Works from 2024
Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases., Morten Alstrup, Fabrizia Cesca, Alicja Krawczun-Rygmaczewska, Celia López-Menéndez, Julia Pose-Utrilla, Filip Christian Castberg, Mia Ortved Bjerager, Candice Finnila, Michael C. Kruer, Somayeh Bakhtiari, Sergio Padilla-Lopez, Linda Manwaring, Boris Keren, Alexandra Afenjar, Daniele Galatolo, Roberta Scalise, Fillippo M. Santorelli, Amelle Shillington, Myriam Vezain, Jelena Martinovic, Cathy Stevens, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Isabelle Thiffault, Tomi Pastinen, Kristin Baranano, Angela Lee, Jorge Granadillo, Megan R. Glassford, Catherine E. Keegan, Nicole Matthews, Pascale Saugier-Veber, Teresa Iglesias, and Elsebet Østergaard (Article)
Accuracy of Influenza ICD-10 Diagnosis Codes in Identifying Influenza Illness in Children., James W. Antoon, Tess Stopczynski, Justin Z. Amarin, Laura S. Stewart, Julie A. Boom, Leila C. Sahni, 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, Ariana Perez, Heidi L. Moline, Andrew J. Spieker, Carlos G. Grijalva, Samantha M. Olson, and Natasha B. Halasa (Article)
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy., Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir Fonov, Maxime Lévesque, Chanshuai Han, Gopinath Kulasekaran, Marius Tuznik, Armin Bayati, Reem Al-Khater, Fowzan S. Alkuraya, Loukas Argyriou, Meisam Babaei, Melanie Bahlo, Behnoosh Bakhshoodeh, Eileen Barr, Lauren E. Bartik, Mahmoud Bassiony, Miriam Bertrand, Dominique Braun, Rebecca Buchert, Mauro Budetta, Maxime Cadieux-Dion, Daniel G. Calame, Heidi Cope, Donna Cushing, Stephanie Efthymiou, Marwa Abd Elmaksoud, Huda G. El Said, Tawfiq Froukh, Harinder K. Gill, Joseph G. Gleeson, Laura Gogoll, Elaine S-Y Goh, Vykuntaraju K Gowda, Tobias B. Haack, Mais O. Hashem, Stefan Hauser, Trevor L. Hoffman, Jacob S. Hogue, Akimoto Hosokawa, Henry Houlden, Kevin Huang, Stephanie Huynh, Ehsan G. Karimiani, Silke Kaulfuß, G Christoph Korenke, Amy Kritzer, Hane Lee, James R. Lupski, Elysa J. Marco, Kirsty McWalter, Arakel Minassian, Berge A. Minassian, David Murphy, Juanita Neira-Fresneda, Hope Northrup, Denis M. Nyaga, Barbara Oehl-Jaschkowitz, Matthew Osmond, Richard Person, Davut Pehlivan, Cassidy Petree, Lynette G. Sadleir, Carol J. Saunders, Ludger Schoels, Vandana Shashi, Rebecca C. Spillmann, Varunvenkat M. Srinivasan, Paria N. Torbati, Tulay Tos, Undiagnosed Diseases Network, Maha S. Zaki, Dihong Zhou, Christiane Zweier, Jean-François Trempe, Thomas M. Durcan, Ziv Gan-Or, Massimo Avoli, Cesar Alves, Gaurav K. Varshney, Reza Maroofian, David A. Rudko, and Peter S. McPherson (Article)
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)
Clinical and gene expression data reveal subtypes of pediatric T-cell acute lymphoblastic leukemia, Meghana Bhumireddy, Irina Pushel, Lisa A. Lansdon, Byunggil Yoo, Midhat S. Farooqi, and Keith August
