Works from 2024
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation., Shreyas Bhat, Justine Rousseau, Coralie Michaud, Charles Marques Lourenço, Joan M. Stoler, Raymond J. Louie, Lola K. Clarkson, Angie Lichty, Daniel C. Koboldt, Shalini C. Reshmi, Sanjay M. Sisodiya, Eva M M Hoytema van Konijnenburg, Klaas Koop, Peter M. van Hasselt, Florence Démurger, Christèle Dubourg, Bonnie Sullivan, Susan S. Hughes, Isabelle Thiffault, Elisabeth Simard Tremblay, Andrea Accogli, Myriam Srour, Rikard Blunck, and Philippe M. Campeau (Article)
Respiratory Syncytial Virus-Associated Hospitalizations Among Children <5 Years Old: 2016 to>2020., Aaron T. Curns, Brian Rha, Joana Y. Lively, Leila C. Sahni, Janet A. Englund, Geoffrey A. Weinberg, Natasha B. Halasa, Mary A. Staat, Rangaraj Selvarangan, Marian Michaels, Heidi Moline, Yingtao Zhou, Ariana Perez, Chelsea Rohlfs, Robert Hickey, Kirsten Lacombe, Rendie McHenry, Brett Whitaker, Jennifer E. Schuster, Claudia Guevara Pulido, Bonnie Strelitz, Christina Quigley, Gina Weddle Dnp, Vasanthi Avadhanula, Christopher J. Harrison, Laura S. Stewart, Elizabeth Schlaudecker, Peter G. Szilagyi, Eileen J. Klein, Julie Boom, John V. Williams, Gayle Langley, Susan I. Gerber, Aron J. Hall, and Meredith L. McMorrow (Article)
Notes from the Field: Reemergence of Mycoplasma pneumoniae Infections in Children and Adolescents After the COVID-19 Pandemic, United States, 2018-2024., Chris Edens, Benjamin R. Clopper, Jourdan DeVies, Alvaro Benitez, Erin R. McKeever, Dylan Johns, Bernard Wolff, Rangaraj Selvarangan, Jennifer E. Schuster, Geoffrey A. Weinberg, Peter G. Szilagyi, Fatimah S. Dawood, Lakshmi Radhakrishnan, Christina Quigley, Leila C. Sahni, Natasha Halasa, Laura S. Stewart, Meredith L. McMorrow, Brett Whitaker, Danielle M. Zerr, Vasanthi Avadhanula, John V. Williams, Marian G. Michaels, Aaron Kite-Powell, Janet A. Englund, Mary Allen Staat, Kathleen Hartnett, Heidi L. Moline, Adam L. Cohen, and Maureen Diaz (Article)
Interim Estimates of 2023-24 Seasonal Influenza Vaccine Effectiveness - United States., Aaron M. Frutos, Ashley M. Price, Elizabeth Harker, Emily L. Reeves, Haris M. Ahmad, Vel Murugan, Emily T. Martin, Stacey House, Elie A. Saade, Richard K. Zimmerman, Manjusha Gaglani, Karen J. Wernli, Emmanuel B. Walter, Marian G. Michaels, Mary A. Staat, Geoffrey A. Weinberg, Rangaraj Selvarangan, Julie A. Boom, Eileen J. Klein, Natasha B. Halasa, Adit A. Ginde, Kevin W. Gibbs, Yuwei Zhu, Wesley H. Self, Sara Y. Tartof, Nicola P. Klein, Kristin Dascomb, Malini B. DeSilva, Zachary A. Weber, Duck-Hye Yang, Sarah W. Ball, Diya Surie, Jennifer DeCuir, Fatimah S. Dawood, Heidi L. Moline, Ariana P. Toepfer, Benjamin R. Clopper, Ruth Link-Gelles, Amanda B. Payne, Jessie R. Chung, Brendan Flannery, Nathaniel M. Lewis, Samantha M. Olson, Katherine Adams, Mark W. Tenforde, Shikha Garg, Lisa A. Grohskopf, Carrie Reed, Sascha Ellington, and CDC Influenza Vaccine Effectiveness Collaborators (Article)
Liquid Chromatography-Tandem Mass Spectrometry Method for the Quantification of Plasma Busulfan., Uttam Garg, Ada Munar, and C. Clinton Frazee III (Article)
Early Estimate of Nirsevimab Effectiveness for Prevention of Respiratory Syncytial Virus-Associated Hospitalization Among Infants Entering Their First Respiratory Syncytial Virus Season - New Vaccine Surveillance Network, October 2023-February 2024., Heidi L. Moline, Ayzsa Tannis, Ariana P. Toepfer, John V. Williams, Julie A. Boom, Janet A. Englund, Natasha B. Halasa, Mary Allen Staat, Geoffrey A. Weinberg, Rangaraj Selvarangan, Marian G. Michaels, Leila C. Sahni, Eileen J. Klein, Laura S. Stewart, Elizabeth P. Schlaudecker, Peter G. Szilagyi, Jennifer E. Schuster, Leah Goldstein, Samar Musa, Pedro A. Piedra, Danielle M. Zerr, Kristina A. Betters, Chelsea Rohlfs, Christina Albertin, Dithi Banerjee, Erin R. McKeever, Casey Kalman, Benjamin R. Clopper, New Vaccine Surveillance Network Product Effectiveness Collaborators, Meredith L. McMorrow, and Fatimah S. Dawood (Article)
