Anita Rauch
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View article: Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila
Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila Open
View article: De novo missense variants in <scp> <i>BAIAP2</i> </scp> are associated with developmental and epileptic encephalopathies
De novo missense variants in <span> <i>BAIAP2</i> </span> are associated with developmental and epileptic encephalopathies Open
Objective Brain‐specific angiogenesis inhibitor 1‐associated protein 2 ( BAIAP2 ) plays a crucial role in dendritic spine morphogenesis and excitatory synapse formation. We establish de novo variants in BAIAP2 as a novel genetic cause for …
View article: <i>CEP290</i> deficiency disrupts ciliary axonemal architecture in human iPSC-derived brain organoids
<i>CEP290</i> deficiency disrupts ciliary axonemal architecture in human iPSC-derived brain organoids Open
Primary cilia are ubiquitous sensory organelles mediating various signaling modalities essential for development and cell homeostasis. Their dysfunction leads to ciliopathies, human disorders often affecting the central nervous system. CEP…
View article: A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B Open
Syndromic cardiac malformations can result in morbidity, yet their genetic etiology is only understood for a subset of individuals. Genome sequencing efforts in congenital anomaly cohorts may identify disease-associated variants in previou…
View article: PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia Open
Polypyrimidine tract-binding protein 1 (PTBP1) is a heterogeneous nuclear ribonucleoprotein primarily known for its alternative splicing activity. It shuttles between the nucleus and cytoplasm via partially overlapping N-terminal nuclear l…
View article: Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene
Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene Open
The detection of complex structural variants in patients with familial cerebral cavernous malformations (FCCM) remains challenging. Short-read whole genome sequencing was performed for a patient with strong clinical evidence of FCCM but ne…
View article: Genotype-Phenotype Correlation in RBM10-Associated Syndromes – How Variant Function Shapes a Broad Phenotypic Landscape
Genotype-Phenotype Correlation in RBM10-Associated Syndromes – How Variant Function Shapes a Broad Phenotypic Landscape Open
Severe loss of function variants in the splicing regulatory protein RBM10 are known to cause TARP syndrome, a rare X-linked recessive congenital syndrome. In recent years, individuals with milder phenotypes have been published, suggesting …
View article: CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines
CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines Open
CEP290 is an important human disease gene, as mutations are implicated in a broad spectrum of autosomal recessive ciliopathies, including Leber congenital amaurosis and Joubert, Meckel, Senior-LØken or Bardet Biedl syndromes. To create iso…
View article: De novo variants in<i>KDM2A</i>cause a syndromic neurodevelopmental disorder
De novo variants in<i>KDM2A</i>cause a syndromic neurodevelopmental disorder Open
Germline variants that disrupt components of the epigenetic machinery cause syndromic neurodevelopmental disorders. Using exome and genome sequencing, we identified de novo variants in KDM2A , a lysine demethylase crucial for embryonic dev…
View article: ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature Open
View article: Further delineation of the SCAF4-associated neurodevelopmental disorder
Further delineation of the SCAF4-associated neurodevelopmental disorder Open
View article: Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability
Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability Open
These findings confirm that GTF3C3 variants result in an autosomal recessive form of syndromic intellectual disability.
View article: Paediatric Personalized Research Network Switzerland (SwissPedHealth): a joint paediatric national data stream
Paediatric Personalized Research Network Switzerland (SwissPedHealth): a joint paediatric national data stream Open
Introduction Children represent a large and vulnerable patient group. However, the evidence base for most paediatric diagnostic and therapeutic procedures remains limited or is often inferred from adults. There is an urgency to improve pae…
View article: Loss‐of‐Function Variants in <scp><i>CUL3</i></scp> Cause a Syndromic Neurodevelopmental Disorder
Loss‐of‐Function Variants in <span><i>CUL3</i></span> Cause a Syndromic Neurodevelopmental Disorder Open
Objective De novo variants in cullin‐3 ubiquitin ligase ( CUL3 ) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here, we aimed to collect sporadic cases carrying …
View article: Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling
Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling Open
Zinc and RING finger 3 (ZNRF3) is a negative-feedback regulator of Wnt/β-catenin signaling, which plays an important role in human brain development. Although somatically frequently mutated in cancer, germline variants in ZNRF3 have not be…
View article: Further evidence for an attenuated phenotype of in‐frame <i>DMD</i> deletions affecting the central rod domain of dystrophin around exon 48
Further evidence for an attenuated phenotype of in‐frame <i>DMD</i> deletions affecting the central rod domain of dystrophin around exon 48 Open
Alterations in the X‐linked recessive DMD gene cause dystrophinopathies with a broad clinical spectrum most commonly ranging from Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) to cardiomyopathy or intellectual disabi…
View article: Paediatric Personalized Research Network Switzerland (SwissPedHealth): A Joint Paediatric National Data Stream
Paediatric Personalized Research Network Switzerland (SwissPedHealth): A Joint Paediatric National Data Stream Open
Introduction Children represent a large and vulnerable patient group. However, the evidence-base for most paediatric diagnostic and therapeutic procedures remains limited or is often inferred from adults. There is urgency to improve paedia…
View article: Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy Open
Our study broadens the geographic scope of CHD2-related phenotypes, providing valuable insights into the prevalence and clinical characteristics of this genetic disorder in previously underrepresented populations.
