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
X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline., Dalal S. Ali, Thomas O. Carpenter, Erik A. Imel, Leanne M. Ward, Natasha M. Appelman-Dijkstra, Catherine Chaussain, Suzanne M. Jan de Beur, Pablo Florenzano, Hajar Abu Alrob, Rana Aldabagh, R Todd Alexander, Farah Alsarraf, Signe Sparre Beck-Nielsen, Martin Biosse-Duplan, Rachel K. Crowley, Karel Dandurand, Guido Filler, Lisa Friedlander, Seiji Fukumoto, Claudia Gagnon, Paul Goodyer, Corinna Grasemann, Chelsey Grimbly, Salma Hussein, Muhammad K. Javaid, Sarah Khan, Aneal Khan, Anna Lehman, Willem F. Lems, E Michael Lewiecki, Ciara McDonnell, Reza D. Mirza, Emmett Morgante, Archibald Morrison, Anthony A. Portale, Christina Rao, Yumie Rhee, Eric T. Rush, Heide Siggelkow, Sotirios Tetradis, Laura Tosi, Gordon Guyatt, Maria Luisa Brandi, and Aliya A. Khan (Article)
Transition of care in pediatric hereditary polyposis: the why, how and to whom., Thomas M. Attard, Ajay Bansal, Caitlin E. Lawson, Nicole Stoecklein, and Michele H. Maddux (Article)
Black community member perceptions and ethics recommendations on epigenomic research., Courtney D. Berrios, Tammy Basey, Andrea Bradley-Ewing, Stacey Daniels-Young, Daysha Lewis, Keith Feldman, Mary Moffatt, Tomi Pastinen, and Elin Grundberg (Article)
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder., Patrick R. Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C. Herkert, Tuula Rinne, Isabelle Thiffault, Michele Rapp, Mariel Alders, Saskia Maas, Bénédicte Gerard, Thomas Smol, Catherine Vincent-Delorme, Benjamin Cogné, Bertrand Isidor, Marie Vincent, Ruxandra Bachmann-Gagescu, Anita Rauch, Pascal Joset, Giovanni Battista Ferrero, Andrea Ciolfi, Thomas Husson, Anne-Marie Guerrot, Carlos Bacino, Colleen Macmurdo, Stephanie S. Thompson, Jill A. Rosenfeld, Laurence Faivre, Frederic Tran Mau-Them, Wallid Deb, Virginie Vignard, Pankaj B. Agrawal, Jill A. Madden, Alice Goldenberg, François Lecoquierre, Michael Zech, Holger Prokisch, Ján Necpál, Robert Jech, Juliane Winkelmann, Monika Turčanová Koprušáková, Vassiliki Konstantopoulou, John R. Younce, Marwan Shinawi, Chloe Mighton, Charlotte Fung, Chantal F. Morel, Jordan Lerner-Ellis, Stephanie DiTroia, Magalie Barth, Dominique Bonneau, Ingrid Krapels, Alexander P A Stegmann, Vyne van der Schoot, Theresa Brunet, Cornelia Bußmann, Cyril Mignot, Giuseppe Zampino, Saskia B. Wortmann, Johannes A. Mayr, René G. Feichtinger, Thomas Courtin, Claudia Ravelli, Boris Keren, Alban Ziegler, Linda Hasadsri, Pavel N. Pichurin, Eric W. Klee, Katheryn Grand, Pedro A. Sanchez-Lara, Elke Krüger, Stéphane Bézieau, Hannah Klinkhammer, Peter Michael Krawitz, Evan E. Eichler, Marco Tartaglia, Sébastien Küry, and Tianyun Wang (Article)
