Publications Prof. Dr. med. Anita Rauch
ZORA Publication List
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Publications
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The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort. European Journal of Human Genetics, 31(7):784-792.
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Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons. Human Molecular Genetics, 32(13):2192-2204.
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Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder. medRxiv 23290941, Cold Spring Harbor Laboratory.
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The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies. Molecular Genetics & Genomic Medicine, 11(5):e2148.
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Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage. American Journal of Human Genetics, 110(4):681-690.
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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science Advances, 9(10):eade1463.
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Inclusion of sex chromosomes in noninvasive prenatal testing in Asia, Australia, Europe and the USA: A survey study. Prenatal Diagnosis, 43(2):144-155.
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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. American Journal of Human Genetics, 110(2):215-227.
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A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. Human Genetics and Genomics Advances, 4(1):100157.
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SwissGenVar: A platform for clinical grade interpretation of genetic variants to foster personalized health care in Switzerland. medRxiv 22283790, Cold Spring Harbor Laboratory.
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Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay. European Journal of Medical Genetics, 66(1):104669.
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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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