Publications Prof. Dr. med. Anita Rauch
ZORA Publication List
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Publications
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Genetische Beratung: Konzepte, Missverständnisse, Perspektiven Schweizerische Ärztezeitung (SÄZ), 103(4950):34-36.
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A Xp22.11-p21.3 microdeletion in a three-generation family supports male lethality of POLA1 nullisomy resulting in reduced fertility of female carriers European Journal of Medical Genetics, 65(12):104628.
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PhenoScore: AI-based phenomics to quantify rare disease and genetic variation medRxiv 22281480, Cold Spring Harbor Laboratory.
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The MAP3K7 gene: further delineation of clinical characteristics and genotype/phenotype correlations Human Mutation, 43(10):1377-1395.
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Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype medRxiv 22279724, Cold Spring Harbor Laboratory.
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News der Woche : Gentests für Eltern Schweizerische Ärztezeitung (SÄZ), 103(37):10.
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Vaccin contre la variole du singe Schweizerische Ärztezeitung (SÄZ), (103(37):10):8-11.
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Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes Journal of Medical Genetics, 59(9):878-887.
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Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder American Journal of Human Genetics, 109(8):1549-1558.
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Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders n p j Genomic Medicine, 7(1):45.
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Expanding the phenotype: Four new cases and hope for treatment in Bachmann-Bupp syndrome American Journal of Medical Genetics. Part A, 185(11):3485-3493.
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Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot Genetics in Medicine, 23(10):2013.
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Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot Genetics in Medicine, 23(10):1952-1960.
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Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in Stem Cell Research, 56:1-6.
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Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype Genetics in Medicine, 23(8):1474-1483.
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Confirmation of Ogden syndrome as an X-linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature American Journal of Medical Genetics. Part A, 185(8):2546-2560.
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