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder., Maria Carla Borroto, Heena Patel, Siddharth Srivastava, Lindsay C. Swanson, Boris Keren, Sandra Whalen, Cyril Mignot, Xiaodong Wang, Qian Chen, Jill A. Rosenfeld, Scott McLean, Rebecca O. Littlejohn, Undiagnosed Diseases Network, Lisa Emrick, Lindsay C. Burrage, Ruben Attali, Gaetan Lesca, Cecile Acquaviva-Bourdain, Catherine Sarret, Laurie H. Seaver, Konrad Platzer, Tobias Bartolomaeus, Cornelia Wünsch, Susann Fischer, Ana Maria Rodriguez Barreto, Jorge L. Granadillo, Elisabeth Schreiner, Theresa Brunet, Ulrich A. Schatz, Isabelle Thiffault, Sureni V. Mullegama, Jacques L. Michaud, Fadi F. Hamdan, Elsa Rossignol, and Philippe M. Campeau (Article)
Medical Costs of Respiratory Syncytial Virus-Associated Hospitalizations and Emergency Department Visits in Children Aged Younger Than 5 Years: Observational Findings from the New Vaccine Surveillance Network, 2016-2019., Benjamin R. Clopper, Yingtao Zhou, Ayzsa Tannis, Mary Allen Staat, Marilyn Rice, Julie A. Boom, Leila C. Sahni, Rangaraj Selvarangan, Christopher J. Harrison, Natasha B. Halasa, Laura S. Stewart, Geoffrey A. Weinberg, Peter G. Szilagyi, Eileen J. Klein, Janet A. Englund, Brian Rha, Joana Y. Lively, Ismael R. Ortega-Sanchez, Meredith L. McMorrow, and Heidi L. Moline (Article)
Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations., Ana S A Cohen, Courtney D. Berrios, Tricia N. Zion, Cassandra Barrett, Riley Moore, Emelia Boillat, Bradley Belden, Emily G. Farrow, Isabelle Thiffault, Britton D Zuccarelli, and Tomi Pastinen (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)
Technical Note: Significant Positive Bias in Lower Concentrations but Negative Bias in Higher Concentrations in Testosterone Measurement Using Beckman Access Immunoassay Compared to a Liquid Chromatography-Tandem Mass Spectrometry Reference Method, Amitava Dasgupta, Kelsey Woodard, Bheemraj Ramoo, C. Clinton Frazee III, and Uttam Garg (Article)
TRBC1 in flow cytometry: Assay development, validation, and reporting considerations., Katherine A. Devitt, Wolfgang Kern, Weijie Li, Xuehai Wang, Allyson J. Wong, Felipe M. Furtado, Jean S. Oak, and Andrea Illingworth (Article)
Rotavirus Vaccine Effectiveness Against Severe Acute Gastroenteritis: 2009-2022., Alpha Oumar Diallo, Mary E. Wikswo, Iddrisu Sulemana, Leila C. Sahni, Julie A. Boom, Sasirekha Ramani, Rangaraj Selvarangan, Mary Moffatt, Christopher J. Harrison, Natasha Halasa, James Chappell, Laura Stewart, Mary Allen Staat, Elizabeth Schlaudecker, Christina Quigley, Eileen J. Klein, Janet A. Englund, Danielle M. Zerr, Geoffrey A. Weinberg, Peter G. Szilagyi, Christina Albertin, Samantha H. Johnston, John V. Williams, Marian G. Michaels, Robert W. Hickey, Aaron T. Curns, Michelle Honeywood, Slavica Mijatovic-Rustempasic, Mathew D. Esona, Michael D. Bowen, Umesh D. Parashar, Rashi Gautam, Sara A. Mirza, and Jacqueline E. Tate (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)