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features., Sureni V. Mullegama, Kaitlyn A. Kiernan, Erin Torti, Ethan Pavlovsky, Nicholas Tilton, Austin Sekula, Hua Gao, Joseph Alaimo, Kendra Engleman, Eric T. Rush, Karli Blocker, Katrina M. Dipple, Veronica M. Fettig, Heather Hare, Ian Glass, Dorothy K. Grange, Michael Griffin, Chanika Phornphutkul, Lauren Massingham, Lakshmi Mehta, Danny E. Miller, Jenny Thies, J Lawrence Merritt, Eric Muller, Matthew Osmond, Sarah L. Sawyer, Rachel Slaugh, Rachel E. Hickey, Barry Wolf, Care4Rare Canada Consortium, Undiagnosed Diseases Network, Sanjeev Choudhary, Miljan Simonović, Yueqing Zhang, Timothy Blake Palculict, Aida Telegrafi, Deanna Alexis Carere, Ingrid M Wentzensen, Michelle M. Morrow, Kristin G. Monaghan, Jun Yang, and Jane Juusola (Article)
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3., Maimuna S. Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M. Pfliger, Jill A. Rosenfeld, Vanesa C. Lerma, Alyssa Tran, Megan A. Longley, Richard A. Lewis, Monika Weisz-Hubshman, Mir Reza Bekheirnia, Nasim Bekheirnia, Lauren Massingham, Michael Zech, Matias Wagner, Hartmut Engels, Kirsten Cremer, Elisabeth Mangold, Sophia Peters, Jessica Trautmann, Jessica L. Mester, Maria J. Guillen Sacoto, Richard Person, Pamela P. McDonnell, Stacey R. Cohen, Laina Lusk, Ana S A Cohen, Jean-Baptist LePichon, T Pastinen, Dihong Zhou, Kendra Engleman, Caroline Racine, Laurence Faivre, Sébastien Moutton, Anne-Sophie Denommé-Pichon, Hyun Yong Koh, Annapurna Poduri, Jeffrey Bolton, Cordula Knopp, Dong Sun Julia Suh, Andrea Maier, Mehran Beiraghi Toosi, Ehsan Ghayoor Karimiani, Reza Maroofian, Gerald Bradley Schaefer, Vijayalakshmi Ramakumaran, Pradeep Vasudevan, Chitra Prasad, Matthew Osmond, Sarah Schuhmann, Georgia Vasileiou, Sophie Russ-Hall, Ingrid E. Scheffer, Gemma L. Carvill, Heather Mefford, Undiagnosed Diseases Network, Carlos A. Bacino, Brendan H. Lee, and Hsiao-Tuan Chao (Article)
Clinical Impact of Multiplex Molecular Diagnostic Testing in Children With Acute Gastroenteritis Presenting to an Emergency Department: A Multicenter Prospective Study., Andrew T. Pavia, Daniel M. Cohen, Amy L. Leber, Judy A. Daly, Jami T. Jackson, Rangaraj Selvarangan, Neena Kanwar, Jeffrey M. Bender, Jennifer Dien Bard, Ara Festekjian, Susan Duffy, Chari Larsen, Kristen M. Holmberg, Tyler Bardsley, Benjamin Haaland, Kevin M. Bourzac, Christopher Stockmann, Kimberle C. Chapin, and Daniel T. Leung (Article)
Comprehensive Urine Drug Screen by Gas Chromatography-Mass Spectrometry (GC-MS)., Bheemraj Ramoo, C. Clinton Frazee III, and Uttam Garg (Article)
Maternal Vaccine Effectiveness Against Influenza-Associated Hospitalizations and Emergency Department Visits in Infants., Leila C. Sahni, Samantha M. Olson, Natasha B. Halasa, Laura S. Stewart, Marian G. Michaels, John V. Williams, Janet A. Englund, Eileen J. Klein, Mary A. Staat, Elizabeth P. Schlaudecker, Rangaraj Selvarangan, Jennifer E. Schuster, Geoffrey A. Weinberg, Peter G. Szilagyi, Julie A. Boom, Manish M. Patel, Flor M. Muñoz, and New Vaccine Surveillance Network Collaborators (Response or Comment)
More Than a Decade of Rapid Genomic Sequencing: Where Are We Now?, Carol J. Saunders, Luca Brunelli, Michael J. Deem, Emily G. Farrow, Madhuri Hegde, and Zornitza Stark (Article)