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders., Elisa Cali, Tania Quirin, Clarissa Rocca, Stephanie Efthymiou, Antonella Riva, Dana Marafi, Maha S. Zaki, Mohnish Suri, Roberto Dominguez, Hasnaa M. Elbendary, Shahryar Alavi, Mohamed S. Abdel-Hamid, Heba Morsy, Frederic Tran Mau-Them, Mathilde Nizon, Pavel Tesner, Lukáš Ryba, Faisal Zafar, Nuzhat Rana, Nebal W. Saadi, Zahra Firoozfar, Pinar Gencpinar, Bulent Unay, Canan Ustun, Ange-Line Bruel, Christine Coubes, Jennifer Stefanich, Ozlem Sezer, Emanuele Agolini, Antonio Novelli, Gessica Vasco, Donatella Lettori, Mathieu Milh, Laurent Villard, Shimriet Zeidler, Henry Opperman, Vincent Strehlow, Mahmoud Y Issa, Hebatallah El Khassab, Prem Chand, Shahnaz Ibrahim, Ali Rashidi-Nezhad, Mohammad Miryounesi, Pegah Larki, Jennifer Morrison, Ingrid Cristian, Isabelle Thiffault, Nicole L. Bertsch, Grace J. Noh, John Pappas, Ellen Moran, Nikolaos M. Marinakis, Joanne Traeger-Synodinos, Susan Hosseini, Mohammad Reza Abbaszadegan, Roseline Caumes, Lisenka E L M Vissers, Maedeh Neshatdoust, Mostafa Montazer Zohour, Elmostafa El Fahime, Christina Canavati, Lara Kamal, Moien Kanaan, Omar Askander, Victoria Voinova, Olga Levchenko, Shahzhad Haider, Sara S. Halbach, Rayana Elias Maia, Salehi Mansoor, Vivek Jain, Sanjukta Tawde, Viveka Santhosh R. Challa, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Lucas Alves Victor, Benito Pinero-Banos, Jennifer Hague, Heba Ahmed ElAwady, Adelia Maria de Miranda Henriques-Souza, Huma Arshad Cheema, Muhammad Nadeem Anjum, Sara Idkaidak, Firas Alqarajeh, Osama Atawneh, Hagar Mor-Shaked, Tamar Harel, Giovanni Zifarelli, Peter Bauer, Fernando Kok, Joao Paulo Kitajima, Fabiola Monteiro, Juliana Josahkian, Gaetan Lesca, Nicolas Chatron, Dorothe Ville, David Murphy, Jeffrey L. Neul, Sureni V. Mullegama, Amber Begtrup, Isabella Herman, Tadahiro Mitani, Jennifer E. Posey, Chee Geap Tay, Iram Javed, Lucinda Carr, Farah Kanani, Fiona Beecroft, Lee Hane, Elsayed Abdelkreem, Milan Macek, Luciana Bispo, Marwa Abd Elmaksoud, Farzad Hashemi-Gorji, Davut Pehlivan, David J. Amor, Rami Abou Jamra, Wendy K. Chung, Eshan Ghayoor Karimiani, Philippe M. Campeau, Fowzan S. Alkuraya, Alistair T. Pagnamenta, Joseph G. Gleeson, James R. Lupski, Pasquale Striano, Andres Moreno-De-Luca, Denis L J Lafontaine, Henry Houlden, and Reza Maroofian (Article)
Wanted, but Elusive: Clear Solutions for Addressing Potential Group Harm in Data-Centric Research., Carolyn Riley Chapman, Patrick Dwyer, Kellie Owens, Courtney D. Berrios, Heini M. Natri, Arthur L. Caplan, and Gwendolyn P. Quinn (Response or Comment)
Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy., Viorica Chelban, David Pellerin, Nirosen Vijiaratnam, Hamin Lee, Yen Yee Goh, Lauren Brown, Sara Sambin, Danielle Seilhean, Stephane Lehericy, Pablo Iruzubieta, Rahema Mohammad, Eleanor Self, Annarita Scardamaglia, Cameron Lee, Miriama Ostrozovicova, Marie-Josée Dicaire, Christine Girges, Emil K. Gustavsson, David Murphy, Toby Curless, Joshua Laß, Joanne Trinh, Timothy Rittman, James B. Rowe, Marios Hadjivassiliou, Neil Archibald, Matt C. Danzi, Catherine Ashton, Virginie Roth, Marion Wandzel, Warren A. Cheung, Djordje O. Gveric, Bart De Vil, Jordan Follett, P Nigel Leigh, Lukas Beichert, Tomi Pastinen, Céline Bonnet, Mathilde Renaud, Wassilios G. Meissner, Anne Sieben, David Crosiers, Patrick Cras, Stephan Zuchner, Jean-Christophe Corvol, Matthew J. Farrer, Matthis Synofzik, Bernard Brais, Tom Warner, Huw R. Morris, Zane Jaunmuktane, Tom Foltynie, and Henry Houlden (Article)
