부산대학교 도서관

Snodgrass, C.; Epifani, E. Mazzotta; Tubiana, C.; Sánchez, J. P.; Biver, N.; Inno, L.; Knight, M. M.; Lacerda, P.; De Keyser, J.; Donaldson, A.; Edberg, N. J. T.; Galand, M.; Guilbert-Lepoutre, A.; Henri, P.; Kasahara, S.; Kawakita, H.; Kokotanekova, R.; Kueppers, M.; Micheli, M.; Pajusalu, M.; Rubin, M.; Sakatani, N.; Yoshioka, K.; Della Corte, V.; Eriksson, A. I.; Fulle, M.; Holt, C.; Lara, L.; Rotundi, A.; Jehin, E.

Kivastik, J.; Sams, H.H.; Muru, S.; Ehrpais, H.; Eenmae, T.; Kuusk, J.; Slavinskis, A.; Pajusalu, M.

IEEE Journal on Miniaturization for Air and Space Systems IEEE J. Miniat. Air Space Syst. Miniaturization for Air and Space Systems, IEEE Journal on. 3(4):242-248 Dec, 2022

Oja KT; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Ilisson M; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Reinson K; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Muru K; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Reimand T; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Peterson H; Institute of Computer Science, Faculty of Science and Technology, University of Tartu, Tartu, Estonia.; Fishman D; Institute of Computer Science, Faculty of Science and Technology, University of Tartu, Tartu, Estonia.; STACC OÜ, Tartu, Estonia.; Haller T; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.; Kronberg J; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.; Estonian Biobank Research Team; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.; Wojcik MH; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, United States.; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, United States.; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, United States.; Kennedy AD; Metabolon, Morrisville, NC, United States.; Sommerville L; Metabolon, Morrisville, NC, United States.; Michelotti G; Metabolon, Morrisville, NC, United States.; O'Donnell-Luria A; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, United States.; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, United States.; Õiglane-Shlik E; Department of Pediatrics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Pajusalu S; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Õunap K; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Ross JE; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Flowers M; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; McNulty S; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Patel M; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Yang H; GeneDx, Gaithersburg, MD, USA.; Palus B; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Abdelmoneim Elnagheeb M; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Eng L; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Owens E; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Beggs AH; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; D'Amico A; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, National Institute of Neurological Disorders, Bethesda, USA.; Dowling J; Division of Neurology, Program for Genetics and Genome Biology, Hospital for Sick Children, Toronto, Canada.; Fattori F; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Ferreiro A; Basic and Translational Myology Laboratory, Université de Paris, Paris, France.; Genetti CA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Gonorazky H; Basic and Translational Myology Laboratory, Université de Paris, Paris, France.; Lek M; Department of Genetics, Yale School of Medicine, New Haven, USA.; Lindy A; GeneDx, Gaithersburg, MD, USA.; Medne L; Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, USA.; Muntoni F; Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health, London, UK.; Pajusalu S; Department of Genetics, Yale School of Medicine, New Haven, USA.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Pelin K; Molecular and Integrative Biosciences Research Programme, Faculty of Biological and Environmental Sciences, University of Helsinki, Helsinki, Finland.; Rendu J; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble, France.; Sarkozy A; Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health, London, UK.; Vatta M; Labcorp Genetics Inc. (formerly Invitae Corp.), San Francisco, CA, USA.; Winder T; Labcorp Genetics Inc. (formerly Invitae Corp.), San Francisco, CA, USA.; Yoon G; Divisions of Neurology and Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, National Institute of Neurological Disorders, Bethesda, USA.; Ceyhan-Birsoy O; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

