The Genomic Medicine Center at Children's Mercy was established in 2011. Among the first of its kind with a pediatric focus, the center provides clinical genomic services and is an epicenter for genomic research. Although our focus is sequencing and analysis of rare inherited diseases in children, plans are underway for expansion into a translational cancer genomics program and the use of pharmacogenomics in precision medicine.
The Genetics Clinic at Children's Mercy provides state-of-the-art evaluation, diagnosis, treatment and counseling for a variety of inherited conditions and chromosome disorders and genetic birth defects. The team includes physicians who are board-certified by the American Board of Medical Genetics and Genomics and genetic counselors.
Works from 2025
SF3B2 Haploinsufficiency Associated With Hirschprung Disease and Complex Cardiac Defect Without Craniofacial Microsomia., Florencia Del Viso, Dihong Zhou, Susan Starling, Emily Fleming, and Carol J. Saunders (Article)
Comparative analysis of neural crest development in the chick and mouse, J A. Morrison, Irina Pushel, Rebecca McLennan, M C. McKinney, M M. Gogol, A Scott, R Krumlauf, and Paul Kulesa (Article)
Works from 2024
Urinary Melatonin-sulfate in Pediatric Patients with Inflammatory Bowel Disease: A Pilot Study, Moises Alatorre-Jimenez, Kathryn Clarkston, Craig Smail, Norah Almahbub, Craig A. Friesen, and Rachel Chevalier
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)
Epigenetic variation impacts individual differences in the transcriptional response to influenza infection., Katherine A. Aracena, Yen-Lung Lin, Kaixuan Luo, Alain Pacis, Saideep Gona, Zepeng Mu, Vania Yotova, Renata Sindeaux, Albena Pramatarova, Marie-Michelle Simon, Xun Chen, Cristian Groza, David Lougheed, Romain Gregoire, David Brownlee, Carly Boye, Roger Pique-Regi, Yang Li, Xin He, David Bujold, Tomi Pastinen, Guillaume Bourque, and Luis B. Barreiro (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)
Downstream Exclusion in Rural Rare Disease Precision Medicine Research., Cassandra Barrett and Courtney D. Berrios (Response or Comment)
Developing a community-led rare disease ELSI research agenda., Courtney D. Berrios, Macy McBeth, Andrea Bradley-Ewing, Nikolaus Schuetz, Annette Campbell, Zohreh Talebizadeh, Jeremy R. Garrett, Tamara Falicov, Francisco J. Martinez, Rare Voices Advisory Group, and Emily A. Hurley (Article)
Comparing Attitudes About Genomic Privacy and Data Sharing in Adolescents and Parents of Children Enrolled in a Genomic Research Repository., Courtney D. Berrios, Shelby Neal, Tricia N. Zion, and T Pastinen (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)
Triggered - does maternal COVID-19 program an exaggerated immune response in neonates?, Todd Bradley, Megan H. Tucker, and Venkatesh Sampath (Response or Comment)
The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance., Maria Luisa Brandi, Aliya A. Khan, Eric T. Rush, Dalal S. Ali, Hatim Al-Alwani, Khulod Almonaei, Farah Alsarraf, Severine Bacrot, Kathryn M. Dahir, Karel Dandurand, Chad Deal, Serge Livio Ferrari, Francesca Giusti, Gordon Guyatt, Erin Hatcher, Steven W. Ing, Muhammad Kassim Javaid, Sarah Khan, Roland Kocijan, E Michael Lewiecki, Agnes Linglart, Iman M'Hiri, Francesca Marini, Mark E. Nunes, Cheryl Rockman-Greenberg, Lothar Seefried, Jill H. Simmons, Susan R. Starling, Leanne M. Ward, Liang Yao, Romina Brignardello-Petersen, and Christian Roux (Article)
