학술논문
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'학술논문'
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1~20
Academic Journal
Claudia M. Bonardi; Rikke S. Møller; Nuria Ruiz-Reig; Guoliang Chai; Camilla G. Madsen; Allan Bayat; Trine B. Hammer; Christina D. Fenger; Elena Gardella; Pawel Gawlinski; Mateusz Dawidziuk; Wojciech Wiszniewski; Monika Bekiesinska-Figatowska; Sara Cabet; Massimiliano Rossi; Gaetan Lesca; Evan Gouy; Birgit Jepsen; Tomasz S. Mieszczanek; Rossana Sanchez Russo; Eileen E. Barr; Katrin Õunap; Pilvi Ilves; Monica H. Wojcik; Mohamed Aittaleb; Klaus Brusgaard; Fadel Tissir; Guido Rubboli
Nature Communications, Vol 17, Iss 1, Pp 1-18 (2026)
Academic Journal
Estevez-Arias, Berta; Sarv, Siiri; Bonello-Palot, Nathalie; Carrera-Garcia, Laura; Ortez, Carlos; Exposito-Escudero, Jesica; Yubero, Delia; Muchart, Jordi; Delmont, Emilien; oiglane-Shlik, Eve; Meren, Teele; Puusepp, Sanna; Murumets, Ulle; Salomons, Gajja S.; Udd, Bjarne; Vali, Liis; Cantarero, Lara; Bonnemann, Carsten G.; Nascimento, Andres; Ramon-Maiques, Santiago; Ounap, Katrin; Hoenicka, Janet; Natera-de Benito, Daniel; Palau, Francesc
Academic Journal
Kaisa T. Oja; Mihkel Ilisson; Karit Reinson; Kai Muru; Tiia Reimand; Hedi Peterson; Dmytro Fishman; Toomas Haller; Jaanika Kronberg; Estonian Biobank Research Team; Monica H. Wojcik; Adam D. Kennedy; Laura Sommerville; Gregory Michelotti; Anne O’Donnell-Luria; Eve Õiglane-Shlik; Sander Pajusalu; Katrin Õunap
Frontiers in Neurology, Vol 16 (2025)
Academic Journal
Weixiong He; Peter J. van der Most; Jue-Sheng Ong; Liang-Dar Hwang; Yeda Wu; Morten S. Magnø; Jelle Vehof; Kristi Krebs; Laura Mauring; Katrin Õunap; Erik Abner; Nicholas G. Martin; Denis Plotnikov; Chen Jiang; Ronald B. Melles; Puya Gharahkhani; Harold Snieder; Teele Palumaa; Kuldar Kaljurand; Jeremy A. Guggenheim; David A. Mackey; Elizabeth C. Engle; Hélène Choquet; Lifelines Cohort Study; Stuart MacGregor
Nature Communications, Vol 16, Iss 1, Pp 1-14 (2025)
Academic Journal
Planas-Serra, Laura ; Rodríguez-Ruiz, Mar ; Anderson, Eric Nathaniel ; Rodríguez-Palmero, Agustí ; Vélez-Santamaria, Valentina ; Schlüter, Agatha ; Verdura, Edgard ; Gereñu, Gorka ; Jiménez-Zúñiga, Andrés ; Iñañez, Alejandro ; Casas, Josefina ; Bech, Joan Josep ; De La Torre, Carolina ; Martínez, Juan José ; Ruiz, Montserrat ; Fourcade, Stéphane ; Iascone, Maria ; Tenconi, Romano ; Meier, Kolja ; Diegmann, Susann ; Lee, Reagan H.C. ; Beland, Bakht ; Mir, Asif ; Darvish, Hossein ; Chung, Wendy ; Karimiani, Ehsan Ghayoor ; Leal, Suzanne M. ; Schrauwen, Isabelle ; Öhman, Susanna ; Järvelä, Irma ; Granvik, Johanna ; Reinson, Karit ; Kurvinen, Elvira ; Õunap, Katrin ; Schwan, Annemarie ; Platzer, Konrad ; Kalayci, Tuğba ; Sharifi, Shahrashoub ; Korenke, G. Christoph ; Houlden, Henry ; Maroofian, Reza ; López de Munaín, Adolfo ; Casasnovas, Carlos ; Pandey, Udai Bhan ; Pujol, Aurora
In The American Journal of Human Genetics 6 November 2025 112(11):2643-2664
Academic Journal
Edmondson, Andrew C. ; Honzík, Tomáš ; Lam, Christina ; Õunap, Katrin ; McWilliams, Peter ; Morava, Eva
In Molecular Genetics and Metabolism September-October 2025 146(1-2)
Academic Journal
Talarico, Mariagrazia ; de Bellescize, Julitta ; De Wachter, Matthias ; Le Guillou, Xavier ; Le Meur, Guylène ; Egloff, Matthieu ; Isidor, Bertrand ; Cogné, Benjamin ; Beysen, Diane ; Rollier, Paul ; Fradin, Melanie ; Pasquier, Laurent ; Guella, Ilaria ; Hickey, Scott E. ; Benke, Paul J. ; Shillington, Amelle ; Kumps, Candy ; Vanakker, Olivier ; Gerkes, Erica H. ; Lakhani, Shenela ; Romanova, Irina ; Kanivets, Ilya ; Brugger, Melanie ; Vill, Katharina ; Caylor, Raymond C. ; Skinner, Cindy ; Tinker, Rory J. ; Stödberg, Tommy ; Nümann, Astrid ; Haack, Tobias B. ; Deininger, Natalie ; Hengel, Holger ; Jury, Jeanne ; Conrad, Solène ; Mercier, Sandra ; Yoon, Grace ; Tsuboyama, Melissa ; Barcia, Giulia ; Gitiaux, Cyril ; Rio, Marlène ; Bevot, Andrea ; Redon, Sylvia ; Uguen, Kevin ; Wonneberger, Antje ; Schulz, Alexander ; Timmann, Dagmar ; Karlowicz, Danielle Hays ; Chatron, Nicolas ; Carnevale, Amanda ; Mahida, Sonal ; Õunap, Katrin ; Kury, Sébastien ; Cabet, Sara ; Lesca, Gaetan
In Genetics in Medicine April 2025 27(4)
Academic Journal
Weisburd, Ben ; Sharma, Rakshya ; Pata, Villem ; Reimand, Tiia ; Ganesh, Vijay S. ; Austin-Tse, Christina ; Osei-Owusu, Ikeoluwa ; O’Heir, Emily ; O’Leary, Melanie ; Pais, Lynn ; Stafki, Seth A. ; Daugherty, Audrey L. ; Folland, Chiara ; Peric, Stojan ; Fahmy, Nagia ; Udd, Bjarne ; Horáková, Magda ; Łusakowska, Anna ; Manoj, Rajanna ; Nalini, Atchayaram ; Karcagi, Veronika ; Polavarapu, Kiran ; Lochmüller, Hanns ; Horvath, Rita ; Bönnemann, Carsten G. ; Donkervoort, Sandra ; Haliloğlu, Göknur ; Herguner, Ozlem ; Kang, Peter B. ; Ravenscroft, Gianina ; Laing, Nigel ; Scott, Hamish S. ; Töpf, Ana ; Straub, Volker ; Pajusalu, Sander ; Õunap, Katrin ; Tiao, Grace ; Rehm, Heidi L. ; O’Donnell-Luria, Anne
In Genetics in Medicine April 2025 27(4)
Academic Journal
Vos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle K. M.; Rooney, Kathleen; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Maas, Saskia M.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.; Pfundt, Rolph; Elting, Mariet W.; van Hagen, Johanna M.; Verbeek, Nienke E.; Jongmans, Marjolijn C. J.; Lakeman, Phillis; Rumping, Lynne; Bosch, Danielle G. M.; Vitobello, Antonio; Thauvin-Robinet, Christel; Faivre, Laurence; Nambot, Sophie; Garde, Aurore; Willems, Marjolaine; Genevieve, David; Nicolas, Gaël; Busa, Tiffany; Toutain, Annick; Gérard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles E.; Ounap, Katrin; Hoffer, Mariëtte J. V.; Nezarati, Marjan M.; van den Boogaard, Marie-José H.; Tedder, Matthew L.; Rogers, Curtis; Brusco, Alfredo; Ferrero, Giovanni B.; Spodenkiewicz, Marta; Sidlow, Richard; Mussa, Alessandro; Trajkova, Slavica; McCann, Emma; Mroczkowski, Henry J.; Jansen, Sandra; Donker-Kaat, Laura; Duijkers, Floor A. M.; Stuurman, Kyra E.; Mannens, Marcel M. A. M.; Alders, Mariëlle; Henneman, Peter; White, Susan M.; Sadikovic, Bekim; van Haelst, Mieke M.
