Works from 2023
Novel blended SNRPE-related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia., Shivarajan Manickavasagam Amudhavalli, Vitoria Paolillo, Caitlin E. Lawson, Melanie Patterson, Jennifer Kussman, Amy J. Nopper, Michael Lypka, and Carol J. Saunders (Article)
The effect of burosumab on intact and C-terminal FGF23 measurements., Susan Louise Ashrafzadeh-Kian, Nobuaki Ito, Tarak Srivastava, Uttam Garg, Hajime Kato, Alicia Algeciras-Schimnich, and Joshua A. Bornhorst (Article)
Evaluation of a Delta-9-Tetrahydrocannabinol Carboxylic Acid (Δ9-THC-COOH) Immunoassay and a Gas Chromatography-Mass Spectrometry (GC-MS) Method for the Detection of Delta-8-Tetrahydrocannabinol Carboxylic Acid (Δ8-THC-COOH)., Serena N. Baird, C. Clinton Frazee III, and Uttam Garg (Article)
Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome c oxidase deficiency: a case report, Alexandra Chapleau, Renée-Myriam Boucher, T Pastinen, Isabelle Thiffault, Peter V. Gould, and Geneviève Bernard (Article)
Integrated genetic profiling of archival pediatric high-grade glial tumors and reassessment with 2021 WHO classification of paediatric CNS tumours, Linda D. Cooley, Lisa A. Lansdon, Kris Laurence, John Herriges, Lei Zhang, Elena Repnikova, Julie M. Joyce, Preeti Thakor, Lisa Warren, Scott C. Smith, Byunggil Yoo, Melissa Gener, Kevin Ginn, and Midhat S. Farooqi (Article)
Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia., Florencia Del Viso, Dihong Zhou, Isabelle Thiffault, Caitlin E. Lawson, Laura A. Cross, Janda L. Jenkins, Eric T. Rush, and Carol J. Saunders (Article)
Multicenter Evaluation of the DiaSorin Molecular Simplexa Congenital CMV Direct PCR Test on Neonatal Saliva and Urine Specimens., James J. Dunn, Rangaraj Selvarangan, Kevin Maggert, Stephen Young, and Amy L. Leber (Article)
A Case of Hexasomy 15q due to a Tricentric Supernumerary Chromosome 15, Emily Farrow, Laura A. Cross, Bonnie Sullivan, Keely M. Fitzgerald, Joseph Alaimo, Elena Repnikova, John Herriges, and Lei Zhang (Poster)
Evaluating the Impact of Long Read Genomes in Rare Disease: A systematic analysis of 1000 HiFi Genomes, Emily Farrow, Isabelle Thiffault, Ana S A Cohen, Tricia N. Zion, Adam Walter, Margaret Gibson, Chengpeng Bi, Warren A. Cheung, Jeffrey J. Johnston, and T Pastinen (Poster)
Quantitation of Mycophenolic Acid and Mycophenolic Acid Glucuronide in Serum or Plasma by LC-MS/MS., Uttam Garg, Ada Munar, and C. Clinton Frazee III (Article)
Notes from the Field: Multipathogen Respiratory Virus Testing Among Primary and Secondary School Students and Staff Members in a Large Metropolitan School District - Missouri, November 2, 2022-April 19, 2023., Jennifer Goldman, Brian R. Lee, Janelle Porter, Anila Deliu, Shannon Tilsworth, Olivia M. Almendares, Sadia Sleweon, Hannah L. Kirking, Rangaraj Selvarangan, and Jennifer E. Schuster (Article)
Perinucleolar Compartment (PNC) Prevalence as an Independent Prognostic Factor in Pediatric Ewing Sarcoma: A Multi-Institutional Study., Elizabeth Gonzalez, Atif A. Ahmed, Laura McCarthy, Katherine Chastain, Sahibu Sultan M Habeebu, Marta Zapata-Tarres, Rocio Cardenas-Cardos, Liliana Velasco-Hidalgo, Celso Corcuera-Delgado, Rodolfo Rodriguez-Jurado, Lilia García-Rodríguez, Alejandro Parrales, Tomoo Iwakuma, Midhat S. Farooqi, Brian R. Lee, Scott J. Weir, and Terrie Flatt (Article)
Prevalence and clinical presentation of EV-D68 infections in Kansas City children during the 2022 season., Stephanie Gummersheimer, Amanda Hayes, Christopher J. Harrison, Brian R. Lee, Jennifer E. Schuster, Minati Dhar, Anjana Sasidharan, Dithi Banerjee, and Rangaraj Selvarangan (Article)
Detection of Enterovirus D68 in Samples Enrolled in the New Vaccine Surveillance Network from January to December 2022, Amanda Hayes, Dithi Banerjee, Anjana Sasidharan, Minati Dhar, Gina Weddle, Kirsten Weltmer, Jennifer E. Schuster, Mary Moffatt, and Rangaraj Selvarangan