Enhanced resolution profiling in twins reveals differential methylation signatures of type 2 diabetes with links to its complications., Colette Christiansen, Louis Potier, Tiphaine C. Martin, Sergio Villicaña, Juan E. Castillo-Fernandez, Massimo Mangino, Cristina Menni, Pei-Chien Tsai, Purdey J. Campbell, Shelby Mullin, Juan R. Ordoñana, Olga Monteagudo, Perminder S. Sachdev, Karen A. Mather, Julian N. Trollor, Kirsi H. Pietilainen, Miina Ollikainen, Christine Dalgård, Kirsten Kyvik, Kaare Christensen, Jenny van Dongen, Gonneke Willemsen, Dorret I. Boomsma, Patrik K E Magnusson, Nancy L. Pedersen, Scott G. Wilson, Elin Grundberg, Tim D. Spector, and Jordana T. Bell (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)
Improvement in quality of life after asfotase alfa treatment in adults with pediatric-onset hypophosphatasia: data from 5 patient-reported outcome measures., Kathryn M. Dahir, Steven W. Ing, Chad Deal, Andrew Messali, Toby Bates, and Eric T. Rush (Article)
A Delphi panel to build consensus on assessing disease severity and disease progression in adult patients with hypophosphatasia in the United States., K M Dahir, Eric T. Rush, S Diaz-Mendoza, and P S Kishnani (Article)
Characterization and visualization of tandem repeats at genome scale., Egor Dolzhenko, Adam English, Harriet Dashnow, Guilherme De Sena Brandine, Tom Mokveld, William J. Rowell, Caitlin Karniski, Zev Kronenberg, Matt C. Danzi, Warren A. Cheung, Chengpeng Bi, Emily G. Farrow, Aaron Wenger, Khi Pin Chua, Verónica Martínez-Cerdeño, Trevor D. Bartley, Peng Jin, David L. Nelson, Stephan Zuchner, Tomi Pastinen, Aaron R. Quinlan, Fritz J. Sedlazeck, and Michael A. Eberle (Article)
The Global ALPL gene variant classification project: Dedicated to deciphering variants., Mariam R. Farman, Catherine Rehder, Theodora Malli, Cheryl Rockman-Greenberg, Kathryn Dahir, Gabriel Ángel Martos-Moreno, Agnès Linglart, Keiichi Ozono, Lothar Seefried, Guillermo Del Angel, Gerald Webersinke, Francesca Barbazza, Lisa K. John, Sewmi M A Delana Mudiyanselage, Florian Högler, Erica Burner Nading, Erin Huggins, Eric T. Rush, Ahmed El-Gazzar, Priya S. Kishnani, and Wolfgang Högler (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)
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)
Epigenetic drug screen of natural killer cells identified compounds controlling immune training and tolerance, Eric S. Geanes, Elizabeth R. Fraley, Stephen H. Pierce, Rebecca McLennan, and Todd Bradley
Autoantibodies to ACE2 and immune molecules are associated with COVID-19 disease severity., Eric S. Geanes, Rebecca McLennan, Cas LeMaster, and Todd Bradley (Article)
SARS-CoV-2 envelope protein regulates innate immune tolerance., Eric S. Geanes, Rebecca McLennan, Stephen H. Pierce, Heather Menden, Oishi Paul, Venkatesh Sampath, and Todd Bradley (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)
Design and testing of mosaic enterovirus vaccine to prevent hand, foot and mouth disease, Gage Greening, Rebecca McLennan, Eric S. Geanes, Santosh Khanal, Oishi Paul, Surya Rangaraj, and Todd Bradley
Pangenome graphs improve the analysis of structural variants in rare genetic diseases., Cristian Groza, Carl F. Schreck, Warren A. Cheung, Emily G. Farrow, Isabelle Thiffault, Juniper Lake, William B. Rizzo, Gilad Evrony, Tom Curran, Guillaume Bourque, and T Pastinen (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)
Azacitidine as epigenetic priming for chemotherapy is safe and well-tolerated in infants with newly diagnosed KMT2A-rearranged acute lymphoblastic leukemia: Children's Oncology Group trial AALL15P1, Erin M. Guest, John A Kairalla, Meenakshi Devidas, Emily Hibbitts, Andrew J. Carroll, Nyla A. Heerema, Holly R. Kubaney, Margaret A. August, Sidharth Ramesh, Byunggil Yoo, Midhat S. Farooqi, Melinda G. Pauly, Daniel S. Wechsler, Rodney R. Miles, Joel M. Reid, Cynthia D. Kihei, Lia Gore, Elizabeth A. Raetz, Stephen P. Hunger, Mignon L. Loh, and Patrick A. Brown (Article)
Independent expansion, selection, and hypervariability of the TBC1D3 gene family in humans, Xavi Guitart, David Porubsky, DongAhn Yoo, Max L. Dougherty, Philip C. Dishuck, Katherine M. Munson, Alexandra P. Lewis, Kendra Hoekzema, Jordan Knuth, Stephen Chang, Tomi Pastinen, and Evan E. Eichler (Article)
Expanding Access to Genetic Testing to Rural Populations, Rania Habib and Ana S A Cohen (Podcast)
Precision Medicine in Pediatrics: Genetic Testing for Children with Cancer, Rania Habib, Midhat Farooqi, and Lisa A. Lansdon (Podcast)
Genomic Answers for Kids Expands Sequencing to Clinical Setting, Rania Habib and Tomi Pastinen (Podcast)
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)
Key regulators of syncytiotrophoblast cell lineage development in human placentation, Ashley Howard, Keisuke Kozai, Boryana Koseva, Michael J. Soares, Elin Grundberg, and Kaela Varberg
Conditionally mutant animal model for investigating the invasive trophoblast cell lineage., Khursheed Iqbal, Esteban M. Dominguez, Brandon Nixon, Ayelen Moreno-Irusta, Benjamin Crnkovich, Regan L. Scott, Ha T H Vu, Geetu Tuteja, Jay L. Vivian, and Michael J. Soares (Article)
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity., Tassja Kalm, Claudia Schob, Hanna Völler, Thatjana Gardeitchik, Christian Gilissen, Rolph Pfundt, Chiara Klöckner, Konrad Platzer, Annick Klabunde-Cherwon, Markus Ries, Steffen Syrbe, Francesca Beccaria, Francesca Madia, Marcello Scala, Federico Zara, Floris Hofstede, Marleen E H Simon, Richard H. van Jaarsveld, Renske Oegema, Koen L I van Gassen, Sjoerd J B Holwerda, Tahsin Stefan Barakat, Arjan Bouman, Marjon van Slegtenhorst, Sara Álvarez, Alberto Fernández-Jaén, Javier Porta, Andrea Accogli, Margherita Maria Mancardi, Pasquale Striano, Michele Iacomino, Jong-Hee Chae, SeSong Jang, Soo Y. Kim, David Chitayat, Saadet Mercimek-Andrews, Christel Depienne, Antje Kampmeier, Alma Kuechler, Harald Surowy, Enrico Silvio Bertini, Francesca Clementina Radio, Cecilia Mancini, Simone Pizzi, Marco Tartaglia, Lucas Gauthier, David Genevieve, Mylène Tharreau, Noy Azoulay, Gal Zaks-Hoffer, Nesia K. Gilad, Naama Orenstein, Geneviève Bernard, Isabelle Thiffault, Jonas Denecke, Theresia Herget, Fanny Kortüm, Christian Kubisch, Robert Bähring, and Stefan Kindler (Article)
Genomic insights into pediatric intestinal inflammatory and eosinophilic disorders using single-cell RNA-sequencing., Marissa R. Keever-Keigher, Lisa Harvey, Veronica Williams, Carrie A Vyhlidal, Atif A Ahmed, Jeffrey J. Johnston, Daniel A. Louiselle, Elin Grundberg, Tomi Pastinen, Craig A. Friesen, Rachel Chevalier, Craig Smail, and Valentina Shakhnovich (Article)
Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults., Aliya A. Khan, Maria Luisa Brandi, Eric T. Rush, Dalal S. Ali, Hatim Al-Alwani, Khulod Almonaei, Farah Alsarraf, Severine Bacrot, Kathryn M. Dahir, Karel Dandurand, Chad Deal, Serge Livio Ferrari, Francesca Giusti, Gordon Guyatt, Erin Hatcher, Steven W. Ing, Muhammad Kassim Javaid, Sarah Khan, Roland Kocijan, Agnes Linglart, Iman M'Hiri, Francesca Marini, Mark E. Nunes, Cheryl Rockman-Greenberg, Christian Roux, Lothar Seefried, Jill H. Simmons, Susan R. Starling, Leanne M. Ward, Liang Yao, Romina Brignardello-Petersen, and E Michael Lewiecki (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)
Development of an Isoform Atlas in Pediatric Patients with Rare Diseases using Iso-seq, Boryana Koseva
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)
