Marfan syndrome database information unreliable for diagnoses
Respectful communication by geneticists important for parents of children with undiagnosed disorders
In this issue
Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations
Children with 7q11.23 duplication syndrome: Psychological characteristics
Facing up to the challenges of advancing Craniofacial Research
The society for craniofacial genetics and developmental biology 37th annual meeting
Tetrasomy 18p: Report of cognitive and behavioral characteristics
Speech and language in a genotyped cohort of individuals with Kabuki syndrome
A national survey of Rett syndrome: Age, clinical characteristics, current abilities, and health
Mutations in LONP1 , a mitochondrial matrix protease, cause CODAS syndrome
Polymorphisms in folate pathway genes are not associated with somatic nondisjunction in turner syndrome
Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumors in neurofibromatosis 1
Characterization of facial phenotypes of children with congenital hypopituitarism and their parents: A matched case-control study
Maternal factors associated with the occurrence of gastroschisis
Community dissemination and genetic research: Moving beyond results reporting
Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: A genotype–phenotype analysis
An increased prevalence of thyroid disease in children with 22q11.2 deletion syndrome
Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect
Ketotifen suppression of NF1 neurofibroma growth over 30 years
Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1
Mosaic tetrasomy 20p associated with osteoporosis and recurrent fractures
Clinical spectrum of eye malformations in four patients with Mowat–Wilson syndrome
De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient
Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F
Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti
Thiamine responsive megaloblastic anemia syndrome: A novel homozygous SLC19A2 gene mutation identified
Partial trisomy 21: A fifty-year follow-up visit
Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome
Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C
Severe osteogenesis imperfecta caused by double glycine substitutions near the amino-terminal triple helical region in COL1A2
Neurocognitive profile of a young adolescent with DK phocomelia/von Voss phocomelia/von Voss Cherstvoy syndrome
Borderline cognitive level in a family with Bazex-Dupré-Christol syndrome
An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis
The unprecedented recurrent diploid/tetraploid mosaicism of trisomy-18 (mixoploidy; 4n+18/2n+18): Clinical report
Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE
A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces
CNKSR2 deletions: A novel cause of X-linked intellectual disability and seizures
An additional clinical sign of 17q21.31 microdeletion syndrome: Preaxial polydactyly of hands with broad thumbs
Pericardial effusion associated with hypothyroidism in an adult female with down syndrome
Duplication of SOX3 (Xq27) may be a risk factor for Neural Tube Defects
Letter to the editor regarding Disciglio et al.: Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome
Response to Phelan K. et al.: Letter to the Editor Regarding Disciglio et al: Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome
“CHARGE-like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases” American Journal of Medical Genetics Part A . 164:2557–2566, 2014