• 19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression
• 5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases
• A Clinical Classification Scheme for Tracheobronchomegaly (Mounier-Kuhn Syndrome)
• A grandpaternally derived de novo deletion within Xp21 initially presenting in carrier females diagnosed as Kugelberg-Welander syndrome
• A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3
• A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders
• A Roberts Syndrome Individual With Differential Genotoxin Sensitivity and a DNA Damage Response Defect
• A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin
• Absence of HIV infection in prostitutes and women attending sexually-transmitted disease clinics in South Africa
• Additional deletion in sex-determining region of human Y chromosome resolves paradox of X,t(Y;22) female
• An indirect fluorescent antibody test for antibodies against HTLV-III
• Apert syndrome: temporal lobe abnormalities on fetal brain imaging
• Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation
• Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects
• Bleeding diathesis in Noonan syndrome: a common association
• BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1)
• Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus
• Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1
• Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome
• Clinical variability within Brachmann-de Lange syndrome: a proposed classification system
• Complete androgen insensitivity with a normal amount of 5 alpha-dihydrotestosterone-binding activity in labium majus skin fibroblasts
• Contemporary prenatal aneuploidy screening practice in Australia: Frequently asked questions in the cell-free DNA era
• Cytogenetic findings in over 2000 amniocenteses
• Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice
• Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions
• Dicentric Y chromosome and mixed dysgenesis
• Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome
• Duty to re-contact: a study of families at risk for Fragile X
• EML1-associated brain overgrowth syndrome with ribbon-like heterotopia
• Epidemiological considerations of the present status and future growth of the acquired immunodeficiency syndrome epidemic in South Africa
• Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer
• Evaluating a unique, specialist psychiatric genetic counseling clinic: uptake and impact
• Evaluation of a "dip-stick" methodology for detection of antibodies to HIV1
• Evidence for multi-site closure of the neural tube in humans
• Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms
• Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases
• Familial clefting syndrome with ectropion and dental anomaly--without limb anomalies
• Familial renal hypophosphatemia, minor facial anomalies, intracerebral calcifications, and non-rachitic bone changes: apparently new syndrome?
• Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain
• Fetal phenotype of 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 cases
• Further case of Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy
• Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients
• Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome
• Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
• Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients
• Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region
• Group cognitive behavioural therapy program shows potential in reducing symptoms of depression and stress among young people with ASD
• HIV-2 infection in South Africa
• Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome
• Increased left hemisphere impairment in high-functioning autism: a tract based spatial statistics study
• Increased premotor cortex activation in high functioning autism during action observation
• Infantile autism: an occasional manifestation of fragile (X) mental retardation
• Isodicentric Yp: prenatal diagnosis and outcome in 12 cases
• Klinefelter Syndrome: What should we tell prospective parents?
• Lack of evidence of HTLV-III endemicity in southern Africa
• Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome
• Methylation profiling in individuals with Russell-Silver syndrome
• Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11
• Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
• Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division
• Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth
• Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics
• Normal male carriers in the fra(X) form of X-linked mental retardation (Martin-Bell syndrome)
• Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
• Perinatal and first year follow-up of patients with Prader-Willi syndrome: normal size of hands and feet
• Perinatal outcome following suspected fetal abnormality when managed through a fetal management unit
• Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene
• Periventricular heterotopia in common microdeletion syndromes
• Phenotypic variability of distal 22q11.2 copy number abnormalities
• Poland syndrome in British Columbia: incidence and reproductive experience of affected persons
• Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature
• Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome
• Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome
• Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature
• Reconstructing hominid Y evolution: X-homologous block, created by X-Y transposition, was disrupted by Yp inversion through LINE-LINE recombination
• Sero-epidemiology of HTLV-III antibody in southern Africa
• Severe connective tissue laxity including aortic dilatation in Sotos syndrome
• Sex differences in neurodevelopmental disorders
• Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH
• The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height
• The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reports
• The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies
• Transmission of the fra(X) haplotype from three nonpenetrant brothers to their affected grandsons
• Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt
• Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A
• Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype
• Williams syndrome in adults
• X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease