Genetic modifier to chromatin may contribute to 22q11 deletion/VCF/DiGeorge syndrome variability
Newborn screening for Duchenne muscular dystrophy gains support
Perspectives on asymmetry: The erickson lecture
Pallister–Killian syndrome: Historical perspective and foreword
Novel clinical manifestations in Pallister–Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases
Developmental and behavioral characteristics of individuals with Pallister–Killian syndrome
Seizure characteristics in Pallister–Killian syndrome
Duplication 12p and Pallister–Killian syndrome: A case report and review of the literature toward defining a Pallister–Killian syndrome minimal critical region
Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister–Killian syndrome
Are we ready for targeted early breast cancer detection strategies in women with NF1 aged 30–49 years?
Increased risk of breast cancer in women with NF1
Breast cancer and other neoplasms in women with neurofibromatosis type 1: A retrospective review of cases in the Detroit metropolitan area
Brothers with hypospadias, vertebral segmentation defects, and intellectual disability: New syndrome?
Speech and hearing in adults with 22q11.2 deletion syndrome
Three polymorphisms in IRF6 and 8q24 are associated with nonsyndromic cleft lip with or without cleft palate: Evidence from 20 studies
Clinical geneticists' views of VACTERL/VATER association
Functional independence of Taiwanese children with VACTERL association
Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome
Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation
Congenital high airway obstruction sequence (CHAOS): A new case and a review of phenotypic features
A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks
Incidental findings in genetic research and clinical diagnostic tests: A systematic review
Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1
Mosaic 18q21.2 deletions including the TCF4 gene: A clinical report
An emerging phenotype of interstitial 15q25.2 microdeletions: Clinical report and review
Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy
Floating–Harbor syndrome and polycystic kidneys associated with SRCAP mutation
A 0.7 Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split-hand/split-foot malformation
Association of interactions among the IRF6 gene, the 8q24 region, and maternal folic acid intake with non-syndromic cleft lip/palate in Mexican Mestizos
An additional family with association of hereditary thrombocytosis and transverse limb deficiency: Confirmation of a rare clinical spectrum
Book review: Craniofacial Embryogenetics and Development. 2nd edition. By Sperber GH, Sperber SM, Guttman GD, editors. People's Medical Publishing House, Shelton CT, 2010. pp. 250. (ISBN 10: 1–60795–032–4)