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; Acosta, Maria T.; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Allworth, Aimee; Andrews, Ashley; Ashley, Euan A.; Afzali, Ben; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak‐Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Cassini, Thomas; Chanprasert, Sirisak; Chao, Hsiao‐Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D' Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Delgado, Margaret; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Fu, Jiayu; Gahl, William A.; Glass, Ian; Goddard, Page C.; Godfrey, Rena A.; Gropman, Andrea; Halley, Meghan C.; Hamid, Rizwan; Hanchard, Neal; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike‐Pyne, Martha; Huang, Alden; Huang, Yan; Hutchison, Sarah; Introne, Wendy; Izumi, Kosuke; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean‐Marie, Orpa; Jobanputra, Vaidehi; Kaitryn, Emerald; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Leblanc, Kimberly; Lee, Brendan H.; Lewis, Richard A.; Liu, Pengfei; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; Macrae, Calum A.; Maduro, Valerie V.; Maghiro, Audreystephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez‐Agosto, Julian A.; Marwaha, Shruti; Mcconkie‐Rosell, Allyn; Mccray, Alexa T.; Mcgee, Elisabeth; Might, Matthew; Mikati, Mohamad; Miller, Danny; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Morimoto, Marie; Mulvihill, John J.; Nakano‐Okuno, Mariko; Nelson, Stanley F.; Nieves‐Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Papp, Jeanette C.; Parker, Neil H.; Petcharet, Leoyklang; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; Swerdzewski, Barbara N. Pusey; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenthal, Elizabeth; Rossignol, Francis; Ruzhnikov, Maura; Sabaii, Marla; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Seto, Elaine; Sharma, Prashant; Shashi, Vandana; Shelkowitz, Emily; Sheppeard, Sam; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Kevin S.; Solnica‐Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stergachis, Andrew; Stoler, Joan M.; Sullivan, Kathleen; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.‐G.; Amelia, L.M. Tan; Tarakad, Arjun; Taylor, Herman; Tekin, Mustafa; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee‐Kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika Weisz; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Yamamoto, Shinya; Zhang, Zhe; Zuchner, Stephan; Mammen, Andrew L.; O'Donnell‐Luria, Anne; Bönnemann, Carsten G.

Annals of Clinical and Translational Neurology. March, 2024, Vol. 11 Issue 3, p629, 640 p.

Slavinskis, Andris; Janhunen, Pekka; Toivanen, Petri; Muinonen, Karri; Penttila, Antti; Granvik, Mikael; Kohout, Tomas; Gritsevich, Maria; Pajusalu, Mihkel; Sunter, Indrek; Ehrpais, Hendrik; Dalbins, Janis; Iakubivskyi, Iaroslav; Eenmae, Tonis; Ilbis, Erik; Mauro, David; Stupl, Jan; Rivkin, Andrew S.; Bottke, William F.

2018 IEEE Aerospace Conference Aerospace Conference, 2018 IEEE. :1-20 Mar, 2018

Seager, S.; Huang, J.; Petkowski, J. J.; Pajusalu, M.

Nature Astronomy, 4(8), 802-806 (2020)

Mauring, L. ; Puusepp, S. ; Parik, M. ; Roomets, E. ; Teek, R. ; Reimand, T. ; Pajusalu, S. ; Kaljurand, K. ; Õunap, K.

In European Journal of Medical Genetics September 2023 66(9)

