Publications Prof. Dr. med. Anita Rauch
ZORA Publication List
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Publications
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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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Response to Cueto-González et al.. Genetics in Medicine, 24(3):757.
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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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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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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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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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