Genome-wide profiling of highly similar paralogous genes using HiFi sequencing., Xiao Chen, Daniel Baker, Egor Dolzhenko, Joseph M. Devaney, Jessica Noya, April S. Berlyoung, Rhonda Brandon, Kathleen S. Hruska, Lucas Lochovsky, Paul Kruszka, Scott Newman, Emily G. Farrow, Isabelle Thiffault, Tomi Pastinen, Dalia Kasperaviciute, Christian Gilissen, Lisenka Vissers, Alexander Hoischen, Seth Berger, Eric Vilain, Emmanuèle Délot, UCI Genomics Research to Elucidate the Genetics of Rare diseases (UCI GREGoR) Consortium, and Michael A. Eberle (Article)
Rare variants in BMAL1 are associated with a neurodevelopmental syndrome, Vishnu Anand Cuddapah, Dechun Chen, Bumsik Cho, Rebecca Moore, Mohnish Suri, Hana Safraou, Frederic Tran-Mau-Them, Ashley Wilson, Jacqueline Odgis, Atteeq U. Rehman, Carol J. Saunders, Shiva Ganesan, Vaidehi Jobanputra, Stephen W. Scherer, Ingo Helbig, and Amita Sehgal (Article)
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)
No Suspicion for NOCARH: A Cautionary Tale of Anchoring Bias, Nicole DeMarco, Julia Allyson Hays, Bonnie Sullivan, Michael Price, Kimberly A. Horii, and Shannon Haines (Poster)
Structural variation, selection, and diversification of the NPIP gene family from the human pangenome., Philip C. Dishuck, Katherine M. Munson, Alexandra P. Lewis, Max L. Dougherty, Jason G. Underwood, William T. Harvey, PingHsun Hsieh, Tomi Pastinen, and Evan E. Eichler (Article)
The ALPL gene variant project: results of the first 100 reclassified variants., Mariam R. Farman, Theodora Malli, Catherine Rehder, Gerald Webersinke, Cheryl Rockman-Greenberg, Kathryn Dahir, Gabriel Á. Martos-Moreno, Agnès Linglart, Keiichi Ozono, Lothar Seefried, Guillermo Del Angel, Francesca Barbazza, Sara Shojaei, Jessica Ebner-Jahn, Florian Högler, Erica B. Nading, Erin Huggins, Eric T. Rush, Ahmed El-Gazzar, Josephine T. Tauer, Priya S. Kishnani, and Wolfgang Högler (Article)
Mass Spectrometry-Based Proteomic Analysis Of Changes In Surface Expression Of Oatp1b1 And Oatp1b3 Upon Inhibition Of Palmitoylation During Co-Expression Studies, Priscilla Flores-Ascencio, Cecilia Villanueva, Bruno Hagenbuch, and Whitney M. Nolte
Nucleos(t)ide Therapy for TK2-Deficient Mitochondrial Myopathy: Small Molecules With Big Potential., Jennifer L. Gannon (Editorial)
Respiratory syncytial virus and metapneumovirus infect human induced excitatory neurons and trigger an innate immune response, Gage Greening, Rebecca McLennan, Eric S. Geanes, Santosh Khanal, David Moore, Heather Mwitani, Daniel A. Louiselle, and Todd Bradley