Tamm M; Institute of Genomics, University of Tartu, Tartu, Estonia.; Padrik P; OÜ Antegenes, Tartu, Estonia; Haematology and Oncology Clinic, Tartu University Hospital, Tartu, Estonia.; Ojamaa K; Haematology and Oncology Clinic, Tartu University Hospital, Tartu, Estonia.; Paas A; OÜ Antegenes, Tartu, Estonia.; Lepland A; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Kruuv-Käo K; OÜ Antegenes, Tartu, Estonia.; Leitsalu L; Institute of Genomics, University of Tartu, Tartu, Estonia; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Sõber S; OÜ Antegenes, Tartu, Estonia.; Roht L; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Pajusalu S; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Kahre T; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Padrik A; OÜ Antegenes, Tartu, Estonia.; Pindmaa J; OÜ Antegenes, Tartu, Estonia.; Luga K; Rapla Perearstikeskus OÜ, Rapla, Estonia.; Rootslane L; AS Magnum, Laagri, Estonia.; Ilves A; Women's Clinic, Tartu University Hospital, Tartu, Estonia.; Ulp S; Radiology Clinic, Tartu University Hospital, Tartu, Estonia.; Kallak K; Haematology and Oncology Clinic, Tartu University Hospital, Tartu, Estonia; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Tihamäe AT; Surgery Clinic, Tartu University Hospital, Tartu, Estonia.; Feldman I; Region Uppsala, Uppsala, Sweden; Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden.; Sampaio F; Region Uppsala, Uppsala, Sweden; Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden.; Costa L; Department of Oncology, Unidade Local de Saúde Santa Maria, Clinical Research Center, Lisbon Medical Academic Center, Lisbon, Portugal.; Nogueira-Costa G; Department of Oncology, Unidade Local de Saúde Santa Maria, Clinical Research Center, Lisbon Medical Academic Center, Lisbon, Portugal.; Österman T; Department of Healthcare Services, Estonian Health Insurance Fund, Tallinn, Estonia.; Rosenmöller M; IESE Business School, Barcelona, Spain.; Tõnisson N; Institute of Genomics, University of Tartu, Tartu, Estonia; OÜ Antegenes, Tartu, Estonia; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia. Electronic address: neeme.tonisson@ut.ee.

Publisher: Elsevier Country of Publication: United States NLM ID: 100898731 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1938-0666 (Electronic) Linking ISSN: 15268209 NLM ISO Abbreviation: Clin Breast Cancer Subsets: MEDLINE

Rots, D.; Chater-Diehl, E.; Dingemans, A.J.M.; Goodman, S.J.; Siu, M.T.; Cytrynbaum, C.; Choufani, S.; Hoang, N.; Walker, S.; Awamleh, Z.; Charkow, J.; Meyn, S.; Pfundt, R.; Rinne, T.; Gardeitchik, T.; Vries, B.B.A. de; Deden, A.C.; Leenders, E.; Kwint, M.; Stumpel, C.T.R.M.; Stevens, S.J.C.; Vermeulen, J.R.; Harssel, J.V.T. van; Bosch, D.G.M.; Gassen, K.L.I. van; Binsbergen, E. van; Geus, C.M. de; Brackel, H.; Hempel, M.; Lessel, D.; Denecke, J.; Slavotinek, A.; Strober, J.; Crunk, A.; Folk, L.; Wentzensen, I.M.; Yang, H.; Zou, F.G.; Millan, F.; Person, R.; Xie, Y.L.; Liu, S.X.; Ousager, L.B.; Larsen, M.; Schultz-Rogers, L.; Morava, E.; Klee, E.W.; Berry, I.R.; Campbell, J.; Lindstrom, K.; Pruniski, B.; Neumeyer, A.M.; Radley, J.A.; Phornphutkul, C.; Schmidt, B.; Wilson, W.G.; Ounap, K.; Reinson, K.; Pajusalu, S.; Haeringen, A. van; Ruivenkamp, C.; Cuperus, R.; Santos-Simarro, F.; Palomares-Bralo, M.; Pacio-Miguez, M.; Ritter, A.; Bhoj, E.; Tonne, E.; Tveten, K.; Cappuccio, G.; Brunetti-Pierri, N.; Rowe, L.; Bunn, J.; Saenz, M.; Platzer, K.; Mertens, M.; Caluseriu, O.; Nowaczyk, M.J.M.; Cohn, R.D.; Kannu, P.; Alkhunaizi, E.; Chitayat, D.; Scherer, S.W.; Brunner, H.G.; Vissers, L.E.L.M.; Kleefstra, T.; Koolen, D.A.; Weksberg, R.