SARS-CoV-2 Screening Testing Programs for Safe In-person Learning in K-12 Schools., Ibukunoluwa C. Kalu, Kanecia O. Zimmerman, Jennifer Goldman, Dana Keener Mast, Ashley M. Blakemore, Ganga Moorthy, Angelique E. Boutzoukas, Melissa M. Campbell, Diya Uthappa, Jesse DeLaRosa, Jessica M. Potts, Laura J. Edwards, Rangaraj Selvarangan, Daniel K. Benjamin, Tara K. Mann, and Jennifer E. Schuster (Article)
Comparative in vitro antipseudomonal activity of ceftolozane/tazobactam against Pseudomonas aeruginosa isolates from children with cystic fibrosis., Neena Kanwar, Christopher J. Harrison, Morgan A. Pence, Xuan Qin, and Rangaraj Selvarangan (Article)
Impact of Rapid Molecular Multiplex Gastrointestinal Pathogen Testing in Management of Children during a Shigella Outbreak, Neena Kanwar, J Jackson, T Bardsley, A Pavia, K M Bourzac, K Holmberg, and Rangaraj Selvarangan (Article)
Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes., Lisa A. Lansdon, Amanda Dickinson, Sydney Arlis, Huan Liu, Arman Hlas, Alyssa Hahn, Greg Bonde, Abby Long, Jennifer Standley, Anastasia Tyryshkina, George Wehby, Nanette R. Lee, Sandra Daack-Hirsch, Karen Mohlke, Santhosh Girirajan, Benjamin W. Darbro, Robert A. Cornell, Douglas W. Houston, Jeffrey C. Murray, and J Robert Manak (Article)
Oropharyngeal Teratoma: Five-Month-Old Presenting With Failure to Thrive and Severe Obstructive Sleep Apnea., Anna Lawrence, Melissa Gener, Shao Jiang, and Jill M. Arganbright (Article)
Disruption of seasonal enterovirus and parechovirus detections in the CSF and plasma of children during the COVID-19 pandemic., Brian R. Lee, Anjana Sasidharan, Christopher J. Harrison, and Rangaraj Selvarangan (Article)
Intrathymic AAV gene delivery, Weijie Li (Editorial)
Prevalence of COVID-19 Infections in Kansas City Children Enrolled in the New Vaccine Surveillance Network, Micah McGlaughlin, Anjana Sasidharan, Dithi Banerjee, Mary Moffatt, Jennifer Schuster, Gina Weddle, Kirsten Weltmer, and Rangaraj Selvarangan
Therapeutic targeting of prenatal pontine ID1 signaling in diffuse midline glioma., Dana Messinger, Micah K. Harris, Jessica R. Cummings, Chase Thomas, Tao Yang, Stefan R. Sweha, Rinette Woo, Robert Siddaway, Martin Burkert, Stefanie Stallard, Tingting Qin, Brendan Mullan, Ruby Siada, Ramya Ravindran, Michael Niculcea, Abigail R. Dowling, Joshua Bradin, Kevin Ginn, Melissa Gener, Kathleen Dorris, Nicholas A. Vitanza, Susanne V. Schmidt, Jasper Spitzer, Jiang Li, Mariella G. Filbin, Xuhong Cao, Maria G. Castro, Pedro R. Lowenstein, Rajen Mody, Arul Chinnaiyan, Pierre-Yves Desprez, Sean McAllister, Matthew D. Dun, Cynthia Hawkins, Sebastian M. Waszak, Sriram Venneti, Carl Koschmann, and Viveka Nand Yadav (Article)
Humoral and cellular response to the COVID-19 vaccine in immunocompromised children., Heather A. Morgans, Todd Bradley, Linda Flebbe-Rehwaldt, Rangaraj Selvarangan, Amber Bagherian, Aliessa P. Barnes, Julie A. Bass, Ashley M. Cooper, Ryan T. Fischer, Steve Kleiboeker, Brian R. Lee, Cas LeMaster, Kelsey Markus, Stephen Morrison, Angela Myers, Douglas Myers, Erin Payne, Jennifer E. Schuster, Sarah Standley, Andrea B. Wieser, and Bradley A. Warady (Article)
A genomics driven pluripotent stem cell model of infant acute lymphoblastic leukemia, Jacqelyn Nemechek, Julia Draper, Sarah McDermott, Irina Pushel, Midhat S. Farooqi, Erin M. Guest, John M. Perry, and Jay L. Vivian
Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing., Stefanie Perrier, Kether Guerrero, Luan T. Tran, Mackenzie A Michell-Robinson, Geneviève Legault, Bernard Brais, Michel Sylvain, James Dorman, Michelle Demos, Wolfgang Köhler, T Pastinen, Isabelle Thiffault, and Geneviève Bernard (Article)
Respiratory Viral Infections in School KIDS, Sydnie Petty, Amanda Hayes, Anjana Sasidharan, Dithi Banerjee, Rangaraj Selvarangan, Jennifer Goldman, and Jennifer E. Schuster
Circulation of Rhinoviruses and/or Enteroviruses in Pediatric Patients With Acute Respiratory Illness Before and During the COVID-19 Pandemic in the US., Danielle A. Rankin, Andrew J. Spieker, Ariana Perez, Anna L. Stahl, Herdi K. Rahman, Laura S. Stewart, Jennifer E. Schuster, Joana Y. Lively, Zaid Haddadin, Varvara Probst, Marian G. Michaels, John V. Williams, Julie A. Boom, Leila C. Sahni, Mary A. Staat, Elizabeth P. Schlaudecker, Monica M. McNeal, Christopher J. Harrison, Geoffrey A. Weinberg, Peter G. Szilagyi, Janet A. Englund, Eileen J. Klein, Susan I. Gerber, Meredith McMorrow, Brian Rha, James D. Chappell, Rangaraj Selvarangan, Claire M. Midgley, Natasha B. Halasa, and NVSN Network Investigators (Article)
