Intellectual disability syndrome associated with a homozygous founder variant inSGSM3in Ashkenazi Jews

GATA2 Deficiency in Adult Life Is Characterized by Phenotypic Diversity and Delayed Diagnosis

(2022) Oded Shamriz et al.   Frontiers in Immunology

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Rab GTPases: Switching to Human Diseases

(2019) Noemi Antonella Guadagno et al.   Cells

Genome analysis and knowledge-driven variant interpretation with TGex

(2019) Dvir Dahary et al.   BMC Medical Genomics

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

(2017) Jack A Kosmicki et al.   NATURE GENETICS

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

(2017) Elaine T Lim et al.   NATURE NEUROSCIENCE

Neurodevelopmental Disorders (ASD and ADHD): DSM-5, ICD-10, and ICD-11

(2016) Ellen Doernberg et al.   CNS SPECTRUMS

Regulation of actin cytoskeleton by Rap1 binding to RacGEF1

(2012) Hyemin Mun et al.   MOLECULES AND CELLS

RapGAPs in brain: multipurpose players in neuronal Rap signalling

(2010) Christina Spilker et al.   EUROPEAN JOURNAL OF NEUROSCIENCE