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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Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes., Elizabeth J. Bhoj, Damien Haye, Annick Toutain, Dominique Bonneau, Irene Kibæk Nielsen, Ida Bay Lund, Pauline Bogaard, Stine Leenskjold, Kadri Karaer, Katherine T. Wild, Katheryn L. Grand, Mirena C. Astiazaran, Luis A. Gonzalez-Nieto, Ana Carvalho, Daphné Lehalle, Shivarajan M. Amudhavalli, Elena Repnikova, Carol J. Saunders, Isabelle Thiffault, Irfan Saadi, Dong Li, Hakon Hakonarson, Yoann Vial, Elaine Zackai, Patrick Callier, Séverine Drunat, and Alain Verloes

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CYP2C9*61, a rare missense variant identified in a Puerto Rican patient with low warfarin dose requirements., Karla I. Claudio-Campos, Pablo González-Santiago, Jessica Y. Renta, Jovaniel Rodríguez, Kelvin Carrasquillo, Andrea Gaedigk, Abiel Roche, and Jorge Ducongé

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The Case for Pharmacogenetics-Guided Prescribing of Codeine in Children., Roseann S. Gammal, Kelly E. Caudle, Charles T. Quinn, Winfred C. Wang, Andrea Gaedigk, Cynthia A. Prows, Cyrine E. Haidar, Annette K. Taylor, Teri E. Klein, Katrin Sangkuhl, Jane S. Hankins, and Kristine R. Crews

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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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Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6., Austin A. Larson, Shanti Balasubramaniam, John Christodoulou, Lindsay C. Burrage, Ronit Marom, Brett H. Graham, George A. Diaz, Emma Glamuzina, Natalie Hauser, Bryce Heese, Gabriella Horvath, Andre Mattman, Clara van Karnebeek, S Lane Rutledge, Amy Williamson, Lissette Estrella, Johan K L Van Hove, and James D. Weisfeld-Adams

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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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Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detection., Wanqiong Qiao, Suparna Martis, Geetu Mendiratta, Lisong Shi, Mariana R. Botton, Yao Yang, Andrea Gaedigk, Raymon Vijzelaar, Lisa Edelmann, Ruth Kornreich, Robert J. Desnick, and Stuart A. Scott

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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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Genomic prediction of relapse in recipients of allogeneic haematopoietic stem cell transplantation., J Ritari, K Hyvärinen, S Koskela, M Itälä-Remes, R Niittyvuopio, A Nihtinen, U Salmenniemi, M Putkonen, L Volin, T Kwan, T Pastinen, and J Partanen

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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

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Lessons learned from the DFNA37 gene discovery odyssey., Zohreh Talebizadeh

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The copy number variation landscape of congenital anomalies of the kidney and urinary tract., Miguel Verbitsky, Rik Westland, Alejandra Perez, Krzysztof Kiryluk, Qingxue Liu, Priya Krithivasan, Adele Mitrotti, David A. Fasel, Ekaterina Batourina, Matthew G. Sampson, Monica Bodria, Max Werth, Charlly Kao, Jeremiah Martino, Valentina P. Capone, Asaf Vivante, Shirlee Shril, Byum Hee Kil, Maddalena Marasà, Jun Y. Zhang, Young-Ji Na, Tze Y. Lim, Dina Ahram, Patricia L. Weng, Erin L. Heinzen, Alba Carrea, Giorgio Piaggio, Loreto Gesualdo, Valeria Manca, Giuseppe Masnata, Maddalena Gigante, Daniele Cusi, Claudia Izzi, Francesco Scolari, Joanna A E van Wijk, Marijan Saraga, Domenico Santoro, Giovanni Conti, Pasquale Zamboli, Hope White, Dorota Drozdz, Katarzyna Zachwieja, Monika Miklaszewska, Marcin Tkaczyk, Daria Tomczyk, Anna Krakowska, Przemyslaw Sikora, Tomasz Jarmoliński, Maria K. Borszewska-Kornacka, Robert Pawluch, Maria Szczepanska, Piotr Adamczyk, Malgorzata Mizerska-Wasiak, Grazyna Krzemien, Agnieszka Szmigielska, Marcin Zaniew, Mark G. Dobson, John M. Darlow, Prem Puri, David E. Barton, Susan L. Furth, Bradley A. Warady, Zoran Gucev, Vladimir J. Lozanovski, Velibor Tasic, Isabella Pisani, Landino Allegri, Lida M. Rodas, Josep M. Campistol, Cécile Jeanpierre, Shumyle Alam, Pasquale Casale, Craig S. Wong, Fangming Lin, Débora M. Miranda, Eduardo A. Oliveira, Ana Cristina Simões-E-Silva, Jonathan M. Barasch, Brynn Levy, Nan Wu, Friedhelm Hildebrandt, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna Materna-Kiryluk, Feng Zhang, Hakon Hakonarson, Virginia E. Papaioannou, Cathy L. Mendelsohn, Ali G. Gharavi, and Simone Sanna-Cherchi

