A Missense Mutation in a Highly Conserved Region of CASQ2 Is Associated with Autosomal Recessive Catecholamine-Induced Polymorphic Ventricular Tachycardia in Bedouin Families from Israel

Hadas Lahat, Elon Pras, Tsviya Olender, +9

The American Journal of Human Genetics

CardiomyopathyHighly Conserved RegionGeneticsMissense MutationBedouin Families +4

Identification of the gene causing mucolipidosis type IV

Ruth Bargal, Nili Avidan, Edna Ben‐Asher, +7

Nature Genetics

Disease MechanismPathogenesisPathologyHost GeneticsMedicine +2

Mechanisms for Evolving Hypervariability: The Case of Conopeptides

Silvestro G. Conticello, Yoav Gilad, Nili Avidan, +3

Molecular Biology and Evolution

CATSPER2, a human autosomal nonsyndromic male infertility gene

Nili Avidan, Hannah Tamary, Orly Dgany, +18

European Journal of Human Genetics

InfertilityAndrologyFertilityGeneticsMale Infertility +3

Is the G72/G30 locus associated with schizophrenia? single nucleotide polymorphisms, haplotypes, and gene expression analysis

Michael Korostishevsky, M. Kaganovich, Alina Cholostoy, +9

Biological Psychiatry

Risk PredictionPsychiatryPsychotic DisorderGeneticsPsychiatric Genetics +9

The RUNX3 gene – sequence, structure and regulated expression

Carmen Bangsow, Nir Rubins, Gustavo Glusman, +8

Gene

Transcriptional RegulationRegulated ExpressionGene RegulationGene CharacterizationMolecular Genetics +4

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

Avital Adato, Sarah Vreugde, Tarja Joensuu, +15

European Journal of Human Genetics

Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1

Orly Dgany, Nili Avidan, J. Delaunay, +21

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseHematology +6

Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis

Danit Oz-Levi, Bruria Ben‐Zeev, Elizabeth K. Ruzzo, +16

The American Journal of Human Genetics

Cell AutophagySystems BiologyMendelian DisorderGenetic DisorderGenetics +6

Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

Elizabeth K. Ruzzo, José‐Mario Capo‐Chichi, Bruria Ben‐Zeev, +41

Neuron

Developmental AnomalyDevelopmental BiologyGenetic DisorderProgressive FormGenetics +4