A novel bi‐allelic loss‐of‐function mutation in STIM1 expands the phenotype of STIM1 ‐related diseases

Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1

(2019) Lara El-Bazzal et al.   HUMAN MOLECULAR GENETICS

Iranome: A catalogue of genomic variations in the Iranian population

(2019) Zohreh Fattahi et al.   HUMAN MUTATION

VarAFT: a variant annotation and filtration system for human next generation sequencing data

(2018) Jean-Pierre Desvignes et al.   NUCLEIC ACIDS RESEARCH

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

(2016) Eric M Scott et al.   NATURE GENETICS

Diseases caused by mutations inORAI1andSTIM1

(2015) Rodrigo S. Lacruz et al.   Annals of the New York Academy of Sciences

A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency

(2015) Heidi Schaballie et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

STIM1 and SLC24A4 Are Critical for Enamel Maturation

(2014) S. Wang et al.   JOURNAL OF DENTAL RESEARCH

STIM1 couples to ORAI1 via an intramolecular transition into an extended conformation

(2011) Martin Muik et al.   EMBO JOURNAL

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

(2010) Minji Byun et al.   JOURNAL OF EXPERIMENTAL MEDICINE

ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia

(2009) Christie-Ann McCarl et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

STIM1Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity

(2009) Capucine Picard et al.   NEW ENGLAND JOURNAL OF MEDICINE