Expanded methylome and quantitative trait loci detection by long-read profiling of personal DNA., Cristian Groza, Bing Ge, Warren A. Cheung, Tomi Pastinen, and Guillaume Bourque (Article)
ICAM-1 autoantibodies detected in healthy individuals and cross-react with functional epitopes., Marc L. Herman, Eric S. Geanes, Rebecca McLennan, Gage Greening, Heather Mwitanti, and Todd Bradley (Article)
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey., Alina Ivaniuk, Irina A. Anselm, Aaron Bowen, Bruce H. Cohen, Fatma Tuba Eminoglu, Jane Estrella, Renata C. Gallagher, Rebecca D. Ganetzky, Jennifer L. Gannon, Grainne S. Gorman, Carol Greene, Andrea L. Gropman, Richard H. Haas, Michio Hirano, Seema Kapoor, Amel Karaa, Mary Kay Koenig, Cornelia Kornblum, Engin Kose, Austin Larson, Uta Lichter-Konecki, Piervito Lopriore, Michelangelo Mancuso, Robert McFarland, Aye Myat Moe, Eva Morava, Yi Shiau Ng, Russell P. Saneto, Fernando Scaglia, Carolyn M. Sue, Mark Tarnopolsky, Melissa A. Walker, Sumit Parikh, Hong Kong Mitochondrial Diseases Interest Group, Fung Cheuk-Wing, Tsz-Sum Wong, Kiran Belaramani, Chun-Kong Chan, Wing-Ki Chan, Wai-Lun Larry Chan, Hon-Wing Cheung, Ka-Yin Cheung, Shek-Kwan Chang, Sing-Ngai Cheung, Tsz-Fung Cheung, Yuk-Fai Cheung, Shuk-Ching Josephine Chong, Chi-Kwan Jasmine Chow, Hon-Yin B. Chung, Sin-Ying Florence Fan, Wai-Ming Joshua Fok, Ka-Wing Fong, Tsui-Hang Sharon Fung, Kwok-Fai Hui, Ting-Hin Hui, Joannie Hui, Chun Hung Ko, Min-Chung Kwan, Mei-Kwan Anne Kwok, Sung-Shing Jeffrey Kwok, Moon-Sing Lai, Yau-On Lam, Ching-Wan Lam, Ming-Chung Lau, Chun-Yiu Eric Law, Hiu-Fung Law, Wing-Cheong Lee, Han-Chih Hencher Lee, Kin-Hang Leung, Kit-Yan Leung, Siu-Hung Li, Tsz-Ki Jacky Ling, Kam-Tim Timothy Liu, Fai-Man Lo, Colin Lui, Ching-On Luk, Ho-Ming Luk, Che-Kwan Ma, Karen Ma, Kam-Hung Ma, Yuen-Ni Mew, Alex Mo, Sui-Fun Hg, Wing-Kit Grace Poon, Bun Sheng, Cheuk-Ling Charing Szeto, Shuk-Mui Tai, Jing-Liang Tang, Choi-Ting Alan Tse, Li-Yan Lilian Tsung, Ho-Ming June Wong, Wing-Yin Winnie Wong, Kwok-Kui Wong, Suet-Na Sheila Wong, Chun-Nei Virginia Wong, Wai-Shan Sammy Wong, Chi-Kin Felix Wong, Shun-Ping Wu, Hiu-Fung Jerome Wu, Man-Mut Yau, Kin-Cheong Eric Yau, Wai-Lan Yeung, Hon-Ming Jonas Yeung, Kin-Keung Edwin Yip, Hui-Jun Wu, Pui-Hong Terence Young, Gao Yuan, Yuet-Ping Liz Yuen, and Chi-Lap Yuen (Article)
Structural polymorphism and diversity of human segmental duplications., Hyeonsoo Jeong, Philip C. Dishuck, DongAhn Yoo, William T. Harvey, Katherine M. Munson, Alexandra P. Lewis, Jennifer Kordosky, Gage H. Garcia, Human Genome Structural Variation Consortium (HGSVC), Feyza Yilmaz, Pille Hallast, Charles Lee, Tomi Pastinen, and Evan E. Eichler (Article)
Detection of Chromosomal Mosaicism- the Importance of Karyotyping and FISH, Allison Kalinousky, Jennifer Roberts, Madeeha Alikhan, John Herriges, Lei Zhang, and Elena Repnikova (Poster)