Am J Hum Genet
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American Journal of Human Genetics, 108, 6, pp. 1053-1068
Rots, D, Chater-Diehl, E, Dingemans, A J M, Goodman, S J, Siu, M T, Cytrynbaum, C, Choufani, S, Hoang, N, Walker, S, Awamleh, Z, Charkow, J, Meyn, S, Pfundt, R, Rinne, T, Gardeitchik, T, de Vries, B B A, Deden, A C, Leenders, E, Kwint, M, Stumpel, C T R M, Stevens, S J C, Vermeulen, J R, van Harssel, J V T, Bosch, D G M, van Gassen, K L I, van Binsbergen, E, de Geus, C M, Brackel, H, Hempel, M, Lessel, D, Denecke, J, Slavotinek, A, Strober, J, Crunk, A, Folk, L, Wentzensen, I M, Yang, H, Zou, F, Millan, F, Person, R, Xie, Y, Liu, S, Ousager, L B, Larsen, M, Schultz-Rogers, L, Morava, E, Klee, E W, Berry, I R, Campbell, J, Lindstrom, K, Pruniski, B, Radley, J A, Phornphutkul, C, Schmidt, B, Wilson, W G, Õunap, K, Reinson, K, Pajusalu, S, van Haeringen, A, Ruivenkamp, C, Cuperus, R, Santos-Simarro, F, Palomares-Bralo, M, Pacio-Míguez, M, Ritter, A, Bhoj, E, Tønne, E, Tveten, K, Cappuccio, G, Brunetti-Pierri, N, Rowe, L, Bunn, J, Saenz, M, Platzer, K, Mertens, M, Caluseriu, O, Nowaczyk, M J M, Cohn, R D, Kannu, P, Alkhunaizi, E, Chitayat, D, Scherer, S W, Brunner, H G, Vissers, L E L M, Kleefstra, T, Koolen, D A & Weksberg, R 2021, ' Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1053-1068 . https://doi.org/10.1016/j.ajhg.2021.04.008
American Journal of Human Genetics, vol 108, iss 6
American Journal of Human Genetics

Lilles S; Children's Clinic, Institute of Clinical Medicine, University of Tartu, 50406 Tartu, Estonia.; Children's Clinic, Tartu University Hospital, European Reference Network EpiCARE, 50406 Tartu, Estonia.; Heidmets K; Children's Clinic, Institute of Clinical Medicine, University of Tartu, 50406 Tartu, Estonia.; Children's Clinic, Tartu University Hospital, European Reference Network EpiCARE, 50406 Tartu, Estonia.; Oja KT; Genetics and Personalized Medicine Clinic, Institute of Clinical Medicine, University of Tartu, 50406 Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, 50406 Tartu, Estonia.; Reinson K; Genetics and Personalized Medicine Clinic, Institute of Clinical Medicine, University of Tartu, 50406 Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, 50406 Tartu, Estonia.; Roht L; Genetics and Personalized Medicine Clinic, Tartu University Hospital, 50406 Tartu, Estonia.; Pajusalu S; Genetics and Personalized Medicine Clinic, Institute of Clinical Medicine, University of Tartu, 50406 Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, 50406 Tartu, Estonia.; Wojcik MH; Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Õunap K; Genetics and Personalized Medicine Clinic, Institute of Clinical Medicine, University of Tartu, 50406 Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, 50406 Tartu, Estonia.; Talvik I; Children's Clinic, Institute of Clinical Medicine, University of Tartu, 50406 Tartu, Estonia.; Tallinn Children's Hospital, European Reference Network EpiCARE, 13419 Tallinn, Estonia.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551542 Publication Model: Electronic Cited Medium: Print ISSN: 2036-749X (Print) Linking ISSN: 2036749X NLM ISO Abbreviation: Pediatr Rep Subsets: PubMed not MEDLINE

