Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

Identification of Molecular Phenotypes and Biased Signaling Induced by Naturally Occurring Mutations of the Human Calcium-Sensing Receptor

(2012) Katie Leach et al.   ENDOCRINOLOGY

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites

(2012) F. M. Hannan et al.   HUMAN MOLECULAR GENETICS

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

(2012) Lynn M. Boyden et al.   NATURE

 -Aminobutyric Acid Type B (GABAB) Receptor Internalization Is Regulated by the R2 Subunit

(2011) S. Hannan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Performance comparison of exome DNA sequencing technologies

(2011) Michael J Clark et al.   NATURE BIOTECHNOLOGY

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Agonist-Driven Maturation and Plasma Membrane Insertion of Calcium-Sensing Receptors Dynamically Control Signal Amplitude

(2011) M. P. Grant et al.   Science Signaling

High Resolution Melt analysis for mutation screening in PKD1 and PKD2

(2011) Stanislas Bataille et al.   BMC Nephrology

Stampy: A statistical algorithm for sensitive and fast mapping of Illumina sequence reads

(2010) G. Lunter et al.   GENOME RESEARCH

Identification of a Second Kindred with Familial Hypocalciuric Hypercalcemia Type 3 (FHH3) Narrows Localization to a

(2010) M. Andrew Nesbit et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Calcium-Sensing Receptor (CASR) Mutations in Hypercalcemic States: Studies from a Single Endocrine Clinic Over Three Years

(2010) Vito Guarnieri et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

A MissenseGATA3Mutation, Thr272Ile, Causes the Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome

(2009) Katherine U. Gaynor et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Adaptor Protein-2 Interaction with Arrestin Regulates GPCR Recycling and Apoptosis

(2009) Brant M. Wagener et al.   TRAFFIC

A structural explanation for the binding of endocytic dileucine motifs by the AP2 complex

(2008) Bernard T. Kelly et al.   NATURE