References for Rotating Residents and Students
Below is a list of references for the rotation in Medical Genetics. For access to most of the articles, you need to be on campus or logged-in remotely.
Basic schedule - please review schedules in WakeOne for the most up-to-date clinic schedule ('MC BC 07 Pediatric Medical Genetics' in WakeOne). Most clinics start at 8:30am and are on the 7th floor of the Ardmore Tower in the Pediatric Specialty Clinic of the Brenner Children's Hospital. The exceptions are satellite clinics that are generally the first three Mondays of the month, and a cleft palate-craniofacial disorders clinic on the second and fourth Thursday afternoons in a month. Consults are typically done in the afternoons or on non-clinic days.
- Nussbaum, McInnes, Willard (eds). Thompson and Thompson Genetics in Medicine, 2007.
- Jones (ed). Smith's Recognizable Patterns of Human Malformation, 2013.
- Hennekam, Krantz, Allanson (eds). Gorlin's Syndromes of the Head and Neck. 2010.
American Journal of Medical Genetics, Vol 149A, January 2009
Elements of Morphology: Standard Terminology (website link)
Working with children with Genetic conditions and special healthcare needs
- Welcome to Holland (a poem about having a child with a birth defect or genetic syndrome)
- Health supervision for children with Down syndrome, Pediatrics 2011
- Health supervision for children with Neurofibromatosis type 1, Pediatrics 2008
- Health supervision for children with Fragile X syndrome, Pediatrics 2011
- Care of girls and women with Turner syndrome, J Clin Endo Metab 2007
- Fragile X: A family of disorders, Adv Pediatr 2009
- Practical guidelines for managing patients with 22q11.2 deletion syndrome, J Pediatrics 2011
- Fetal alcohol spectrum disorders (1), Pediatrics 2004
- Fetal alcohol spectrum disorders (2), Neurosci Biobehav Rev 2007
- Short stature syndromes and epigenetics, Am J Med Genet 2010
- Isolated hemihyperplasia, Genet Med 2009
- Genetic evaluation of hypotonia, Develop Med and Child Neurol 2011
Connective tissue conditions
Inborn errors of metabolism
Genetic testing and Genomics