Jones, Geraint H.; Snodgrass, Colin; Tubiana, Cecilia; Küppers, Michael; Kawakita, Hideyo; Lara, Luisa M.; Agarwal, Jessica; André, Nicolas; Attree, Nicholas; Auster, Uli; Bagnulo, Stefano; Bannister, Michele; Beth, Arnaud; Bowles, Neil; Coates, Andrew; Colangeli, Luigi; Corral van Damme, Carlos; Da Deppo, Vania; De Keyser, Johan; Della Corte, Vincenzo; Edberg, Niklas; El-Maarry, Mohamed Ramy; Faggi, Sara; Fulle, Marco; Funase, Ryu; Galand, Marina; Goetz, Charlotte; Groussin, Olivier; Guilbert-Lepoutre, Aurélie; Henri, Pierre; Kasahara, Satoshi; Kereszturi, Akos; Kidger, Mark; Knight, Matthew; Kokotanekova, Rosita; Kolmasova, Ivana; Kossacki, Konrad; Kührt, Ekkehard; Kwon, Yuna; La Forgia, Fiorangela; Levasseur-Regourd, Anny-Chantal; Lippi, Manuela; Longobardo, Andrea; Marschall, Raphael; Morawski, Marek; Muñoz, Olga; Näsilä, Antti; Nilsson, Hans; Opitom, Cyrielle; Pajusalu, Mihkel; Pommerol, Antoine; Prech, Lubomir; Rando, Nicola; Ratti, Francesco; Rothkaehl, Hanna; Rotundi, Alessandra; Rubin, Martin; Sakatani, Naoya; Sánchez, Joan Pau; Simon Wedlund, Cyril; Stankov, Anamarija; Thomas, Nicolas; Toth, Imre; Villanueva, Geronimo; Vincent, Jean-Baptiste; Volwerk, Martin; Wurz, Peter; Wielders, Arno; Yoshioka, Kazuo; Aleksiejuk, Konrad; Alvarez, Fernando; Amoros, Carine; Aslam, Shahid; Atamaniuk, Barbara; Baran, Jędrzej; Barciński, Tomasz; Beck, Thomas; Behnke, Thomas; Berglund, Martin; Bertini, Ivano; Bieda, Marcin; Binczyk, Piotr; Busch, Martin-Diego; Cacovean, Andrei; Capria, Maria Teresa; Carr, Chris; Castro Marín, José María; Ceriotti, Matteo; Chioetto, Paolo; Chuchra-Konrad, Agata; Cocola, Lorenzo; Colin, Fabrice; Crews, Chiaki; Cripps, Victoria; Cupido, Emanuele; Dassatti, Alberto; Davidsson, Björn J. R.; De Roche, Thierry; Deca, Jan; Del Togno, Simone; Dhooghe, Frederik; Donaldson Hanna, Kerri; Eriksson, Anders; Fedorov, Andrey; Fernández-Valenzuela, Estela; Ferretti, Stefano; Floriot, Johan; Frassetto, Fabio; Fredriksson, Jesper; Garnier, Philippe; Gaweł, Dorota; Génot, Vincent; Gerber, Thomas; Glassmeier, Karl-Heinz; Granvik, Mikael; Grison, Benjamin; Gunell, Herbert; Hachemi, Tedjani; Hagen, Christian; Hajra, Rajkumar; Harada, Yuki; Hasiba, Johann; Haslebacher, Nico; Herranz De La Revilla, Miguel Luis; Hestroffer, Daniel; Hewagama, Tilak; Holt, Carrie; Hviid, Stubbe; Iakubivskyi, Iaroslav; Inno, Laura; Irwin, Patrick; Ivanovski, Stavro; Jansky, Jiri; Jernej, Irmgard; Jeszenszky, Harald; Jimenéz, Jaime; Jorda, Laurent; Kama, Mihkel; Kameda, Shingo; Kelley, Michael S. P.; Klepacki, Kamil; Kohout, Tomáš; Kojima, Hirotsugu; Kowalski, Tomasz; Kuwabara, Masaki; Ladno, Michal; Laky, Gunter; Lammer, Helmut; Lan, Radek; Lavraud, Benoit; Lazzarin, Monica; Le Duff, Olivier; Lee, Qiu-Mei; Lesniak, Cezary; Lewis, Zoe; Lin, Zhong-Yi; Lister, Tim; Lowry, Stephen; Magnes, Werner; Markkanen, Johannes; Martinez Navajas, Ignacio; Martins, Zita; Matsuoka, Ayako; Matyjasiak, Barbara; Mazelle, Christian; Mazzotta Epifani, Elena; Meier, Mirko; Michaelis, Harald; Micheli, Marco; Migliorini, Alessandra; Millet, Aude-Lyse; Moreno, Fernando; Mottola, Stefano; Moutounaick, Bruno; Muinonen, Karri; Müller, Daniel R.; Murakami, Go; Murata, Naofumi; Myszka, Kamil; Nakajima, Shintaro; Nemeth, Zoltan; Nikolajev, Artiom; Nordera, Simone; Ohlsson, Dan; Olesk, Aire; Ottacher, Harald; Ozaki, Naoya; Oziol, Christophe; Patel, Manish; Savio Paul, Aditya; Penttilä, Antti; Pernechele, Claudio; Peterson, Joakim; Petraglio, Enrico; Piccirillo, Alice Maria; Plaschke, Ferdinand; Polak, Szymon; Postberg, Frank; Proosa, Herman; Protopapa, Silvia; Puccio, Walter; Ranvier, Sylvain; Raymond, Sean; Richter, Ingo; Rieder, Martin; Rigamonti, Roberto; Ruiz Rodriguez, Irene; Santolik, Ondrej; Sasaki, Takahiro; Schrödter, Rolf; Shirley, Katherine; Slavinskis, Andris; Sodor, Balint; Soucek, Jan; Stephenson, Peter; Stöckli, Linus; Szewczyk, Paweł; Troznai, Gabor; Uhlir, Ludek; Usami, Naoto; Valavanoglou, Aris; Vaverka, Jakub; Wang, Wei; Wang, Xiao-Dong; Wattieaux, Gaëtan; Wieser, Martin; Wolf, Sebastian; Yano, Hajime; Yoshikawa, Ichiro; Zakharov, Vladimir; Zawistowski, Tomasz; Zuppella, Paola; Rinaldi, Giovanna; Ji, Hantao

