Publications Prof. Dr. med. Anita Rauch
ZORA Publication List
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Publications
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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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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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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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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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Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. Clinical Genetics, 83(1):73-77.
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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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Molekulare Karyotypisierung in der Diagnostik neurokognitiver Entwicklungsstörungen. Medizinische Genetik, 24(2):94-98.
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Wachstumsstörungen als Leitsymptom. Medizinische Genetik, 24(2):123-137.
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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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The MEF2C-related and 5q14.3q15 microdeletion syndrome. Molecular Syndromology, 2(3-5):164-170.
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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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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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In-frame deletion and missense mutations of the C-terminal helicase domain of SMARCA2 in three patients with Nicolaides-Baraitser syndrome. Molecular Syndromology, 2(6):237-244.
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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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Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature. European Journal of Medical Genetics, 54(3):256-261.
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Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6). European Heart Journal, 32(9):1077-1088.
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