Quantification of Phencyclidine (PCP) in Urine, Serum, or Plasma by Gas Chromatography-Mass Spectrometry (GC-MS)., David Scott, C. Clinton Frazee III, and Uttam Garg (Article)
Pediatric spinal ependymoma with chromothripsis of chromosome 6: a case report and review of the literature., Keela R. Scott, Melissa Gener, and Elena Repnikova (Article)
Quantification of Fentanyl and Norfentanyl in Whole Blood Using Liquid Chromatography-Tandem Mass Spectrometry., Serena Shell, C. Clinton Frazee III, and Uttam Garg (Article)
Serum and Urine Quantification of Delta-8 and Delta-9 Tetrahydrocannabinol Carboxylic Acid Using Gas Chromatography-Mass Spectrometry., Serena Shell, C. Clinton Frazee III, and Uttam Garg (Article)
Diagnosis of Mosaic RASopathy in a Child with Rhabdomyosarcoma, Meagan Vacek, Paige Johnson, Midhat S. Farooqi, Kristi M. Canty, Dihong Zhou, Brendan Lanpher, Wendy Allen-Rhoades, and Erin M. Guest (Poster)
Mass Spectrometry in Clinical Laboratory: Applications in Therapeutic Drug Monitoring and Toxicology., Y Victoria Zhang and Uttam Garg (Article)
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
Paroxysmal cold hemoglobinuria: A diagnostic dilemma in a paediatric patient., Keenan O. Hogan and Gabor Oroszi (Article)
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)
Evidence that donors with variant RH genotypes are associated with unexpected Rh antibodies., Julie Kirkegaard, Lynsi Rahorst, Anna Burgos, Lejla Music Aplenc, Nazia Tabassum Iqbal, Sunitha Vege, Christine Lomas Francis, and Connie M. Westhoff (Article)
Macrocephaly and developmental delay caused by missense variants in RAB5C., Klaas Koop, Weimin Yuan, Federico Tessadori, Wilmer R. Rodriguez-Polanco, Jeremy Grubbs, Bo Zhang, Matt Osmond, Gail Graham, Sarah Sawyer, Erin Conboy, Francesco Vetrini, Kayla Treat, Rafal Płoski, Victor Murcia Pienkowski, Anna Kłosowska, Elizabeth Fieg, Joel Krier, Coralie Mallebranche, Ziegler Alban, Kimberly A. Aldinger, Deborah Ritter, Ellen Macnamara, Bonnie Sullivan, John Herriges, Joseph Alaimo, Catherine Helbig, Colin A. Ellis, Clare van Eyk, Jozef Gecz, Daniel Farrugia, Ikeoluwa Osei-Owusu, Lesley Adès, Marie-Jose van den Boogaard, Sabine Fuchs, Jeroen Bakker, Karen Duran, Zachary D. Dawson, Anika Lindsey, Huiyan Huang, Dustin Baldridge, Gary A. Silverman, Barth D. Grant, David Raizen, Undiagnosed Diseases Network;, Gijs van Haaften, Stephen C. Pak, Holger Rehmann, Tim Schedl, and Peter van Hasselt (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)
A Comparison of Pathogen Detection and Risk Factors among Symptomatic Children with Gastroenteritis Compared with Asymptomatic Children in the Post-rotavirus Vaccine Era., Brian R. Lee, Christopher J. Harrison, Ferdaus Hassan, Anjana Sasidharan, Mary Moffatt, Kirsten Weltmer, Daniel C. Payne, Mary E. Wikswo, Umesh Parashar, and Rangaraj Selvarangan (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)
Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features., Zhigang Liu, Baozhong Xin, Iris N. Smith, Valerie Sency, Julia Szekely, Anna Alkelai, Alan Shuldiner, Stephanie Efthymiou, Farrah Rajabi, Stephanie Coury, Catherine A. Brownstein, Sabine Rudnik-Schöneborn, Ange-Line Bruel, Julien Thevenon, Shimriet Zeidler, Parul Jayakar, Axel Schmidt, Kirsten Cremer, Hartmut Engels, Sophia O. Peters, Maha S Zaki, Ruizhi Duan, Changlian Zhu, Yiran Xu, Chao Gao, Tania Sepulveda-Morales, Reza Maroofian, Issam A. Alkhawaja, Mariam Khawaja, Hunaida Alhalasah, Henry Houlden, Jill A. Madden, Valentina Turchetti, Dana Marafi, Pankaj B. Agrawal, Ulrich Schatz, Ari Rotenberg, Joshua Rotenberg, Grazia M S Mancini, Somayeh Bakhtiari, Michael Kruer, Isabelle Thiffault, Steffen Hirsch, Maja Hempel, Lara G. Stühn, Tobias B. Haack, Jennifer E. Posey, James R. Lupski, Hyunpil Lee, Nicholas B. Sarn, Charis Eng, Claudia Gonzaga-Jauregui, Bin Zhang, and Heng Wang (Article)
