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 2017
A functional ATG16L1 (T300A) variant is associated with necrotizing enterocolitis in premature infants., Venkatesh Sampath, Vineet Bhandari, Jessica Berger, Daniel Merchant, Liyun Zhang, Mihoko Ladd, Heather Menden, Jeffery Garland, Namasivayam Ambalavanan, Neil Mulrooney, Michael Quasney, John Dagle, Pascal M. Lavoie, Pippa Simpson, and Mary Dahmer (Article)
Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease., Isabelle Thiffault, Britton Zuccarelli, Holly Welsh, Xuan Yuan, Emily Farrow, Lee Zellmer, Neil Miller, Sarah Soden, Ahmed Abdelmoity, Robert A Brodsky, and Carol Saunders (Article)
Metabolic and molecular insights into an essential role of nicotinamide phosphoribosyltransferase., Li Q. Zhang, Leon Van Haandel, Min Xiong, Peixin Huang, Daniel P. Heruth, Chengpeng Bi, R Gaedigk, Xun Jiang, Ding-You Li, Gerald Wyckoff, Dmitry N. Grigoryev, Li Gao, Linheng Li, Min Wu, J Steven Leeder, and Shui Qing Ye (Article)
Works from 2016
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 (Article)
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 (Article)
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 (Article)
Whole-Genome Sequencing and Disability in the NICU: Exploring Practical and Ethical Challenges., Michael J. Deem (Article)
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy., Elisabetta Flex, Marcello Niceta, Serena Cecchetti, Isabelle Thiffault, Margaret G. Au, Alessandro Capuano, Emanuela Piermarini, Anna A. Ivanova, Joshua W. Francis, Giovanni Chillemi, Balasubramanian Chandramouli, Giovanna Carpentieri, Charlotte A. Haaxma, Andrea Ciolfi, Simone Pizzi, Ganka V. Douglas, Kara Levine, Antonella Sferra, Maria Lisa Dentici, Rolph R. Pfundt, Jean-Baptist LePichon, Emily G. Farrow, Frank Baas, Fiorella Piemonte, Bruno Dallapiccola, John M. Graham, Carol J. Saunders, Enrico Bertini, Richard A. Kahn, David A. Koolen, and Marco Tartaglia (Article)
Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing., Vera Gallo, Laura Dotta, Giuliana Giardino, Emilia Cirillo, Vassilios Lougaris, Roberta D'Assante, Alberto Prandini, Rita Consolini, Emily G. Farrow, Isabelle Thiffault, Carol J. Saunders, Antonio Leonardi, Alessandro Plebani, Raffaele Badolato, and Claudio Pignata (Article)
Targeted next-generation sequencing revealed MYD88 deficiency in a child with chronic yersiniosis and granulomatous lymphadenitis., Giuliana Giardino, Vera Gallo, Domenico Somma, Emily G. Farrow, Isabelle Thiffault, Roberta D'Assante, Vittoria Donofrio, Mariateresa Paciolla, Matilde Valeria Ursini, Antonio Leonardi, Carol J. Saunders, and Claudio Pignata (Letter to the Editor)
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 (Article)
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype., Florian Job, Shuji Mizumoto, Laurie Smith, Natario Couser, Ashley Brazil, Howard Saal, Melanie Patterson, Margaret Gibson, Sarah E. Soden, Neil A. Miller, Isabelle Thiffault, Carol J. Saunders, Shuhei Yamada, Katrin Hoffmann, Kazuyuki Sugahara, and Emily G. Farrow (Article)
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 (Article)
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 (Article)
Introduction to Bioethics Special Supplement V: Ethical Issues in Genomic Testing of Children., John D. Lantos (Article)
Clinical detection of deletion structural variants in whole-genome sequences., Aaron C. Noll, Neil A. Miller, Laurie D. Smith, Byunggil Yoo, Stephanie Fiedler, Linda D. Cooley, Laurel K. Willig, Josh E. Petrikin, Julie Cakici, John Lesko, Angela Newton, Kali Detherage, Isabelle Thiffault, Carol J. Saunders, Emily G. Farrow, and Stephen F. Kingsmore (Article)
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 (Article)
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 (Article)
CYP450 genotype and pharmacogenetic association studies: a critical appraisal., Rashmi R. Shah, Andrea Gaedigk, Adrián LLerena, Michel Eichelbaum, Julia Stingl, and Robert L. Smith (Article)
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 (Article)
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 (Article)
