Suggested Reading for Pediatric Residents

Autism and Mental Retardation

• Clinical genetics evaluation in identifying the etiology of autism spectrum disorders. Schaefer GB, Mendelsohn NJ; Professional Practice and Guidelines Committee. Genet Med. 2008 Apr;10(4):301-5.  
• Fetal Alcohol Spectrum Disorders. Wattendorf DJ. Am Fam Physician. 2005 Jul 15;72(2):279-82, 285.
• Fetal Alcohol Syndrome and Alcohol-Related Neurodevelopmental Disorders PEDIATRICS Vol. 106 No. 2 August 2000
• Genetic evaluation of intellectual disabilities. Moeschler JB. Semin Pediatr Neurol. 2008 Mar;15(1):2-9. PMID: 18342255.

Cardiomyopathies

• Cardiac and Clinical Phenotype in Barth Syndrome. Spencer CT et al. Pediatrics. 2006 Aug;118(2):e337-46. Epub 2006 Jul 17. 
• Incidence, Causes, and Outcomes of Dilated Cardiomyopathy in Children. Towbin JA et al. JAMA. 2006 Oct 18;296(15):1867-76.
• Clinical Utility of Genetic Tests for Inherited Hypertrophic and Dilated Cardiomyopathies. Colombo MG et al. Cardiovasc Ultrasound. 2008; 6: 62.

Ciliopathies

• The non-motile ciliopathies. Tobin JL, Beales PL. Genet Med. 2009 Jun;11(6):386-402. PMID: 19421068.
• The retinal ciliopathies. Adams NA et al. Ophthalmic Genet. 2007 Sep;28(3):113-25. PMID: 17896309
• The Ciliopathies: An Emerging Class of Human Genetic Disorders. Badano JL et al. Annu Rev Genomics Hum Genet. 2006;7:125-48. PMID: 16722803.
  

Cytogenetic abnormalities

• Subtelomere Deletions and Translocations are Frequently Familial. Adeyinka A et al. Am J Med Genet A. 2005 May 15;135(1):28-35.
• Comparative Genomic Hybridization in Clinical Cytogenetics. Bryndorf T et al. Am J Hum Genet. 1995 Nov;57(5):1211-20. 
• Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects. Sagoo GS et al. Genet Med. 2009 Mar;11(3):139-46. PMID: 19367186.

Epilepsy/ Seizures

• Genetic Basis in Epilepsies Caused by Malformations of Cortical Development and in Those with Structurally Normal Brain. Andrade DM. Hum Gene (2209) 126: 173-193.
• CDKL5 Mutations in Boys with Severe Encephalopathy and Early-Onset Intractable Seizures. Elia M et al. Neurology (2008) 71: 997-999.

Holoprosencephaly

• Evaluation and management of children with holoprosencephaly. Hahn JS, Pawner LL. Pediatr Neurol. 2004 Aug;31(2):79-88.
• Holoprosencephaly- clinical, anatomic and molecular dimensions. Cohen MM Jr. Birth Defects Res A Clin Mol Teratol. 2006 Sep;76(9):658-73.

Hypotonia

• The floppy infant: contribution of genetic and metabolic disorders. Prasad AN, Prasad C. Brain Dev. 2003 Oct;25(7):457-76
• Case 35-2006: A newborn boy with hypotonia. Brown RH Jr. et al. N Engl J Med. 2006 Nov 16;355(20):2132-42.

Imprinting disorders

• The Genetic Etiology of Silver-Russell Syndrome. Abu-Amero S et al. J Med Genet. 2008 Apr;45(4):193-9. Epub 2007 Dec 21.
• Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients. Wollmann HA et al. Eur J Pediatr. 1995 Dec;154(12):958-68.
• Genetic Counseling in Angelman Syndrome: the Challenges of Multiple Causes. Stalker Stalker HJ, Williams CA.  Am J Med Genet. 1998 Apr 28;77(1):54-9.
• Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19. DeBaun MR et al. Am J Hum Genet. 2003 Jan;72(1):156-60. Epub 2002 Nov 18.
  

Miscellaneous

• Genetic testing and tumor surveillance for children with cancer predisposition syndromes.  Rao A et al. Curr Opin Pediatr. 2008 Feb;20(1):1-7. PMID: 18197032.
• Educating health-care professionals about genetics and genomics.  Guttmacher AE et al. Nat Rev Genet. 2007 Feb;8(2):151-7. PMID: 17230201.
• The multifaceted role of Notch in cardiac development and disease. High FA, Epstein JA.  Nat Rev Genet. 2008 Jan;9(1):49-61.PMID: 18071321.

Osteogenesis imperfecta

• Genetic evaluation of suspected osteogenesis imperfecta. Byers PH et al. Genet Med. 2006 Jun;8(6):383-8.
• Child abuse or suspected osteogenesis imperfecta. Gahagan S and Rimsza ME. Pediatrics. 1991 Nov;88(5):987-92.

Pedigrees

• Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. Bennett RL et al. J Genet Couns. 2008 Oct;17(5):424-33. Epub 2008 Sep 16. PMID: 18792771.