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants., Florence Fellmann, Carol J. Saunders, Marie-Françoise O'Donohue, David W. Reid, Kelsey A. McFadden, Nathalie Montel-Lehry, Cong Yu, Mingyan Fang, Jianguo Zhang, Beryl Royer-Bertrand, Pietro Farinelli, Narjesse Karboul, Jason R. Willer, Lorraine Fievet, Zahurul Alam Bhuiyan, Alissa Lw Kleinhenz, Julie Jadeau, Joy M. Fulbright, Carlo Rivolta, Raffaele Renella, Nicholas Katsanis, Jacques S. Beckmann, Christopher V. Nicchitta, Lydie Da Costa, Erica E. Davis, and Pierre-Emmanuel Gleizes (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)
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants., Francesca Furia, Amanda M. Levy, Miel Theunis, Michael J. Bamshad, Meghan N. Bartos, Emilia K. Bijlsma, Francesco Brancati, Lucile Cejudo, Jessica X. Chong, Chiara De Luca, Sarah Joy Dean, Alena Egense, Himanshu Goel, Adam J. Guenzel, Ulrike Hüffmeier, Eric Legius, Grazia M S Mancini, Iñigo Marcos-Alcalde, Tanguy Niclass, Marc Planes, Sylvia Redon, David Ros-Pardo, Karen Rouault, Rachel Schot, Sarah Schuhmann, Joseph J. Shen, Alice M. Tao, Isabelle Thiffault, Hilde Van Esch, Ingrid M. Wentzensen, Tahsin Stefan Barakat, Rikke S. Møller, Paulino Gomez-Puertas, Wendy K. Chung, Elena Gardella, and Zeynep Tümer (Article)
Challenges in therapeutic drug monitoring of classical tricyclic and newer antidepressants: analytical and pharmacogenetics considerations, Uttam Garg and Angela Ferguson (Book Chapter)
Liquid Chromatography-Tandem Mass Spectrometry Method for the Quantification of Plasma Busulfan., Uttam Garg, Ada Munar, and C. Clinton Frazee III (Article)
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway., Maolei Gong, Jiayi Li, Zailong Qin, Matheus Vernet Machado Bressan Wilke, Yijun Liu, Qian Li, Haoran Liu, Chen Liang, Joel A. Morales-Rosado, Ana S A Cohen, Susan S. Hughes, Bonnie Sullivan, Valerie A. Waddell, Marie-José H. van den Boogaard, Richard H. van Jaarsveld, Ellen van Binsbergen, Koen L. van Gassen, Tianyun Wang, Susan M. Hiatt, Michelle D. Amaral, Whitley V. Kelley, Jianbo Zhao, Weixing Feng, Changhong Ren, Yazhen Yu, Nicole J. Boczek, Matthew J. Ferber, Carrie Lahner, Sherr Elliott, Yiyan Ruan, Cyril Mignot, Boris Keren, Hua Xie, Xiaoyan Wang, Bernt Popp, Christiane Zweier, Juliette Piard, Christine Coubes, Frederic Tran Mau-Them, Hana Safraou, A Micheil Innes, Julie Gauthier, Jacques L. Michaud, Daniel C. Koboldt, Odent Sylvie, Marjolaine Willems, Wen-Hann Tan, Benjamin Cogne, Claudine Rieubland, Dominique Braun, Scott Douglas McLean, Konrad Platzer, Pia Zacher, Henry Oppermann, Lucie Evenepoel, Pierre Blanc, Laïla El Khattabi, Neshatul Haque, Nikita R. Dsouza, Michael T. Zimmermann, Raul Urrutia, Eric W. Klee, Yiping Shen, Hongzhen Du, Leonard Rappaport, Chang-Mei Liu, and Xiaoli Chen (Article)
Polypyrimidine Tract Binding Protein: A Universal Player in Cancer Development., Elizabeth Gonzalez, Terrie Flatt, Midhat S. Farooqi, Lisa Johnson, and Atif A. Ahmed (Article)