Expert opinion and caution are imperative for interpretation of next generation sequencing data., Isabelle Thiffault and Geneviève Bernard (Article)
PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant., Isabelle Thiffault, Emily Farrow, Laurie Smith, Jennifer Lowry, Lee Zellmer, Benjamin Black, Ahmed Abdelmoity, Neil Miller, Sarah Soden, and Carol Saunders (Article)
The Challenge of Analyzing the Results of Next-Generation Sequencing in Children., Isabelle Thiffault and John Lantos (Article)
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 (Article)
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 (Article)
Works from 2015
Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy., Mariana Gutierrez, Isabelle Thiffault, Kether Guerrero, Gabriel A. Martos-Moreno, Luan T Tran, William Benko, Marjo S. van der Knaap, Rosalina M L van Spaendonk, Nicole I. Wolf, and Geneviève Bernard (Article)
The Future of Next-Generation Sequencing in Neurology., Jean-Baptiste LePichon, Carol J. Saunders, and Sarah E. Soden (Article)
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations., Joshua D. Milner, Tiphanie P. Vogel, Lisa Forbes, Chi A. Ma, Asbjørg Stray-Pedersen, Julie E. Niemela, Jonathan J. Lyons, Karin R. Engelhardt, Yu Zhang, Nermina Topcagic, Elisha D O Roberson, Helen Matthews, James W. Verbsky, Trivikram Dasu, Alexander Vargas-Hernandez, Nidhy Varghese, Kenneth L. McClain, Lina B. Karam, Karen Nahmod, George Makedonas, Emily M. Mace, Hanne S. Sorte, Gøri Perminow, V Koneti Rao, Michael P. O'Connell, Susan Price, Helen C. Su, Morgan Butrick, Joshua McElwee, Jason D. Hughes, Joseph Willet, David Swan, Yaobo Xu, Mauro Santibanez-Koref, Voytek Slowik, Darrell L. Dinwiddie, Christina E. Ciaccio, Carol J. Saunders, Seth Septer, Stephen F Kingsmore, Andrew J. White, Andrew J. Cant, Sophie Hambleton, and Megan A. Cooper (Article)
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 (Article)
The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1., Florin Sasarman, Isabelle Thiffault, Woranontee Weraarpachai, Steven Salomon, Catalina Maftei, Julie Gauthier, Benjamin Ellazam, Neil Webb, Hana Antonicka, Alexandre Janer, Catherine Brunel-Guitton, Orly Elpeleg, Grant Mitchell, and Eric A. Shoubridge (Article)
Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouse., Carol J. Saunders, Sung Ho Moon, Xinping Liu, Isabelle Thiffault, Keith Coffman, Jean-Baptiste LePichon, Eugenio Taboada, Laurie D. Smith, Emily G. Farrow, Neil Miller, Margaret Gibson, Melanie Patterson, Stephen F. Kingsmore, and Richard W. Gross (Article)
CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria., Carol Saunders, Laurie Smith, Flemming Wibrand, Kirstine Ravn, Peter Bross, Isabelle Thiffault, Mette Christensen, Andrea Atherton, Emily Farrow, Neil Miller, Stephen F Kingsmore, and Elsebet Ostergaard (Article)
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes., Isabelle Thiffault, Carol Saunders, Janda Jenkins, Nikita Raje, Kristi Canty, Mukta Sharma, Lauren Grote, Holly I. Welsh, Emily Farrow, Greyson Twist, Neil Miller, David Zwick, Lee Zellmer, Stephen F. Kingsmore, and Nicole P. Safina (Article)
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III., Isabelle Thiffault, Nicole I Wolf, Diane Forget, Kether Guerrero, Luan T. Tran, Karine Choquet, Mathieu Lavallée-Adam, Christian Poitras, Bernard Brais, Grace Yoon, Laszlo Sztriha, Richard I. Webster, Dagmar Timmann, Bart P. van de Warrenburg, Jürgen Seeger, Alíz Zimmermann, Adrienn Máté, Cyril Goizet, Eva Fung, Marjo S. van der Knaap, Sébastien Fribourg, Adeline Vanderver, Cas Simons, Ryan J. Taft, John R. Yates, Benoit Coulombe, and Geneviève Bernard (Article)
Renal systems biology of patients with systemic inflammatory response syndrome., Ephraim L. Tsalik, Laurel K. Willig, Brandon J. Rice, Jennifer C. van Velkinburgh, Robert P. Mohney, Jonathan E. McDunn, Darrell L. Dinwiddie, Neil A. Miller, Eric S. Mayer, Seth W. Glickman, Anja K. Jaehne, Robert H. Glew, Mohan L. Sopori, Ronny M. Otero, Kevin S. Harrod, Charles B. Cairns, Vance G. Fowler, Emanuel P. Rivers, Christopher W. Woods, Stephen F. Kingsmore, and Raymond J. Langley (Article)
