Publications Prof. Dr. med. Anita Rauch
ZORA Publication List
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Publications
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CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity Epilepsia, 62(7):e103-e109.
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Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans New England Journal of Medicine, 384(25):2406-2417.
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Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome Molecular Psychiatry, 26(6):2013-2024.
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MED27 variansts cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia Annals of Neurology, 89(4):828-833.
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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females American Journal of Human Genetics, 108(3):502-516.
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DLG4-related synaptopathy: a new rare brain disorder Genetics in Medicine:1-12.
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The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction Genetics in Medicine, 23(2):352-362.
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Bi-allelic pathogenic variants in HS2ST1 cause a syndrome characterized by developmental delay and corpus callosum, skeletal, and renal abnormalities American Journal of Human Genetics, 107(6):1044-1061.
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Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approach Genes, Chromosomes and Cancer, 59(11):611-619.
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Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing European Journal of Obstetrics, Gynecology, and Reproductive Biology, 252:19-29.
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Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene) Molecular Genetics & Genomic Medicine:e1409.
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A clinical scoring system for congenital contractural arachnodactyly Genetics in Medicine, 22(1):124-131.
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CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects Journal of Medical Genetics, 57(6):389-399.
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Fetal tuberous sclerosis and the diagnosis of paternal gonadal mosaicism Ultrasound in Obstetrics & Gynecology, 55(5):691-692.
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Rare copy number variants in individuals at clinical high risk for psychosis: Enrichment of synaptic/brain‐related functional pathways American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 183(2):140-151.
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Insight Into the ontogeny of GnRH neurons from patients born without a nose Journal of Clinical Endocrinology & Metabolism, 105(5):1538-1551.
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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling Biological Psychiatry, 87(2):100-112.
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