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 2019
Mobility in osteogenesis imperfecta: a multicenter North American study., Karen M. Kruger, Angela Caudill, Mercedes Rodriguez Celin, Sandesh C S Nagamani, Jay R. Shapiro, Robert D. Steiner, Michael B. Bober, Tracy Hart, David Cuthbertson, Jeff Krischer, Peter H. Byers, Michaela Durigova, Francis H. Glorieux, Frank Rauch, V Reid Sutton, Brendan Lee, Eric T. Rush, Peter A. Smith, and Gerald F. Harris (Article)
Integrative analysis of vascular endothelial cell genomic features identifies AIDA as a coronary artery disease candidate gene., Simon Lalonde, Valérie-Anne Codina-Fauteux, Sébastian Méric de Bellefon, Francis Leblanc, Mélissa Beaudoin, Marie-Michelle Simon, Rola Dali, Tony Kwan, Ken Sin Lo, T Pastinen, and Guillaume Lettre (Article)
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)
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)
Epigenetic regulation of NfatC1 transcription and osteoclastogenesis by nicotinamide phosphoribosyl transferase in the pathogenesis of arthritis., Xuanan Li, Shamima Islam, Min Xiong, Ndona N. Nsumu, Mark W. Lee, Li Qin Zhang, Yasuyoshi Ueki, Daniel P. Heruth, Guanghua Lei, and Shui Qing Ye (Article)
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy., Anne H O'Donnell-Luria, Lynn S. Pais, Víctor Faundes, Jordan C. Wood, Abigail Sveden, Victor Luria, Rami Abou Jamra, Andrea Accogli, Kimberly Amburgey, Britt Marie Anderlid, Silvia Azzarello-Burri, Alice A. Basinger, Claudia Bianchini, Lynne M. Bird, Rebecca Buchert, Wilfrid Carre, Sophia Ceulemans, Perrine Charles, Helen Cox, Lisa Culliton, Aurora Currò, Deciphering Developmental Disorders (DDD) Study, Florence Demurger, James J. Dowling, Benedicte Duban-Bedu, Christèle Dubourg, Saga Elise Eiset, Luis F. Escobar, Alessandra Ferrarini, Tobias B. Haack, Mona Hashim, Solveig Heide, Katherine L. Helbig, Ingo Helbig, Raul Heredia, Delphine Héron, Bertrand Isidor, Amy R. Jonasson, Pascal Joset, Boris Keren, Fernando Kok, Hester Y. Kroes, Alinoë Lavillaureix, Xin Lu, Saskia M. Maas, Gustavo H B Maegawa, Carlo L M Marcelis, Paul R. Mark, Marcelo R. Masruha, Heather M. McLaughlin, Kirsty McWalter, Esther U. Melchinger, Saadet Mercimek-Andrews, Caroline Nava, Manuela Pendziwiat, Richard Person, Gian Paolo Ramelli, Luiza L P Ramos, Anita Rauch, Caitlin Reavey, Alessandra Renieri, Angelika Rieß, Amarilis Sanchez-Valle, Shifteh Sattar, Carol J. Saunders, Niklas Schwarz, Thomas Smol, Myriam Srour, Katharina Steindl, Steffen Syrbe, Jenny C. Taylor, Aida Telegrafi, Isabelle Thiffault, Doris A. Trauner, Helio van der Linden, Silvana van Koningsbruggen, Laurent Villard, Ida Vogel, Julie Vogt, Yvonne G. Weber, Ingrid M. Wentzensen, Elysa Widjaja, Jaroslav Zak, Samantha Baxter, Siddharth Banka, and Lance H. Rodan (Article)
Snord94 expression level alters methylation at C62 in snRNA U6., Allison Ogren, Nataliya Kibiryeva, Jennifer A. Marshall, James O'Brien, and Douglas C. Bittel (Article)
TREX-1-Related Disease Associated with the Presence of Cryofibrinogenemia., C Paradis, Maxime Cadieux-Dion, C Meloche, M Gravel, J Paradis, A Des Roches, G Leclerc, P Cossette, and P Begin (Article)