Sustained Within-season Vaccine Effectiveness Against Influenza-associated Hospitalization in Children: Evidence From the New Vaccine Surveillance Network, 2015-2016 Through 2019-2020., Leila C. Sahni, Eric A. Naioti, Samantha M. Olson, Angela P. Campbell, Marian C. Michaels, John V. Williams, Mary Allen Staat, Elizabeth P. Schlaudecker, Monica M. McNeal, Natasha B. Halasa, Laura S. Stewart, James D. Chappell, Janet A. Englund, Eileen J. Klein, Peter G. Szilagyi, Geoffrey A. Weinberg, Christopher J. Harrison, Rangaraj Selvarangan, Jennifer E. Schuster, Parvin H. Azimi, Monica N. Singer, Vasanthi Avadhanula, Pedro A. Piedra, Flor M. Munoz, Manish M. Patel, and Julie A. Boom (Article)
LHX2 haploinsufficiency causes a variable neurodevelopmental disorder., Cosima M. Schmid, Anne Gregor, Gregory Costain, Chantal F. Morel, Lauren Massingham, Jennifer Schwab, Chloé Quélin, Marie Faoucher, Julie Kaplan, Rebecca Procopio, Carol J. Saunders, Ana S A Cohen, Gabrielle Lemire, Stephanie Sacharow, Anne O'Donnell-Luria, Ranit Jaron Segal, Jessica Kianmahd Shamshoni, Daniela Schweitzer, Darius Ebrahimi-Fakhari, Kristin Monaghan, Timothy Blake Palculict, Melanie P. Napier, Alice Tao, Bertrand Isidor, Kamran Moradkhani, André Reis, Heinrich Sticht, Care4Rare Canada, Wendy K. Chung, and Christiane Zweier (Article)
Utilization and Impact of Symptomatic and Exposure SARS-CoV-2 Testing in K-12 Schools., Jennifer E. Schuster, Tyler R. Erickson, Jennifer Goldman, Daniel K. Benjamin, M Alan Brookhart, Stephen Dewhurst, Alex Fist, John Foxe, Maya Godambe, Lisa Gwynn, Susan M. Kiene, Dana Keener Mast, Corinne McDaniels-Davidson, Jason G. Newland, Eyal Oren, Rangaraj Selvarangan, Nidhi Shinde, Tyler Walsh, Treymayne Watterson, Martin Zand, Kanecia O. Zimmerman, and Ibukunoluwa C. Kalu (Article)
A COVID-19 Testing Preference Study in Schools., Jennifer E. Schuster, Jessie Potts, Rangaraj Selvarangan, Dana Keener Mast, Jennifer Goldman, and School TLC Study Group (Article)
Hyperinsulinemic Hypoglycemia and Growth Hormone Deficiency Secondary to 20p11 Deletion., Erica Wee, John Herriges, Kavitha Dileepan, Sarah Tsai, Joseph Alaimo, and Emily Paprocki (Article)
Works from 2022
A multi-center study to determine genetic variations in the fusion gene of respiratory syncytial virus (RSV) from children < 2 years of age in the U.S., Bishnu Adhikari, Ferdaus Hassan, Christopher J. Harrison, Jennifer Dien Bard, Jim Dunn, Sue Kehl, and Rangaraj Selvarangan (Article)
NanoString Digital Molecular Profiling of Protein and microRNA in Rhabdomyosarcoma., Atif Ahmed, Midhat S. Farooqi, Sahibu Sultan M Habeebu, Elizabeth Gonzalez, Terrie Flatt, Ashley L. Wilson, and Frederic G. Barr (Article)
EPHB4 Mutation Suppresses PROX1 Expression and Disrupts Lymphatic Development in Neonatal Hydrops., Gangaram Akangire, Heather Menden, Sheng Xia, Isabelle Thiffault, Atif Ahmed, and Venkatesh Sampath (Article)
Understanding Variation in Rotavirus Vaccine Effectiveness Estimates in the United States: The Role of Rotavirus Activity and Diagnostic Misclassification., Avnika B. Amin, Timothy L. Lash, Jacqueline E. Tate, Lance A. Waller, Mary E. Wikswo, Umesh D. Parashar, Laura S. Stewart, James D. Chappell, Natasha B. Halasa, John V. Williams, Marian G. Michaels, Robert W. Hickey, Eileen J. Klein, Janet A. Englund, Geoffrey A. Weinberg, Peter G. Szilagyi, Mary Allen Staat, Monica M. McNeal, Julie A. Boom, Leila C. Sahni, Rangaraj Selvarangan, Christopher J. Harrison, Mary Moffatt, Jennifer E. Schuster, Barbara A. Pahud, Gina Weddle, Parvin H. Azimi, Samantha H. Johnston, Daniel C. Payne, Michael D. Bowen, and Benjamin A. Lopman (Article)
