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.

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Posters from 2019

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Developing Technologically Advanced Research in Low- and Middle-Income Countries, Isa Abdulkadir, Tina Slusher, Fidelia Bode-Thomas, Sean Riordan, Jean-Baptiste LePichon, Laila Hassan, Shehu Abdullahi, Akinyemi Ofakunrin, Stephen Oguche, Steven Shapiro, and William Ogala

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Mutant p53 Depletion by Natural Compounds, Mohamed A.A. Alalem, Sana Farooki, and Tomoo Iwakuma

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A discrepancy between the human reference genome (GRCh37) and transcriptome (RefSeq) results in the incorrect annotation of a clinically-relevant sequence variant in RECQL4, Lisa A. Lansdon

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Neuroblastoma in Adolescents and Children Older than 10 Years: Unusual Clinicopathologic and Biologic Features, Laura McCarthy, Katherine Chastain, Terrie Flatt, Eugenio Taboada, Robert E. Garola, John Herriges, Linda D. Cooley, and Atif Ahmed

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Clinical Utility of Exon Deletion/Duplication Microarray Testing - a Children’s Mercy Kansas City Two-Year Experience, Binu Porath

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Weighted Pathway Genetic Load Analysis of Hyperbilirubinemic Infants Indicates a Potential Genetic Component for Susceptibility to Bilirubin Neurotoxicity, Sean M. Riordan, Jean-Baptiste LePichon, Steven Shapiro, John Cowden, Monica VillaGullen, Laurence Thielemans, Dina Villanueva Garcia, and Jesus Aguirre-Hernandez

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Viral Whole Genome Sequencing for Antiviral Resistance in a Child with DOCK8 Deficiency and Recurrent HSV-1, Sean Stout, A. L. Greninger, Rangaraj Selvarangan, A. F. Freeman, Brandon D. Newell, Erin Stahl, and Dwight Yin

Posters from 2018

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Review of Karyotypic Data from Low Grade Glial Brain Tumors, Specifically Pilocytic Astrocytomas, and Correlation of Genetic Aberrations with Tumor Recurrence., Linda D. Cooley, Scott C. Smith, Lisa Warren, Melissa Gener, Kevin Ginn, and John Herriges

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Juvenile myelomonocytic leukemia with t(3;5)(q25;q35), Auer rods and marked myelodysplasia., Weijie Li, Linda D. Cooley, and Keith August

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On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing., Isabelle Thiffault, Maxime Cadieux-Dion, Emily G. Farrow, Raymond Caylor, Neil A. Miller, Sarah E. Soden, and Carol J. Saunders

Papers from 2017

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Genetic Predictors of Susceptibility to Dermatophytoses., Susan M. Abdel-Rahman

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Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management., Lorne A. Clarke, Andrea M. Atherton, Barbara K. Burton, Debra L. Day-Salvatore, Paige Kaplan, Nancy D. Leslie, C Ronald Ronald Scott, David W. Stockton, Janet A. Thomas, and Joseph Muenzer

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Genetic alterations in necrotizing enterocolitis., Alain Cuna and Venkatesh Sampath

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Variation among Consent Forms for Clinical Whole Exome Sequencing., Sara A Fowler, Carol J. Saunders, and Mark A Hoffman

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The Pharmacogene Variation (PharmVar) Consortium: Incorporation of the Human Cytochrome P450 (CYP) Allele Nomenclature Database, Andrea Gaedigk, Magnus Ingelman-Sundberg, Neil A. Miller, J Steven Leeder, Michelle Whirl-Carrillo, and Teri E. Klein

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Prediction of CYP2D6 phenotype from genotype across world populations., Andrea Gaedigk, Katrin Sangkuhl, Michelle Whirl-Carrillo, Teri Klein, and J Steven Leeder

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Novel HLA-DP region susceptibility loci associated with severe acute GvHD., Rakesh K. Goyal, S J. Lee, T Wang, M Trucco, M Haagenson, S R. Spellman, M Verneris, and R E. Ferrell

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Clinical pharmacogenetics implementation consortium guideline (CPIC) for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants: 2016 update., J K. Hicks, K Sangkuhl, J J. Swen, V L. Ellingrod, D J. Müller, K Shimoda, J R. Bishop, E D. Kharasch, T C. Skaar, Andrea Gaedigk, H M. Dunnenberger, T E. Klein, K E. Caudle, and J C. Stingl

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Fine-mapping the MHC locus in juvenile idiopathic arthritis (JIA) reveals genetic heterogeneity corresponding to distinct adult inflammatory arthritic diseases., A Hinks, J Bowes, J Cobb, H C. Ainsworth, M C. Marion, M E. Comeau, M Sudman, B Han, Juvenile Arthritis Consortium for Immunochip, Mara L. Becker, J F. Bohnsack, P I W de Bakker, J P. Haas, M Hazen, D J. Lovell, P A. Nigrovic, E Nordal, M Punnaro, A M. Rosenberg, M Rygg, S L. Smith, C A. Wise, V Videm, L R. Wedderburn, A Yarwood, R S M Yeung, S Prahalad, C D. Langefeld, S Raychaudhuri, S D. Thompson, and W Thomson