Prospective characterization of early symptom onset and progression in young pediatric patients with variants in the G LA gene across 5 years: Longitudinal data from the Fabry MOPPet Study, D A Laney, M F Houde, A L Foley, D S Peck, A M Atherton, L P Manwaring, D K Grange, Bryce Heese, M D Holida, A L Quillin, R Vinson, C Auray-Blais, and R J Hopkin (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)
DNA mismatch and damage patterns revealed by single-molecule sequencing., Mei Hong Liu, Benjamin M. Costa, Emilia C. Bianchini, Una Choi, Rachel C. Bandler, Emilie Lassen, Marta Grońska-Pęski, Adam Schwing, Zachary R. Murphy, Daniel Rosenkjær, Shany Picciotto, Vanessa Bianchi, Lucie Stengs, Melissa Edwards, Nuno Miguel Nunes, Caitlin A. Loh, Tina K. Truong, Randall E. Brand, Tomi Pastinen, J Richard Wagner, Anne-Bine Skytte, Uri Tabori, Jonathan E. Shoag, and Gilad D. Evrony (Article)
EpiVar Browser: advanced exploration of epigenomics data under controlled access., David R. Lougheed, Hanshi Liu, Katherine A. Aracena, Romain Grégoire, Alain Pacis, Tomi Pastinen, Luis B. Barreiro, Yann Joly, David Bujold, and Guillaume Bourque (Article)
Hypoglycemia in a 4-day-old Girl., Elizabeth Loughman, Jennifer L. Gannon, J Sharma, and Christopher R. Nitkin (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)
Establishing a Biorepository and Data Bank for Perinatal Research, Brynne Musser, Marc Parrish, Megan Thomas, Shilpa Babbar, Samantha Nguyen, Elin Grundberg, and Michael J. Soares
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)
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus., David Pellerin, Giulia F. Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji K. Nageshwaran, Warren A. Cheung, Isaac R L Xu, Marie-Josée Dicaire, Guinevere Spurdens, Gabriel Matos-Rodrigues, Igor Stevanovski, Carolin K. Scriba, Adriana Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Aman Agarwal, Cyril Peter, Dan Hasson, Nadejda M. Tsankova, Ken Dewar, Phillipa J. Lamont, Nigel G. Laing, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Karen Usdin, Andre Nussenzweig, Marek Napierala, Zhao Chen, Hong Jiang, Ira W. Deveson, Gianina Ravenscroft, Schahram Akbarian, Michael A. Eberle, Kym M. Boycott, Tomi Pastinen, All of Us Research Program Long Read Working Group, Bernard Brais, Stephan Zuchner, and Matt C. Danzi (Article)
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans., Victoria E. Rael, Julian A. Yano, John P. Huizar, Leianna C. Slayden, Madeleine A. Weiss, Elizabeth A. Turcotte, Jacob M. Terry, Wenqi Zuo, Isabelle Thiffault, Tomi Pastinen, Emily G. Farrow, Janda L. Jenkins, Mara L. Becker, Stephen C. Wong, Anne M. Stevens, Catherine Otten, Eric J. Allenspach, Devon E. Bonner, Jonathan A. Bernstein, Matthew T. Wheeler, Robert A. Saxton, Undiagnosed Diseases Network, Bo Liu, Olivia Majer, and Gregory M. Barton (Article)
Focal cortical dysplasia type IIIb associated with a KRAS-mutant ganglioglioma., Elena Repnikova, Lei Zhang, Brent A. Orr, Jennifer Roberts, Timothy Zinkus, Melissa Gener, and Alexander Kats (Article)
Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group., Eric T. Rush, Maria Luisa Brandi, Aliya Khan, Dalal S. Ali, Hatim Al-Alwani, Khulod Almonaei, Farah Alsarraf, Severine Bacrot, Kathryn M. Dahir, Karel Dandurand, Chad Deal, Serge Livio Ferrari, Francesca Giusti, Gordon Guyatt, Erin Hatcher, Steven W. Ing, Muhammad Kassim Javaid, Sarah Khan, Roland Kocijan, E Michael Lewiecki, Agnes Linglart, Iman M'Hiri, Francesca Marini, Mark E. Nunes, Cheryl Rockman-Greenberg, Christian Roux, Lothar Seefried, Susan Starling, Leanne Ward, Liang Yao, Romina Brignardello-Petersen, and Jill H. Simmons (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)
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)
Complex trait associations in rare diseases and impacts on Mendelian variant interpretation., Craig Smail, Bing Ge, Marissa R. Keever-Keigher, Carl F. Schreck, Warren A. Cheung, Jeffrey J. Johnston, Cassandra Barrett, Genomic Answers for Kids Consortium, Keith Feldman, Ana S A Cohen, Emily G. Farrow, Isabelle Thiffault, Elin Grundberg, and Tomi Pastinen (Article)
RNA Sequencing in Disease Diagnosis., Craig Smail and Stephen B. Montgomery (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)
A Genomics Driven Human Induced Pluripotent Stem Cell Model of Infant ALL – Updates on Hematopoietic Differentiation, Meagan Vacek, Jacqelyn Nemechek, Irina Pushel, Priyanka Kumar, Bradley Thornton, Molly Leyda, Midhat Farooqi, Erin Guest, Jay L. Vivian, and John M. Perry (Poster)
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)
Addressing dispersion in mis-measured multivariate binomial outcomes: A novel statistical approach for detecting differentially methylated regions in bisulfite sequencing data., Kaiqiong Zhao, Karim Oualkacha, Yixiao Zeng, Cathy Shen, Kathleen Klein, Lajmi Lakhal-Chaieb, Aurélie Labbe, Tomi Pastinen, Marie Hudson, Inés Colmegna, Sasha Bernatsky, and Celia M T Greenwood (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)
Variable Cre Recombination Efficiency in Placentas of Cyp19-Cre ROSA mT/mG Transgenic Mice, Prashanth Anamthathmakula, Philemon D. Shallie, Neha Nayak, Sabita Dhal, Jay L. Vivian, Gil Mor, Michael J. Soares, and Nihar R. Nayak (Article)
Genetic heterogeneity and enrichment of variants in DNA-repair genes in ameloblastoma., Waheed Awotoye, Joseph Craig Whitt, Byunggil Yoo, Midhat S. Farooqi, Emily G. Farrow, Veerasathpurush Allareddy, Brad A. Amendt, and Shankar Rengasamy Venugopalan (Article)
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans., Zeineb Bakey, Oscar A. Cabrera, Julia Hoefele, Dinu Antony, Kaman Wu, Michael W. Stuck, Dimitra Micha, Thibaut Eguether, Abigail O. Smith, Nicole N. van der Wel, Matias Wagner, Lara Strittmatter, Philip L. Beales, Julie A. Jonassen, Isabelle Thiffault, Maxime Cadieux-Dion, Laura Boyes, Saba Sharif, Beyhan Tüysüz, Desiree Dunstheimer, Hans W M Niessen, William Devine, Cecilia W. Lo, Hannah M. Mitchison, Miriam Schmidts, and Gregory J. Pazour (Article)
Shared in Rare: Engaging Stakeholders to Develop a Shared ELSI Research Agenda Across Rare Diseases, Courtney D. Berrios, Jeremy R. Garrett, Linda Jones, Nancy Petersen, Meghan Strenk, and Rare Voices Advisory Group
Development of a Multidisciplinary Clinic for Patients with Ehlers Danlos Syndromes: Considerations and Strategies., William R. Black, Jordan T. Jones, Eric T. Rush, Lindsey Malloy-Walton, and Ashley Harding (Article)
The post-diagnostics world: charting a path for pediatric genomic medicine in the twenty-first century., Joshua L Bonkowsky, T Pastinen, and Peter White (Article)
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals., Elisabeth Bosch, Bernt Popp, Esther Güse, Cindy Skinner, Pleuntje J. van der Sluijs, Isabelle Maystadt, Anna Maria Pinto, Alessandra Renieri, Lucia Pia Bruno, Stefania Granata, Carlo Marcelis, Özlem Baysal, Dewi Hartwich, Laura Holthöfer, Bertrand Isidor, Benjamin Cogne, Dagmar Wieczorek, Valeria Capra, Marcello Scala, Patrizia De Marco, Marzia Ognibene, Rami Abou Jamra, Konrad Platzer, Lauren B. Carter, Outi Kuismin, Arie van Haeringen, Reza Maroofian, Irene Valenzuela, Ivon Cuscó, Julian A. Martinez-Agosto, Ahna M. Rabani, Heather C. Mefford, Elaine