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Nature Genetics|October 2, 2019
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndromePierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, et al.
Nature Genetics|February 9, 2020
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndromePierre Vabres, Arthur Sorlin, Stanislav S Kholmanskikh, et al.
European Journal of Human Genetics : EJHG|April 26, 2019
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive testsChristel Thauvin-Robinet, Julien Thevenon, Sophie Nambot, et al.
The Journal of Investigative Dermatology|December 25, 2022
PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to MelanomaSatyamaanasa Polubothu, Nicole Bender, Siobhan Muthiah, et al.
Cell Stem Cell|January 1, 2019
Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3Florian Villegas, Daphné Lehalle, Daniela Mayer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 2, 2018
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrumVictoria E R Parker, Kim M Keppler-Noreuil, Laurence Faivre, et al.
Prenatal Diagnosis|March 11, 2015
Severe X-linked chondrodysplasia punctata in nine new female fetusesMathilde Lefebvre, Fabienne Dufernez, Ange-Line Bruel, et al.
Journal of the American Academy of Dermatology|July 21, 2010
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009Vinzenz Oji, Gianluca Tadini, Masashi Akiyama, et al.
JAMA Dermatology|March 19, 2020
Factors Associated With Short-term Relapse in Patients With Pemphigus Who Receive Rituximab as First-line Therapy: A Post Hoc Analysis of a Randomized Clinical TrialClaire Mignard, Maud Maho-Vaillant, Marie-Laure Golinski, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2019
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndromeThomas Besnard, Natacha Sloboda, Alice Goldenberg, et al.
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