Classic EDS: Simply a type v collagen deficiency story?
The Genome Generation by Elizabeth Finkel
Gaucher disease paradigm: From ERAD to comorbidity
Analysis of the regulatory and catalytic domains of PTEN-induced kinase-1 (PINK1)
Molecular characterization of Joubert syndrome in Saudi Arabia
Loss of function mutation in LARP7 , chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1
PRRT2 Mutations are the major cause of benign familial infantile seizures
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome—Osteogenesis imperfecta phenotypic spectrum
Identification of novel rare mutations of DACT1 in human neural tube defects
Conserved and quickly evolving immunome genes have different evolutionary paths
The mechanism of BH4-responsive hyperphenylalaninemia—As it occurs in the ENU1/2 genetic mouse model
Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria
Solving bottlenecks in data sharing in the life sciences
Santorini mutation detection meeting 2011: Rapid advance in sequencing technology poses challenges for interpretation of genetic variations
A modular approach to disease registry design: Successful adoption of an internet-based rare disease registry
Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci