Publications Prof. Dr. med. Anita Rauch
ZORA Publication List
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Publications
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SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland Journal of Personalized Medicine, 14(6):648.
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Further evidence that the neurodevelopmental gene FBXW7 predisposes to Wilms tumor American Journal of Medical Genetics. Part A, 194(6):e63528.
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DPF2-related Coffin-Siris syndrome type 7 in two generations European Journal of Medical Genetics, 69:104945.
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Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect American Journal of Human Genetics, 111(6):1184-1205.
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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation Nature Communications, 15(1758):1758.
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Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders Brain : a Journal of Neurology, 146(12):5031-5043.
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Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies European Journal of Human Genetics, 31(8):953-961.
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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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