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Svenja Alter

The beginning of a seed: regulatory mechanisms of double fertilization
2014 · Andrea Bleckmann, Svenja Alter, et al. · Frontiers in Plant Science · 93
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DroughtDB: an expert-curated compilation of plant drought stress genes and their homologs in nine species
2015 · Svenja Alter, Kai C. Bader, et al. · Database · 91
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Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients
2021 · Alrun Hotz, Julia Kopp, et al. · Genes · 37
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Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis
2023 · Alrun Hotz, Julia Kopp, et al. · Genes · 35
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Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis
2018 · Alrun Hotz, Emmanuelle Bourrat, et al. · Human Mutation · 32
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SUPPRESSOR OF FRIGIDA (SUF4) Supports Gamete Fusion via Regulating Arabidopsis EC1 Gene Expression
2016 · Francesca Resentini, Philipp Cyprys, et al. · PLANT PHYSIOLOGY · 26
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Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4
2019 · Nadja Ballin, Alrun Hotz, et al. · Human Mutation · 20
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A novel LMNA nonsense mutation causes two distinct phenotypes of cardiomyopathy with high risk of sudden cardiac death in a large five-generation family
2018 · Christina R Glöcklhofer, Johannes Steinfurt, et al. · EP Europace · 17
Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in protein kinase D1
2020 · Svenja Alter, Andreas David Zimmer, et al. · Journal of Medical Genetics · 14
Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort
2024 · Leonie Frommherz, Kathrin Giehl, et al. · Journal of the European Academy of Dermatology and Venereology · 11
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Novel VPS33B mutation in a patient with autosomal recessive keratoderma‐ichthyosis‐deafness syndrome
2018 · Svenja Alter, Alrun Hotz, et al. · American Journal of Medical Genetics Part A · 11
Neonatal presentation of COG6‐CDG with prominent skin phenotype
2020 · Katalin Komlosi, Selina Gläser, et al. · JIMD Reports · 10
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Autosomal Dominant Lamellar Ichthyosis Due to a Missense Variant in the Gene NKPD1
2024 · Katalin Komlosi, Cristina Glocker, et al. · Journal of Investigative Dermatology · 9
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Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations
2024 · Alrun Hotz, Regina Fölster-Holst, et al. · Genes · 9
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Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans
2022 · Sabine Jägle, Hao-Hsiang Hsu, et al. · British Journal of Dermatology · 9
Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia
2018 · L. Heinz, E. Bourrat, et al. · British Journal of Dermatology · 9
Obsessive–compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome
2022 · Theresa Göbel, Lea Berninger, et al. · Journal of Neural Transmission · 6
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Case Report: Diagnostic and Therapeutic Challenges in Severe Mechanobullous Epidermolysis Bullosa Acquisita
2022 · Franziska Schauer, Alexander Nyström, et al. · Frontiers in Immunology · 5
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Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families
2022 · Mingfeng Li, Judith Fischer, et al. · Pediatric Dermatology · 4
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The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome
2021 · Luise D. Resch, Alrun Hotz, et al. · Genes · 1
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AML/MDS patients with DDX41 (DEAD-box helicase 41) germline variants: A single-center experience
2026 · Janne Frömmichen, Dietmar Pfeifer, et al. · Blood Neoplasia
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CYP2C19 Polymorphism and Platelet Aggregation‐Associated Risks in Atrial Fibrillation Patients Undergoing PCI
2026 · Diona Gjermeni, Sofia Szabó, et al. · Clinical and Translational Science
Persistierende hyperkeratotische Plaques
2024 · Julie Claude Schroeder, Svenja Alter, et al. · JDDG Journal der Deutschen Dermatologischen Gesellschaft
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Persistent hyperkeratotic plaques
2024 · Julie Claude Schroeder, Svenja Alter, et al. · JDDG Journal der Deutschen Dermatologischen Gesellschaft
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Adding up the desmosomal genes causing syndromes with hair and skin involvement: identification of TUFT1 by state-of-the-art whole-genome sequencing
2022 · Judith Fischer, Svenja Alter · British Journal of Dermatology
Works count: 27
Citation count: 449
H-index: 11
I10-index: 12
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