Publications Prof. Dr. med. Anita Rauch
ZORA Publication List
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Publications
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STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. Journal of Medical Genetics, 54(7):479-488.
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YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. American Journal of Human Genetics, 100(6):907-925.
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The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B. American Journal of Medical Genetics. Part A, 173(5):1440-1443.
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Confirmation of mutations in PROSC as a novel cause of vitamin B6 -dependent epilepsy. Journal of Medical Genetics, 54(12):809-814.
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Medizinische Genetik im ärztlichen Alltag. Primary and Hospital Care, 17(4):78-80.
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FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum. Journal of Medical Genetics, 54(1):64-72.
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Mutations in CRADD result in reduced caspase-2-mediated neuronal apoptosis and cause megalencephaly with a rare lissencephaly variant. American Journal of Human Genetics, 99(5):1117-1129.
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Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy. Journal of Medical Genetics, 53(8):511-522.
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Noninvasive prenatal testing: more caution in counseling is needed in high risk pregnancies with ultrasound abnormalities. European Journal of Obstetrics, Gynecology, and Reproductive Biology, 200:72-75.
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Genetische Diagnostik für die Betreuung von Patientinnen mit Brustkrebs: BRCA and beyond. Swiss Medical Forum, 16(01):4-6.
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The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies. Journal of Inherited Metabolic Disease, 39(5):733-741.
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Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features. Genetics in Medicine, 18(8):788-795.
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N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics. Journal of Inherited Metabolic Disease, 39(1):131-137.
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A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. American Journal of Medical Genetics. Part A, 170(2):392-402.
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A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations. Muscle & Nerve, 52(4):668-673.
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Mutations in CDK5RAP2 cause Seckel syndrome. Molecular Genetics & Genomic Medicine, 3(5):467-480.
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Molecular diversity and associated phenotypic spectrum of germline CBL mutations. Human Mutation, 36(8):787-796.
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Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability. Human Molecular Genetics, 24(13):3708-3717.
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Polar body diagnosis (PBD): an alternative and supplement to preimplantation diagnosis for single embryo transfer. In: Sills, E Scott. Screening the Single Euploid Embryo : Molecular Genetics in Reproductive Medicine. International Publishing Switzerland: Springer, 103-122.
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