Characterizing Long COVID in Children and Adolescents., Rachel S. Gross, Tanayott Thaweethai, Lawrence C. Kleinman, Jessica N. Snowden, Erika B. Rosenzweig, Joshua D. Milner, Kelan G. Tantisira, Kyung E. Rhee, Terry L. Jernigan, Patricia A. Kinser, Amy L. Salisbury, David Warburton, Sindhu Mohandas, John C. Wood, Jane W. Newburger, Dongngan T. Truong, Valerie J. Flaherman, Torri D. Metz, Elizabeth W. Karlson, Lori B. Chibnik, Deepti B. Pant, Aparna Krishnamoorthy, Richard Gallagher, Michelle F. Lamendola-Essel, Denise C. Hasson, Stuart D. Katz, Shonna Yin, Benard P. Dreyer, Megan Carmilani, K Coombs, Megan L. Fitzgerald, Nick Güthe, Mady Hornig, Rebecca J. Letts, Aimee K. Peddie, Brittany D. Taylor, RECOVER-Pediatrics Consortium, RECOVER-Pediatrics Group Authors, Venkataraman Balaraman, Amanda Bogie, Hulya Bukulmez, Allen J. Dozor, Daniel Eckrich, Amy J. Elliott, Danielle N. Evans, Jonathan S. Farkas, E Vincent S. Faustino, Laura Fischer, Sunanda Gaur, Ashraf S. Harahsheh, Uzma N. Hasan, Daniel S. Hsia, Gredia Huerta-Montañez, Kathy D. Hummel, Matt P. Kadish, David C. Kaelber, Sankaran Krishnan, Jessica S. Kosut, Jerry Larrabee, Peter Paul C. Lim, Ian C. Michelow, Carlos R. Oliveira, Hengameh Raissy, Zaira Rosario-Pabon, Judith L. Ross, Alice I. Sato, Michelle D. Stevenson, Maria M. Talavera-Barber, Ronald J. Teufel, Kathryn E. Weakley, Emily Zimmerman, Marie-Abele C. Bind, James Chan, Zoe Guan, Richard E. Morse, Harrison T. Reeder, Natascha Akshoomoff, Judy L. Aschner, Rakesh Bhattacharjee, Lesley A. Cottrell, Kelly Cowan, Viren A. D'Sa, Alexander G. Fiks, Maria L. Gennaro, Katherine Irby, Manaswitha Khare, Jeremy Landeo Guttierrez, Russell J. McCulloh, Shalu Narang, Manette Ness-Cochinwala, Sheila Nolan, Paul Palumbo, Julie Ryu, Juan C. Salazar, Rangaraj Selvarangan, Cheryl R. Stein, Alan Werzberger, William T. Zempsky, Robin Aupperle, Fiona C. Baker, Marie T. Banich, Deanna M. Barch, Arielle Baskin-Sommers, James M. Bjork, Susan Y. Bookheimer, Sandra A. Brown, B J Casey, Linda Chang, Duncan B. Clark, Anders M. Dale, Mirella Dapretto, Thomas M. Ernst, Damien A. Fair, Sarah W. Feldstein Ewing, John J. Foxe, Edward G. Freedman, Naomi P. Friedman, Hugh Garavan, Dylan G. Gee, Raul Gonzalez, Kevin M. Gray, Mary M. Heitzeg, Megan M. Herting, Joanna Jacobus, Angela R. Laird, Christine L. Larson, Krista M. Lisdahl, Monica Luciana, Beatriz Luna, Pamela A F Madden, Erin C. McGlade, Eva M. Müller-Oehring, Bonnie J. Nagel, Michael C. Neale, Martin P. Paulus, Alexandra S. Potter, Perry F. Renshaw, Elizabeth R. Sowell, Lindsay M. Squeglia, Susan Tapert, Lucina Q. Uddin, Sylia Wilson, Deborah A. Yurgelun-Todd, Andrea S. Foulkes, and Melissa S. Stockwell (Article)