X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline., Aliya A. Khan, Dalal S. Ali, Natasha M. Appelman-Dijkstra, Thomas O. Carpenter, Catherine Chaussain, Erik A. Imel, Suzanne M. Jan de Beur, Pablo Florenzano, Hajar Abu Alrob, Rana Aldabagh, R Todd Alexander, Farah Alsarraf, Signe Sparre Beck-Nielsen, Martin Biosse-Duplan, Martine Cohen-Solal, Rachel K. Crowley, Karel Dandurand, Guido Filler, Lisa Friedlander, Seiji Fukumoto, Claudia Gagnon, Paul Goodyer, Corinna Grasemann, Chelsey Grimbly, Salma Hussein, Muhammad K Javaid, Sarah Khan, Aneal Khan, Anna Lehman, Willem F. Lems, E Michael Lewiecki, Ciara McDonnell, Reza D. Mirza, Emmett Morgante, Archibald Morrison, Anthony A. Portale, Yumie Rhee, Eric T. Rush, Heide Siggelkow, Sotirios Tetradis, Laura Tosi, Leanne M. Ward, Gordon Guyatt, and Maria Luisa Brandi (Article)
Key Learnings from Clinical Research and Real-World Evidence on Asfotase Alfa Effectiveness in Hypophosphatasia: 10 Years Post-Approval., Aliya A. Khan, Eric T. Rush, Craig Wakeford, Daniel Staub, and Maria Luisa Brandi (Article)
Single-Cell Analysis of Nasal Mucosa Reveals Immune Response in Respiratory Syncytial Virus (RSV) Infection, Santosh Khanal, Eric S. Geanes, Carl F. Schreck, Daniel A. Louiselle, Alyse Peters, Nick Nolte, Libby Corkran, Anjana Sasidharan, Bradley Belden, Gage Greening, Rebecca McLennan, Tomi Pastinen, Rangaraj Selvarangan, Todd Bradley, and Elin Grundberg
Revisiting the Genetics of Hypophosphatasia., Priya S. Kishnani, Catherine Rehder, Keiichi Ozono, Jordi Pérez-López, Guillermo Del Angel, William R. Mowrey, Meena Balasubramanian, Wolfgang Högler, and Eric T. Rush (Article)
Treatment and Improved Outcomes of Three Adult Patients With Guanidinoacetate Methyltransferase (GAMT) Deficiency., Angela Lee, Judith Weisenberg, Elizabeth Toolan, and Marwan Shinawi (Article)
Morphometric analysis of spina bifida after fetal repair shows new subtypes with associated outcomes., L K Mann, S Pandiri, N Agarwal, H Northrup, K S Au, Elin Grundberg, E P Bergh, M T Austin, R Patel, B Miller, S Zhu, J S Feinberg, D Lai, K Tsao, S A Fletcher, and R Papanna (Article)
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies., Francesca Mattioli, Rún Friðriksdóttir, Anne Hebert, Sissy Bassani, Nazia Ibrahim, Shagufta Naz, Jacqueline Chrast, Clara Pailler-Pradeau, Ásmundur Oddsson, Patrick Sulem, Gisli H. Halldorsson, Páll Melsted, Daníel F. Guðbjartsson, Flavia Palombo, Tommaso Pippucci, Nayereh Nouri, Marco Seri, Emily G. Farrow, Carol J. Saunders, Nicolas Guex, Muhammad Ansar, Kari Stefansson, and Alexandre Reymond (Article)
Rapid and scalable personalized ASO screening in patient-derived organoids., John C. Means, Anabel L. Martinez-Bengochea, Daniel A. Louiselle, Jacqelyn Nemechek, John M. Perry, Emily G. Farrow, Tomi Pastinen, and Scott T. Younger (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)
Transcriptional dynamics of natural killer cells under hyperthermic and acidic inflammatory conditions, Heather Mwitani, Gage Greening, Rebecca McLennan, Eric S. Geanes, Santosh Khanal, and Todd Bradley