Quantification of Free and Total Carnitine in Serum Using Liquid Chromatography Tandem Mass Spectrometry., Serena Baird, C. Clinton Frazee III, and Uttam Garg (Article)
Quantification of Tryptophan, Indole, and Indoxyl Sulfate in Urine Using Liquid Chromatography-Tandem Mass Spectrometry., Serena Baird, C. Clinton Frazee III, and Uttam Garg (Article)
Quantitation of Phenylalanine in Dried Blood Spot Using Liquid Chromatography Tandem Mass Spectrometry for Monitoring of Patients with Phenylketonuria (PKU)., Serena Baird, C. Clinton Frazee III, and Uttam Garg (Article)
Comparative analysis of three multiplex platforms for the detection of respiratory viral pathogens., Dithi Banerjee, Ferdaus Hassan, Vasanthi Avadhanula, Pedro A. Piedra, Julie Boom, Leila C. Sahni, Geoffrey A. Weinberg, Stephen Lindstrom, Brian Rha, Christopher J. Harrison, and Rangaraj Selvarangan (Article)
22q11.2 duplications: Expanding the clinical presentation., Lauren E. Bartik, Susan Starling Hughes, Meghan Tracy, Matthew M. Feldt, Lei Zhang, Jill M. Arganbright, and Alison Kaye (Article)
Quantitation of Neuroblastoma Markers Homovanillic Acid (HVA) and Vanillylmandelic Acid (VMA) in Urine by Gas Chromatography-Mass Spectrometry (GC/MS)., Melissa Beals, Bheemraj Ramoo, C. Clinton Frazee III, and Uttam Garg (Article)
Triiodothyroacetic Acid Cross-Reacts With Measurement of Triiodothyronine (T3) on Various Immunoassay Platforms., Siaw Li Chan, Samuel Refetoff, Nikolina Babic, Ming Jin, Uttam Garg, and Kiang-Teck J Yeo (Article)
Case Report: Autoimmune anemia and thrombocytopenia following hematopoietic stem cell transplant, Thomas Cochran, Gabor Oroszi, Nancy Terwilliger, Gabe Metzler, and Lejla Music Aplenc (Poster)
Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy., Michelle C. do Rosario, Guillermo Rodriguez Bey, Bruce Nmezi, Fang Liu, Talia Oranburg, Ana S A Cohen, Keith A. Coffman, Maya R. Brown, Kirill Kiselyov, Quinten Waisfisz, Myrthe T. Flohil, Shahyan Siddiqui, Jill A. Rosenfeld, Alejandro Iglesias, Katta Mohan Girisha, Nicole I. Wolf, Quasar Saleem Padiath, and Anju Shukla (Article)
Novel Oncogenic PDGFRB Variant in Severe Infantile Myofibromatosis With Response to Imatinib Using Therapeutic Drug Monitoring, Abbey Elsbernd, Boutaina Boulouadnine, Atif Ahmed, Midhat S. Farooqi, Tracy L. Sandritter, Valentina Shakhnovich, Darius Blanding, Jean-Baptiste Demoulin, and Joel Thompson (Article)
The Impact of Prior Infection and Age on Antibody Persistence After Severe Acute Respiratory Syndrome Coronavirus 2 Messenger RNA Vaccine., Elizabeth Fraley, Cas LeMaster, Santosh Khanal, Dithi Banerjee, T Pastinen, Elin Grundberg, Rangaraj Selvarangan, and Todd Bradley (Article)
Cross-reactive antibodies elicited to conserved epitopes on SARS-CoV-2 spike protein after infection and vaccination., Eric S. Geanes, Cas LeMaster, Elizabeth Fraley, Santosh Khanal, Rebecca McLennan, Elin Grundberg, Rangaraj Selvarangan, and Todd Bradley (Article)
Differences Between Autoantibodies Induced By Sars-Cov-2 Infection And Pfizer-Biontech Sars-Cov-2 Vaccination, Eric S. Geanes, Cas LeMaster, Elizabeth Fraley, Rebecca McLennan, Elin Grundberg, Rangaraj Selvarangan, and Todd Bradley
Influenza clinical testing and oseltamivir treatment in hospitalized children with acute respiratory illness, 2015-2016., Lubna Hamdan, Varvara Probst, Zaid Haddadin, Herdi Rahman, Andrew J. Spieker, Simon Vandekar, Laura S. Stewart, John V. Williams, Julie A. Boom, Flor Munoz, Janet A. Englund, Rangaraj Selvarangan, Mary A. Staat, Geoffrey A. Weinberg, Parvin H. Azimi, Eileen J. Klein, Monica McNeal, Leila C. Sahni, Monica N. Singer, Peter G. Szilagyi, Christopher J. Harrison, Manish Patel, Angela P. Campbell, and Natasha B. Halasa (Article)
TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay., Jennifer Hanson, Daniel Brezavar, Susan Starling Hughes, Shivarajan Manickavasagam Amudhavalli, Emily Fleming, Dihong Zhou, Joseph Alaimo, and Penelope E. Bonnen (Article)
Differences Between Viral Meningitis and Abusive Head Trauma., Danielle Horton, Tanya Burrell, Mary Moffatt, Henry T. Puls, Rangaraj Selvarangan, Lyndsey Hultman, and James Anderst (Article)