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings., Laurel K. Willig, Josh E. Petrikin, Laurie D. Smith, Carol J. Saunders, Isabelle Thiffault, Neil A Miller, Sarah E. Soden, Julie A. Cakici, Suzanne M. Herd, Greyson Twist, Aaron Noll, Mitchell Creed, Patria M. Alba, Shannon L. Carpenter, Mark A. Clements, Ryan T. Fischer, J Allyson Hays, Howard Kilbride, Ryan J. McDonough, Jamie L. Rosterman, Sarah L. Tsai, Lee Zellmer, Emily G. Farrow, and Stephen F. Kingsmore (Article)
Works from 2014
D_CDF Test of Negative Log Transformed P-values with Application to Genetic Pathway Analysis, Hongying Dai and Richard Charnigo (Article)
A modified generalized Fisher method for combining probabilities from dependent tests., Hongying Dai, J Steven Leeder, and Yuehua Cui (Article)
Hypothesis Testing in Normal Admixture Models to Detect Heterogeneous Genetic Signals, Qian Fan, Richard Charnigo, Zohreh Talebizadeh, and Hongying Dai (Article)
Individualizing the use of medications in children: making Goldilocks happy., James S. Leeder, J T. Brown, and Sarah E. Soden (Article)
Utility of next generation sequencing in clinical primary immunodeficiencies., Nikita Raje, Sarah Soden, Douglas Swanson, Christina E. Ciaccio, Stephen F. Kingsmore, and Darrell L Dinwiddie (Article)
N-of-1 genomic medicine for the rare pediatric genetic diseases, Laurie D. Smith and Stephen F. Kingsmore (Article)
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders., Sarah E. Soden, Carol J. Saunders, Laurel K. Willig, Emily G. Farrow, Laurie D. Smith, Josh E. Petrikin, Jean-Baptiste LePichon, Neil A. Miller, Isabelle Thiffault, Darrell L Dinwiddie, Greyson Twist, Aaron Noll, Bryce A. Heese, Lee Zellmer, Andrea M. Atherton, Ahmed T. Abdelmoity, Nicole Safina, Sarah S. Nyp, Britton Zuccarelli, Ingrid A. Larson, Ann Modrcin, Suzanne Herd, Mitchell Creed, Zhaohui Ye, Xuan Yuan, Robert A Brodsky, and Stephen F. Kingsmore (Article)
An integrated transcriptome and expressed variant analysis of sepsis survival and death., Ephraim L. Tsalik, Raymond J. Langley, Darrell L. Dinwiddie, Neil A. Miller, Byunggil Yoo, Jennifer C. van Velkinburgh, Laurie D. Smith, Isabella Thiffault, Anja K. Jaehne, Ashlee M. Valente, Ricardo Henao, Xin Yuan, Seth W. Glickman, Brandon J. Rice, Micah T. McClain, Lawrence Carin, G Ralph Corey, Geoffrey s S. Ginsburg, Charles B. Cairns, Ronny M. Otero, Vance G. Fowler, Emanuel P. Rivers, Christopher W. Woods, and Stephen F. Kingsmore (Article)
Works from 2013
Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing., Darrell L. Dinwiddie, Julia M. Bracken, Julie A. Bass, Kathy Christenson, Sarah Soden, Carol J. Saunders, Neil A. Miller, Vivekanand Singh, David L. Zwick, Charles C. Roberts, Jignesh Dalal, and Stephen F. Kingsmore (Article)
Structured Genome-Scale Variant and Clinical Data Reporting for Meta-Analysis in an Era of Genomic Medicine, Darrell L. Dinwiddie, Carol J. Saunders, Emily G. Farrow, Sarah E. Soden, Neil A. Miller, and Stephen F. Kingsmore (Article)
De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies., Darrell L. Dinwiddie, Sarah E. Soden, Carol J. Saunders, Neil A. Miller, Emily G. Farrow, Laurie D. Smith, and Stephen F. Kingsmore (Article)
An integrated clinico-metabolomic model improves prediction of death in sepsis., Raymond J. Langley, Ephraim L. Tsalik, Jennifer C. van Velkinburgh, Seth W. Glickman, Brandon J. Rice, Chunping Wang, Bo Chen, Lawrence Carin, Arturo Suarez, Robert P. Mohney, Debra H. Freeman, Mu Wang, Jinsam You, Jacob Wulff, J Will Thompson, M Arthur Moseley, Stephanie Reisinger, Brian T. Edmonds, Brian Grinnell, David R. Nelson, Darrell L. Dinwiddie, Neil A. Miller, Carol J. Saunders, Sarah Soden, Angela J. Rogers, Lee Gazourian, Laura E. Fredenburgh, Anthony F. Massaro, Rebecca M. Baron, Augustine M K Choi, G Ralph Corey, Geoffrey S. Ginsburg, Charles B. Cairns, Ronny M. Otero, Vance G. Fowler, Emanuel P. Rivers, Christopher W. Woods, and Stephen F. Kingsmore (Article)
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)