MAGEL2-related disorders: A study and case series., Jameson Patak, James Gilfert, Melissa Byler, Vamsee Neerukonda, Isabelle Thiffault, Laura A. Cross, Shivarajan Manickavasagam Amudhavalli, Marta Pacio-Miguez, Maria Palomares-Bralo, Sixto Garcia-Minaur, Fernando Santos-Simarro, Zoe Powis, Wendy Alcaraz, Sha Tang, Julie Jurgens, Brenda Barry, Eleina England, Elizabeth Engle, Jonathon Hess, and Robert R. Lebel (Article)
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)
A novel nonsense substitution identified in the AMIGO2 gene in an Occulo-Auriculo-Vertebral spectrum patient., Shankar Rengasamy Venugopalan, Emily G. Farrow, Pedro A. Sanchez-Lara, Stephen Yen, Michael Lypka, Shao Jiang, and Veerasathpurush Allareddy (Article)
Computational Analysis of HLA-presentation of Non-synonymous Recipient Mismatches Indicates Effect on the Risk of Chronic Graft-vs.-Host Disease After Allogeneic HSCT., Jarmo Ritari, Kati Hyvärinen, Satu Koskela, Riitta Niittyvuopio, Anne Nihtinen, Urpu Salmenniemi, Mervi Putkonen, Liisa Volin, Tony Kwan, T Pastinen, Maija Itälä-Remes, and Jukka Partanen (Article)
Rheumatoid arthritis-relevant DNA methylation changes identified in ACPA-positive asymptomatic individuals using methylome capture sequencing., Xiaojian Shao, Marie Hudson, Ines Colmegna, Celia M T Greenwood, Marvin J. Fritzler, Philip Awadalla, T Pastinen, and Sasha Bernatsky (Article)
Identification of Novel Regulatory Genes in APAP Induced Hepatocyte Toxicity by a Genome-Wide CRISPR-Cas9 Screen., Katherine Shortt, Daniel P. Heruth, NiNi Zhang, Weibin Wu, Shipra Singh, Ding-You Li, Li Qin Zhang, Gerald J. Wyckoff, Lei S Qi, Craig A. Friesen, and Shui Qing Ye (Article)
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy., Ewen W. Sommerville, Xiao-Long Zhou, Monika Oláhová, Janda L. Jenkins, Liliya Euro, Svetlana Konovalova, Taru Hilander, Angela Pyle, Langping He, Sultan Habeebu, Carol J. Saunders, Anna Kelsey, Andrew A M Morris, Robert McFarland, Anu Suomalainen, Gráinne S. Gorman, En-Duo Wang, Isabelle Thiffault, Henna Tyynismaa, and Robert W. Taylor (Article)
Clinical genome sequencing in an unbiased pediatric cohort., Isabelle Thiffault, Emily G. Farrow, Lee Zellmer, Courtney D. Berrios, Neil Miller, Margaret Gibson, Raymond Caylor, Janda L. Jenkins, Deb Faller, Sarah E. Soden, and Carol J. Saunders (Article)
Mendelian Randomization Analysis Reveals a Causal Influence of Circulating Sclerostin Levels on Bone Mineral Density and Fractures., Jie Zheng, Winfried Maerz, Ingrid Gergei, Marcus Kleber, Christiane Drechsler, Christoph Wanner, Vincent Brandenburg, Sjur Reppe, Kaare M. Gautvik, Carolina Medina-Gomez, Enisa Shevroja, Arthur Gilly, Young-Chan Park, George Dedoussis, Eleftheria Zeggini, Mattias Lorentzon, Petra Henning, Ulf H. Lerner, Karin H. Nilsson, Sofia Movérare-Skrtic, Denis Baird, Benjamin Elsworth, Louise Falk, Alix Groom, Terence D. Capellini, Elin Grundberg, Maria Nethander, Claes Ohlsson, George Davey Smith, and Jonathan H. Tobias (Article)
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement., Marcella Zollino, Christiane Zweier, Ingrid D. Van Balkom, David A. Sweetser, Joseph Alaimo, Emilia K. Bijlsma, Jannine Cody, Sarah H. Elsea, Irina Giurgea, Marina Macchiaiolo, Robert Smigiel, Ronald L. Thibert, Ingrid Benoist, Jill Clayton-Smith, Channa F. De Winter, Stijn Deckers, Anusha Gandhi, Sylvia Huisman, Dagmar Kempink, Frea Kruisinga, Vittoria Lamacchia, Giuseppe Marangi, Leonie Menke, Paul Mulder, Ann Nordgren, Alessandra Renieri, Sue Routledge, Carol J. Saunders, Agnieszka Stembalska, Hans Van Balkom, Sandra Whalen, and Raoul C. Hennekam (Article)