Accuracy of Three Commercial Home-Use Hemoglobin A1c Tests., Laura M. Jacobsen, Laura E. Bocchino, John W. Lum, Craig Kollman, Victoria Barnes-Lomen, Mark Sulik, Michael J. Haller, Bruce Bode, Joseph Cernich, Anthony A. Killeen, Uttam Garg, David Liljenquist, Janey G. Adams, Margaret Clements, Deanna Gabrielson, Terri Johnson, Mark A. Clements, and Roy W. Beck (Article)
Vaccine Effectiveness Against Influenza Hospitalization and Emergency Department Visits in 2 A(H3N2) Dominant Influenza Seasons Among Children <18 Years Old-New Vaccine Surveillance Network 2016-2017 and>2017-2018., Sara S. Kim, Eric A. Naioti, Natasha B. Halasa, Laura S. Stewart, John V. Williams, Marian G. Michaels, Rangaraj Selvarangan, Christopher J. Harrison, Mary A. Staat, Elizabeth P. Schlaudecker, Geoffrey A. Weinberg, Peter G. Szilagyi, Julie A. Boom, Leila C. Sahni, Janet A. Englund, Eileen J. Klein, Constance E. Ogokeh, Angela P. Campbell, Manish M. Patel, and New Vaccine Surveillance Network (Article)
Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies., Lisa A. Lansdon, Maxime Cadieux-Dion, John Herriges, Jeffrey J. Johnston, Byunggil Yoo, Joseph Alaimo, Isabelle Thiffault, Neil Miller, Ana S A Cohen, Elena Repnikova, Lei Zhang, Midhat S. Farooqi, Emily G. Farrow, and Carol J. Saunders (Article)
Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype., Simon Lebaron, Marie-Françoise O'Donohue, Scott C. Smith, Kendra Engleman, Jane Juusola, Nicole P. Safina, Isabelle Thiffault, Carol J. Saunders, and Pierre-Emmanuel Gleizes (Article)
Differences in pediatric SARS-CoV-2 symptomology and Co-infection rates among COVID-19 Pandemic waves., Brian R. Lee, Christopher J. Harrison, Angela Myers, Mary Anne Jackson, and Rangaraj Selvarangan (Article)
Neutralizing Enterovirus D68 Antibodies in Children after 2014 Outbreak, Kansas City, Missouri, USA., Robyn A. Livingston, Christopher J. Harrison, and Rangaraj Selvarangan (Article)
EWSR1-BEND2 fusion defines an epigenetically distinct subtype of astroblastoma., Calixto-Hope G Lucas, Rohit Gupta, Jasper Wu, Kathan Shah, Ajay Ravindranathan, Jairo Barreto, Melissa Gener, Kevin F. Ginn, Owen W J Prall, Huiling Xu, Damien Kee, Hyun S. Ko, Nausheen Yaqoob, Nida Zia, Adriana Florez, Soonmee Cha, Arie Perry, Jennifer L. Clarke, Susan M. Chang, Mitchel S. Berger, and David A. Solomon (Letter to the Editor)
Repeat Tracheal Aspirates in Pediatric Intensive Care Patients: Frequency, Resistance and Antimicrobial Use, Edward Lyon, Jennifer Goldman, Brian Lee, Margaret Campbell, Rangaraj Selvarangan, and Elizabeth Monsees (Poster)
Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration., Julia Macintosh, Alexa Derksen, Chantal Poulin, Nancy Braverman, Adeline Vanderver, Isabelle Thiffault, Steffen Albrecht, and Geneviève Bernard (Article)
Therapeutic plasma exchange for multiorgan dysfunction among critically ill pediatric patients with leukemia: A single-institutional experience., Sarah E. Mc Dermott, Chandni Dargan, Elizabeth Gonzalez, Lejla Music Aplenc, Terrie Flatt, and Nazia Iqbal (Article)
Rotavirus Strain Trends in United States, 2009-2016: Results from the National Rotavirus Strain Surveillance System (NRSSS)., Slavica Mijatovic-Rustempasic, Jose Jaimes, Charity Perkins, M Leanne Ward, Mathew D. Esona, Rashi Gautam, Jamie Lewis, Michele Sturgeon, Junaid Panjwani, Gail A. Bloom, Steve Miller, Erik Reisdorf, Ann Marie Riley, Morgan A. Pence, James Dunn, Rangaraj Selvarangan, Robert C. Jerris, Dona DeGroat, Umesh D. Parashar, Margaret M. Cortese, and Michael D. Bowen (Article)
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS) Method for the Quantification of Steroids Androstenedione, Dehydroepiandrosterone, 11-Deoxycortisol, 17-Hydroxyprogesterone, and Testosterone., Ada Munar, C. Clinton Frazee III, and Uttam Garg (Article)
Quantification of 25-Hydroxyvitamin D2 and D3 Using Liquid Chromatography-Tandem Mass Spectrometry., Ada Munar, C. Clinton Frazee III, and Uttam Garg (Article)
