Publications Prof. Dr. med. Anita Rauch
ZORA Publication List
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Publications
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Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature Genetics in Medicine, 20(6):630-638.
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Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency European Journal of Medical Genetics, 61(4):189-196.
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Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling European Journal of Human Genetics, 26(2):197-209.
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Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome American Journal of Medical Genetics. Part A, 176(1):134-138.
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Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions American Journal of Human Genetics, 101(6):985-994.
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High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder BMC Medical Genomics, 10(1):68.
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Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation European Journal of Medical Genetics, 60(9):451-464.
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Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders Molecular Syndromology, 8(5):266-271.
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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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Microarrays in prenatal diagnosis Best Practice & Research. Clinical Obstetrics & Gynaecology, 42:53-63.
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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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