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Anita Rauch
University of Zurich
293Publications
56H-index
10.8kCitations
Publications 299
Newest
#1Ilse MeerschautH-Index: 3
#2Shana De ConinckH-Index: 1
Last.Bert CallewaertH-Index: 27
view all 43 authors...
#1Anna Maria Werling (UZH: University of Zurich)H-Index: 2
#2Edna Grünblatt (UZH: University of Zurich)H-Index: 36
Last.Susanne Walitza (UZH: University of Zurich)H-Index: 39
view all 9 authors...
Copy-number variants (CNVs), in particular rare, small and large ones ( 1 Mb) CNVs as reported in ASD and ID. We performed high-resolution chromosomal microarray analysis in 108 children and adolescents with HFA without ID. There was no significant difference in the overall number of rare CNVs compared to 124 random population samples. However, patients with HFA carried significantly more frequently CNVs containing brain-related genes. Surprisingly, six HFA patients carried very large CNVs known...
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#1Joost Kummeling (Radboud University Nijmegen)
#2Diante E Stremmelaar (Radboud University Nijmegen)
Last.Tjitske Kleefstra (Radboud University Nijmegen)H-Index: 47
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Defects in histone methyltransferases (HMTs) are major contributing factors in neurodevelopmental disorders (NDDs). Heterozygous variants of SETD1A involved in histone H3 lysine 4 (H3K4) methylation were previously identified in individuals with schizophrenia. Here, we define the clinical features of the Mendelian syndrome associated with haploinsufficiency of SETD1A by investigating 15 predominantly pediatric individuals who all have de novo SETD1A variants. These individuals present with a cor...
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#1Anaïs Begemann (UZH: University of Zurich)H-Index: 4
#2Mario A. Acuña (UZH: University of Zurich)H-Index: 9
Last.Anita RauchH-Index: 56
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Background Deleterious variants in the voltage-gated sodium channel type 2 (Nav1.2) lead to a broad spectrum of phenotypes ranging from benign familial neonatal-infantile epilepsy (BFNIE), severe developmental and epileptic encephalopathy (DEE) and intellectual disability (ID) to autism spectrum disorders (ASD). Yet, the underlying mechanisms are still incompletely understood.
1 CitationsSource
#1Vinita Jagannath (UZH: University of Zurich)H-Index: 5
#2Edna Grünblatt (UZH: University of Zurich)H-Index: 36
Last.Susanne WalitzaH-Index: 39
view all 13 authors...
Schizophrenia is a complex and chronic neuropsychiatric disorder, with a heritability of around 60-80%. Large (>100 kb) rare (<1%) copy number variants (CNVs) occur more frequently in schizophrenia patients compared to controls. Currently, there are no studies reporting genome-wide CNVs in clinical high risk for psychosis (CHR-P) individuals. The aim of this study was to investigate the role of rare genome-wide CNVs in 84 CHR-P individuals and 124 presumably healthy controls. There were no signi...
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#1Georgia Vasileiou (FAU: University of Erlangen-Nuremberg)H-Index: 6
#2Juliane Hoyer (FAU: University of Erlangen-Nuremberg)H-Index: 23
Last.Bernt Popp (FAU: University of Erlangen-Nuremberg)H-Index: 12
view all 17 authors...
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#1B. TutschekH-Index: 3
#2Boris TutschekH-Index: 10
Last.Anita Rauch (UZH: University of Zurich)H-Index: 56
view all 3 authors...
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#1Andrea Accogli (McGill University)H-Index: 2
#2Andrea Accogli (McGill University)H-Index: 6
Last.Myriam Srour (McGill University)H-Index: 19
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Cadherins constitute a family of transmembrane proteins that mediate calcium-dependent cell-cell adhesion. The extracellular domain of cadherins consists of extracellular cadherin (EC) domains, separated by calcium binding sites. The EC interacts with other cadherin molecules in cis and in trans to mechanically hold apposing cell surfaces together. CDH2 encodes N-cadherin, whose essential roles in neural development include neuronal migration and axon pathfinding. However, CDH2 has not yet been ...
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#1Paranchai Boonsawat (UZH: University of Zurich)H-Index: 2
#2Pascal Joset (UZH: University of Zurich)H-Index: 12
Last.Anita Rauch (UZH: University of Zurich)H-Index: 56
view all 31 authors...
Microcephaly is a sign of many genetic conditions but has been rarely systematically evaluated. We therefore comprehensively studied the clinical and genetic landscape of an unselected cohort of patients with microcephaly. We performed clinical assessment, high-resolution chromosomal microarray analysis, exome sequencing, and functional studies in 62 patients (58% with primary microcephaly [PM], 27% with secondary microcephaly [SM], and 15% of unknown onset). We found severity of developmental d...
1 CitationsSource
#1Dennis Kraemer (UZH: University of Zurich)H-Index: 1
#2Silvia Azzarello-Burri (UZH: University of Zurich)H-Index: 8
Last.Anita Rauch (UZH: University of Zurich)H-Index: 56
view all 9 authors...
Since the advent of high-throughput sequencing technologies, organised germline screening, independent of personal and family cancer history, has been frequently proposed. A critical prerequisite is knowledge of the expected carrier frequencies.
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