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Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach Rozevska, Marija; Neiburga-Vigante, Katrina Daila; Nartisa, Inga; Lucane, Zane; Ozola, Lota; Bardina, Livija; Jaunalksne, Inta; Gerula, Natalija; Krike, Petra; Taurina, Gita; Nokalna-Spale, Ieva; Micule, Ieva; Vilne, Baiba; Kisand, Kai; Pajusalu, Sander; Gailite, Linda; Rots, Dmitrijs; Kurjane, Natalja Share Save
TTN-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant Ounap, Katrin; Reimand, Tiia; oiglane-Shlik, Eve; Puusepp, Sanna; Mihkla, Laura; Pajusalu, Sander; Savarese, Marco; Udd, Bjarne Share Save
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG Pajusalu, Sander; Vals, Mari-Anne; Serrano, Mercedes; Witters, Peter; Cechova, Anna; Honzik, Tomas; Edmondson, Andrew C.; Ficicioglu, Can; Barone, Rita; De Lonlay, Pascale; Berat, Claire-Marine; Vuillaumier-Barrot, Sandrine; Lam, Christina; Patterson, Marc C.; Janssen, Mirian C. H.; Martins, Esmeralda; Quelhas, Dulce; Sykut-Cegielska, Jolanta; Mousa, Jehan; Urreizti, Roser; Mcwilliams, Peter; Vernhes, Frederique; Plotkin, Horacio; Morava, Eva; Ounap, Katrin Share Save
The feasibility of polygenic risk score-based population screening for breast cancer: The experience from the BRIGHT study in Estonia Lepland, A.; Tamm, M.; Padrik, P.; Paas, A.; Kruuv-Kao, K.; Sober, S.; Roht, L.; Ojamaa, K.; Pajusalu, S.; Padrik, A.; Pindmaa, J.; Luga, K.; Rootslane, L.; Ilves, A.; Ulp, S.; Kallak, K.; Tihamae, A-T.; Leitsalu, L.; Tonisson, N. Share Save
Genome Sequencing for Diagnosing Rare Diseases Wojcik, Monica H.; Lemire, Gabrielle; Berger, Eva; Zaki, Maha S.; Wissmann, Mariel; Win, Wathone; White, Susan M.; Weisburd, Ben; Wieczorek, Dagmar; Waddell, Leigh B.; Verboon, Jeffrey M.; VanNoy, Grace E.; Toepf, Ana; Tan, Tiong Yang; Syrbe, Steffen; Strehlow, Vincent; Straub, Volker; Stenton, Sarah L.; Snow, Hana; Singer-Berk, Moriel; Silver, Josh; Shril, Shirlee; Seaby, Eleanor G.; Schneider, Ronen; Sankaran, Vijay G.; Sanchis-Juan, Alba; Russell, Kathryn A.; Reinson, Karit; Ravenscroft, Gianina; Radtke, Maximilian; Popp, Denny; Polster, Tilman; Platzer, Konrad; Pierce, Eric A.; Place, Emily M.; Pajusalu, Sander; Pais, Lynn; Ounap, Katrin; Osei-Owusu, Ikeoluwa; Opperman, Henry; Okur, Volkan; Oja, Kaisa Teele; O'Leary, Melanie; O'Heir, Emily; Morel, Chantal F.; Merkenschlager, Andreas; Marchant, Rhett G.; Mangilog, Brian E.; Madden, Jill A.; MacArthur, Daniel; Lovgren, Alysia; Lerner-Ellis, Jordan P.; Lin, Jasmine; Laing, Nigel; Hildebrandt, Friedhelm; Hentschel, Julia; Groopman, Emily; Goodrich, Julia; Gleeson, Joseph G.; Ghaoui, Roula; Genetti, Casie A.; Gburek-Augustat, Janina; Gazda, Hanna T.; Ganesh, Vijay S.; Ganapathi, Mythily; Gallacher, Lyndon; Fu, Jack M.; Evangelista, Emily; England, Eleina; Donkervoort, Sandra; DiTroia, Stephanie; Cooper, Sandra T.; Chung, Wendy K.; Christodoulou, John; Chao, Katherine R.; Cato, Liam D.; Bujakowska, Kinga M.; Bryen, Samantha J.; Brand, Harrison; Boennemann, Carsten G.; Beggs, Alan H.; Baxter, Samantha M.; Bartolomaeus, Tobias; Agrawal, Pankaj B.; Talkowski, Michael; Austin-Tse, Christina; Abou Jamra, Rami; Rehm, Heidi L.; O'Donnell-Luria, Anne Share Save
