Expanded Ashkenazi Jewish prenatal testing panel well received
Biobanking DNA
In this issue
Introductory comments on special section-New developments in craniofacial biology: Putting on a happy face
Retinoid signaling in inner ear development: A “Goldilocks” phenomenon
Regulation of facial morphogenesis by endothelin signaling: Insights from mice and fish
Lrp4: A novel modulator of extracellular signaling in craniofacial organogenesis
Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention
Craniofacial ciliopathies: A new classification for craniofacial disorders
Genetic basis of potential therapeutic strategies for craniosynostosis
Brachydactyly type A1 with short humerus and associated skeletal features
“Omics” as the filtering gateway between environment and phenotype: The inflammatory bowel diseases example
The emergence of pharmacotherapies for cognitive function in Down syndrome
Donepezil for treatment of cognitive dysfunction in children with Down syndrome aged 10-17
New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family
The financing of clinical genetics research by disease advocacy organizations: A review of funding disclosures in biomedical journals
Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation
Siblings with phenotypic overlap with Toriello-Carey syndrome and complex cytogenetic imbalances including 3q29 microduplication and 6p25 microdeletion: Review of the literature and additional evidence for genetic heterogeneity
Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints
UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients
High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel
Further delineation of the Van den Ende-Gupta syndrome
Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria
IRF6 mutations in mixed isolated familial clefting
Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1
Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features
Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2
Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH
A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis
Familial Ohtahara syndrome due to a novel ARX gene mutation
IMAGe syndrome: Case report with a previously unreported feature and review of published literature
Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature
Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies
Mosaic down syndrome in a patient with low-level mosaicism detected by microarray
HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI
Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case
Further evidence for the pathogenicity of 15q24 microduplications distal to the minimal critical regions
Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome
Poland anomaly and hydranencephaly: An unusual association
Delineation of the breakpoints of pure duplication 3q due to a de novo duplication event using SOMA
Prenatal findings of paternal uniparental disomy 14: Delineation of further patient
Neu-Laxova syndrome: A new patient with detailed antenatal and post-natal findings
Molecular cytogenetic characterization of an inherited maternal duplication 20p11.21p13 associated with a small 20p11.21 deletion
2009 reviewer listing