Human Genetics. 143(6):761-773
Academic Journal
Nou-fontanet, Laia; Ravelli, Claudia; Burglen, Lydie; Balsells Mejia, Sol; Valls-villalba, Angel; Schiffels, Elies Roman; Innocenti, Alice; Villafuerte, Beatriz; Salazar-villacorta, Ainara; Quiroz, Vicente; Sariego Jamardo, Andrea; Bonato, Giulia; Diaz-gomez, Asun; Afenjar, Alexandra; Vilain, Catheline; da Silva Moller, Patricia Dumke; Garcia-navas Nunez, Deyanira; Krygier, Magdalena; Molnar, Maria Judit; Milanowski, Lukasz; Ounap, Katrin; Pauni, Micaela; Vega, Patricia; Borie, Raphael; Villamil-osorio, Milena; Yilmaz, Sanem; Zadori, Denes; Zawadzka, Marta; Barakat, Tahsin Stefan; Neuens, Sebastian; De Natera-de Benito, Daniel; Casas-alba, Didac; Soliani, Luca; de Gusmao, Claudio M.; Garone, Giacomo; Specchio, Nicola; Carecchio, Miryam; Moreno, Jose C.; Magrinelli, Francesca; Bhatia, Kailash P.; Ebrahimi-fakhari, Darius; Castiglioni, Claudia; Kurian, Manju Ann; Carvalho, Joao Nuno; Pons, Roser; Roze, Emmanuel; Doummar, Diane; Ortigoza-escobar, Juan Dario
Academic Journal
Deborah J. G. Mackay; Gabriella Gazdagh; David Monk; Frederic Brioude; Eloise Giabicani; Izabela M. Krzyzewska; Jennifer M. Kalish; Saskia M. Maas; Masayo Kagami; Jasmin Beygo; Tiina Kahre; Jair Tenorio-Castano; Laima Ambrozaitytė; Birutė Burnytė; Flavia Cerrato; Justin H. Davies; Giovanni Battista Ferrero; Olga Fjodorova; Africa Manero-Azua; Arrate Pereda; Silvia Russo; Pierpaola Tannorella; Karen I. Temple; Katrin Õunap; Andrea Riccio; Guiomar Perez de Nanclares; Eamonn R. Maher; Pablo Lapunzina; Irène Netchine; Thomas Eggermann; Jet Bliek; Zeynep Tümer
Clinical Epigenetics, Vol 16, Iss 1, Pp 1-19 (2024)
Academic Journal
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 ; Bönnemann, Carsten G. ; Gallacher, Lyndon ; Stark, Zornitza ; Tan, Tiong Yang ; White, Susan M. ; Töpf, Ana ; Straub, Volker ; Fleming, Mark D. ; Pollak, Martin R. ; Õunap, 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
In The American Journal of Human Genetics 2 May 2024 111(5):863-876
Academic Journal
Gomez-Andres, David; Costa-Comellas, Laura; Diaz-Manera, Jordi; Ounap, Katrin; Alvarez-Molinero, Mireia; Urcuyo, Gabriela; Savarese, Marco; Munell, Francina; Udd, Bjarne
Academic Journal
