Publications Prof. Dr. med. Anita Rauch
ZORA Publication List
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Publications
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De novo variants in KDM2A cause a syndromic neurodevelopmental disorder American Journal of Human Genetics, 113(1), 100–116. https://doi.org/10.1016/j.ajhg.2025.12.004
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Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies Nature Communications, 16(10545), online. https://doi.org/10.1038/s41467-025-65556-8
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A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B American Journal of Human Genetics, 112, 1–18. https://doi.org/10.1016/j.ajhg.2025.09.008
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De novo missense variants in
BAIAP2 are associated with developmental and epileptic encephalopathies. Epilepsia, online. https://doi.org/10.1111/epi.18661 -
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function Nature Genetics, 57(11), 2691–2704. https://doi.org/10.1038/s41588-025-02361-5
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CEP290-deficiency disrupts ciliary axonemal architecture in human iPSC-derived brain organoids Journal of Cell Science, jcs.264092, online. https://doi.org/10.1242/jcs.264092
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PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia Journal of Clinical Investigation, 182100, e182100. https://doi.org/10.1172/jci182100
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CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines Stem Cell Research, 87:103781.
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Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene Neurogenetics, 26, 65. https://doi.org/10.1007/s10048-025-00847-2
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Further delineation of the SCAF4-associated neurodevelopmental disorder European Journal of Human Genetics, 33(5):588-594.
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ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature European Journal of Human Genetics, Epub ahead of print. https://doi.org/10.1038/s41431-025-01798-w
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Further evidence for an attenuated phenotype of in‐frame DMD deletions affecting the central rod domain of dystrophin around exon 48 American Journal of Medical Genetics. Part A, 197(1):e63842.
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Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability Genetics in Medicine, 27(1):101253.
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Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder Annals of Neurology, 97(1):76-89.
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Nachruf John M. Opitz, geboren in Hamburg am 15.08.1935, verstorben 31. Oktober 2023 in Salt Lake City, Utah, U. S. A. Medizinische Genetik, 36(4):275-276.
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Loss of tissue-type plasminogen activator causes multiple developmental anomalies Brain Communications, 6(6):fcae408.
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Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling American Journal of Human Genetics, 111(9):1994-2011.
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De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features Brain : a Journal of Neurology, 147(8):2732-2744.
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Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy Neurology Genetics, 10(4):e200168.
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