Publications Prof. Dr. med. Anita Rauch
ZORA Publication List
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Publications
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Grundlagen der medizinischen Genetik Praxis, 102(24):1457-1465.
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Mentale Retardierung – eine häufige Fragestellung in der medizinischen Genetik Praxis, 102(24):1467-1473.
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Biallelic SEMA3A defects cause a novel type of syndromic short stature American Journal of Medical Genetics. Part A, 161A(11):2880-2889.
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Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria American Journal of Medical Genetics. Part A, 161(8):1853-1859.
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Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability European Journal of Human Genetics, 21(10):1100-1104.
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Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot Human Molecular Genetics, 22(7):1473-1481.
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De novo mutations in the genome organizer CTCF cause intellectual disability American Journal of Human Genetics, 93(1):124-131.
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A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype Journal of Medical Genetics, 50(12):838-847.
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Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls Circulation. Cardiovascular Genetics, 6(4):347-353.
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Rare copy number variants are a common cause of short stature PLoS Genetics, 9(3):e1003365.
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Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12 European Journal of Human Genetics, 21(12):1349-1355.
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A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling Human Molecular Genetics, 22(25):5121-5135.
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Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease American Journal of Human Genetics, 91(3):489-501.
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Next-Generation-Sequenzierung. Ein Quantensprung in der Aufklärung genetischer Erkrankungen Swiss Medical Forum, 12(03):44-46.
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Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome Journal of Medical Genetics, 49(11):713-720.
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Macrocerebellum: significance and pathogenic considerations Cerebellum, 11(4):1026-1036.
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Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls Human Molecular Genetics, 21(7):1513-1520.
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Molecular Syndromology Edited by: Rauch, Anita; et al (2012). Basel: Karger.
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Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability American Journal of Human Genetics, 90(3):565-572.
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