Genetics

Check out your Goals and Objectives and resources below!

Textbooks

Smith’s Recognizable Patterns of Human Malformation: Available in the library; Recommended for Pediatric residents as the photos tend to crop up on exams

Handbook of Physical Measurements: Useful for all those odd things we check – borrow PRN

Web-based

OMIM             http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim&TabCmd=Limits

• Good for searching out potential genetic causes for anomalies
• Caveat: Results not always pertinent to clinical questions

GeneReviews http://www.ncbi.nlm.nih.gov/books/NBK1116/  

• Great source of relatively up-to-date information and management guidelines
• Peer reviewed
• Resources section listed support groups for patients/families
• Check out the Illustrated Glossary!

ACT sheets     http://www.ncbi.nlm.nih.gov/books/NBK55827/

• Key for primary care with a positive newborn screen

Unique            http://www.rarechromo.org/html/home.asp

• The only place to find one-of-a-kind chromosomal disorders
• Printable booklets with private & published information on select disorders

Orphanet         http://www.orpha.net/consor/cgi-bin/index.php

• Good source of literature on really rare disorders

Genetic Alliance - http://www.geneticalliance.org/publications

• Great for patients and non-Genetic providers regarding understanding genetics

Univ of Florida https://genetics.pediatrics.med.ufl.edu/teaching-resources/

• A great learning resource about so many things Genetic
• (Credit to Mo Alom, former Peds resident, for pointing us to this site)

Genetic testing search tool:    https://app.concertgenetics.com/#/             

Another genetics education resource is: http://www.genome.gov/10000464

For a compendium of Dysmorphology terms (w/pictures!), check out http://elementsofmorphology.nih.gov/

If you would like to update the information on this page, email kathryn.wynne@umassmemorial.org