View article: SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland
SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland Open
Large-scale next-generation sequencing (NGS) germline testing is technically feasible today, but variant interpretation represents a major bottleneck in analysis workflows. This includes extensive variant prioritization, annotation, and ti…
View article: <i>De novo</i> variants in <i>ATXN7L3</i> lead to developmental delay, hypotonia and distinctive facial features
<i>De novo</i> variants in <i>ATXN7L3</i> lead to developmental delay, hypotonia and distinctive facial features Open
Deubiquitination is crucial for the proper functioning of numerous biological pathways, such as DNA repair, cell cycle progression, transcription, signal transduction and autophagy. Accordingly, pathogenic variants in deubiquitinating enzy…
View article: Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect Open
View article: DPF2-related Coffin-Siris syndrome type 7 in two generations
DPF2-related Coffin-Siris syndrome type 7 in two generations Open
To date 11 patients with Coffin-Siris syndrome type 7 (OMIM 618027) have been described since the first literature report. All reported patients carried de novo variants with presumed dominant negative effect, which localized in the PHD1/P…
View article: SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation Open
View article: Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene<i>PSMC5</i>in neurodevelopmental proteasomopathies
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene<i>PSMC5</i>in neurodevelopmental proteasomopathies Open
Neurodevelopmental proteasomopathies represent a distinctive category of neurodevelopmental disorders (NDD) characterized by genetic variations within the 26S proteasome, a protein complex governing eukaryotic cellular protein homeostasis.…
View article: Further evidence that the neurodevelopmental gene <scp><i>FBXW7</i></scp> predisposes to <scp>Wilms</scp> tumor
Further evidence that the neurodevelopmental gene <span><i>FBXW7</i></span> predisposes to <span>Wilms</span> tumor Open
Somatic variants in the NOTCH pathway regulator FBXW7 are frequently seen in a variety of malignancies. Heterozygous loss‐of‐function germline variants in FBXW7 have recently been described as causative for a neurodevelopmental syndrome. I…
View article: Loss of tissue-type plasminogen activator causes multiple developmental anomalies
Loss of tissue-type plasminogen activator causes multiple developmental anomalies Open
Hydrocephalus and Dandy–Walker malformation are amongst the most common congenital brain anomalies. We identified three consanguineous families with both obstructive hydrocephalus and Dandy–Walker malformation. To understand the molecular …
View article: PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework Open
View article: Biallelic <i>MED27</i> variants lead to variable ponto-cerebello-lental degeneration with movement disorders
Biallelic <i>MED27</i> variants lead to variable ponto-cerebello-lental degeneration with movement disorders Open
MED27 is a subunit of the Mediator multiprotein complex, which is involved in transcriptional regulation. Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder with s…
View article: Loss-of-function variants in<i>CUL3</i>cause a syndromic neurodevelopmental disorder
Loss-of-function variants in<i>CUL3</i>cause a syndromic neurodevelopmental disorder Open
Purpose De novo variants in CUL3 (Cullin-3 ubiquitin ligase) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here we aimed to collect sporadic cases carrying rare …
View article: A very mild phenotype in six individuals of a three‐generation family with the novel <scp><i>HRAS</i></scp> variant c.<scp>176C</scp> > <scp>G</scp> p.(<scp>Ala59Gly</scp>): Emergence of a new <scp><i>HRAS</i></scp>‐related <scp>RASopathy</scp> distinct from <scp>Costello</scp> syndrome
A very mild phenotype in six individuals of a three‐generation family with the novel <span><i>HRAS</i></span> variant c.<span>176C</span> > <span>G</span> p.(<span>Ala59Gly</span>): Emergence of a new <span><i>HRAS</i></span>‐related <span>RASopathy</span> distinct from <span>Costello</span> syndrome Open
Costello syndrome is a clinically recognizable, severe neurodevelopmental disorder caused by heterozygous activating variants in HRAS . The vast majority of affected patients share recurring variants affecting HRAS codons 12 and 13 and a r…