Papers from 2018

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HLA-DQA1 and APOL1 as Risk Loci for Childhood-Onset Steroid-Sensitive and Steroid-Resistant Nephrotic Syndrome., Adebowale Adeyemo, Christopher Esezobor, Adaobi Solarin, Asiri Abeyagunawardena, Jameela A. Kari, Sherif El Desoky, Larry A. Greenbaum, Margret Kamel, Mahmoud Kallash, Cynthia Silva, Alex Young, Tracey E. Hunley, Nilka de Jesus-Gonzalez, Tarak Srivastava, and Rasheed Gbadegesin

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Precision Medicine in Pediatric Cancer: Current Applications and Future Prospects., Atif Ahmed, Divya S. Vundamati, Midhat S. Farooqi, and Erin M. Guest

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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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Genetic predisposition to necrotizing enterocolitis in premature infants: Current knowledge, challenges, and future directions., Alain Cuna, Lovya George, and Venkatesh Sampath

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An eQTL Landscape of Kidney Tissue in Human Nephrotic Syndrome., Christopher E. Gillies, Rosemary Putler, Rajasree Menon, Edgar Otto, Kalyn Yasutake, Viji Nair, Paul Hoover, David Lieb, Shuqiang Li, Sean Eddy, Damian Fermin, Michelle T. McNulty, Nephrotic Syndrome Study Network (NEPTUNE), Nir Hacohen, Krzysztof Kiryluk, Matthias Kretzler, Xiaoquan Wen, Matthew G. Sampson, and Tarak Srivastava

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Subject level clustering using a negative binomial model for small transcriptomic studies., Qian Li, Janelle R. Noel-Macdonnell, Devin C. Koestler, Ellen L. Goode, and Brooke L. Fridley

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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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Biparental/androgenetic mosaicism in a male with features of overgrowth and placental mesenchymal dysplasia., E Repnikova, J Roberts, Alexander Kats, S Habeebu, C Schwager, J Joyce, M Manalang, and S M. Amudhavalli

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Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies., Mary Scott Roberts, Peter D. Burbelo, Daniela Egli-Spichtig, Farzana Perwad, Christopher J. Romero, Shoji Ichikawa, Emily G. Farrow, Michael J. Econs, Lori C. Guthrie, Michael T. Collins, and Rachel I. Gafni

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Mechanotransduction signaling in podocytes from fluid flow shear stress., Tarak Srivastava, Hongying Dai, Daniel P. Heruth, Uri S. Alon, Robert E. Garola, Jianping Zhou, R Scott Duncan, Ashraf El-Meanawy, Ellen T. McCarthy, Ram Sharma, Mark L. Johnson, Virginia J. Savin, and Mukut Sharma

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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

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Impact of SLCO1B1 Genotype on Pediatric Simvastatin Acid Pharmacokinetics., Jonathan B. Wagner, Susan M. Abdel-Rahman, Leon Van Haandel, Andrea Gaedigk, R Gaedigk, Geetha Raghuveer, Ralph Kauffman, and J Steven Leeder

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Regulators of Oncogenic Mutant TP53 Gain of Function., Satomi Yamamoto and Tomoo Iwakuma

Papers from 2017

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

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Newborn Sequencing in Genomic Medicine and Public Health., Jonathan S. Berg, Pankaj B. Agrawal, Donald B. Bailey, Alan H. Beggs, Steven E. Brenner, Amy M. Brower, Julie A. Cakici, Ozge Ceyhan-Birsoy, Kee Chan, Flavia Chen, Robert J. Currier, Dmitry Dukhovny, Robert C. Green, Julie Harris-Wai, Ingrid A. Holm, Brenda Iglesias, Galen Joseph, Stephen F. Kingsmore, Barbara A. Koenig, Pui-Yan Kwok, John Lantos, J Steven Leeder, Megan A. Lewis, Amy L. McGuire, Laura V. Milko, Sean D. Mooney, Richard B. Parad, Stacey Pereira, Josh E. Petrikin, Bradford C. Powell, Cynthia M. Powell, Jennifer M. Puck, Heidi L. Rehm, Neil Risch, Myra Roche, Joseph T. Shieh, Narayanan Veeraraghavan, Michael S. Watson, Laurel K. Willig, Timothy W. Yu, Tiina Urv, and Anastasia L. Wise

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Genomic Contraindications for Heart Transplantation., Danton S. Char, Gabriel Lázaro-Muñoz, Aliessa Barnes, David Magnus, Michael J. Deem, and John Lantos

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Biochemical and Biophysical Methods for Analysis of Poly(ADP-Ribose) Polymerase 1 and Its Interactions with Chromatin., Maggie H. Chassé, Uma M. Muthurajan, Nicholas J. Clark, Michael A. Kramer, Srinivas Chakravarthy, Thomas Irving, and Karolin Luger

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Impact of CYP2D6 genotype on amitriptyline efficacy for the treatment of diabetic peripheral neuropathy: a pilot study., Mamoonah Chaudhry, Marco Alessandrini, Jacobus Rademan, Tyren M. Dodgen, Francois E. Steffens, Danie G. van Zyl, Andrea Gaedigk, and Michael S. Pepper

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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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In vivo characterization of CYP2D6*12, *29 and *84 using dextromethorphan as a probe drug: a case report., Andrea Gaedigk, Greyson P. Twist, Emily G. Farrow, Jennifer Lowry, Sarah E. Soden, and Neil A. Miller

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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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MC-PPEA as a new and more potent inhibitor of CLP-induced sepsis and pulmonary inflammation than FK866., Peixin Huang, Mark W Lee, Keivan Sadrerafi, Daniel P. Heruth, Li Q. Zhang, Dev Maulik, and Shui Qing Ye

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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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Genetic Drivers of Kidney Defects in the DiGeorge Syndrome., Esther Lopez-Rivera, Yangfan P. Liu, Miguel Verbitsky, Blair R. Anderson, Valentina P. Capone, Edgar A. Otto, Zhonghai Yan, Adele Mitrotti, Jeremiah Martino, Nicholas J. Steers, David A. Fasel, Katarina Vukojevic, Rong Deng, Silvia E. Racedo, Qingxue Liu, Max Werth, Rik Westland, Asaf Vivante, Gabriel S. Makar, Monica Bodria, Matthew G. Sampson, Christopher E. Gillies, Virginia Vega-Warner, Mariarosa Maiorana, Donald S. Petrey, Barry Honig, Vladimir J. Lozanovski, Rémi Salomon, Laurence Heidet, Wassila Carpentier, Dominique Gaillard, Alba Carrea, Loreto Gesualdo, Daniele Cusi, Claudia Izzi, Francesco Scolari, Joanna A E van Wijk, Adela Arapovic, Mirna Saraga-Babic, Marijan Saraga, Nenad Kunac, Ali Samii, Donna M. McDonald-McGinn, Terrence B. Crowley, Elaine H. Zackai, Dorota Drozdz, Monika Miklaszewska, Marcin Tkaczyk, Przemyslaw Sikora, Maria Szczepanska, Malgorzata Mizerska-Wasiak, Grazyna Krzemien, Agnieszka Szmigielska, Marcin Zaniew, John M. Darlow, Prem Puri, David Barton, Emilio Casolari, Susan L. Furth, Bradley A. Warady, Zoran Gucev, Hakon Hakonarson, Hana Flogelova, Velibor Tasic, Anna Latos-Bielenska, Anna Materna-Kiryluk, Landino Allegri, Craig S. Wong, Iain A Drummond, Vivette D'Agati, Akira Imamoto, Jonathan M. Barasch, Friedhelm Hildebrandt, Krzysztof Kiryluk, Richard P. Lifton, Bernice E. Morrow, Cecile Jeanpierre, Virginia E. Papaioannou, Gian Marco Ghiggeri, Ali G. Gharavi, Nicholas Katsanis, and Simone Sanna-Cherchi

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Surrogate Pregnancy After Prenatal Diagnosis of Spina Bifida., Lynnette J. Mazur, Mary Kay Kisthardt, Helen H. Kim, Laura M. Rosas, and John Lantos