Respiratory Virus Surveillance Among Children with Acute Respiratory Illnesses - New Vaccine Surveillance Network, United States, 2016-2021., Ariana Perez, Joana Y. Lively, Aaron Curns, Geoffrey A. Weinberg, Natasha B. Halasa, Mary Allen Staat, Peter G. Szilagyi, Laura S. Stewart, Monica M. McNeal, Benjamin Clopper, Yingtao Zhou, Brett L. Whitaker, Elizabeth LeMasters, Elizabeth Harker, Janet A. Englund, Eileen J. Klein, Rangaraj Selvarangan, Christopher J. Harrison, Julie A. Boom, Leila C. Sahni, Marian G. Michaels, John V. Williams, Gayle E. Langley, Susan I. Gerber, Angela Campbell, Aron J. Hall, Brian Rha, Meredith McMorrow, and New Vaccine Surveillance Network Collaborators (Article)
Clinical Presentation and Severity of Adenovirus Detection Alone vs Adenovirus Co-detection With Other Respiratory Viruses in US Children With Acute Respiratory Illness from 2016 to 2018., Varvara Probst, Andrew J. Spieker, Tess Stopczynski, Laura S. Stewart, Zaid Haddadin, Rangaraj Selvarangan, Christopher J. Harrison, Jennifer E. Schuster, Mary A. Staat, Monica McNeal, Geoffrey A. Weinberg, Peter G. Szilagyi, Julie A. Boom, Leila C. Sahni, Pedro A. Piedra, Janet A. Englund, Eileen J. Klein, Marian G. Michaels, John V. Williams, Angela P. Campbell, Manish Patel, Susan I. Gerber, and Natasha B. Halasa (Article)
T Cell Transcriptome in Chromosome 22q11.2 Deletion Syndrome., Nikita Raje, Janelle R. Noel-Macdonnell PhD, Katherine A. Shortt, Nicole Gigliotti, Marcia A. Chan, and Daniel P. Heruth (Article)
Screening of Organic Acidurias by Gas Chromatography-Mass Spectrometry (GC-MS)., David Scott, C. Clinton Frazee III, and Uttam Garg (Article)
Tandem Mass Spectrometry for the Analysis of Plasma/Serum Acylcarnitines for the Diagnosis of Certain Organic Acidurias and Fatty Acid Oxidation Disorders., David Scott, C. Clinton Frazee III, Bryce Heese, and Uttam Garg (Article)
Chromosomal Microarray Reinterpretation: Applications to Pediatric Practice., Guanglu Shi, Jing Xu, Shirelle F Barnes, Midhat S. Farooqi, Hung S. Luu, Garrett Gotway, and Jason Y. Park (Article)
Cepheid Xpert Xpress Flu/RSV evaluation performed by minimally trained non-laboratory operators in a CLIA-waived environment., Bashar S. Shihabuddin, Matthew L. Faron, Ryan F. Relich, Paul Van Heukelom, Donna Mayne, Mary Allen Staat, Rangaraj Selvarangan, Leslie Hueschen, Donna M. Wolk, Stacey House, Glenn Harnett, Kevin McGann, Mark T. Steele, Jose R. Romero, Joe Arms, Owen Lander, Michael Loeffelholz, Fiona Strouts, and Daniel Cohen (Article)
Randomised trial: Peppermint oil (menthol) pharmacokinetics in children and effects on gut motility in children with functional abdominal pain., Robert J. Shulman, Bruno P. Chumpitazi, Susan M. Abdel-Rahman, Uttam Garg, Salma Musaad, and Gregory L. Kearns (Article)
Ehrlichia-induced hemophagocytic lymphohistiocytosis in a pediatric kidney transplant recipient., Nisha S. Singh, Alexa L. Pagano, J Allyson Hays, Alexander Kats, Steven M. Dahl, Bradley A. Warady, Nathan T. Beins, and Dwight E. Yin (Article)
Clinical Influenza Testing Practices in Hospitalized Children at United States Medical Centers, 2015-2018., Mark W. Tenforde, Angela P. Campbell, Marian G. Michaels, Christopher J. Harrison, Eileen J. Klein, Janet A. Englund, Rangaraj Selvarangan, Natasha B. Halasa, Laura S. Stewart, Geoffrey A. Weinberg, John V. Williams, Peter G. Szilagyi, Mary A. Staat, Julie A. Boom, Leila C. Sahni, Monica N. Singer, Parvin H. Azimi, Richard K. Zimmerman, Monica M. McNeal, H Keipp Talbot, Arnold S. Monto, Emily T. Martin, Manjusha Gaglani, Fernanda P. Silveira, Donald B. Middleton, Jill M. Ferdinands, and Melissa A. Rolfes (Article)
