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Trials|December 19, 2019
Topical sirolimus 0.1% for treating cutaneous microcystic lymphatic malformations in children and adults (TOPICAL): protocol for a multicenter phase 2, within-person, randomized, double-blind, vehicle-controlled clinical trialSophie Leducq, Agnès Caille, Sébastien Barbarot, et al.
JAMA Dermatology|May 28, 2025
Characteristics and Therapeutic Strategies for Diffuse Cutaneous MastocytosisPaula Pernea, Cecile Méni, Julien Rossignol, et al.
Journal of the American Academy of Dermatology|July 31, 2012
Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a familyEve Maubec, Valérie Chaudru, Hamida Mohamdi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 20, 2018
2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseasesAnge-Line Bruel, Antonio Vitobello, Frédéric Tran Mau-Them, et al.
Clinical Genetics|April 16, 2020
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complicationsAlison Foster, Basile Chalot, Thalia Antoniadi, et al.
American Journal of Medical Genetics. Part A|December 15, 2018
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritanceDaphné Lehalle, Umut Altunoglu, Ange-Line Bruel, et al.
Journal of the American Academy of Dermatology|October 16, 2016
The scalp hair collar and tuft signs: A retrospective multicenter study of 78 patients with a systematic review of the literatureDidier Bessis, Michèle Bigorre, Nausicaa Malissen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 3, 2017
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysisSophie Nambot, Julien Thevenon, Paul Kuentz, et al.
The Journal of Investigative Dermatology|January 19, 2016
Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal MelanocytosisAnna C Thomas, Zhiqiang Zeng, Jean-Baptiste Rivière, et al.
Nature Genetics|October 16, 2019
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndromePierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, et al.
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