Intrathymic AAV gene delivery, Weijie Li (Editorial)
CD19-negative B-cell precursors in bone marrow: A potential mimicker for CD19-negative B-lymphoblastic leukemia by flow cytometry in patients with anti-CD19 treatment., Weijie Li, Ruth Morgan, Roxanne Nieder, Sahibu Sultan M Habeebu, and Douglas Myers (Article)
Factors associated with respiratory pathogen panel utilization in children hospitalized with acute respiratory illness — New Vaccine Surveillance Network, Kansas City, 2017–2021, Edward Lyon, Brian R. Lee, Benjamin Clopper, Heidi L. Moline, Rangaraj Selvarangan, and Jennifer Schuster (Poster)
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
ROS1 Alterations as a Potential Driver of Gliomas in Infant, Pediatric, and Adult Patients., David M. Meredith, Linda D. Cooley, Adrian Dubuc, Jennifer Morrissette, Robyn T. Sussman, MacLean P. Nasrallah, Pamela Rathbun, Kai Lee Yap, Nitin Wadhwani, Liming Bao, Daynna J. Wolff, Cristiane Ida, Madina Sukhanova, Craig Horbinski, Lawrence J. Jennings, Midhat S. Farooqi, Melissa Gener, Kevin Ginn, Kwok Ling Kam, Koji Sasaki, Rashmi Kanagal-Shamanna, Sanda Alexandrescu, Daniel Brat, and Xinyan Lu (Article)
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)
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change., Heidi L. Rehm, Joseph Alaimo, Swaroop Aradhya, Pinar Bayrak-Toydemir, Hunter Best, Rhonda Brandon, Jillian G. Buchan, Elizabeth C. Chao, Elaine Chen, Jacob Clifford, Ana S A Cohen, Laura K. Conlin, Soma Das, Kyle W. Davis, Daniela Del Gaudio, Florencia Del Viso, Christina DiVincenzo, Marcia Eisenberg, Lucia Guidugli, Monia B. Hammer, Steven M. Harrison, Kathryn E. Hatchell, Lindsay Havens Dyer, Lily U. Hoang, James M. Holt, Vaidehi Jobanputra, Izabela D. Karbassi, Hutton M. Kearney, Melissa A. Kelly, Jacob M. Kelly, Michelle L. Kluge, Timothy Komala, Paul Kruszka, Lynette Lau, Matthew S. Lebo, Christian R. Marshall, Dianalee McKnight, Kirsty McWalter, Yan Meng, Narasimhan Nagan, Christian S. Neckelmann, Nir Neerman, Zhiyv Niu, Vitoria K. Paolillo, Sarah A. Paolucci, Denise Perry, Tina Pesaran, Kelly Radtke, Kristen J. Rasmussen, Kyle Retterer, Carol J. Saunders, Elizabeth Spiteri, Christine Stanley, Anna Szuto, Ryan J. Taft, Isabelle Thiffault, Brittany C. Thomas, Amanda Thomas-Wilson, Erin Thorpe, Timothy J. Tidwell, Meghan C. Towne, Hana Zouk, and Medical Genome Initiative Steering Committee (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)
Multi-center clinical evaluation of the Panther Fusion SARS-CoV-2/Flu A/B/RSV assay in nasopharyngeal swab specimens from symptomatic individuals., Anjana Sasidharan, Rangaraj Selvarangan, Kennah Konrad, Matthew L. Faron, Salika M. Shakir, David Hillyard, Robert K. McCall, Ian H. McHardy, David C. Goldberg, James J. Dunn, Alexander L. Greninger, Christine Lansang, Rachel Bogh, and Carmelle V. Remillard (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)
SARS-CoV-2 Epidemiology and COVID-19 mRNA Vaccine Effectiveness Among Infants and Children Aged 6 Months-4 Years - New Vaccine Surveillance Network, United States, July 2022-September 2023., Ayzsa Tannis, Janet A. Englund, Ariana Perez, Elizabeth J. Harker, Mary Allen Staat, Elizabeth P. Schlaudecker, Natasha B. Halasa, Laura S. Stewart, John V. Williams, Marian G. Michaels, Rangaraj Selvarangan, Jennifer E. Schuster, Leila C. Sahni, Julie A. Boom, Geoffrey A. Weinberg, Peter G. Szilagyi, Benjamin R. Clopper, Yingtao Zhou, Meredith L. McMorrow, Eileen J. Klein, and Heidi L. Moline (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)