Researching COVID to enhance recovery (RECOVER) pediatric study protocol: Rationale, objectives and design., Rachel S. Gross, Tanayott Thaweethai, Erika B. Rosenzweig, James Chan, Lori B. Chibnik, Mine S. Cicek, Amy J. Elliott, Valerie J. Flaherman, Andrea S. Foulkes, Margot Gage Witvliet, Richard Gallagher, Maria Laura Gennaro, Terry L. Jernigan, Elizabeth W. Karlson, Stuart D. Katz, Patricia A. Kinser, Lawrence C. Kleinman, Michelle F. Lamendola-Essel, Joshua D. Milner, Sindhu Mohandas, Praveen C. Mudumbi, Jane W. Newburger, Kyung E. Rhee, Amy L. Salisbury, Jessica N. Snowden, Cheryl R. Stein, Melissa S. Stockwell, Kelan G. Tantisira, Moriah E. Thomason, Dongngan T. Truong, David Warburton, John C. Wood, Shifa Ahmed, Almary Akerlundh, Akram N. Alshawabkeh, Brett R. Anderson, Judy L. Aschner, Andrew M. Atz, Robin L. Aupperle, Fiona C. Baker, Venkataraman Balaraman, Dithi Banerjee, Deanna M. Barch, Arielle Baskin-Sommers, Sultana Bhuiyan, Marie-Abele C. Bind, Amanda L. Bogie, Tamara Bradford, Natalie C. Buchbinder, Elliott Bueler, Hülya Bükülmez, B J Casey, Linda Chang, Maryanne Chrisant, Duncan B. Clark, Rebecca G. Clifton, Katharine N. Clouser, Lesley Cottrell, Kelly Cowan, Viren D'Sa, Mirella Dapretto, Soham Dasgupta, Walter Dehority, Audrey Dionne, Kirsten B. Dummer, Matthew D. Elias, Shari Esquenazi-Karonika, Danielle N. Evans, E Vincent S. Faustino, Alexander G. Fiks, Daniel Forsha, John J. Foxe, Naomi P. Friedman, Greta Fry, Sunanda Gaur, Dylan G. Gee, Kevin M. Gray, Stephanie Handler, Ashraf S. Harahsheh, Keren Hasbani, Andrew C. Heath, Camden Hebson, Mary M. Heitzeg, Christina M. Hester, Sophia Hill, Laura Hobart-Porter, Travis K F Hong, Carol R. Horowitz, Daniel S. Hsia, Matthew Huentelman, Kathy D. Hummel, Katherine Irby, Joanna Jacobus, Vanessa L. Jacoby, Pei-Ni Jone, David C. Kaelber, Tyler J. Kasmarcak, Matthew J. Kluko, Jessica S. Kosut, Angela R. Laird, Jeremy Landeo-Gutierrez, Sean M. Lang, Christine L. Larson, Peter Paul C. Lim, Krista M. Lisdahl, Brian W. McCrindle, Russell J. McCulloh, Kimberly McHugh, Alan L. Mendelsohn, Torri D. Metz, Julie Miller, Elizabeth C. Mitchell, Lerraughn M. Morgan, Eva M. Müller-Oehring, Erica R. Nahin, Michael C. Neale, Manette Ness-Cochinwala, Sheila M. Nolan, Carlos R. Oliveira, Onyekachukwu Osakwe, Matthew E. Oster, R Mark Payne, Michael A. Portman, Hengameh Raissy, Isabelle G. Randall, Suchitra Rao, Harrison T. Reeder, Johana M. Rosas, Mark W. Russell, Arash A. Sabati, Yamuna Sanil, Alice I. Sato, Michael S. Schechter, Rangaraj Selvarangan, S Kristen Sexson Tejtel, Divya Shakti, Kavita Sharma, Lindsay M. Squeglia, Shubika Srivastava, Michelle D. Stevenson, Jacqueline Szmuszkovicz, Maria M. Talavera-Barber, Ronald J. Teufel, Deepika Thacker, Felicia Trachtenberg, Mmekom M. Udosen, Megan R. Warner, Sara E. Watson, Alan Werzberger, Jordan C. Weyer, Marion J. Wood, H Shonna Yin, William T. Zempsky, Emily Zimmerman, Benard P. Dreyer, and RECOVER-Pediatric Consortium (Article)
A multicenter analysis of individuals with a 47,XXY/46,XX karyotype., Tiffany Guess, Ferrin C. Wheeler, Ashwini Yenamandra, Samantha L P Schilit, Hannah S. Anderson, Kathleen M. Bone, Billie Carstens, Laura Conlin, Matthew C. Dulik, Barbra R. Dupont, Elizabeth Fanning, Juli-Anne Gardner, Mary Haag, Benjamin A. Hilton, Jill Johnson, Jillene Kogan, Jacyln Murry, Katarzyna Polonis, Denise I. Quigley, Elena Repnikova, Ross A. Rowsey, Nancy Spinner, Mikayla Stoeker, Virginia Thurston, Margaret Wiley, and Lei Zhang (Article)
