• A complementary component to atypical haemolytic uraemic syndrome
• A large, dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21
• A male with type I orofaciodigital syndrome
• A prospective cytogenetic study of 36 cases of DiGeorge syndrome
• A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation
• Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
• Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
• Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
• CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
• Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11
• Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11
• Deletions within chromosome 22q11 in familial congenital heart disease
• Developmental genetics of the heart
• DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin
• DiGeorge syndrome: part of CATCH 22
• Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data
• Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
• Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome
• Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome
• Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134)
• Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome
• Monozygotic twins with chromosome 22q11 deletion and discordant phenotype
• Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects
• Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus
• New dysmorphic syndrome with choanal atresia in siblings
• Not all <em>SCN1A</em> epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype
• Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype
• Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants
• Transmission of Proteus syndrome from father to son?
• UFD1L is not the monogenic basis for heart defects associated with the CATCH phenotype
• Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus