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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Works from 2020

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Immune checkpoint modulation enhances HIV-1 antibody induction., Todd Bradley, Masayuki Kuraoka, Chen-Hao Yeh, Ming Tian, Huan Chen, Derek W Cain, Xuejun Chen, Cheng Cheng, Ali H Ellebedy, Robert Parks, Maggie Barr, Laura L. Sutherland, Richard M. Scearce, Cindy M. Bowman, Hilary Bouton-Verville, Sampa Santra, Kevin Wiehe, Mark G. Lewis, Ane Ogbe, Persephone Borrow, David Montefiori, Mattia Bonsignori, M Anthony Moody, Laurent Verkoczy, Kevin O. Saunders, Rafi Ahmed, John R. Mascola, Garnett Kelsoe, Frederick W. Alt, and Barton F. Haynes (Article)

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De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation., Dongxue Mao, Chloe M. Reuter, Maura RZ Ruzhnikov, Anita E. Beck, Emily G. Farrow, Lisa T. Emrick, Jill A. Rosenfeld, Katherine M. Mackenzie, Laurie Robak, Matthew T. Wheeler, Lindsay C Burrage, Mahim Jain, Pengfei Liu, Daniel Calame, Sébastien Küry, Martin Sillesen, Klaus Schmitz-Abe, Davide Tonduti, Luigina Spaccini, Maria Iascone, Casie A. Genetti, Mary K. Koenig, Madeline Graf, Alyssa Tran, Mercedes Alejandro, Undiagnosed Diseases Network, Brendan H. Lee, Isabelle Thiffault, Pankaj B. Agrawal, Jonathan A Bernstein, Hugo J. Bellen, and Hsiao-Tuan Chao (Article)

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Targeting Natural Killer Cells for Improved Immunity and Control of the Adaptive Immune Response., Stephen Pierce, Eric S. Geanes, and Todd Bradley (Article)

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Single-cell analysis of human adipose tissue identifies depot and disease specific cell types., Jinchu Vijay, Marie-Frédérique Gauthier, Rebecca L. Biswell, Daniel A. Louiselle, Jeffrey J. Johnston, Warren A. Cheung, Bradley Belden, Albena Pramatarova, Laurent Biertho, Margaret Gibson, Marie-Michelle Simon, Haig Djambazian, Multiple Tissue Human Expression Resource Consortium, Alfredo Staffa, Guillaume Bourque, Anita Laitinen, Johanna Nystedt, Marie-Claude Vohl, Jason D. Fraser, T Pastinen, André Tchernof, and Elin Grundberg (Article)

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Impact of SLCO1B1 Genetic Variation on Rosuvastatin Systemic Exposure in Pediatric Hypercholesterolemia., Jonathan B. Wagner, Susan M. Abdel-Rahman, Andrea Gaedigk, R Gaedigk, Geetha Raghuveer, Vincent S. Staggs, Leon Van Haandel, and J Steven Leeder (Article)

Works from 2019

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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 (Article)

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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 (Article)

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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 (Article)

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Using the diffusion of innovations model to guide participant engagement in the genomics era., Katie L. Lewis, Flavia M. Facio, and Courtney D. Berrios (Article)

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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 (Article)

Works from 2018

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

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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 (Article)

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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 (Article)

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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 (Article)

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Building a Bridge Between Genetics and Outcomes Research: Application in Autism (The AutGO Study)., Zohreh Talebizadeh, Ayten Shah, and PCORI EAIN-2419 Working Group (Article)

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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 (Article)

Works from 2017

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

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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 (Article)

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Genomics of primary chemoresistance and remission induction failure in paediatric and adult acute myeloid leukaemia., Fiona C. Brown, Paolo Cifani, Esther Drill, Jie He, Eric Still, Shan Zhong, Sohail Balasubramanian, Dean Pavlick, Bahar Yilmazel, Kristina M. Knapp, Todd A. Alonzo, Soheil Meshinchi, Richard M. Stone, Steven M. Kornblau, Guido Marcucci, Alan S. Gamis, John C. Byrd, Mithat Gonen, Ross L. Levine, and Alex Kentsis (Article)

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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 (Article)

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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 (Article)

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

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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 (Article)

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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 (Article)

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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 (Article)

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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 (Article)

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Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene., Kristin D. Kernohan, David A. Dyment, Mihaela Pupavac, Zvi Cramer, Arran McBride, Genevieve Bernard, Isabella Straub, Martine Tetreault, Taila Hartley, Lijia Huang, Erick Sell, Jacek Majewski, David S Rosenblatt, Eric Shoubridge, Aziz Mhanni, Tara Myers, Virginia Proud, Samanta Vergano, Brooke Spangler, Emily Farrow, Jennifer Kussman, Nicole Safina, Carol Saunders, Kym M. Boycott, and Isabelle Thiffault (Article)

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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 (Article)

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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)

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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)

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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 (Article)

Works 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 (Article)

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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 (Article)

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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 (Article)

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

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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 (Article)

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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 (Article)

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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)

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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 (Article)

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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 (Article)

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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 (Article)

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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 (Article)

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

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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)

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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 (Article)

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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 (Article)

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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 (Article)

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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 (Article)

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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 (Article)

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

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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)

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

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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 (Article)

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

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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 (Article)

Works from 2015

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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)

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The Future of Next-Generation Sequencing in Neurology., Jean-Baptiste LePichon, Carol J. Saunders, and Sarah E. Soden (Article)

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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)

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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 (Article)

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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)

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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)

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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)

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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)

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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)

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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)

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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

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D_CDF Test of Negative Log Transformed P-values with Application to Genetic Pathway Analysis, Hongying Dai and Richard Charnigo (Article)

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A modified generalized Fisher method for combining probabilities from dependent tests., Hongying Dai, J Steven Leeder, and Yuehua Cui (Article)

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Hypothesis Testing in Normal Admixture Models to Detect Heterogeneous Genetic Signals, Qian Fan, Richard Charnigo, Zohreh Talebizadeh, and Hongying Dai (Article)

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Individualizing the use of medications in children: making Goldilocks happy., James S. Leeder, J T. Brown, and Sarah E. Soden (Article)

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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)

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N-of-1 genomic medicine for the rare pediatric genetic diseases, Laurie D. Smith and Stephen F. Kingsmore (Article)

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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)

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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

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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)

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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)

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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)

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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)

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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

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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)

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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 (Article)

Works from 2011

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

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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 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 (Article)

Works from 2007

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