Purpose Genetic testing is an integral diagnostic component of pediatric medicine. Standard
of care is often a time-consuming stepwise approach involving chromosomal microarray …

Beckwith–Wiedemann syndrome (BWS) is a model disorder for the study of imprinting,
growth dysregulation, and tumorigenesis. Unique observations in this disorder point to an …

The standard of care for first-tier clinical investigation of the aetiology of congenital malformations
and neurodevelopmental disorders is chromosome microarray analysis (CMA) for copy…

… Cheryl Shuman Cheryl Shuman, MS, CGC is the Director, Genetic Counseling, Hospital
for Sick Children and Program Director, MSc Program in Genetic Counseling, University of …

… Cheryl Shuman, MS, CGC is the Director of Genetic Counseling at the Hospital for Sick …
Cheryl Shuman, MS, CGC is the Director of Genetic Counseling at the Hospital for Sick Children. …

Beckwith–Wiedemann syndrome (BWS) presents with visceromegaly, macroglossia, tumor
predisposition and other congenital abnormalities, and is usually associated with …

Dysregulation of imprinted genes on human chromosome 11p15 has been implicated in
Beckwith–Wiedemann syndrome (BWS), an overgrowth syndrome associated with congenital …

Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by neonatal
hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal …

DNA sequence and annotation of the entire human chromosome 7, encompassing nearly
158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a …

Imprinted genes are known to be crucial for placental development and fetal growth in
mammals, but no primary epigenetic abnormality in placenta has been documented to …