547 |
| 33 | SUBCUTANEOUS ANGIOLYMPHOID HYPERPLASIA WITH EOSINOPHILIA George Wells, Ian W. Whimster · British Journal of Dermatology | 1969 | 543 |
| 34 | Alopecia areata Lauren C. Strazzulla, Eddy Hsi Chun Wang, Lorena Avila et al. · Journal of the American Academy of Dermatology | 11 Dec 2017 | 538 |
| 35 | Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation Julien Haroche, Fleur Cohen Aubart, Jean‐François Emile et al. · Blood | 22 Dec 2012 | 538 |
| 36 | Itraconazole, a Commonly Used Antifungal that Inhibits Hedgehog Pathway Activity and Cancer Growth James Kim, Jean Yuh Tang, Ruoyu Gong et al. · Cancer Cell | Apr 2010 | 529 |
| 37 | A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-gamma (NEMO) Jonathan Zonana, Melissa E. Elder, Lynda C. Schneider et al. · The American Journal of Human Genetics | Dec 2000 | 526 |
| 38 | Mosaicism in Human Skin Rudolf Happle · Archives of Dermatology | Nov 1993 | 526 |
| 39 | Quality of life of patients with keloid and hypertrophic scarring Oliver Bock, Gerhard Schmid‐Ott, Peter Malewski et al. · Archives of Dermatological Research | 9 Mar 2006 | 516 |
| 40 | Malignant transformation of oral leukoplakia: a systematic review of observational studies Saman Warnakulasuriya, Anura Ariyawardana · Journal of Oral Pathology and Medicine | 20 Jul 2015 | 508 |
| 41 | The odontogenic keratocyst Robert B. Brannon · Oral Surgery Oral Medicine Oral Pathology | Feb 1977 | 499 |
| 42 | Darier-White disease: A review of the clinical features in 163 patients SUSAN M. BURGE, JOHN D. WILKINSON · Journal of the American Academy of Dermatology | Jul 1992 | 491 |
| 43 | Mahalanobis distance Geoffrey John McLachlan · Resonance | Jun 1999 | 481 |
| 44 | Hair follicle dermal papilla cells at a glance Ryan R. Driskell, Carlos Clavel, Michael Rendl et al. · Journal of Cell Science | 28 Mar 2011 | 466 |
| 45 | Epidermolysis bullosa and the risk of life-threatening cancers: The National EB Registry experience, 1986-2006 Jo‐David Fine, Lorraine Johnson, Madeline S. Weiner et al. · Journal of the American Academy of Dermatology | 21 Nov 2008 | 463 |
| 46 | Neurocutaneous melanosis: Definition and review of the literature Julie N. Kadonaga, Ilona J. Frieden · Journal of the American Academy of Dermatology | May 1991 | 459 |
| 47 | Melasma: a clinical and epidemiological review Ana Carolina Handel, Luciane Donida Bartoli Miot, Hélio Amante Miot · Anais Brasileiros de Dermatologia | 30 Aug 2014 | 458 |
| 48 | NEMO/IKKγ-Deficient Mice Model Incontinentia Pigmenti Marc Schmidt‐Supprian, Wilhelm Bloch, Gilles Courtois et al. · Molecular Cell | Jun 2000 | 441 |
| 49 | Structural Grading of Foveal Hypoplasia Using Spectral-Domain Optical Coherence Tomography Mervyn G. Thomas, Anil Kumar, Sarim Mohammad et al. · Ophthalmology | May 2011 | 437 |
| 50 | Keloids: The paradigm of skin fibrosis — Pathomechanisms and treatment Jonathan P. Andrews, Jaana Marttala, Edward J. Macarak et al. · Matrix Biology | 2 Feb 2016 | 434 |
Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for a field when OpenAlex files it under one of the field's topics; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.