Space Science Reviews. 220(1)

Rozevska M; Institute of Oncology and Molecular Genetics, Riga Stradiņš University, Riga, Latvia.; Children's Clinical University Hospital, Riga, Latvia.; Daila Neiburga-Vigante K; Riga Stradiņš University, Riga, Latvia.; University of Tartu, Tartu, Estonia.; Nartisa I; Institute of Oncology and Molecular Genetics, Riga Stradiņš University, Riga, Latvia.; Children's Clinical University Hospital, Riga, Latvia.; Lucane Z; Riga Stradiņš University, Riga, Latvia.; Pauls Stradiņš Clinical University Hospital, Center of Clinical Immunology and Allergology, Riga, Latvia.; Ozola L; Children's Clinical University Hospital, Riga, Latvia.; Riga Stradiņš University, Riga, Latvia.; Bardina L; Children's Clinical University Hospital, Riga, Latvia.; Riga Stradiņš University, Riga, Latvia.; Jaunalksne I; Pauls Stradiņš Clinical University Hospital, Center of Clinical Immunology and Allergology, Riga, Latvia.; Gerula N; Pauls Stradiņš Clinical University Hospital, Center of Clinical Immunology and Allergology, Riga, Latvia.; Krike P; The Faculty of Medicine and Life Sciences, University of Latvia, Riga, Latvia.; Riga East University Hospital, Riga, Latvia.; Taurina G; Children's Clinical University Hospital, Riga, Latvia.; Nokalna-Spale I; Children's Clinical University Hospital, Riga, Latvia.; Riga Stradiņš University, Riga, Latvia.; Pauls Stradiņš Clinical University Hospital, Center of Clinical Immunology and Allergology, Riga, Latvia.; Micule I; Children's Clinical University Hospital, Riga, Latvia.; Vilne B; Riga Stradiņš University, Riga, Latvia.; Kisand K; University of Tartu, Tartu, Estonia.; Pajusalu S; University of Tartu, Tartu, Estonia.; Tartu University Hospital, Tartu, Estonia.; Gailite L; Institute of Oncology and Molecular Genetics, Riga Stradiņš University, Riga, Latvia.; Rots D; Institute of Oncology and Molecular Genetics, Riga Stradiņš University, Riga, Latvia.; Children's Clinical University Hospital, Riga, Latvia.; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, Netherlands.; Kurjane N; Institute of Oncology and Molecular Genetics, Riga Stradiņš University, Riga, Latvia.; Children's Clinical University Hospital, Riga, Latvia.; Pauls Stradiņš Clinical University Hospital, Center of Clinical Immunology and Allergology, Riga, Latvia.

Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

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

JCI Insight, Vol 8, Iss 21 (2023)

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

The Journal of Clinical Investigation, Vol 133, Iss 7 (2023)

Koczwara, K.; Lake, N.; Huang, S.; DeSimone, A.; Pajusalu, S.; Branford, K.; Hallak, D.; Woodman, K.; Xu, J.; Lek, A.; Best, H.; Habib, A.; Avelar, J.; Martin, V.; Mozaffar, T.; Shieh, P.; Weisleder, N.; Lek, M.

Neuromuscular Disorders. 33:S138-S138

Pajusalu S; Genetics and Personalized Medicine Clinic, Tartu University Hospital, L. Puusepa Street 2, Tartu, Estonia.; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, L. Puusepa Street 2, Tartu, Estonia.; Vals MA; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, L. Puusepa Street 2, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, N. Lunini Street 6, Tartu, Estonia.; Serrano M; Pediatric Neurology Department and Clinical Biochemistry and Genetics Units, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; Witters P; Department of Paediatrics, Metabolic Disease Center, University Hospitals Leuven, Leuven, Belgium.; Department of Development and Regeneration, Faculty of Medicine, KU Leuven, Leuven, Belgium.; Cechova A; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Honzik T; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Edmondson AC; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Pennsylvania, USA.; Ficicioglu C; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Pennsylvania, USA.; Barone R; Child Neuropsychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy.; De Lonlay P; Reference Center for Inborn Errors of Metabolism, Necker Hospital, APHP, University of Paris, Inserm UMR_S1163, INEM, and Institut Imagine, Filière G2M, MetabERN, Paris, France.; Bérat CM; Biochemistry and Genetics Department, Bichat-Claude Bernard Hospital, AP-HP, University of Paris and Inserm U1149, Paris, France.; Vuillaumier-Barrot S; Biochemistry and Genetics Department, Bichat-Claude Bernard Hospital, AP-HP, University of Paris and Inserm U1149, Paris, France.; Lam C; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.; Patterson MC; Departments of Neurology and Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Janssen MCH; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, Netherlands.; Martins E; Centro de Genética Médica, Centro Hospitalar Universitário de Santo António, Porto, Portugal.; Quelhas D; Centro de Genética Médica, Centro Hospitalar Universitário de Santo António, Porto, Portugal.; Sykut-Cegielska J; Department of Inborn Errors of Metabolism and Paediatrics, The Institute of Mother and Child, Warsaw, Poland.; Mousa J; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Urreizti R; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; McWilliams P; Glycomine, Inc., San Francisco, California, USA.; Vernhes F; Glycomine, Inc., San Francisco, California, USA.; Plotkin H; Glycomine, Inc., San Francisco, California, USA.; Morava E; Departments of Neurology and Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.; Department of Genetics and Genomics Sciences, Icahn School of Medicine at Mount Sinai, New York City, New York, USA.; Õunap K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, L. Puusepa Street 2, Tartu, Estonia.; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, L. Puusepa Street 2, Tartu, Estonia.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Nambot S; Faivre L; Mirzaa G; Thevenon J; Bruel AL; Mosca-Boidron AL; Masurel-Paulet A; Goldenberg A; Le Meur N; Charollais A; Mignot C; Petit F; Rossi M; Metreau J; Layet V; Amram D; Boute-Bénéjean O; Bhoj E; Cousin MA; Kruisselbrink TM; Lanpher BC; Klee EW; Fiala E; Grange DK; Meschino WS; Hiatt SM; Cooper GM; Olivié H; Smith WE; Dumas M; Lehman A; CAUSES Study; Inglese C; Nizon M; Guerrini R; Vetro A; Kaplan ES; Miramar D; Van Gils J; Fergelot P; Bodamer O; Herkert JC; Pajusalu S; Õunap K; Filiano JJ; Smol T; Piton A; Gérard B; Chantot-Bastaraud S; Bienvenu T; Li D; Juusola J; Devriendt K; Bilan F; Poé C; Chevarin M; Jouan T; Tisserant E; Rivière JB; Tran Mau-Them F; Philippe C; Duffourd Y; Dobyns WB; Hevner R; Thauvin-Robinet C