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome., Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, Deciphering Developmental Disorders Study, Sarah Smithson, Ana Beleza Meireles, Mariet W. Elting, Quinten Waisfisz, Anne O'Donnell-Luria, Catherine Nowak, Jessica Douglas, Anne Ronan, Theresa Brunet, Urania Kotzaeridou, Shayna Svihovec, Margarita S. Saenz, Isabelle Thiffault, Florencia Del Viso, Patrick Devine, Shannon Rego, Jessica Tenney, Arie van Haeringen, Claudia A L Ruivenkamp, Saskia Koene, Stephen P. Robertson, Charulata Deshpande, Rolph Pfundt, Nienke Verbeek, Jiddeke M. van de Kamp, Janneke M M Weiss, Anna Ruiz, Elisabeth Gabau, Ehud Banne, Alexander Pepler, Armand Bottani, Sacha Laurent, Michel Guipponi, Emilia Bijlsma, Ange-Line Bruel, Arthur Sorlin, Mary Willis, Zoe Powis, Thomas Smol, Catherine Vincent-Delorme, Diana Baralle, Estelle Colin, Nicole Revencu, Eduardo Calpena, Andrew O M Wilkie, Maya Chopra, Valerie Cormier-Daire, Boris Keren, Alexandra Afenjar, Marcello Niceta, Alessandra Terracciano, Nicola Specchio, Marco Tartaglia, Marlene Rio, Giulia Barcia, Sophie Rondeau, Cindy Colson, Jeroen Bakkers, Peter D. Mace, Louise S. Bicknell, and Gijs van Haaften (Article)
Peppermint oil effects on the gut microbiome in children with functional abdominal pain., Santosh Thapa, Ruth Ann Luna, Bruno P. Chumpitazi, Numan Oezguen, Susan M. Abdel-Rahman, Uttam Garg, Salma Musaad, James Versalovic, Gregory L. Kearns, and Robert J. Shulman (Article)
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin., Charlotte von der Lippe, Kristian Tveten, Trine E. Prescott, Øystein L. Holla, Øyvind L. Busk, Katherine B. Burke, Francis H. Sansbury, Júlia Baptista, Andrew E. Fry, Derek Lim, Stephen Jolles, Jennifer Evans, Deborah Osio, Carol Macmillan, Irene Bruno, Flavio Faletra, Salvador Climent, Roser Urreitzi, Janet Hoenicka, Francesc Palau, Ana S A Cohen, Kendra Engleman, Dihong Zhou, Shivarajan Manickavasagam Amudhavalli, Médéric Jeanne, Frédérique Bonnet-Brilhault, Jonathan Lévy, Séverine Drunat, Nicolas Derive, Marte G. Haug, and Wenche M. Thorstensen (Article)
Introduction to Mass Spectrometry for Bimolecular Analysis in a Clinical Laboratory., Y Victoria Zhang and Uttam Garg (Article)
Works from 2021
An Infant Presenting with Seizures and Renal Failure., Atif Ahmed, Joy Edegbe, Jay Rilinger, and Uttam Garg (Article)
MYOD1 as a prognostic indicator in rhabdomyosarcoma., Atif Ahmed, Sahibu Sultan M Habeebu, Midhat S. Farooqi, A S. Gamis, Elizabeth Gonzalez, Terrie Flatt, Ashley K. Sherman, Lea Surrey, Michael A. Arnold, Miriam Conces, Selene Koo, Nikolina Dioufa, Frederic G. Barr, and Maria G. Tsokos (Article)
Towards better understanding of giant cell granulomas of the oral cavity., Atif Ahmed and Aparna Naidu (Article)
A Deleterious EPHB4 Mutation Suppresses PROX1 Expression and Disrupts Lymphatic Development in Neonatal Non-immune Hydrops, Gangaram Akangire, Heather Menden, Sheng Xia, Atif Ahmed, and Venkatesh Sampath (Poster)
Big Data Strikes Again: Future Utilization of the UK Biobank as a Resource for Clinical Laboratories., Joseph Alaimo and Carol J. Saunders (Article)
Diagnostic Yield of Saliva for SARS-CoV-2 Molecular Testing in Children., Dithi Banerjee, Anjana Sasidharan, Ayah Abdulhamid, Esmeralda M. Orosco, Jennifer Watts, Jennifer E. Schuster, Angela Myers, Gina Weddle, and Rangaraj Selvarangan (Article)
Prevalence of Mycoplasma genitalium and Macrolide Resistance in Adolescent Females Receiving Care at a Pediatric Hospital, Kayla Barnes, Bishnu Adhikari, Rangaraj Selvarangan, Christopher J. Harrison, and Melissa K. Miller (Poster)
An Evaluation of Two Capillary Sample Collection Kits for Laboratory Measurement of HbA1c., Roy W Beck, Laura E Bocchino, John W Lum, Craig Kollman, Victoria Barnes-Lomen, Mark Sulik, Michael J Haller, Bruce Bode, Joseph Cernich, Anthony A Killeen, Uttam Garg, David Liljenquist, Janey G Adams, Margaret Clements, Deanna Gabrielson, Terri Johnson, and Mark A. Clements (Article)
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23., William Burns, Lynne M. Bird, Delphine Heron, Boris Keren, Divya Ramachandra, Isabelle Thiffault, Florencia Del Viso, Shivarajan Amudhavalli, Kendra Engleman, Ilaria Parenti, Frank J. Kaiser, Jolanta Wierzba, Korbinian M. Riedhammer, Susanne Liptay, Neda Zadeh, Joseph Porrmann, Andrea Fischer, Sophie Gößwein, Heather M. McLaughlin, Aida Telegrafi, Katherine G. Langley, Richard Steet, Raymond J. Louie, and Michael J. Lyons (Article)
