Nicole Cesarato

University of Bonn — Germany

Medicine · Health Sciences

5h-index135citations21works0.62yr avg
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Research Topics

Hair Growth and Disorders(8), Skin and Cellular Biology Research(8), RNA Research and Splicing(4), Wnt/β-catenin signaling in development and cancer(3), Endoplasmic Reticulum Stress and Disease(2)

Publications21 total

<b>A recurrent variant in two patients with</b><b> </b><b><i>EMP2</i></b><b>-nEDD</b>
Figshare·2026Open Access
<b>A recurrent variant in two patients with</b><b> </b><b><i>EMP2</i></b><b>-nEDD</b>
Figshare·2026Open Access
A recurrent variant in two patients with <i>EMP2</i> -nEDD
British Journal of Dermatology·2026
Bi‐Allelic <i>DSG1</i> Splice‐Site Variant Identified in a Family With Non‐Syndromic Striate Palmoplantar Keratoderma
The Journal of Dermatology·2025Open Access
Erster ostasiatischer Fall des Syndroms der unkämmbaren Haare
JDDG Journal der Deutschen Dermatologischen Gesellschaft·2024Open Access
First East Asian case of uncombable hair syndrome
JDDG Journal der Deutschen Dermatologischen Gesellschaft·2024Open Access
A nonsense variant in <i>KRT31</i> is associated with autosomal dominant monilethrix
British Journal of Dermatology·2024· 4 cited
Novel pathogenic variants in <scp><i>HR</i></scp> underlie atrichia with papular lesions in a cohort of 10 families
The Journal of Dermatology·2024· 1 cited
Short anagen hair syndrome: association with mono- and biallelic variants in <i>WNT10A</i> and a genetic overlap with male pattern hair loss
British Journal of Dermatology·2023· 11 citedOpen Access
A <i>TMC8</i> splice variant causes epidermodysplasia verruciformis in a Pakistani family
Clinical and Experimental Dermatology·2023· 3 cited
Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals
JAMA Dermatology·2022· 15 citedOpen Access
Phänotypische Vielfalt bei Varianten im <i>TP63</i>‐Gen
JDDG Journal der Deutschen Dermatologischen Gesellschaft·2022Open Access
Phenotype diversity associated with <i>TP63</i> mutations
JDDG Journal der Deutschen Dermatologischen Gesellschaft·2022· 1 citedOpen Access
A new <i>de novo</i> heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility
Clinical and Experimental Dermatology·2022
Cole disease due to a novel pathogenic variant in the <i>ENPP1</i> gene
Journal of the European Academy of Dermatology and Venereology·2022· 2 citedOpen Access
Four hypotrichosis families with mutations in the gene <scp><i>LSS</i></scp> presenting with and without neurodevelopmental phenotypes
American Journal of Medical Genetics Part A·2021· 16 citedOpen Access
Additional causal <i>SNRPE</i> mutations in hereditary hypotrichosis simplex
British Journal of Dermatology·2021· 5 citedOpen Access
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
The American Journal of Human Genetics·2020· 56 citedOpen Access
Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis
Genetics in Medicine·2020· 16 citedOpen Access
Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing
Acta Dermato Venereologica·2020· 5 citedOpen Access
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Frequent Co-authors

Regina C. Betz(17), Xing Xiong(11), Maria Wehner(9), F. Buket Basmanav(9), Holger Thiele(6), Hölger Thiele(5), Henning Hamm(4), Aytaj Humbatova(3), Sheetal Kumar(3), Matthias Geyer(3), Yasmina Gossmann(3), Vinzenz Oji(3), Ulrike Blume‐Peytavi(3), Jorge Frank(3), Yunran Peng(3), Tsenka Tomova-Simitchieva(3), Zhimiao Lin(3), Ye Li(3), Axel Schmidt(2), Daisy Axt(2)