One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient Matchmaking., Matthew Osmond, E Magda Price, Orion J. Buske, Mackenzie Frew, Madeline Couse, Taila Hartley, Conor Klamann, Hannah G B H Le, Jenny Xu, Delvin So, Anjali Jain, Kevin Lu, Kevin Mo, Hannah Wyllie, Erika Wall, Hannah G. Driver, Warren A. Cheung, Ana S A Cohen, Emily G. Farrow, Isabelle Thiffault, Care Rare Canada Consortium, Andrei L. Turinsky, Tomi Pastinen, Michael Brudno, and Kym M. Boycott (Article)
Splicing Defects and Cell Death Cause SF3B2-Linked Craniofacial Microsomia, S Rao, K E N Watt, L Maili, M Lamb, Emily G. Farrow, H Hassan, K Weaver, B Miller, S Dash, L L Cox, L Gallacher, S G Kant, Margaret Gibson, Tomi Pastinen, D Li, E J K Bhoj, H Zhu, J Zhang, Y-B Zhang, T Y Tan, P A Trainor, and T C Cox (Article)
Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United States., Eric T. Rush, Guillermo Del Angel, Juan Dong, Toby Bates, Robert D. Steiner, and Allison Cox (Article)
Diagnosis and Treatment of Hypophosphatasia., L Seefried, F Genest, C Hofmann, M L Brandi, and Eric T. Rush (Article)
CpG methylation changes associated with hyperglycemia in type 1 diabetes occur at angiogenic glomerular and retinal gene loci., Xiaojian Shao, Sophie Le Fur, Warren A. Cheung, Marie-Pierre Belot, Kevin Perge, Natacha Bouhours-Nouet, Candace Bensignor, Lucie Levaillant, Bing Ge, Tony Kwan, Mark Lathrop, Tomi Pastinen, and Pierre Bougnères (Article)
Germline and Somatic Changes Associated with the Development of Inherited and De Novo Pediatric Acute Myeloid Leukemia., Scott C. Smith and Lei Zhang (Article)
Methylation patterns of the nasal epigenome of hospitalized SARS-CoV-2 positive patients reveal insights into molecular mechanisms of COVID-19., Benjamin L. Spector, Boryana Koseva, Rebecca McLennan, Dithi Banerjee, Kamani Lankachandra, Todd Bradley, Rangaraj Selvarangan, and Elin Grundberg (Article)
Total plasma cfDNA methylation in pediatric kidney transplant recipients provides insight into acute allograft rejection pathophysiology., Benjamin L. Spector, Boryana Koseva, Drinnan Sante, Warren A. Cheung, Reid S. Alisch, Alexander Kats, Phillip Bergmann, Elin Grundberg, Gerald J. Wyckoff, and Laurel K. Willig (Article)
Association of Rare Variants in Kidney Developmental Genes With Chronic Kidney Disease and Blood Pressure: A UK Biobank Study., Benjamin L. Spector, Byunggil Yoo, Neil Miller, Monica Gaddis, Isabelle Thiffault, and Laurel K. Willig (Article)
Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter., Romy J. van Voorst, Daphne H. Schoenmakers, Joshua L. Bonkowsky, Adeline Vanderver, Ingeborg Krägeloh-Mann, Geneviève Bernard, Enrico Bertini, Ali Fatemi, Paulo V. Sgobbi, Nicole I. Wolf, Samuel Groeschel, Davide Tonduti, Caroline Sevin, Jennifer L. Orthmann-Murphy, Ludger Schöls, Ettore Salsano, Bernard Brais, Nicole Jaffe, Kasper W. Ter Horst, Sabine E. Hannema, Katherine G. Hayes, Jochen Meyburg, Marc van Heerde, Anne Marie Sbrocchi, Rosalina van Spaendonk, Isabelle Thiffault, Geesje H. Hofsteenge, Carolina Sudmeier-Broek, Corrie Timmer, Donna Skwirut, Allyson Buck, Bret Hollberg, Ron Chapleau, Hanka Dekker, Susan G. Campbell, Truus E M Abbink, Prisca S. Leferink, and Marjo S. van der Knaap (Article)
