Non-familial cases of intellectual disability could be linked to de novo genetic mutations
Online repository lets researchers view newborn blood spots in several states simultaneously
In this issue
Word smithing in medical genetics. Part II
The prevalence of lip vermilion morphological traits in a 15-year-old population
Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: Diagnostic and management issues
Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome
Characterization of fat distribution in Prader–Willi syndrome: Relationships with adipocytokines and influence of growth hormone treatment
Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome
Maternal perspectives on the return of genetic results: Context matters
“It's about having the choice”: Stakeholder perceptions of population-based genetic carrier screening for fragile X syndrome
Newborn screening and cascade testing for FMR1 mutations
Reproductive patterns among mothers of males diagnosed with Duchenne or Becker muscular dystrophy
Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures?
Uterine structural anomalies and arthrogryposis—death of an urban legend
The practice of adult genetics: A 7-year experience from a single center
Behavior in preschool children with the 22q11.2 deletion syndrome
Increase in central striatal dopamine transporters in patients with Shwachman–Diamond syndrome: Additional evidence of a brain phenotype
“Mandibulofacial dysostosis with microcephaly” caused by EFTUD2 mutations: Expanding the phenotype
Cardiac anomalies in Axenfeld–Rieger syndrome due to a novel FOXC1 mutation
Clinical utility of the X-chromosome array
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion
Duplication of 20p12.3 associated with familial Wolff–Parkinson–White syndrome
A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing
Severe craniosynostosis in an infant with deletion 22q11.2 syndrome
Phelan–McDermid syndrome: Clinical report of a 70-year-old woman
A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome
Mosaic maternal uniparental disomy of chromosome 15 in Prader–Willi syndrome: Utility of genome-wide SNP array
1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay—Additional case and data's review
Co-existence of 9p deletion and Silver-Russell syndromes in a patient with maternally inherited cryptic complex chromosome rearrangement involving chromosomes 4, 9, and 11
Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations
A novel mutation in CDKN1C in sibs with Beckwith–Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases
A 137-kb deletion within the Potocki–Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia
A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia
Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis
Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess
Proximal and distal 15q25.2 microdeletions–genotype–phenotype delineation of two neurodevelopmental susceptibility loci
Weaver syndrome and defective cortical development: A rare association
Syndromes A, syndromes B, syndromes C
Severe hypertrophic cardiomyopathy in Noonan syndrome—consider sequencing genes encoding sarcomeric proteins
Hypertrophic cardiomyopathy: How far should we go with genetic testing?
Additional evidence that the ryanodine receptor gene (RYR1) causes malignant hyperthermia and severe skeletal malformations
Corrigendum to “The Learning Disabilities Network (LeaDNet): Using Neurofibromatosis Type 1 [NF1] as a Paradigm for Translational Research”