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly., Charlotte Herbst, Viktoria Bothe, Meret Wegler, Susanne Axer-Schaefer, Séverine Audebert-Bellanger, Jozef Gecz, Benjamin Cogne, Hagit Baris Feldman, Anselm H C Horn, Anna C E Hurst, Melissa A. Kelly, Michael C. Kruer, Alina Kurolap, Annie Laquerriere, Megan Li, Paul R. Mark, Markus Morawski, Mathilde Nizon, Tomi Pastinen, Tilman Polster, Pascale Saugier-Veber, Jang SeSong, Heinrich Sticht, Jens T. Stieler, Isabelle Thiffault, Clare L. van Eyk, Pascale Marcorelles, Myriam Vezain-Mouchard, Rami Abou Jamra, and Henry Oppermann (Article)
On-time childhood vaccination before and during the COVID-19 pandemic in seven communities: Findings from the New Vaccine Surveillance Network., Annika M. Hofstetter, Eileen J. Klein, Bonnie Strelitz, Rangaraj Selvarangan, Jennifer E. Schuster, Julie A. Boom, Leila C. Sahni, Natasha B. Halasa, Laura S. Stewart, Mary Allen Staat, Chelsea Rohlfs, Peter G. Szilagyi, Geoffrey A. Weinberg, John V. Williams, Marian G. Michaels, Heidi Moline, Sara A. Mirza, Christopher J. Harrison, and Janet A. Englund (Article)
14-month-old female with anti-MDA5 juvenile dermatomyositis complicated by liver disease: a case report., Mitch Kinkor, Sameena Hameed, Alexander Kats, Voytek Slowik, Emily Fox, and Maria Ibarra (Article)
Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes., Erica Sanford Kobayashi, Nava Shaul Lotan, Yael Dinur Schejter, Christine Makowski, Verena Kraus, Nanda Ramchandar, Vardiella Meiner, Isabelle Thiffault, Emily G. Farrow, Julie Cakici, Stephen Kingsmore, Matias Wagner, Nikolaus Rieber, and Matthew Bainbridge (Article)
Brain malformations and seizures by impaired chaperonin function of TRiC., Florian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan, Lena Franken, Kamil Zajt, Dimah Hasan, Ting-Ting Lee, Elisabetta Flex, Andreas Hentschel, A Micheil Innes, Bixia Zheng, Dong Sun Julia Suh, Cordula Knopp, Eva Lausberg, Jeremias Krause, Xiaomeng Zhang, Pamela Trapane, Riley Carroll, Martin McClatchey, Andrew E. Fry, Lisa Wang, Sebastian Giesselmann, Hieu Hoang, Dustin Baldridge, Gary A. Silverman, Francesca Clementina Radio, Enrico Bertini, Andrea Ciolfi, Katherine A. Blood, Jean-Madeleine de Sainte Agathe, Perrine Charles, Gaber Bergant, Goran Čuturilo, Borut Peterlin, Karin Diderich, Haley Streff, Laurie Robak, Renske Oegema, Ellen van Binsbergen, John Herriges, Carol J. Saunders, Andrea Maier, Stefan Wolking, Yvonne Weber, Hanns Lochmüller, Stefanie Meyer, Alberto Aleman, Kiran Polavarapu, Gael Nicolas, Alice Goldenberg, Lucie Guyant, Kathleen Pope, Katherine N. Hehmeyer, Kristin G. Monaghan, Annegret Quade, Thomas Smol, Roseline Caumes, Sarah Duerinckx, Chantal Depondt, Wim Van Paesschen, Claudine Rieubland, Claudia Poloni, Michel Guipponi, Severine Arcioni, Marije Meuwissen, Anna C. Jansen, Jessica Rosenblum, Tobias B. Haack, Miriam Bertrand, Lea Gerstner, Janine Magg, Olaf Riess, Jörg B. Schulz, Norbert Wagner, Martin Wiesmann, Joachim Weis, Thomas Eggermann, Matthias Begemann, Andreas Roos, Martin Häusler, Tim Schedl, Marco Tartaglia, Juliane Bremer, Stephen C. Pak, Judith Frydman, Miriam Elbracht, and Ingo Kurth (Article)
Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis., Brian Lee, Lily Nasanovsky, Lishuang Shen, Dennis T. Maglinte, Yachen Pan, Xiaowu Gai, Ryan J. Schmidt, Gordana Raca, Jaclyn A. Biegel, Megan Roytman, Paul An, Carol J. Saunders, Emily G. Farrow, Soheil Shams, and Jianling Ji (Article)
Repeat tracheal aspirate cultures in pediatric intensive care patients: Frequency, resistance, and antimicrobial use., Edward Lyon, Jennifer Goldman, Brian R. Lee, Margaret Campbell, Rangaraj Selvarangan, and Elizabeth Monsees (Article)
Respiratory Syncytial Virus-Associated Hospitalizations in Children <5 Years:>2016-2022., Meredith L. McMorrow, Heidi L. Moline, Ariana P. Toepfer, Natasha B. Halasa, Jennifer E. Schuster, Mary A. Staat, John V. Williams, Eileen J. Klein, Geoffrey A. Weinberg, Benjamin R. Clopper, Julie A. Boom, Laura S. Stewart, Rangaraj Selvarangan, Elizabeth P. Schlaudecker, Marian G. Michaels, Janet A. Englund, Christina S. Albertin, Barbara E. Mahon, Aron J. Hall, Leila C. Sahni, and Aaron T. Curns (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)
Constitutive STAT5 activation in precursor B-cell acute lymphoblastic leukemia with P2RY8::CRLF2 fusion., Roxanne Nieder and Weijie Li (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)
DPYD Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, American College of Medical Genetics and Genomics, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, Pharmacogenomics Knowledgebase, and Pharmacogene Variation Consortium., Victoria M. Pratt, Larisa H. Cavallari, Makenzie L. Fulmer, Andrea Gaedigk, Houda Hachad, Yuan Ji, Lisa V. Kalman, Reynold C. Ly, Ann M. Moyer, Stuart A. Scott, Amy J. Turner, Ron H N van Schaik, Michelle Whirl-Carrillo, and Karen E. Weck (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)
Respiratory Syncytial Virus (RSV) Transmission in Household Settings, Montserrat Santos, Anjana Sasidharan, Trina Regis, Kelly Fatheree, Manjusha Rani, Dithi Banerjee, and Rangaraj Selvarangan
Diagnosis, management, and outcomes of parechovirus infections in infants: an overview., Anjana Sasidharan, Christopher J. Harrison, and Rangaraj Selvarangan (Article)
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)
Evaluation of Hi-C Sequencing for Detection of Gene Fusions in Hematologic and Solid Tumor Pediatric Cancer Samples., Anthony D. Schmitt, Kristin Sikkink, Atif A. Ahmed, Shadi Melnyk, Derek Reid, Logan Van Meter, Erin M Guest, Lisa A. Lansdon, Tomi Pastinen, Irina Pushel, Byunggil Yoo, and Midhat S. Farooqi (Article)
