The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings
Molecular cytogenetics: recent developments and applications in cancer
Beckwith–Wiedemann and Silver–Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth
Perceptions of genetic counseling services in direct-to-consumer personal genomic testing
Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis
Novel DEPDC5 mutations causing familial focal epilepsy with variable foci identified
Early infantile onset of atypical hemolytic-uremic syndrome is caused by recessive mutations in DGKE
Cardiac characterization of 16 patients with large NF1 gene deletions
Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration
Identification of seven novel SMPD1 mutations causing Niemann–Pick disease types A and B
Syndromic non-compaction of the left ventricle: associated chromosomal anomalies
Myoclonus-dystonia and Silver–Russell syndrome resulting from maternal uniparental disomy of chromosome 7
A centralized approach to out-of-province genetic testing leads to cost savings: the Alberta experience
A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family
New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease
The L444P GBA mutation is associated with early-onset Parkinson's disease in Mexican Mestizos
SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations
Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype
Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum