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 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)
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)
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)
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)
The cellular and immunological dynamics of early and transitional human milk., Cas LeMaster, Stephen Pierce, Eric S. Geanes, Santosh Khanal, Staci S. Elliott, Allison Scott, Daniel A. Louiselle, Rebecca McLennan, Devika Maulik, Tamorah Lewis, T Pastinen, and Todd Bradley (Article)
Clinical Course of a Patient With Agammaglobulinemia Caused by SLC39A7 defect, Thao Le, Emily Farrow, Alvin Singh, Isabelle Thiffault, and Nikita Raje (Poster)
Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta., Winnie Liu, Brendan Lee, Sandesh C S Nagamani, Lindsey Nicol, Frank Rauch, Eric T. Rush, V Reid Sutton, and Eric Orwoll (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)
DNA Methylation Near CPT1A and Changes in Triglyceride-rich Lipoproteins in Response to Weight-loss Diet Interventions., Xiang Li, Xiaojian Shao, Qiaochu Xue, Minghao Kou, Catherine M. Champagne, Boryana Koseva, Yoriko Heianza, Elin Grundberg, Lydia A. Bazzano, George A. Bray, Frank M. Sacks, and Lu Qi (Article)
Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report, Julia Macintosh, Stefanie Perrier, Maxime Pinard, Luan T. Tran, Kether Guerrero, Chitra Prasad, Asuri N. Prasad, T Pastinen, Isabelle Thiffault, Benoit Coulombe, and Geneviève Bernard (Article)
A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy, Julia Macintosh, Isabelle Thiffault, Tomi Pastinen, László Sztriha, and Geneviève Bernard (Article)
High-throughput identification of deep intronic splice-disrupting variants using a massively parallel minigene splicing assay, Anabel Lee Martinez Bengochea, John C. Means, and Scott T. Younger
Early milk feeding impacts health and immunity in later life, Rebecca McLennan, Eric S. Geanes, Angela Dickerson, and Todd Bradley
A novel and comprehensive testing strategy to identify the genetic etiology of neonatal hypotonia phenotypes, Jasmine A. McQuerry, Margaret Gibson, Scott T. Younger, T Pastinen, and Emily G. Farrow
Rapid and scalable preclinical evaluation of personalized antisense oligonucleotides using organoids derived from rare disease patients, John C. Means, Daniel A. Louiselle, Boryana Koseva, T Pastinen, and Scott T. Younger
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C, Amytice Mirchi, Simon-Pierre Guay, Luan T. Tran, Nicole I. Wolf, Adeline Vanderver, Bernard Brais, Michel Sylvain, Daniela Pohl, Elsa Rossignol, Michael Saito, Sebastien Moutton, Luis González-Gutiérrez-Solana, Isabelle Thiffault, Michael C. Kruer, Dolores Gonzales Moron, Marcelo Kauffman, Cyril Goizet, László Sztriha, Emma Glamuzina, Serge B. Melançon, Sakkubai Naidu, Jean-Marc Retrouvey, Suzanne Lacombe, Beatriz Bernardino-Cuesta, Isabelle De Bie, and Geneviève Bernard (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)
Leveraging osteoclast genetic regulatory data to identify genes with a role in osteoarthritis., Benjamin H. Mullin, Kun Zhu, Suzanne J. Brown, Shelby Mullin, Frank Dudbridge, Nathan J. Pavlos, J Brent Richards, Elin Grundberg, Jordana T. Bell, Eleftheria Zeggini, John P. Walsh, Jiake Xu, and Scott G. Wilson (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
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder., Eva Niggl, Arjan Bouman, Lauren C. Briere, Remco M. Hoogenboezem, Ilse Wallaard, Joohyun Park, Jakob Admard, Martina Wilke, Emilio D R O Harris-Mostert, Minetta Elgersma, Jennifer Bain, Meena Balasubramanian, Siddharth Banka, Paul J. Benke, Miriam Bertrand, Alyssa E. Blesson, Jill Clayton-Smith, Jamie M. Ellingford, Madelyn A. Gillentine, Dana H. Goodloe, Tobias B. Haack, Mahim Jain, Ian Krantz, Sharon M. Luu, Molly McPheron, Candace L. Muss, Sarah E. Raible, Nathaniel H. Robin, Michael Spiller, Susan Starling, David A. Sweetser, Isabelle Thiffault, Francesco Vetrini, Dennis Witt, Emily Woods, Dihong Zhou, Genomics England Research Consortium, Undiagnosed Diseases Network;, Ype Elgersma, and Annelot C M van Esbroeck (Article)
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)
SARS-CoV-2 Envelope Protein Tolerizes Macrophage Response to Secondary Inflammatory Stimuli, Stephen Pierce, Rebecca McLennan, Santosh Khanal, Heather Menden, Venkatesh Sampath, and Todd Bradley
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature., Ana Potic, Stefanie Perrier, Tijana Radovic, Svetlana Gavrilovic, Jelena Ostojic, Luan T. Tran, Isabelle Thiffault, Tomi Pastinen, Raphael Schiffmann, and Geneviève Bernard (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)
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)
Impact of crowding on the diversity of expanding populations., Carl F. Schreck, Diana Fusco, Yuya Karita, Stephen Martis, Jona Kayser, Marie-Cécilia Duvernoy, and Oskar Hallatschek (Article)
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies., Kelly Smallwood, Kristin E N Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Katherine Inskeep, Corrine Capannari, Margaret P. Adam, Amber Begtrup, Debora R. Bertola, Laurie Demmer, Erin Demo, Orrin Devinsky, Emily R. Gallagher, Maria J. Guillen Sacoto, Robert Jech, Boris Keren, Jennifer Kussman, Roger Ladda, Lisa A. Lansdon, Sebastian Lunke, Anne Mardy, Kirsty McWalters, Richard Person, Laura Raiti, Noriko Saitoh, Carol J. Saunders, Rhonda Schnur, Matej Skorvanek, Susan L. Sell, Anne Slavotinek, Bonnie Sullivan, Zornitza Stark, Joseph D. Symonds, Tara Wenger, Sacha Weber, Sandra Whalen, Susan M. White, Juliane Winkelmann, Michael Zech, Shimriet Zeidler, Kazuhiro Maeshima, Rolf W. Stottmann, Paul A. Trainor, and K Nicole Weaver (Article)
Small Intestinal Polyp Burden in Pediatric Peutz-Jeghers Syndrome Assessed through Capsule Endoscopy: A Longitudinal Study., Jeremy Stewart, Nathan R. Fleishman, Vincent S. Staggs, Mike Thomson, Nicole Stoecklein, Caitlin E. Lawson, Michael P. Washburn, Shahid Umar, and Thomas M. Attard (Article)
Addressing the Burdens That Newborn Screening Imposes on Underserved Communities., Meghan Strenk, Courtney D. Berrios, and Jeremy R. Garrett (Response or Comment)
Stem Like T Cells in Anti-cancer Immunosurveillance Against Therapy-resistant Pediatric Cancer, Fang Tao, Sara McElroy, Jacqelyn Nemechek, Irina Pushel, Santosh Khanal, John Szarejko, Todd Bradley, Douglas Myers, and John M. Perry
IRF7 and UNC93B1 variants in an infant with recurrent herpes simplex virus infection., Megan H. Tucker, Wei Yu, Heather Menden, Sheng Xia, Carl F. Schreck, Margaret Gibson, Daniel A. Louiselle, T Pastinen, Nikita Raje, and Venkatesh Sampath (Article)
A Genomics Driven Pluripotent Stem Cell Model of Infant Acute Lymphoblastic Leukemia, Meagan Vacek, Jacqelyn Nemechek, Julia Draper, Irina Pushel, Bradley Thornton, Molly Leyda, Priyanka Prem Kumar, Midhat S. Farooqi, Jay L. Vivian, Erin M. Guest, and John M. Perry (Poster)
Extravillous trophoblast cell lineage development is associated with active remodeling of the chromatin landscape., Kaela M. Varberg, Esteban M. Dominguez, Boryana Koseva, Joseph M. Varberg, Ross P. McNally, Ayelen Moreno-Irusta, Emily R. Wesley, Khursheed Iqbal, Warren A. Cheung, Carl F. Schreck, Craig Smail, Hiroaki Okae, Takahiro Arima, Michael Lydic, Kristin Holoch, Courtney Marsh, Michael J. Soares, and Elin Grundberg (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)
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families., Monica H. Wojcik, Siddharth Srivastava, Pankaj B. Agrawal, Tugce B. Balci, Bert Callewaert, Pier Luigi Calvo, Diana Carli, Michelle Caudle, Samantha Colaiacovo, Laura A. Cross, Kalliope Demetriou, Katy Drazba, Marina Dutra-Clarke, Matthew Edwards, Casie A. Genetti, Dorothy K. Grange, Scott E. Hickey, Bertrand Isidor, Sébastien Küry, Herbert M. Lachman, Alinoe Lavillaureix, Michael J. Lyons, Carlo Marcelis, Elysa J. Marco, Julian A. Martinez-Agosto, Catherine Nowak, Antonio Pizzol, Marc Planes, Eloise J. Prijoles, Evelise Riberi, Eric T. Rush, Bianca E. Russell, Rani Sachdev, Betsy Schmalz, Deborah Shears, David A. Stevenson, Kate Wilson, Sandra Jansen, Bert B A de Vries, and Cynthia J. Curry (Article)
Neonatal hyperoxia induces activated pulmonary cellular states and sex-dependent transcriptomic changes in a model of experimental bronchopulmonary dysplasia., Sheng Xia, Lisandra Vila Ellis, Konner Winkley, Heather Menden, Sherry M. Mabry, Aparna Venkatraman, Daniel A. Louiselle, Margaret Gibson, Elin Grundberg, Jichao Chen, and Venkatesh Sampath (Article)
Interaction between Crk and β-III spectrin during brain development and neurodegeneration, Shufei Zhuang, Jay L. Vivian, David K. Johnson, Lance Rodan, Tom Curran, and Taeju Park
Insurance denials and diagnostic rates in a pediatric genomic research cohort., Tricia N. Zion, Courtney D. Berrios, Ana S A Cohen, Lauren E. Bartik, Laura A. Cross, Kendra Engleman, Emily A. Fleming, Randi N. Gadea, Susan S. Hughes, Janda L. Jenkins, Jennifer Kussmann, Caitlin E. Lawson, Caitlin Schwager, Meghan Strenk, Holly Welsh, Eric T. Rush, Shivarajan Manickavasagam Amudhavalli, Bonnie Sullivan, Dihong Zhou, Jennifer L. Gannon, Bryce Heese, Riley Moore, Emelia Boillat, Rebecca L. Biswell, Daniel A. Louiselle, Laura M B Puckett, Shanna Beyer, Shelby H H. Neal, Victoria Sierant, Macy McBeth, Bradley Belden, Adam Walter, Margaret Gibson, Warren A. Cheung, Jeffrey J. Johnston, Isabelle Thiffault, Emily G. Farrow, Elin Grundberg, and T Pastinen (Article)
Works from 2022
EPHB4 Mutation Suppresses PROX1 Expression and Disrupts Lymphatic Development in Neonatal Hydrops., Gangaram Akangire, Heather Menden, Sheng Xia, Isabelle Thiffault, Atif Ahmed, and Venkatesh Sampath (Article)
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome., Matthew N. Bainbridge, Aloran Mazumder, Daisuke Ogasawara, Rami Abou Jamra, Geneviève Bernard, Enrico Bertini, Lydie Burglen, Heidi Cope, Ali Crawford, Alexa Derksen, Leon Dure, Emily Gantz, Margarete Koch-Hogrebe, Anna C E Hurst, Sonal Mahida, Paige Marshall, Alessia Micalizzi, Antonio Novelli, Hongfan Peng, Rady Children's Institute for Genomic Medicine, Diana Rodriguez, Shira L. Robbins, S Lane Rutledge, Roberta Scalise, Sophia Schließke, Vandana Shashi, Siddharth Srivastava, Isabelle Thiffault, Sarah Topol, Undiagnosed Disease Network, Leila Qebibo, Dagmar Wieczorek, Benjamin Cravatt, Svasti Haricharan, Ali Torkamani, and Jennifer Friedman (Article)
PPP2R1A neurodevelopmental disorder is associated with congenital heart defects., Elizabeth K. Baker, Beulah Solivio, Ben Pode-Shakked, Laura A. Cross, Bonnie Sullivan, Annick Raas-Rothschild, Odelia Chorin, Ortal Barel, Omer Bar-Yosef, Ammar Husami, Robert J. Hopkin, Carlos E. Prada, Rolf W. Stottmann, and Kathryn Nicole Weaver (Article)
22q11.2 duplications: Expanding the clinical presentation., Lauren E. Bartik, Susan Starling Hughes, Meghan Tracy, Matthew M. Feldt, Lei Zhang, Jill M. Arganbright, and Alison Kaye (Article)
Identifying Needs, Challenges, and Benefits Among Adults and Parents of Children With Hirschsprung Disease., Courtney D. Berrios, Juli Bollinger, Jia Yan, Barbara Biesecker, and Aravinda Chakravarti (Article)
Parental understanding and attitudes following pharmacogenomic testing for pediatric neuropsychiatric patients., Courtney D. Berrios, Sophia K. Sadaro, Tracy L. Sandritter, Jennifer A. Wagner, Sarah E. Soden, Benjamin Black, and Susan Abdel-Rahman (Article)
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum., Ange-Line Bruel, Antonio Vitobello, Isabelle Thiffault, Linda Manwaring, Marcia Willing, Pankaj B. Agrawal, Allan Bayat, Thomas M. Kitzler, Catherine A. Brownstein, Casie A. Genetti, Joseph Gonzalez-Heydrich, Parul Jayakar, Jacob W. Zyskind, Zehua Zhu, Clemence Vachet, Gena R. Wilson, Brianna Pruniski, Anne-Marie Goyette, Yannis Duffourd, Christel Thauvin-Robinet, Christophe Philippe, and Laurence Faivre (Article)
Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series., Maxime Cadieux-Dion, Emily G. Farrow, Isabelle Thiffault, Ana S A Cohen, Holly Welsh, Lauren E. Bartik, Caitlin Schwager, Kendra Engleman, Dihong Zhou, Lei Zhang, Elena Repnikova, Shivarajan Manickavasagam Amudhavalli, and Carol J. Saunders (Article)
Adipose methylome integrative-omic analyses reveal genetic and dietary metabolic health drivers and insulin resistance classifiers., Colette Christiansen, Max Tomlinson, Melissa Eliot, Emma Nilsson, Ricardo Costeira, Yujing Xia, Sergio Villicaña, Olatz Mompeo, Philippa Wells, Juan Castillo-Fernandez, Louis Potier, Marie-Claude Vohl, Andre Tchernof, Julia El-Sayed Moustafa, Cristina Menni, Claire J. Steves, Karl Kelsey, Charlotte Ling, Elin Grundberg, Kerrin S. Small, and Jordana T. Bell (Article)
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes., Ana S A Cohen, Emily G. Farrow, Ahmed Abdelmoity, Joseph Alaimo, Shivarajan Manickavasagam Amudhavalli, John Anderson, Lalit R. Bansal, Lauren E. Bartik, Primo Baybayan, Bradley Belden, Courtney D. Berrios, Rebecca L. Biswell, Pawel Buczkowicz, Orion Buske, Shreyasee Chakraborty, Warren A. Cheung, Keith A. Coffman, Ashley M. Cooper, Laura A. Cross, Tom Curran, Thuy Tien T. Dang, Mary M. Elfrink, Kendra Engleman, Erin Day Fecske, Cynthia Fieser, Keely M. Fitzgerald, Emily Fleming, Randi N. Gadea, Jennifer L. Gannon, Rose N. Gelineau-Morel, Margaret Gibson, Jeffrey Goldstein, Elin Grundberg, Kelsee Halpin, Brian S. Harvey, Bryce Heese, Wendy Hein, Suzanne M. Herd, Susan Starling Hughes, Mohammed Ilyas, Jill Jacobson, Janda L. Jenkins, Shao Jiang, Jeffrey J. Johnston, Kathryn Keeler, Jonas Korlach, Jennifer Kussman, Christine Lambert, Caitlin E. Lawson, Jean-Baptist LePichon, J Steven Leeder, Vicki C. Little, Daniel A. Louiselle, Michael Lypka, Brittany D. McDonald, Neil Miller, Ann Modrcin, Annapoorna Nair, Shelby H. Neal, Christopher M. Oermann, Donna M. Pacicca, Kailash Pawar, Nyshele L. Posey, Nigel Price, Laura M B Puckett, Julio Quezada, Nikita Raje, William J. Rowell, Eric T. Rush, Venkatesh Sampath, Carol J. Saunders, Caitlin Schwager, Richard M. Schwend, Elizabeth Shaffer, Craig Smail, Sarah E. Soden, Meghan Strenk, Bonnie Sullivan, Brooke Sweeney, Jade B. Tam-Williams, Adam Walter, Holly Welsh, Aaron M. Wenger, Laurel K. Willig, Yun Yan, Scott T. Younger, Dihong Zhou, Tricia N. Zion, Isabelle Thiffault, and Tomi Pastinen (Article)
MicroRNA Content of Ewing Sarcoma Derived Extracellular Vesicles Leads to Biomarker Potential and Identification of a Previously Undocumented EWS-FLI1 Translocation., Jennifer Crow, Glenson Samuel, Emily G. Farrow, Margaret Gibson, Jeffrey J. Johnston, Erin M. Guest, Neil Miller, Dong Pei, Devin Koestler, Harsh Pathak, Xiaobo Liang, Cooper Mangels, and Andrew K. Godwin (Article)
Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy., Michelle C. do Rosario, Guillermo Rodriguez Bey, Bruce Nmezi, Fang Liu, Talia Oranburg, Ana S A Cohen, Keith A. Coffman, Maya R. Brown, Kirill Kiselyov, Quinten Waisfisz, Myrthe T. Flohil, Shahyan Siddiqui, Jill A. Rosenfeld, Alejandro Iglesias, Katta Mohan Girisha, Nicole I. Wolf, Quasar Saleem Padiath, and Anju Shukla (Article)
Novel Oncogenic PDGFRB Variant in Severe Infantile Myofibromatosis With Response to Imatinib Using Therapeutic Drug Monitoring, Abbey Elsbernd, Boutaina Boulouadnine, Atif Ahmed, Midhat S. Farooqi, Tracy L. Sandritter, Valentina Shakhnovich, Darius Blanding, Jean-Baptiste Demoulin, and Joel Thompson (Article)
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency., James Fasham, Siying Lin, Promita Ghosh, Francesca Clementina Radio, Emily G. Farrow, Isabelle Thiffault, Jennifer Kussman, Dihong Zhou, Rick Hemming, Kenneth Zahka, Barry A. Chioza, Lettie E. Rawlins, Olivia K. Wenger, Adam C. Gunning, Simone Pizzi, Roberta Onesimo, Giuseppe Zampino, Emily Barker, Natasha Osawa, Megan Christine Rodriguez, Teresa M. Neuhann, Elaine H. Zackai, Beth Keena, Jenina Capasso, Alex V. Levin, Elizabeth Bhoj, Dong Li, Hakon Hakonarson, Ingrid M. Wentzensen, Adam Jackson, Kate E. Chandler, Zeynep H. Coban-Akdemir, Jennifer E. Posey, Siddharth Banka, James R. Lupski, Sarah E. Sheppard, Marco Tartaglia, Barbara Triggs-Raine, Andrew H. Crosby, and Emma L. Baple (Article)
Effects of Prior Infection with SARS-CoV-2 on B Cell Receptor Repertoire Response during Vaccination., Elizabeth Fraley, Santosh Khanal, Stephen Pierce, Cas LeMaster, Rebecca McLennan, Tomi Pastinen, and Todd Bradley (Article)
CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project., Andrea Gaedigk, Erin C. Boone, Steven E. Scherer, Seung-Been Lee, Ibrahim Numanagić, Cenk Sahinalp, Joshua D. Smith, Sean McGee, Aparna Radhakrishnan, Xiang Qin, Wendy Y. Wang, Emily G. Farrow, Nina Gonzaludo, Aaron L. Halpern, Deborah A. Nickerson, Neil A. Miller, Victoria M. Pratt, and Lisa V. Kalman (Article)
Development of combinatorial antibody therapies for diffuse large B cell lymphoma., Eric S. Geanes, Stacey A. Krepel, Rebecca McLennan, Stephen Pierce, Santosh Khanal, and Todd Bradley (Article)
Cross-reactive antibodies elicited to conserved epitopes on SARS-CoV-2 spike protein after infection and vaccination., Eric S. Geanes, Cas LeMaster, Elizabeth Fraley, Santosh Khanal, Rebecca McLennan, Elin Grundberg, Rangaraj Selvarangan, and Todd Bradley (Article)
Differences Between Autoantibodies Induced By Sars-Cov-2 Infection And Pfizer-Biontech Sars-Cov-2 Vaccination, Eric S. Geanes, Cas LeMaster, Elizabeth Fraley, Rebecca McLennan, Elin Grundberg, Rangaraj Selvarangan, and Todd Bradley
HLA-B*07:02 and HLA-C*07:02 are associated with trimethoprim-sulfamethoxazole respiratory failure., Jennifer Goldman, Jenna Miller, Neil Miller, Robert Eveleigh, Andrew Gibson, Elizabeth J. Phillips, and T Pastinen (Article)