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Genetic Counselor Practices Involving Pediatric Patients with FAP: an Investigation of their Self-Reported Strategies for Genetic Testing and Hepatoblastoma Screening., Caitlin E. Lawson, Thomas M. Attard, Hongying Dai, and Seth Septer

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Metronidazole Metabolism in Neonates and the Interplay Between Ontogeny and Genetic Variation., Laura A. Wang, Daniel Gonzalez, J Steven Leeder, Rachel F. Tyndale, Robin E. Pearce, Daniel K. Benjamin, Gregory L. Kearns, Michael Cohen-Wolkowiez, and Best Pharmaceuticals for Children Act-Pediatric Trials Network Steering Committee

Papers from 2016

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The genomic CDS sandbox: An assessment among domain experts., Ayesha Aziz, Kensaku Kawamoto, Karen Eilbeck, Marc S Williams, Robert R Freimuth, Mark A Hoffman, Luke V Rasmussen, Casey L Overby, Brian H Shirts, James M Hoffman, and Brandon M Welch

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Tom Curran, PhD, FRS, Named Executive Director of Children's Research Institute, Children's Mercy Hospital

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User-centered design of multi-gene sequencing panel reports for clinicians., Elizabeth Cutting, Meghan Banchero, Amber L Beitelshees, James J Cimino, Guilherme Del Fiol, Ayse P Gurses, Mark A Hoffman, Linda Jo Bone Jeng, Kensaku Kawamoto, Mark Kelemen, Harold Alan Pincus, Alan R Shuldiner, Marc S Williams, Toni I Pollin, and Casey Lynnette Overby

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Whole-Genome Sequencing and Disability in the NICU: Exploring Practical and Ethical Challenges., Michael J. Deem

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Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility., Terri H. Finkel, Jin Li, Zhi Wei, Wei Wang, Haitao Zhang, Edward M. Behrens, Emma L. Reuschel, Sophie Limou, Carol Wise, Marilynn Punaro, Mara L. Becker, Jane E. Munro, Berit Flatø, Øystein Førre, Susan D. Thompson, Carl D. Langefeld, David N. Glass, Joseph T. Glessner, Cecilia E. Kim, Edward Frackelton, Debra K. Shivers, Kelly A. Thomas, Rosetta M. Chiavacci, Cuiping Hou, Kexiang Xu, James Snyder, Haijun Qiu, Frank Mentch, Kai Wang, Cheryl A. Winkler, Benedicte A. Lie, Justine A. Ellis, and Hakon Hakonarson

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Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A., Allison M. Jay, Robert L. Conway, Isabelle Thiffault, Carol J. Saunders, Emily G. Farrow, John Adams, and Helga V. Toriello

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Genetic Variation in the Histamine Production, Response, and Degradation Pathway Is Associated with Histamine Pharmacodynamic Response in Children with Asthma., Bridgette Jones, Catherine M T Sherwin, Xiaoxi Liu, Hongying Dai, and Carrie A. Vyhlidal

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Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting., L V. Kalman, Jag Agúndez, M Lindqvist Appell, J L. Black, G C. Bell, S Boukouvala, C Bruckner, E Bruford, K Caudle, S A. Coulthard, A K. Daly, Al Del Tredici, J T. den Dunnen, K Drozda, R E. Everts, D Flockhart, R R. Freimuth, Andrea Gaedigk, H Hachad, T Hartshorne, M Ingelman-Sundberg, T E. Klein, V M. Lauschke, D R. Maglott, H L. McLeod, G A. McMillin, U A. Meyer, D J. Müller, D A. Nickerson, W S. Oetting, M Pacanowski, V M. Pratt, M V. Relling, A Roberts, W S. Rubinstein, K Sangkuhl, M Schwab, S A. Scott, S C. Sim, R K. Thirumaran, L H. Toji, R F. Tyndale, Rhn van Schaik, M Whirl-Carrillo, KTJ Yeo, and U M. Zanger

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Introduction to Bioethics Special Supplement V: Ethical Issues in Genomic Testing of Children., John D. Lantos

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CD33 Expression and Its Association With Gemtuzumab Ozogamicin Response: Results From the Randomized Phase III Children's Oncology Group Trial AAML0531., Jessica A. Pollard, Michael Loken, Robert B. Gerbing, Susana C. Raimondi, Betsy A. Hirsch, Richard Aplenc, Irwin D. Bernstein, Alan S. Gamis, Todd A. Alonzo, and Soheil Meshinchi

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Long-Read Single Molecule Real-Time Full Gene Sequencing of Cytochrome P450-2D6., Wanqiong Qiao, Yao Yang, Robert Sebra, Geetu Mendiratta, Andrea Gaedigk, Robert J. Desnick, and Stuart A. Scott