School knowledge of infectious diseases in schools: conducting surveillance and on-demand, symptomatic respiratory viral testing in a large pre-kindergarten-12th grade school district., Jennifer E. Schuster, Tamoor T Chohdry, Chris T. Young, Brian R. Lee, Dithi Banerjee, Anjana Sasidharan, Olivia M Almendares, Hannah L Kirking, Janelle Porter, Anila Deliu, Shannon Tilsworth, Rangaraj Selvarangan, and Jennifer Goldman (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)
Influenza C virus in U.S. children with acute respiratory infection 2016-2019., Bethany K. Sederdahl, Geoffrey A. Weinberg, Angela P. Campbell, Rangaraj Selvarangan, Jennifer E. Schuster, Joana Y. Lively, Samantha M. Olson, Julie A. Boom, Pedro A. Piedra, Natasha B. Halasa, Laura Stewart, Peter G. Szilagyi, G K Balasubramani, Theresa Sax, Judith M. Martin, Robert W. Hickey, Marian G. Michaels, John V. Williams, and New Vaccine Surveillance Network (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)
Seasonality, Clinical Characteristics, and Outcomes of Respiratory Syncytial Virus Disease by Subtype Among Children Aged <5 Years: New Vaccine Surveillance>Network, United States, 2016-2020., Ariana P. Toepfer, Justin Z. Amarin, Andrew J. Spieker, Laura S. Stewart, Mary Allen Staat, Elizabeth P. Schlaudecker, Geoffrey A. Weinberg, Peter G. Szilagyi, Janet A. Englund, Eileen J. Klein, Marian G. Michaels, John V. Williams, Rangaraj Selvarangan, Christopher J. Harrison, Joana Y. Lively, Pedro A. Piedra, Vasanthi Avadhanula, Brian Rha, James Chappell, Meredith McMorrow, Heidi Moline, and Natasha B. Halasa (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)
Evaluation of a Modified Vesikari Severity Score as a Research Tool for Assessing Pediatric Acute Gastroenteritis., Mary E. Wikswo, Geoffrey A. Weinberg, Peter G. Szilagyi, Rangaraj Selvarangan, Christopher J. Harrison, Eileen J. Klein, Janet A. Englund, Leila C. Sahni, Julie A. Boom, Natasha B. Halasa, Laura S. Stewart, Mary Allen Staat, Elizabeth P. Schlaudecker, Parvin H. Azimi, Samantha H. Johnston, and Sara A. Mirza (Article)
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors., Jana Willim, Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Weimin Yuan, Anika Lindsey, Omar Itani, Amber L. Böhme, Debora Tibbe, Hans-Hinrich Hönck, Fatemeh Hassani Nia, Undiagnosed Diseases Network, Michael Zech, Theresa Brunet, Laurence Faivre, Arthur Sorlin, Antonio Vitobello, Thomas Smol, Cindy Colson, Kristin Baranano, Krista Schatz, Allan Bayat, Kelly Schoch, Rebecca Spillmann, Erica E. Davis, Erin Conboy, Francesco Vetrini, Konrad Platzer, Sonja Neuser, Janina Gburek-Augustat, Alexandra Noel Grace, Bailey Mitchell, Alexander Stegmann, Margje Sinnema, Naomi Meeks, Carol Saunders, Maxime Cadieux-Dion, Juliane Hoyer, Julien Van-Gils, Jean-Madeleine de Sainte-Agathe, Michelle L. Thompson, E Martina Bebin, Monika Weisz-Hubshman, Anne-Claude Tabet, Alain Verloes, Jonathan Levy, Xenia Latypova, Sönke Harder, Gary A. Silverman, Stephen C. Pak, Tim Schedl, Kathleen Freson, Andrew Mumford, Ernest Turro, Christian Schlein, Vandana Shashi, and Hans-Jürgen Kreienkamp (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)