M. Pereira, Charlotte Close, Kwame Anyane-Yeboa, Mallory Wagner, Mark C. Hannibal, Pia Zacher, Isabelle Thiffault, Gea Beunders, Muhammad Umair, Priya T. Bhola, Erin McGinnis, John Millichap, Jiddeke M. van de Kamp, Eloise J. Prijoles, Amy Dobson, Amelle Shillington, Brett H. Graham, Evan-Jacob Garcia, Maureen Kelly Galindo, Fabienne G. Ropers, Esther A R Nibbeling, Gail Hubbard, Catherine Karimov, Guido Goj, Renee Bend, Julie Rath, Michelle M. Morrow, Francisca Millan, Vincenzo Salpietro, Annalaura Torella, Vincenzo Nigro, Mitja Kurki, Roger E. Stevenson, Gijs W E Santen, Markus Zweier, Philippe M. Campeau, Mariasavina Severino, André Reis, Andrea Accogli, and Georgia Vasileiou (Article)
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease., Daniel G. Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood, Alina Kurolap, Noa Zunz Henig, Jawid M. Fatih, Isabella Herman, Haowei Du, Tadahiro Mitani, Lore Becker, Birgit Rathkolb, Raffaele Gerlini, Claudia Seisenberger, Susan Marschall, Jill V. Hunter, Amanda Gerard, Alexis Heidlebaugh, Thomas Challman, Rebecca C. Spillmann, Shalini N. Jhangiani, Zeynep Coban-Akdemir, Seema Lalani, Lingxiao Liu, Anya Revah-Politi, Alejandro Iglesias, Edwin Guzman, Evan Baugh, Nathalie Boddaert, Sophie Rondeau, Clothide Ormieres, Giulia Barcia, Queenie K G Tan, Isabelle Thiffault, T Pastinen, Kazim Sheikh, Suur Biliciler, Davide Mei, Federico Melani, Vandana Shashi, Yuval Yaron, Mary Steele, Emma Wakeling, Elsebet Østergaard, Lusine Nazaryan-Petersen, Undiagnosed Diseases Network, Francisca Millan, Teresa Santiago-Sim, Julien Thevenon, Ange-Line Bruel, Christel Thauvin-Robinet, Denny Popp, Konrad Platzer, Pawel Gawlinski, Wojciech Wiszniewski, Dana Marafi, Davut Pehlivan, Jennifer E. Posey, Richard A. Gibbs, Valerie Gailus-Durner, Renzo Guerrini, Helmut Fuchs, Martin Hrabě de Angelis, Sabine M. Hölter, Hoi-Hung Cheung, Shen Gu, and James R. Lupski (Article)
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability., Daniel G. Calame, Cristina Moreno Vadillo, Seth Berger, Timothy Lotze, Marwan Shinawi, Javaher Poupak, Corina Heller, Julie Cohen, Richard Person, Aida Telegrafi, Chalongchai Phitsanuwong, Kaylene Fiala, Isabelle Thiffault, Florencia Del Viso, Dihong Zhou, Emily A. Fleming, Tomi Pastinen, Ali Fatemi, Sruthi Thomas, Samuel I. Pascual, Rosa J. Torres, Carmen Prior, Clara Gómez-González, Saskia Biskup, James R. Lupski, Dragan Maric, Miguel Holmgren, Debra Regier, and Sho T. Yano (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)
Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing., Xiao Chen, John Harting, Emily G. Farrow, Isabelle Thiffault, Dalia Kasperaviciute, Genomics England Research Consortium, Alexander Hoischen, Christian Gilissen, T Pastinen, and Michael A. Eberle (Article)
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort., Warren A. Cheung, Adam F. Johnson, William J. Rowell, Emily G. Farrow, Richard Hall, Ana S A Cohen, John C. Means, Tricia N. Zion, Daniel M. Portik, Christopher T. Saunders, Boryana Koseva, Chengpeng Bi, Tina K. Truong, Carl F. Schreck, Byunggil Yoo, Jeffrey J. Johnston, Margaret Gibson, Gilad Evrony, William B. Rizzo, Isabelle Thiffault, Scott T. Younger, Tom Curran, Aaron M. Wenger, Elin Grundberg, and T Pastinen (Article)
Pseudo-Dystonia and Marked Intrafamilial Variability in CADM3-Related Disease., Keith A. Coffman, Kendra Engleman, Elizabeth Shaffer, Tyler Allison, and Carol J. Saunders (Letter to the Editor)