European Journal of Human Genetics. 28:770-782

Monika Oláhová; Bradley Peter; Zsolt Szilagyi; Hector Diaz-Maldonado; Meenakshi Singh; Ewen W. Sommerville; Emma L. Blakely; Jack J. Collier; Emily Hoberg; Viktor Stránecký; Hana Hartmannová; Anthony J. Bleyer; Kim L. McBride; Sasigarn A. Bowden; Zuzana Korandová; Alena Pecinová; Hans-Hilger Ropers; Kimia Kahrizi; Hossein Najmabadi; Mark A. Tarnopolsky; Lauren I. Brady; K. Nicole Weaver; Carlos E. Prada; Katrin Õunap; Monica H. Wojcik; Sander Pajusalu; Safoora B. Syeda; Lynn Pais; Elicia A. Estrella; Christine C. Bruels; Louis M. Kunkel; Peter B. Kang; Penelope E. Bonnen; Tomáš Mráček; Stanislav Kmoch; Gráinne S. Gorman; Maria Falkenberg; Claes M. Gustafsson; Robert W. Taylor

Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)

Konrad, Enrico D. H.; Nardini, Niels; Caliebe, Almuth; Nagel, Inga; Young, Dana; Horvath, Gabriella; Santoro, Stephanie L.; Shuss, Christine; Ziegler, Alban; Bonneau, Dominique; Kempers, Marlies; Pfundt, Rolph; Legius, Eric; Bouman, Arjan; Stuurman, Kyra E.; Õunap, Katrin; Pajusalu, Sander; Wojcik, Monica H.; Vasileiou, Georgia; Le Guyader, Gwenaël; Schnelle, Hege M.; Berland, Siren; Zonneveld-Huijssoon, Evelien; Kersten, Simone; Gupta, Aditi; Blackburn, Patrick R.; Ellingson, Marissa S.; Ferber, Matthew J.; Dhamija, Radhika; Klee, Eric W.; McEntagart, Meriel; Lichtenbelt, Klaske D.; Kenney, Amy; Vergano, Samantha A.; Abou Jamra, Rami; Platzer, Konrad; Ella Pierpont, Mary; Khattar, Divya; Hopkin, Robert J.; Martin, Richard J.; Jongmans, Marjolijn C. J.; Chang, Vivian Y.; Martinez-Agosto, Julian A.; Kuismin, Outi; Kurki, Mitja I.; Pietiläinen, Olli; Palotie, Aarno; Maarup, Timothy J.; Johnson, Diana S.; Venborg Pedersen, Katja; Laulund, Lone W.; Lynch, Sally A.; Blyth, Moira; Prescott, Katrina; Canham, Natalie; Ibitoye, Rita; Brilstra, Eva H.; Shinawi, Marwan; Fassi, Emily; Sticht, Heinrich; Gregor, Anne; Van Esch, Hilde; Zweier, Christiane

Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(12):2723-2733