The Genomic Medicine Center at Children's Mercy was established in 2011. Among the first of its kind with a pediatric focus, the center provides clinical genomic services and is an epicenter for genomic research. Although our focus is sequencing and analysis of rare inherited diseases in children, plans are underway for expansion into a translational cancer genomics program and the use of pharmacogenomics in precision medicine.
The Genetics Clinic at Children's Mercy provides state-of-the-art evaluation, diagnosis, treatment and counseling for a variety of inherited conditions and chromosome disorders and genetic birth defects. The team includes physicians who are board-certified by the American Board of Medical Genetics and Genomics and genetic counselors.
Works from 2013
Exome Sequencing Reveals De Novo Germline Mutation of the Mammalian Target of Rapamycin (MTOR) in a Patient with Megalencephaly and Intractable Seizures, Laurie D. Smith, Carol J. Saunders, Darrell L. Dinwiddie, Andrea M. Atherton, Neil A. Miller, Sarah E. Soden, Emily G. Farrow, Ahmed T G Abdelmoity, and Stephen F. Kingsmore (Article)
Works from 2012
15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features., Ahmed Abdelmoity, Jean-Baptist LePichon, Sarah S. Nyp, Sarah E. Soden, Carol A. Daniel, and Shihui Yu (Article)
Next-generation community genetics for low- and middle-income countries., Stephen F. Kingsmore, John D. Lantos, Darrell L. Dinwiddie, Neil A. Miller, Sarah E. Soden, Emily G. Farrow, and Carol J. Saunders (Article)
Technical desiderata for the integration of genomic data into Electronic Health Records., Daniel R Masys, Gail P Jarvik, Neil F Abernethy, Nicholas R Anderson, George J Papanicolaou, Dina N Paltoo, Mark A Hoffman, Isaac S Kohane, and Howard P Levy (Article)
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units., Carol J. Saunders, Neil Andrew Miller, Sarah E. Soden, Darrell Lee Dinwiddie, Aaron Noll, Noor Abu Alnadi, Nevene Andraws, Melanie Patterson, Lisa Ann Krivohlavek, Joel Fellis, Sean Humphray, Peter Saffrey, Zoya Kingsbury, Jacqueline Claire Weir, Jason Betley, Russell James Grocock, Elliott Harrison Margulies, Emily G. Farrow, Michael Artman, Nicole Pauline Safina, Joshua Erin Petrikin, Kevin Peter Hall, and Stephen Francis Kingsmore (Article)
Works from 2011
Electronic medical records and personalized medicine., Mark A Hoffman and Marc S Williams (Article)
Unique phenotype in a patient with CHARGE syndrome., Shobhit Jain, Hyung-Goo Kim, Felicitas Lacbawan, Irene Meliciani, Wolfgang Wenzel, Ingo Kurth, Josefina Sharma, Morris Schoeneman, Svetlana Ten, Lawrence C. Layman, and Elka Jacobson-Dickman (Article)
Works from 2010
A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of the TRPM1, CHRNA7, and other homozygously deleted genes., Jean-Baptist LePichon, Douglas C. Bittel, William D. Graf, and Shihui Yu (Article)
Works from 2009
Efficiency of CYP2C9 genetic test representation for automated pharmacogenetic decision support., Vikrant G Deshmukh, Mark A Hoffman, Catherine Arnoldi, Bruce E Bray, and Joyce A Mitchell (Article)
Works from 2007
The genome-enabled electronic medical record., M A Hoffman (Article)
