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Publications by Anita Rauch

CEP152 Is a Genome Maintenance Protein Disrupted in Seckel Syndrome

Nature Genetics

English

Deleterious Variation in BRSK2 Associates With a Neurodevelopmental Disorder

American Journal of Human Genetics

English

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

American Journal of Human Genetics

English

Bi-Allelic TMEM94 Truncating Variants Are Associated With Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

American Journal of Human Genetics

English

Genetic and Neurodevelopmental Spectrum ofSYNGAP1-associated Intellectual Disability and Epilepsy

Journal of Medical Genetics

English

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

English

Dosage Changes of MED13L Further Delineate Its Role in Congenital Heart Defects and Intellectual Disability

European Journal of Human Genetics

English

Macrocerebellum: Significance and Pathogenic Considerations

English

N8-Acetylspermidine as a Potential Plasma Biomarker for Snyder-Robinson Syndrome Identified by Clinical Metabolomics

Journal of Inherited Metabolic Disease

English

Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders

Molecular Syndromology

English