Works from 2018
Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings., R C Caylor, L Grote, Isabelle Thiffault, Emily G. Farrow, Laurel K. Willig, Sarah E. Soden, Shivarajan Manickavasagam Amudhavalli, Amy J. Nopper, Kimberly A. Horii, Emily Fleming, Janda L. Jenkins, Holly Welsh, Mohammed Ilyas, Kendra Engleman, Ahmed Abdelmoity, and Carol J. Saunders (Article)
Variation among Consent Forms for Clinical Whole Exome Sequencing., Sara A Fowler, Carol J. Saunders, and Mark A Hoffman (Article)
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)
Juvenile myelomonocytic leukemia with t(3;5)(q25;q35), Auer rods and marked myelodysplasia., Weijie Li, Linda D. Cooley, and Keith August (Article)
Novel mosaic SRY gene deletions in three newborn males with variable genitourinary malformations., Jennifer Roberts, Dmitry Lyalin, Norwood Tosatto, Pratibha Rana, Hiba Fadoul, Holly Welsh, Lei Zhang, Linda D. Cooley, and Elena Repnikova (Article)
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)
Spurious testosterone laboratory results in a patient taking synthetic alkaline phosphatase (asfotase alfa)., Alina G. Sofronescu, Meredith Ross, Eric T. Rush, and Whitney Goldner (Article)
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)
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)
Proteomics of human liver membrane transporters: a focus on fetuses and newborn infants., Bianca D. van Groen, Evita van de Steeg, Miriam G. Mooij, Marola M H van Lipzig, Barbara A E de Koning, Robert M. Verdijk, Heleen M. Wortelboer, R Gaedigk, Chengpeng Bi, J Steven Leeder, Ron H N van Schaik, Joost van Rosmalen, Dick Tibboel, Wouter H. Vaes, and Saskia N. de Wildt (Article)
Works from 2017
Genetic Predictors of Susceptibility to Dermatophytoses., Susan M. Abdel-Rahman (Article)
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)
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)
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)
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)
Genetic alterations in necrotizing enterocolitis., Alain Cuna and Venkatesh Sampath (Article)
Prediction of CYP2D6 phenotype from genotype across world populations., Andrea Gaedigk, Katrin Sangkuhl, Michelle Whirl-Carrillo, Teri Klein, and J Steven Leeder (Article)
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 A. Lowry, Sarah E. Soden, and Neil A. Miller (Article)
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)
GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant., Michelle M. Giddens, Jennifer C. Wong, Jason P. Schroeder, Emily G. Farrow, Brilee M. Smith, Sharon Owino, Sarah E. Soden, Rebecca C. Meyer, Carol J. Saunders, Jean-Baptist LePichon, David Weinshenker, Andrew Escayg, and Randy A. Hall (Article)
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)
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)
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)
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)
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)