Küry, Sébastien ; Zhang, Jinwei ; Besnard, Thomas ; Caro-Llopis, Alfonso ; Zeng, Xue ; Robert, Stephanie M. ; Josiah, Sunday S. ; Kiziltug, Emre ; Denommé-Pichon, Anne-Sophie ; Cogné, Benjamin ; Kundishora, Adam J. ; Hao, Le T. ; Li, Hong ; Stevenson, Roger E. ; Louie, Raymond J. ; Deb, Wallid ; Torti, Erin ; Vignard, Virginie ; McWalter, Kirsty ; Raymond, F. Lucy ; Rajabi, Farrah ; Ranza, Emmanuelle ; Grozeva, Detelina ; Coury, Stephanie A. ; Blanc, Xavier ; Brischoux-Boucher, Elise ; Keren, Boris ; Õunap, Katrin ; Reinson, Karit ; Ilves, Pilvi ; Wentzensen, Ingrid M. ; Barr, Eileen E. ; Guihard, Solveig Heide ; Charles, Perrine ; Seaby, Eleanor G. ; Monaghan, Kristin G. ; Rio, Marlène ; van Bever, Yolande ; van Slegtenhorst, Marjon ; Chung, Wendy K. ; Wilson, Ashley ; Quinquis, Delphine ; Bréhéret, Flora ; Retterer, Kyle ; Lindenbaum, Pierre ; Scalais, Emmanuel ; Rhodes, Lindsay ; Stouffs, Katrien ; Pereira, Elaine M. ; Berger, Sara M. ; Milla, Sarah S. ; Jaykumar, Ankita B. ; Cobb, Melanie H. ; Panchagnula, Shreyas ; Duy, Phan Q. ; Vincent, Marie ; Mercier, Sandra ; Gilbert-Dussardier, Brigitte ; Le Guillou, Xavier ; Audebert-Bellanger, Séverine ; Odent, Sylvie ; Schmitt, Sébastien ; Boisseau, Pierre ; Bonneau, Dominique ; Toutain, Annick ; Colin, Estelle ; Pasquier, Laurent ; Redon, Richard ; Bouman, Arjan ; Rosenfeld, Jill. A. ; Friez, Michael J. ; Pérez-Peña, Helena ; Akhtar Rizvi, Syed Raza ; Haider, Shozeb ; Antonarakis, Stylianos E. ; Schwartz, Charles E. ; Martínez, Francisco ; Bézieau, Stéphane ; Kahle, Kristopher T. ; Isidor, Bertrand
In Genetics in Medicine September 2022 24(9):1941-1951
Academic Journal
Estevez-Arias, Berta; Sarv, Siiri; Bonello-Palot, Nathalie; Carrera-Garcia, Laura; Ortez, Carlos; Exposito-Escudero, Jesica; Yubero, Delia; Muchart, Jordi; Delmont, Emilien; oiglane-Shlik, Eve; Meren, Teele; Puusepp, Sanna; Murumets, Ulle; Salomons, Gajja S.; Udd, Bjarne; Vali, Liis; Cantarero, Lara; Bonnemann, Carsten G.; Nascimento, Andres; Ramon-Maiques, Santiago; Ounap, Katrin; Hoenicka, Janet; Natera-de Benito, Daniel; Palau, Francesc
Academic Journal
David A. Dyment; Anne O'Donnell‐Luria; Pankaj B. Agrawal; Zeynep Coban Akdemir; Kyrieckos A. Aleck; Danny Antaki; Hind Al Sharhan; Ping‐Yee B. Au; Hatip Aydin; Alan H. Beggs; Kaya Bilguvar; Eric Boerwinkle; Harrison Brand; Catherine A. Brownstein; Steve Buyske; Bernard Chodirker; Jungmin Choi; Albert E. Chudley; Carol L. Clericuzio; Gerald F. Cox; Cynthia Curry; Elke de Boer; Bert B. A. de Vries; Kathryn Dunn; Cullen M. Dutmer; Eleina M. England; Jill A. Fahrner; Bilgen B. Geckinli; Casie A. Genetti; Alper Gezdirici; William T. Gibson; Joseph G. Gleeson; Cheryl R. Greenberg; April Hall; Ada Hamosh; Taila Hartley; Shalini N. Jhangiani; Ender Karaca; Kristin Kernohan; Julie L. Lauzon; M. E. Suzanne Lewis; R. Brian Lowry; Francesc López‐Giráldez; Tara C. Matise; Jennifer McEvoy‐Venneri; Brenda