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A Quality Improvement Collaborative to Improve Pediatric Primary Care Genetic Services., Michael L. Rinke, Amy Driscoll, Natalie Mikat-Stevens, Jill Healy, Elizabeth Colantuoni, Abdallah F. Elias, Beth A. Pletcher, Ruth S. Gubernick, Ingrid Larson, Wendy K. Chung, and Beth A. Tarini

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Role of Pharmacogenetics in Improving the Safety of Psychiatric Care by Predicting the Potential Risks of Mania in CYP2D6 Poor Metabolizers Diagnosed With Bipolar Disorder., Santiago Sánchez-Iglesias, Virginia García-Solaesa, Belén García-Berrocal, Almudena Sanchez-Martín, Carolina Lorenzo-Romo, Tomás Martín-Pinto, Andrea Gaedigk, José Manuel González-Buitrago, and María Isidoro-García

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CYP450 genotype and pharmacogenetic association studies: a critical appraisal., Rashmi R. Shah, Andrea Gaedigk, Adrián LLerena, Michel Eichelbaum, Julia Stingl, and Robert L. Smith

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Molecular Evolution and Intraclade Recombination of Enterovirus D68 during the 2014 Outbreak in the United States., Yi Tan, Ferdaus Hassan, Jennifer E. Schuster, Ari Simenauer, Rangaraj Selvarangan, Rebecca A. Halpin, Xudong Lin, Nadia Fedorova, Timothy B. Stockwell, Tommy Tsan-Yuk Lam, James D. Chappell, Tina V. Hartert, Edward C. Holmes, and Suman R. Das

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An informatics research agenda to support precision medicine: seven key areas., Jessica D Tenenbaum, Paul Avillach, Marge Benham-Hutchins, Matthew K Breitenstein, Erin L Crowgey, Mark A Hoffman, Xia Jiang, Subha Madhavan, John E Mattison, Radhakrishnan Nagarajan, Bisakha Ray, Dmitriy Shin, Shyam Visweswaran, Zhongming Zhao, and Robert R Freimuth

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The Challenge of Analyzing the Results of Next-Generation Sequencing in Children., Isabelle Thiffault and John Lantos

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Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene,, Greyson P. Twist, Andrea Gaedigk, Neil A. Miller, Emily G. Farrow, Laurel K. Willig, Darrell L. Dinwiddie, Josh E. Petrikin, Sarah E. Soden, Suzanne Herd, Margaret Gibson, Julie A. Cakici, Amanda K. Riffel, J Steven Leeder, Deendayal Dinakarpandian, and Stephen F. Kingsmore

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Techniques and Approaches to Genetic Analyses in Nephrological Disorders., Laurel K. Willig

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Genetic loci associated with renal function measures and chronic kidney disease in children: the Pediatric Investigation for Genetic Factors Linked with Renal Progression Consortium., Matthias Wuttke, Craig S. Wong, Elke Wühl, Daniel Epting, Li Luo, Anselm Hoppmann, Anke Doyon, Yong Li, GKDGen Consortium, Betül Sözeri, Daniela Thurn, Martin Helmstädter, Tobias B. Huber, Tom D. Blydt-Hansen, Albrecht Kramer-Zucker, Otto Mehls, Anette Melk, Uwe Querfeld, Susan L. Furth, Bradley A. Warady, Franz Schaefer, and Anna Köttgen

Papers from 2015

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CYP2D7 Sequence Variation Interferes with TaqMan CYP2D6 (*) 15 and (*) 35 Genotyping., Amanda K. Riffel, Mehdi Dehghani, Toinette Hartshorne, Kristen C. Floyd, J Steven Leeder, Kevin P. Rosenblatt, and Andrea Gaedigk

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Biomarkers and oncology: the path forward to a learning health system., Peter P Yu, Mark A Hoffman, and Daniel F Hayes

Submissions from 2014

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Dr. Kingsmore, Dr. Goggin Honored with Endowed Chairs, Children's Mercy Hospital

Papers from 2012

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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

Papers from 2011

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Electronic medical records and personalized medicine., Mark A Hoffman and Marc S Williams

Papers from 2009

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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

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Intussusception in the adult: an unsuspected case of Peutz-Jeghers syndrome with review of the literature., Jason D. Fraser, Steven E. Briggs, Shawn D. St Peter, Giovanni De Petris, and Jacques Heppell

Papers from 2008

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The influence of trisomy 21 on the incidence and severity of congenital heart defects in patients with duodenal atresia., Scott J. Keckler, Shawn D. St Peter, Troy L. Spilde, Daniel J. Ostlie, and Charles L. Snyder

Papers from 2007

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The genome-enabled electronic medical record., M A Hoffman

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HIV genotypic resistance testing to optimize antiretroviral prescribing: is there room for improvement?, Jonathan Uy, John T Brooks, Rose Baker, Mark Hoffman, Anne Moorman, and Richard Novak

Papers from 2002

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Genetic determinants of delayed graft function after kidney transplantation., Shawn D. St Peter, Charles J. Imber, Des C. Jones, Susan V. Fuggle, Christopher J. Watson, Peter J. Friend, and Sara E. Marshall