A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines., Susan M. White, Annelotte P. Wondergem, Isa Breet, Maren Dittmaier, Katrina Bell, Christopher M. Richmond, Winita Hardikar, Kanika Bhatia, Catherine Quinlan, David Orchard, Areetha D'Souza, Walter J. Chazin, Christopher Smith, Rebecca Sparkes, Simon Lam, Alexandra Carter, Robert J. Hopkin, Leticia Khendek, Bonnie Sullivan, Naja Becher, Anne Katrine W. Simonsen, Helene Kvistgaard, Katherine Dempsey, Alexander G. Miethke, Pernille Axél Gregersen, Eliza Phillips, and Martijn S. Luijsterburg (Article)
Long-read sequencing is required for precision diagnosis of incontinentia pigmenti., Monica H. Wojcik, Robin D. Clark, Abdallah F. Elias, Casie A. Genetti, Jill A. Madden, Dana Simpson, Linda Golkar, Miranda P G Zalusky, Angela L. Miller, Araceli Rodriguez, Joy Goffena, Camille A. Dash, Nikhita Damaraju, Sophia B. Gibson, Sophie H R Storz, Zachary B. Anderson, Jonas A. Gustafson, Isabelle Thiffault, Emily G. Farrow, Tomi Pastinen, Jasmine Lin, Jennifer T. Huang, Alan H. Beggs, Pankaj B. Agrawal, Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium, David T. Miller, and Danny E. Miller (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)
The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors., Joshua L. Deignan, Vimla Aggarwal, Allen E. Bale, Daniel B. Bellissimo, Jessica K. Booker, Yang Cao, Kristy R. Crooks, Kristen L. Deak, Daniela Del Gaudio, Birgit Funke, Nicole L. Hoppman, Vanessa Horner, Robert B. Hufnagel, Colleen Jackson-Cook, Prasad Koduru, Marco L. Leung, Shibo Li, Pengfei Liu, Minjie Luo, Rong Mao, Heather Mason-Suares, Fady M. Mikhail, Stephen R. Moore, Rizwan C. Naeem, Laura M. Pollard, Elena Repnikova, Lina Shao, Brandon M. Shaw, Shashirekha Shetty, Teresa A. Smolarek, Elizabeth Spiteri, Jessica Van Ziffle, Gail H. Vance, Cindy L. Vnencak-Jones, and Eli S. Williams (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
Increased Chemokine Production is a Hallmark of Rhesus Macaque Natural Killer Cells Mediating Robust Anti-HIV Envelope-Specific Antibody-Dependent Cell-Mediated Cytotoxicity., Junsuke Nohara, Tyler Evangelous, Madison Berry, Whitney Beck, Sarah Mudrak, Shalini Jha, R Keith Reeves, Kevin J. Wiehe, Justin Pollara, Georgia D. Tomaras, Todd Bradley, and Guido Ferrari (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)
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)
Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy, Stefanie Perrier, Julia Macintosh, Agata D. Misiaszek, Gabrielle Lambert, Kether Guerrero, Luan T. Tran, Christoph W. Müller, Tomi Pastinen, Gustavo H B Maegawa, Isabelle Thiffault, and Geneviève Bernard (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)
