Search Results - Sander Pajusalu

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  1. 1

    Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency by Hardo Lilleväli, Sander Pajusalu, Monica H. Wojcik, Julia Goodrich, Ryan L. Collins, Ülle Murumets, Pille Tammur, Nenad Blau, Kersti Lilleväli, Katrin Õunap

    Published in Molecular Genetics & Genomic Medicine (2020-04-01)
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  2. 2

    The phenotypic spectrum of PTCD3 deficiency by Baiba Lace, Eissa Faqeih, Namik Kaya, Zita Krumina, Johannes A. Mayr, Ieva Micule, Nathan Thompson Wright, Melanie T. Achleitner, Hanan AlQudairy, Sander Pajusalu, Janis Stavusis, Pawel Zayakin, Inna Inashkina

    Published in JIMD Reports (2024-09-01)
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  3. 3

    Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach by Marija Rozevska, Marija Rozevska, Katrina Daila Neiburga-Vigante, Katrina Daila Neiburga-Vigante, Inga Nartisa, Inga Nartisa, Zane Lucane, Zane Lucane, Lota Ozola, Lota Ozola, Livija Bardina, Livija Bardina, Inta Jaunalksne, Natalija Gerula, Petra Krike, Petra Krike, Gita Taurina, Ieva Nokalna-Spale, Ieva Nokalna-Spale, Ieva Nokalna-Spale, Ieva Micule, Baiba Vilne, Kai Kisand, Sander Pajusalu, Sander Pajusalu, Linda Gailite, Dmitrijs Rots, Dmitrijs Rots, Dmitrijs Rots, Natalja Kurjane, Natalja Kurjane, Natalja Kurjane

    Published in Frontiers in Immunology (2025-03-01)
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  4. 4

    Human skeletal myopathy myosin mutations disrupt myosin head sequestration by Glenn Carrington, Abbi Hau, Sarah Kosta, Hannah F. Dugdale, Francesco Muntoni, Adele D’Amico, Peter Van den Bergh, Norma B. Romero, Edoardo Malfatti, Juan Jesus Vilchez, Anders Oldfors, Sander Pajusalu, Katrin Õunap, Marta Giralt-Pujol, Edmar Zanoteli, Kenneth S. Campbell, Hiroyuki Iwamoto, Michelle Peckham, Julien Ochala

    Published in JCI Insight (2023-11-01)
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  5. 5

    Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy by Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E. Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A. Saporta, David A. Dyment, Jacinda B. Sampson, Sander Pajusalu, Christina Austin‐Tse, Kyle Hurth, Julie S. Cohen, Kirsty McWalter, Jodi Warman‐Chardon, Amy Crunk, A. Reghan Foley, Undiagnosed Diseases Network, Andrew L. Mammen, Matthew T. Wheeler, Anne O'Donnell‐Luria, Carsten G. Bönnemann

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  6. 6

    Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans by Sally C. Fletcher, Charlotte Hall, Tristan J. Kennedy, Sander Pajusalu, Monica H. Wojcik, Uncaar Boora, Chan Li, Kaisa Teele Oja, Eline Hendrix, Christian A.E. Westrip, Regina Andrijes, Sonia K. Piasecka, Mansi Singh, Mohammed E. El-Asrag, Anetta Ptasinska, Vallo Tillmann, Martin R. Higgs, Deanna A. Carere, Andrew D. Beggs, John Pappas, Rachel Rabin, Stephen J. Smerdon, Grant S. Stewart, Katrin Õunap, Mathew L. Coleman

    Published in The Journal of Clinical Investigation (2023-04-01)
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  7. 7

    P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies* by Marina DiStefano, Ryan Webb, Hannah McCurry, Shannon McNulty Gray, Swati Tomar, Prasad Kopparapu, Eleanor Broeren, Kezang Tshering, Alan Beggs, Enrico Silvio Bertini, Adele D'Amico, Sandra Donkervoort, James Dowling, Fabiana Fattori, Ana Ferreiro, Casie Genetti, Hernan Gonorazky, Svetlana Gorokhova, Amanda Lindy, Livija Medne, Sander Pajusalu, Katarina Pelin, John Rendu, Matteo Vatta, Tom Winder, Hui Yang, Grace Yoon, Ozge Ceyhan-Birsoy, Carsten Bönnemann

    Published in Genetics in Medicine Open (2023-01-01)
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