Defining genetic diversity of rhesus macaque Fcγ receptors with long-read RNA sequencing., Haleigh E. Conley, Max M. He, David Easterhoff, Hélène Fradin Kirshner, Sarah L. Cocklin, Jacob Meyer, Taylor Hoxie, Madison Berry, Todd Bradley, William D. Tolbert, Marzena Pazgier, Georgia D. Tomaras, Joern E. Schmitz, Michael Anthony Moody, Kevin Wiehe, and Justin Pollara (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)
Host immunity associated with spontaneous suppression of viremia in therapy-naïve young rhesus macaques following neonatal SHIV infection., Tyler D. Evangelous, Madison Berry, Sravani Venkatayogi, Cas LeMaster, Eric S. Geanes, Nicole De Naeyer, Todd DeMarco, Xiaoying Shen, Hui Li, Bhavna Hora, Nicholas Solomonis, Johnathan Misamore, Mark G. Lewis, Thomas N. Denny, David Montefiori, George M. Shaw, Kevin Wiehe, Todd Bradley, and Wilton B. Williams (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)
Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq., Emily G. Farrow, Allison Jay, John C. Means, Scott T. Younger, Rebecca L. Biswell, Boryana Koseva, Isabelle Thiffault, T Pastinen, Kara Pappas, and Helga Toriello (Article)
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)
Adverse Maternal Environments Perturb Hepatic DNA Methylome and Transcriptome Prior to the Adult-Onset Non-Alcoholic Fatty Liver Disease in Mouse Offspring, Qi Fu, Warren A. Cheung, Amber V. Majnik, Xingrao Ke, T Pastinen, and Robert H. Lane (Article)
Clinical utility of whole-genome DNA methylation profiling as a primary molecular diagnostic assay for central nervous system tumors-A prospective study and guidelines for clinical testing., Kristyn Galbraith, Varshini Vasudevaraja, Jonathan Serrano, Guomiao Shen, Ivy Tran, Nancy Abdallat, Mandisa Wen, Seema Patel, Misha Movahed-Ezazi, Arline Faustin, Marissa Spino-Keeton, Leah Geiser Roberts, Ekrem Maloku, Steven A. Drexler, Benjamin L. Liechty, David Pisapia, Olga Krasnozhen-Ratush, Marc Rosenblum, Seema Shroff, Daniel R. Boué, Christian Davidson, Qinwen Mao, Mariko Suchi, Paula North, Amanda Hopp, Annette Segura, Jason A. Jarzembowski, Lauren Parsons, Mahlon D. Johnson, Bret Mobley, Wesley Samore, Declan McGuone, Pallavi P. Gopal, Peter D. Canoll, Craig Horbinski, Joseph M. Fullmer, Midhat S. Farooqi, Murat Gokden, Nitin R. Wadhwani, Timothy E. Richardson, Melissa Umphlett, Nadejda M. Tsankova, John C. DeWitt, Chandra Sen, Dimitris G. Placantonakis, Donato Pacione, Jeffrey H. Wisoff, Eveline Teresa Hidalgo, David Harter, Christopher M. William, Christine Cordova, Sylvia C. Kurz, Marissa Barbaro, Daniel A. Orringer, Matthias A. Karajannis, Erik P. Sulman, Sharon L. Gardner, David Zagzag, Aristotelis Tsirigos, Jeffrey C. Allen, John G. Golfinos, and Matija Snuderl (Article)
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays., Mythily Ganapathi, Leticia S. Matsuoka, Michael March, Dong Li, Elly Brokamp, Sara Benito-Sanz, Susan M. White, Katherine Lachlan, Priyanka Ahimaz, Anshuman Sewda, Lisa Bastarache, Amanda Thomas-Wilson, Joan M. Stoler, Nuria C. Bramswig, Julia Baptista, Karen Stals, Florence Demurger, Benjamin Cogne, Bertrand Isidor, Maria Francesca Bedeschi, Angela Peron, Jeanne Amiel, Elaine Zackai, John P. Schacht, Alejandro D. Iglesias, Jenny Morton, Ariane Schmetz, Undiagnosed Diseases Network, Verónica Seidel, Stephanie Lucia, Stephanie M. Baskin, Isabelle Thiffault, Joy D. Cogan, Christopher T. Gordon, Wendy K. Chung, Sarah Bowdin, and Elizabeth Bhoj (Article)
Blocking Respiratory Syncytial Virus infection utilizing decoy cell surface receptor proteins, Eric S. Geanes, Rebecca McLennan, Oishi Paul, Santosh Khanal, and Todd Bradley
Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism., Neelam Hassan, Celia L. Gregson, Haotian Tang, Marc van der Kamp, Paul Leo, Aideen M McInerney-Leo, Jie Zheng, Maria Luisa Brandi, Jonathan C Y Tang, William Fraser, Michael D. Stone, Elin Grundberg, Anglo-Australasian Genetics Consortium, Matthew A. Brown, Emma L. Duncan, and Jonathan H. Tobias (Article)
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype., Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E Christopher Partridge, Fatima E. Abidi, Ashlyn Anderson, Muhammad Ansar, Stylianos E. Antonarakis, Azadeh Azadi, Ruxandra Bachmann-Gagescu, Andrea Bartuli, Caroline Benech, Jennifer L. Berkowitz, Michael J. Betti, Alfredo Brusco, Ashley Cannon, Giulia Caron, Yanmin Chen, Meagan E. Cochran, Tanner F. Coleman, Molly M. Crenshaw, Laurence Cuisset, Cynthia J. Curry, Hossein Darvish, Serwet Demirdas, Maria Descartes, Jessica Douglas, David A. Dyment, Houda Zghal Elloumi, Giuseppe Ermondi, Marie Faoucher, Emily G. Farrow, Stephanie A. Felker, Heather Fisher, Anna C E Hurst, Pascal Joset, Melissa A. Kelly, Stanislav Kmoch, Benjamin R. Leadem, Michael J. Lyons, Marina Macchiaiolo, Martin Magner, Giorgia Mandrile, Francesca Mattioli, Megan McEown, Sarah K. Meadows, Livija Medne, Naomi J L Meeks, Sarah Montgomery, Melanie P. Napier, Marvin Natowicz, Kimberly M. Newberry, Marcello Niceta, Lenka Noskova, Catherine B. Nowak, Amanda G. Noyes, Matthew Osmond, Eloise J. Prijoles, Jada Pugh, Verdiana Pullano, Chloé Quélin, Simin Rahimi-Aliabadi, Anita Rauch, Sylvia Redon, Alexandre Reymond, Caitlin Schwager, Elizabeth A. Sellars, Angela E. Scheuerle, Elena Shukarova-Angelovska, Cara Skraban, Elliot Stolerman, Bonnie Sullivan, Marco Tartaglia, Isabelle Thiffault, Kevin Uguen, Luis A. Umaña, Yolande van Bever, Saskia N. van der Crabben, Marjon A. van Slegtenhorst, Quinten Waisfisz, Camerun Washington, Lance H. Rodan, Richard M. Myers, and Gregory M. Cooper (Article)
A Metabolic, Mechanical, Multi-Organ Masterpiece: Dural Device Support Bridge to En-Bloc Heart-Liver Transplantation in Propionic Acidemia, Rebecca Juhl, Brian Birnbaum, Aliessa P. Barnes, William Gibson, Bhargava Mullapudi, Beth Lang, Megan Faseler, Daniel E. Heble, Victoria Urban, Ryan T. Fischer, Jennifer L. Gannon, and David Sutcliffe (Poster)
Committing to genomic answers for all kids: Evaluating inequity in genomic research enrollment., Natalie J. Kane, Ana S A Cohen, Courtney D. Berrios, Bridgette Jones, T Pastinen, and Mark A. Hoffman (Article)
Cell-type profiling of the sympathetic nervous system using spatial transcriptomics and spatial mapping of mRNA., Jennifer C. Kasemeier-Kulesa, Jason A. Morrison, Sean McKinney, Hua Li, Madelaine Gogol, Kate Hall, Shiyuan Chen, Yongfu Wang, Anoja Perera, Rebecca McLennan, and Paul M. Kulesa (Article)
X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems, Caroline M. Kolvenbach, Tim Felger, Luca Schierbaum, Isabelle Thiffault, T Pastinen, Maria Szczepańska, Marcin Zaniew, Piotr Adamczyk, Allan Bayat, Öznur Yilmaz, Tobias T. Lindenberg, Holger Thiele, Friedhelm Hildebrandt, Katrin Hinderhofer, Ute Moog, Alina C Hilger, Bonnie Sullivan, Lauren E. Bartik, Piotr Gnyś, Phillip Grote, Benjamin Odermatt, Heiko M. Reutter, and Gabriel C. Dworschak (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)
DNA Methylation of Birthweight-Blood Pressure Genes and Changes of Blood Pressure in Response to Weight-Loss Diets in the POUNDS Lost Trial., Minghao Kou, Xiang Li, Xiaojian Shao, Elin Grundberg, Xuan Wang, Hao Ma, Yoriko Heianza, J Alfredo Martinez, George A. Bray, Frank M. Sacks, and Lu Qi (Article)
Single-Cell Transcriptomics of Mtb/HIV Co-Infection, Smita Kulkarni, Janice J. Endsley, Zhao Lai, Todd Bradley, and Riti Sharan (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)
