Publications Prof. Dr. med. Anita Rauch
ZORA Publication List
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Publications
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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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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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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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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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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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De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females European Journal of Human Genetics, 23(5):602-609.
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Systemische Amyloidosen Swiss Medical Forum, 14(50):943-948.
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Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations American Journal of Medical Genetics. Part A, 167(2):394-399.
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The clinical significance of small copy number variants in neurodevelopmental disorders Journal of Medical Genetics, 51(10):677-688.
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Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome European Journal of Pediatrics, 173(9):1253-1256.
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High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power Prenatal Diagnosis, 34(6):525-533.
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A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes American Journal of Medical Genetics. Part A, 164A(5):1277-1283.
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Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems American Journal of Human Genetics, 94(5):649-661.
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Exome sequencing in unspecific intellectual disability and rare disorders Molecular Cytogenetics, 7(Suppl 1 Pr):I26.
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