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Immunodeficiency-Associated Lymphoid Hyperplasia As a Cause of Intussusception in a Case of Activated PI3K-δ Syndrome., Daniel Mettman, Isabelle Thiffault, Chitra Dinakar, and Carol J. Saunders

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A Novel Compound-Heterozygous Epithelial Cell Adhesion Molecule Mutation in Tufting Enteropathy., Valentina Shakhnovich, Darrell Dinwiddie, Amber Hildreth, Thomas M. Attard, and Stephen Kingsmore

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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

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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

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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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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Pharmacogenetic comparison of CYP2D6 predictive and measured phenotypes in a South African cohort., T M. Dodgen, C De J De J Labuschagne, A van Schalkwyk, F E. Steffens, Andrea Gaedigk, A D. Cromarty, M Alessandrini, and M S. Pepper

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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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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

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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

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RalA is overactivated in medulloblastoma., Kevin F. Ginn, Ben Fangman, Kaoru Terai, Amanda Wise, Daniel Ziazadeh, Kushal Shah, Robyn Gartrell, Brandon Ricke, Kyle Kimura, Sharad Mathur, Emma Borrego-Diaz, and Faris Farassati

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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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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

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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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Erratum to: High expression of myocyte enhancer factor 2C (MEF2C) is associated with adverse-risk features and poor outcome in pediatric acute myeloid leukemia: a report from the Children's Oncology Group., George S. Laszlo, Todd A. Alonzo, Chelsea J. Gudgeon, Kimberly H. Harrington, Alex Kentsis, Robert B. Gerbing, Yi-Cheng Wang, Rhonda E. Ries, Susana C. Raimondi, Betsy A. Hirsch, A S. Gamis, Soheil Meshinchi, and Roland B. Walter

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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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miR-155 expression and correlation with clinical outcome in pediatric AML: A report from Children's Oncology Group., Ranjani Ramamurthy, Maya Hughes, Valerie Morris, Hamid Bolouri, Robert B. Gerbing, Yi-Cheng Wang, Michael R. Loken, Susana C. Raimondi, Betsy A. Hirsch, A S. Gamis, Vivian G. Oehler, Todd A. Alonzo, and Soheil Meshinchi

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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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Expert opinion and caution are imperative for interpretation of next generation sequencing data., Isabelle Thiffault and Geneviève Bernard

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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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Pediatric Statin Administration: Navigating a Frontier with Limited Data., Jonathan B. Wagner and Susan M. Abdel-Rahman

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

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Renal and Cardiovascular Morbidities Associated with APOL1 Status among African-American and Non-African-American Children with Focal Segmental Glomerulosclerosis., Robert P. Woroniecki, Derek K. Ng, Sophie Limou, Cheryl A. Winkler, Kimberly J. Reidy, Mark Mitsnefes, Matthew G. Sampson, Craig S. Wong, Bradley A. Warady, Susan L. Furth, Jeffrey B. Kopp, and Frederick J. Kaskel

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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

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Pediatric pharmacogenomics: a systematic assessment of ontogeny and genetic variation to guide the design of statin studies in children., Jonathan B. Wagner and J Steven Leeder

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Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred., Y Yu, S R. Sanderson, M Reyes, A Sharma, N Dunbar, Tarak Srivastava, H Jüppner, and C Bergwitz

Papers from 2011

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

Papers from 2010

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Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor., Peter J. Malloy, Jining Wang, Tarak Srivastava, and David Feldman

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 2005

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Current issues and perspectives in hypoplasia of the left heart., David Sedmera, Andrew C. Cook, Girish S. Shirali, and Tim C. McQuinn

Papers from 2002

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Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene., Tarak Srivastava, J Patrick O'Neill, Majed Dasouki, and Ari M. Simckes

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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

Papers from 2001

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Association of viral genome with transplant coronary arteriopathy and graft loss in children following cardiac transplantation., N E. Bowles, Girish S. Shirali, R E. Chinnock, G L. Rosenthal, and J A. Towbin

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Association of viral genome with graft loss in children after cardiac transplantation., Girish S. Shirali, J Ni, R E. Chinnock, J K. Johnston, G L. Rosenthal, N E. Bowles, and J A. Towbin

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Podocyte proteins in Galloway-Mowat syndrome., Tarak Srivastava, J M. Whiting, Robert E. Garola, M J. Dasouki, V Ruotsalainen, K Tryggvason, R Hamed, and Uri S. Alon