McInnes; Aziz Mhanni; Sixto Garcia Minaur; Jukka Moilanen; An Nguyen; Malgorzata J. M. Nowaczyk; Jennifer E. Posey; Katrin Õunap; Davut Pehlivan; Sander Pajusalu; Lynette S. Penney; Timothy Poterba; Paolo Prontera; Maria Juliana Rodovalho Doriqui; Sarah L. Sawyer; Nara Sobreira; Valentina Stanley; Deniz Torun; David Wargowski; P. Dane Witmer; Isaac Wong; Jinchuan Xing; Maha S. Zaki; Yeting Zhang; Kym M. Boycott; Michael J. Bamshad; Deborah A. Nickerson; Elizabeth E. Blue; A. Micheil Innes
American Journal of Medical Genetics Part A. 185:119-133
Academic Journal
Bianca Panis; E. Naomi Vos; Ivo Barić; Annet M. Bosch; Martijn C. G. J. Brouwers; Alberto Burlina; David Cassiman; David J. Coman; María L. Couce; Anibh M. Das; Didem Demirbas; Aurélie Empain; Matthias Gautschi; Olga Grafakou; Stephanie Grunewald; Sandra D. K. Kingma; Ina Knerr; Elisa Leão-Teles; Dorothea Möslinger; Elaine Murphy; Katrin Õunap; Adriana Pané; Sabrina Paci; Rossella Parini; Isabel A. Rivera; Sabine Scholl-Bürgi; Ida V. D. Schwartz; Triantafyllia Sdogou; Loai A. Shakerdi; Anastasia Skouma; Karolina M. Stepien; Eileen P. Treacy; Susan Waisbren; Gerard T. Berry; M. Estela Rubio-Gozalbo
Frontiers in Genetics, Vol 15 (2024)
Academic Journal
Das, Sankalita Ray; Sullivan, Rosie; Ruegg, Mischa S. G.; Horsfield, Julia; Doran, Jordan; Poke, Gemma; de Vries, Nathalie; Duerinckx, Sarah; Lederer, Damien; Haniffa, Muzhirah; Keng, Wee-Teik; Ch'ng, Gaik-Siew; Parry, David A.; Jackson, Andrew P.; Sakamoto, Masamune; Matsumoto, Naomichi; Miyake, Noriko; Nabatame, Shin; Taniguchi, Hidetoshi; Wakeling, Emma; Deciphering Dev Disorders Study, Deciphering Developmental Disorders Study; Ounap, Katrin; Ilves, Pilvi; Mirzaa, Ghayda; Timms, Andrew; Pao, Emily; Aldinger, Kimberly A.; Dobyns, William; Bohring, Axel; Behre, Beate; Calame, Daniel G.; Lupski, James R.; Pascual, Juan M.; Abramowicz, Marc; Gimenez, Gregory; Bicknell, Louise S.
Academic Journal
Fassad, Mahmoud R.; Valenzuela, Sebastian; Olahova, Monika; Collier, Jack J.; Knowles, Charlotte V. Y.; Mavraki, Eleni; Elbracht, Miriam; Guezel, Nergis; Herberhold, Thomas; Kurth, Ingo; Maier, Andrea; Mattern, Larissa; Saunders, Carol; McCullagh, Helen; Ounap, Katrin; Wortmann, Saskia B.; Reis, Andre; Zhang, Lei; Gustafsson, Claes M.; McFarland, Robert; Taylor, Robert W.
Academic Journal
Elis Tiivoja; Karit Reinson; Kai Muru; Kristi Rähn; Kristina Muhu; Laura Mauring; Tiina Kahre; Sander Pajusalu; Katrin Õunap
JIMD Reports, Vol 63, Iss 6, Pp 604-613 (2022)
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