Effect of Vaccination on Preventing Influenza-Associated Hospitalizations Among Children During a Severe Season Associated with B/Victoria Viruses, 2019-2020., Angela P. Campbell, Constance Ogokeh, Geoffrey A. Weinberg, Julie A. Boom, Janet A. Englund, John V. Williams, Natasha B. Halasa, Rangaraj Selvarangan, Mary A. Staat, Eileen J. Klein, Monica McNeal, Marian G. Michaels, Leila C. Sahni, Laura S. Stewart, Peter G. Szilagyi, Christopher J. Harrison, Joana Y. Lively, Brian Rha, and Manish Patel (Article)
Global Trends in Norovirus Genotype Distribution among Children with Acute Gastroenteritis., Jennifer L. Cannon, Joseph Bonifacio, Filemon Bucardo, Javier Buesa, Leesa Bruggink, Martin Chi-Wai Chan, Tulio M. Fumian, Sidhartha Giri, Mark D. Gonzalez, Joanne Hewitt, Jih-Hui Lin, Janet Mans, Christian Muñoz, Chao-Yang Pan, Xiao-Li Pang, Corinna Pietsch, Mustafiz Rahman, Naomi Sakon, Rangaraj Selvarangan, Hannah Browne, Leslie Barclay, and Jan Vinjé (Article)
Frequent internuclear bridging in a Fanconi anemia patient with FANCG mutation., Thomas Cochran and Weijie Li (Article)
Experience Using A Combination Of Variant Prioritization Tools In A Large Rare Disease Cohort, Ana S A Cohen, Isabelle Thiffault, Emily Farrow, Warren A. Cheung, Jeffrey J. Johnston, Tricia N. Zion, Lauren E. Bartik, Margaret Gibson, Adam Walter, Laura M B Puckett, Nyshele L. Posey, Brittany D. McDonald, Mary M. Elfrink, Suzanne Herd, Neil Miller, and Tomi Pastinen
Management of a hemispherotomy for Rasmussen encephalitis in a patient with mild factor 10 deficiency and low von Willebrand factor levels., Chandni Dargan, Christian Kaufman, Gabor Oroszi, Christopher P K Miller, Lucy Carter-Reardon, Eric Blue, and Brian M. Wicklund (Letter to the Editor)
Variability in Culture-Negative Peritonitis Rates in Pediatric Peritoneal Dialysis Programs in the United States., T Keefe Davis, Kristina A. Bryant, Jonathan Rodean, Troy Richardson, Rangaraj Selvarangan, Xuan Qin, Alicia Neu, and Bradley A. Warady (Article)
Impact of Rapid Influenza Molecular Testing on Management in Pediatric Acute Care Settings., Rana El Feghaly, John David Nolen, Brian R. Lee, George Abraham, Amanda Nedved, Ferdaus Hassan, and Rangaraj Selvarangan (Article)
Comparative genomic analysis of genogroup 1 and genogroup 2 rotaviruses circulating in seven US cities, 2014-2016., Mathew D. Esona, Rashi Gautam, Eric Katz, Jose Jaime, M Leanne Ward, Mary E. Wikswo, Naga S. Betrapally, Slavica M. Rustempasic, Rangaraj Selvarangan, Christopher J. Harrison, Julie A. Boom, Jan Englund, Eileen J. Klein, Mary Allen Staat, Monica M. McNeal, Natasha Halasa, James Chappell, Geoffrey A. Weinberg, Daniel C. Payne, Umesh D. Parashar, and Michael D. Bowen (Article)
Rotavirus Genotype Trends and Gastrointestinal Pathogen Detection in the United States, 2014-2016: Results From the New Vaccine Surveillance Network., Mathew D. Esona, M Leanne Ward, Mary E. Wikswo, Slavica M. Rustempasic, Rashi Gautam, Charity Perkins, Rangaraj Selvarangan, Christopher J. Harrison, Julie A. Boom, Janet A. Englund, Eileen J. Klein, Mary Allen Staat, Monica M. McNeal, Natasha Halasa, James Chappell, Geoffrey A. Weinberg, Daniel C. Payne, Umesh D. Parashar, and Michael D. Bowen (Article)
Vaccine Effectiveness Against Influenza Hospitalization Among Children in the United States, 2015-2016., Leora R. Feldstein, Constance Ogokeh, Brian Rha, Geoffrey A. Weinberg, Mary A. Staat, Rangaraj Selvarangan, Natasha B. Halasa, Janet A. Englund, Julie A. Boom, Parvin H. Azimi, Peter G. Szilagyi, Monica McNeal, Christopher J. Harrison, John V. Williams, Eileen J. Klein, Leila C. Sahni, Monica N. Singer, Joana Y. Lively, Daniel C. Payne, Alicia M. Fry, Manish Patel, and Angela P. Campbell (Article)
Characterizing Differential Antibody Responses To Covid-19 Vaccine And Pre-Existing Immunity To Covid-19, Elizabeth Fraley, Eric S. Geanes, Dithi Banerjee, Santosh Khanal, Daniel A. Louiselle, Nick Nolte, Rebecca L. Biswell, Bradley Belden, Angela Myers, Jennifer Schuster, Tomi Pastinen, Elin Grundberg, Rangaraj Selvarangan, and Todd Bradley
