▪ A Possible Role for JARID2 in Cleft Lip and Palate
▪ South East Asian CNVs Captured
Genetic Etiology of Parkinson Disease Associated with Mutations in the SNCA, PARK2, PINK1, PARK7 , and LRRK2 Genes: A Mutation Update
Bone Morphogenetic Protein 7 (BMP7) Mutations are Associated with Variable Ocular, Brain, Ear, Palate, and Skeletal Anomalies
Mutations in SOHLH1 Gene Associate with Nonobstructive Azoospermia
Expression and Association Data Strongly Support JARID2 Involvement in Nonsyndromic Cleft Lip with or without Cleft Palate
Understanding Carbamoyl-phosphate Synthetase I (CPS1) Deficiency by Using Expression Studies and Structure-Based Analysis
Cystathionine β-Synthase Mutations: Effect of Mutation Topology on Folding and Activity
Deletions of SCN1A 5′ Genomic Region with Promoter Activity in Dravet Syndrome
Dissecting the Pathogenic Mechanisms of Mutations in the Pore Region of the Human Cone Photoreceptor Cyclic Nucleotide-Gated Channel
Structures and Molecular Mechanisms for Common 15q13.3 Microduplications Involving CHRNA7 : Benign or Pathological?
Genomic Copy Number Variations in Three Southeast Asian Populations
Design and Validation of a Metabolic Disorder Resequencing Microarray (BRUM1)
Assessment of Complement C4 Gene Copy Number Using the Paralog Ratio Test
SNP Discovery Performance of Two Second-Generation Sequencing Platforms in the NOD2 Gene Region
HGV2009 Meeting: Bigger and Better Studies Provide More Answers and More Questions
First Missense Mutation in the SOST Gene Causing Sclerosteosis by Loss of Sclerostin Function
Recessive Mutations in RYR1 Are a Common Cause of Congenital Fiber Type Disproportion
PRNP Allelic Series From 19 Years of Prion Protein Gene Sequencing at the MRC Prion Unit
LPIN1 Gene Mutations: A Major Cause of Severe Rhabdomyolysis in Early Childhood
Functional Analysis of the HGSNAT Gene in Patients with Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)