Natural killer cells in liver transplantation: Can we harness the power of the immune checkpoint to promote tolerance?, Jennifer Halma, Stephen Pierce, Rebecca McLennan, Todd Bradley, and Ryan T. Fischer (Article)
TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay., Jennifer Hanson, Daniel Brezavar, Susan Starling Hughes, Shivarajan Manickavasagam Amudhavalli, Emily Fleming, Dihong Zhou, Joseph Alaimo, and Penelope E. Bonnen (Article)
Pediatric growth patterns in youth-onset type 2 diabetes mellitus: Implications for physiologically-based pharmacokinetic models., Chelsea M. Hosey, Kelsee Halpin, Valentina Shakhnovich, Chengpeng Bi, Brooke Sweeney, Yun Yan, and J Steven Leeder (Article)
Gender dysphoria in adolescents with Ehlers-Danlos syndrome., Jordan T. Jones, William R. Black, Christine Moser, Eric T. Rush, and Lindsey Malloy-Walton (Article)
Diffuse Large B-Cell Lymphoma Risk Score Calculator: A Tool To Accurately Predict Survival Risk And Improve Treatment Decisions And Outcomes, Santosh Khanal, Arjun Gampala, Eric S. Geanes, Anne T. Culpepper, Liubomyr Buryi, Catherine A. Jackson, Rebecca McLennan, and Todd Bradley
Genetic associations at regulatory phenotypes improve fine-mapping of causal variants for 12 immune-mediated diseases., Kousik Kundu, Manuel Tardaguila, Alice L. Mann, Stephen Watt, Hannes Ponstingl, Louella Vasquez, Dominique Von Schiller, Nicholas W. Morrell, Oliver Stegle, T Pastinen, Stephen J. Sawcer, Carl A. Anderson, Klaudia Walter, and Nicole Soranzo (Article)
Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies., Lisa A. Lansdon, Maxime Cadieux-Dion, John Herriges, Jeffrey J. Johnston, Byunggil Yoo, Joseph Alaimo, Isabelle Thiffault, Neil Miller, Ana S A Cohen, Elena Repnikova, Lei Zhang, Midhat S. Farooqi, Emily G. Farrow, and Carol J. Saunders (Article)
Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype., Simon Lebaron, Marie-Françoise O'Donohue, Scott C. Smith, Kendra Engleman, Jane Juusola, Nicole P. Safina, Isabelle Thiffault, Carol J. Saunders, and Pierre-Emmanuel Gleizes (Article)
Vaccination after SARS-CoV-2 infection increased antibody avidity against the Omicron variant compared to vaccination alone., Cas LeMaster, Eric S. Geanes, Elizabeth Fraley, Rangaraj Selvarangan, and Todd Bradley (Article)
Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration., Julia Macintosh, Alexa Derksen, Chantal Poulin, Nancy Braverman, Adeline Vanderver, Isabelle Thiffault, Steffen Albrecht, and Geneviève Bernard (Article)
Diagnostic outcomes from a combined Pediatric Dermatology-Genetics clinic., Maeve C. Maher, Amy J. Nopper, Brandon D. Newell, Emily Fleming, Jennifer L. Gannon, Dihong Zhou, and Kimberly A. Horii (Article)
Large-scale analysis of circulating glutamate and adipose gene expression in relation to abdominal obesity., Ina Maltais-Payette, Jinchu Vijay, Marie-Michelle Simon, Jacques Corbeil, Francis Brière, Elin Grundberg, and André Tchernof (Article)
Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients., Jasmine A. McQuerry, Merry Mclaird, Samantha N. Hartin, John C. Means, Jeffrey J. Johnston, T Pastinen, and Scott T. Younger (Article)
A Rare Case of Suspected Generalized Arterial Calcification of Infancy (GACI) in An Infant Presenting with Respiratory Failure in An Infant Presenting with Respiratory Failure and Arterial Calcification, Lilah Melzer, Catharine Kral, Bonnie Sullivan, Eric T. Rush, and Erin Khan (Poster)