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease Lemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R.; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O'Heir, Emily; Ganesh, Vijay S.; Wojcik, Monica H.; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L.; Neil, Jennifer E.; Shao, Diane D.; Walsh, Christopher A.; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H.; Gleeson, Joseph G.; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G.; Madden, Jill A.; Genetti, Casie A.; Beggs, Alan H.; Agrawal, Pankaj B.; Bujakowska, Kinga M.; Place, Emily; Pierce, Eric A.; Donkervoort, Sandra; Boennemann, Carsten G.; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M.; Toepf, Ana; Straub, Volker; Fleming, Mark D.; Pollak, Martin R.; Ounap, Katrin; Pajusalu, Sander; Donald, Kirsten A.; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G.; MacArthur, Daniel G.; Rehm, Heidi L.; Talkowski, Michael E.; Brand, Harrison; O'Donnell-Luria, Anne Share Save
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy Donkervoort, Sandra; Mohassel, Payam; O'Leary, Melanie; Bonner, Devon E.; Hartley, Taila; Acquaye, Nicole; Brull, Astrid; Mozaffar, Tahseen; Saporta, Mario A.; Dyment, David A.; Sampson, Jacinda B.; Pajusalu, Sander; Austin-Tse, Christina; Hurth, Kyle; Cohen, Julie S.; Mcwalter, Kirsty; Warman-Chardon, Jodi; Crunk, Amy; Foley, A. Reghan; Mammen, Andrew L.; Wheeler, Matthew T.; O'Donnell-Luria, Anne; Bonnemann, Carsten G. Share Save
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome Engal, Eden; Oja, Kaisa Teele; Maroofian, Reza; Geminder, Ophir; Le, Thuy-Linh; Marzin, Pauline; Guimier, Anne; Mor, Evyatar; Zvi, Naama; Elefant, Naama; Zaki, Maha S.; Gleeson, Joseph G.; Muru, Kai; Pajusalu, Sander; Wojcik, Monica H.; Pachat, Divya; Elmaksoud, Marwa Abd; Jeong, Won Chan; Lee, Hane; Bauer, Peter; Zifarelli, Giovanni; Houlden, Henry; Daana, Muhannad; Elpeleg, Orly; Amiel, Jeanne; Lyonnet, Stanislas; Gordon, Christopher T.; Harel, Tamar; Ounap, Katrin; Salton, Maayan; Mor-Shaked, Hagar Share Save
Human skeletal myopathy myosin mutations disrupt myosin head sequestration Carrington, Glenn; Hau, Abbi; Kosta, Sarah; Dugdale, Hannah F.; Muntoni, Francesco; D'Amico, Adele; Van den Bergh, Peter; Romero, Norma B.; Malfatti, Edoardo; Vilchez, Juan Jesus; Oldfors, Anders; Pajusalu, Sander; Ounap, Katrin; Giralt-Pujol, Marta; Zanoteli, Edmar; Campbell, Kenneth S.; Iwamoto, Hiroyuki; Peckham, Michelle; Ochala, Julien Share Save
Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne's Muscular Dystrophy Lek, Angela; Wong, Brenda; Keeler, Allison; Blackwood, Meghan; Ma, Kaiyue; Huang, Shushu; Sylvia, Katelyn; Batista, A. Rita; Artinian, Rebecca; Kokoski, Danielle; Parajuli, Shestruma; Putra, Juan; Carreon, C. Katte; Lidov, Hart; Woodman, Keryn; Pajusalu, Sander; Spinazzola, Janelle M.; Gallagher, Thomas; Larovere, Joan; Balderson, Diane; Black, Lauren; Sutton, Keith; Horgan, Richard; Lek, Monkol; Flotte, Terence Share Save
Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans Fletcher, Sally C.; Hall, Charlotte; Kennedy, Tristan J.; Pajusalu, Sander; Wojcik, Monica H.; Boora, Uncaar; Li, Chan; Oja, Kaisa Teele; Hendrix, Eline; Westrip, Christian A. E.; Andrijes, Regina; Piasecka, Sonia K.; Singh, Mansi; El-Asrag, Mohammed E.; Ptasinska, Anetta; Tillmann, Vallo; Higgs, Martin R.; Carere, Deanna A.; Beggs, Andrew D.; Pappas, John; Rabin, Rachel; Smerdon, Stephen J.; Stewart, Grant S.; Ounap, Katrin; Coleman, Mathew L. Share Save
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder Janssen, Beau D. E.; van den Boogaard, Marie-Jose H.; Lichtenbelt, Klaske; Seaby, Eleanor G.; Stals, Karen; Ellard, Sian; Newbury-Ecob, Ruth; Dixit, Abhijit; Roht, Laura; Pajusalu, Sander; Ounap, Katrin; Firth, Helen, V; Buckley, Michael; Wilson, Meredith; Roscioli, Tony; Tidwell, Timothy; Mao, Rong; Ennis, Sarah; Holwerda, Sjoerd J.; van Gassen, Koen; van Jaarsveld, Richard H. Share Save
CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related Mroczek, Magdalena; Inashkina, Inna; Stavusis, Janis; Zayakin, Pawel; Khrunin, Andrey; Micule, Ieva; Kenina, Victorija; Zdanovica, Anna; Zidkova, Jana; Fajkusova, Lenka; Limborska, Svetlana; van der Kooi, Anneke J.; Brusse, Esther; Leonardis, Lea; Maver, Ales; Pajusalu, Sander; Ounap, Katrin; Puusepp, Sanna; Dobosz, Paula; Sypniewski, Mateusz; Burnyte, Birute; Lace, Baiba Share Save
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders (vol 108, pg 1692, 2021) Stolz, Jacob R.; Foote, Kendall M.; Veenstra-Knol, Hermine E.; Pfundt, Rolph; ten Broeke, Sanne W.; de Leeuw, Nicole; Roht, Laura; Pajusalu, Sander; Part, Reelika; Rebane, Ionella; Ounap, Katrin; Stark, Zornitza; Kirk, Edwin P.; Lawson, John A.; Lunke, Sebastian; Christodoulou, John; Louie, Raymond J.; Rogers, R. Curtis; Davis, Jessica M.; Innes, A. Micheil; Wei, Xing-Chang; Keren, Boris; Mignot, Cyril; Lebel, Robert Roger; Sperber, Steven M.; Sakonju, Ai; Dosa, Nienke; Barge-Schaapveld, Daniela Q. C. M.; Peeters-Scholte, Cacha M. P. C. D.; Ruivenkamp, Claudia A. L.; van Bon, Bregje W.; Kennedy, Joanna; Low, Karen J.; Ellard, Sian; Pang, Lewis; Junewick, Joseph J.; Mark, Paul R.; Carvill, Gemma L.; Swanson, Geoffrey T. Share Save
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5 Linders, Peter T. A.; Gerretsen, Eveline C. F.; Ashikov, Angel; Vals, Mari-Anne; de Boer, Rinse; Revelo, Natalia H.; Arts, Richard; Baerenfaenger, Melissa; Zijlstra, Fokje; Huijben, Karin; Raymond, Kimiyo; Muru, Kai; Fjodorova, Olga; Pajusalu, Sander; Ounap, Katrin; Ter Beest, Martin; Lefeber, Dirk; van den Bogaart, Geert Share Save
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases De la Vega, Francisco M.; Chowdhury, Shimul; Moore, Barry; Frise, Erwin; McCarthy, Jeanette; Hernandez, Edgar Javier; Wong, Terence; James, Kiely; Guidugli, Lucia; Agrawal, Pankaj B.; Genetti, Casie A.; Brownstein, Catherine A.; Beggs, Alan H.; Loescher, Britt-Sabina; Franke, Andre; Boone, Braden; Levy, Shawn E.; Ounap, Katrin; Pajusalu, Sander; Huentelman, Matt; Ramsey, Keri; Naymik, Marcus; Narayanan, Vinodh; Veeraraghavan, Narayanan; Billings, Paul; Reese, Martin G.; Yandell, Mark; Kingsmore, Stephen F. Share Save
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