부산대학교 도서관

Stavrén-Eriksson, Elin; Hammarsjö, Anna; Lindstrand, Anna; Nordgren, Ann; Grigelioniene, Giedre; Pigg, Maritta Hellström

Clinical Genetics. 108(2):199-205

Malmgren H; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Kvarnung M; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Gustafsson P; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Anderlid BM; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Arthur C; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Carlsten J; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; De Geer K; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Ehn E; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Grigelioniené G; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Hammarsjö A; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Helgadottir HT; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Hellström-Pigg M; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Iwarsson E; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Kuchinskaya E; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Lindelöf H; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Mannila M; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Nilsson D; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Science for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Pettersson M; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Rudd E; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Sahlin E; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Tesi B; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Tham E; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Thonberg H; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Westenius E; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Winberg J; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Winerdal M; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Nordenskjöld M; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Johansson-Soller M; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Wirta V; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Genomic Medicine Centre Karolinska, Karolinska University Hospital, Stockholm, Sweden.; Nordgren A; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Lindstrand A; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Lagerstedt-Robinson K; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Henry, OJ; Pacheco, NP; Duba, I; Burstedt, M; Carlberg, D; Delgado-Vega, AM; Hammarsjö, A; Ivarsson, S; Jonson, T; Karrman, K

medRxiv.

Lindelöf H; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Hammarsjö A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Voss U; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Pediatric Radiology, Karolinska University Hospital, Stockholm, Sweden.; Gaetana Piticchio S; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Protein Dynamics and Mutation lab, Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.; Conner P; Center for Fetal Medicine, Karolinska University Hospital, Stockholm, Sweden.; Papadogiannakis N; Department of Laboratory Medicine, Division of Pathology, Karolinska Institutet, Stockholm, Sweden.; Batkovskyte D; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Orellana L; Protein Dynamics and Mutation lab, Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.; Kvarnung M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Malmgren H; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Lagerstedt Robinson K; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Nordgren A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Lindstrand A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Nishimura G; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan.; Grigelioniene G; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. giedre.grigelioniene@ki.se.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden. giedre.grigelioniene@ki.se.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Nakajima, E; Yokohama, Y; Sugiyama, S; Taketazu, M; Mitsube, K; Yamada, T; Hammarsjoe, A; Grigelioniene, G; Nishimura, G; Makita, Y

HUMAN GENOME VARIATION. 11(1)

Lindstrand, A; Ek, M; Kvarnung, M; Anderlid, B-M; Bjoerck, E; Carlsten, J; Eisfeldt, J; Grigelioniene, G; Gustavsson, P; Hammarsjoe, A

GENETICS IN MEDICINE. 24(11):2296-2307

Batkovskyte D; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Komatsu M; Department of Gynecology and Obstetrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.; Hammarsjö A; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Pooh R; Fetal Diagnostic Center, CRIFM Prenatal Medical Clinic, Osaka, Japan.; Department of Clinical Research, Ritz Medical Co., Ltd., Osaka, Japan.; Shimokawa O; Department of Clinical Research, Ritz Medical Co., Ltd., Osaka, Japan.; Ikegawa S; Japan Skeletal Dysplasia Consortium, Tokyo, Japan.; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.; Grigelioniene G; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Nishimura G; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Japan Skeletal Dysplasia Consortium, Tokyo, Japan.; Yamada T; Japan Skeletal Dysplasia Consortium, Tokyo, Japan.; Clinical Genetics Unit, Kyoto University Hospital, Kyoto, Japan.; Division of Clinical Genetics, Hokkaido University Hospital, Sapporo, Japan.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Hammarsjö, A.; Pettersson, M.; Chitayat, D.; Handa, A.; Anderlid, B. -M; Bartocci, M.; Basel, D.; Batkovskyte, D.; Beleza-Meireles, A.; Conner, P.; Eisfeldt, J.; Girisha, K. M.; Chung, B. H. -Y; Horemuzova, E.; Hyodo, H.; Korņejeva, L.; Lagerstedt-Robinson, K.; Lin, A. E.; Magnusson, M.; Moosa, S.; Nayak, S. S.; Nilsson, D.; Ohashi, H.; Ohashi-Fukuda, N.; Stranneheim, H.; Taylan, F.; Traberg, R.; Voss, U.; Wirta, Valtteri; Nordgren, A.; Nishimura, G.; Lindstrand, A.; Grigelioniene, G.

Journal of Human Genetics. 66(10):995-1008

Angelica Maria Delgado-Vega; Helene Cederroth; Fulya Taylan; Katja Ekholm; Marlene Ek; Håkan Thonberg; Anders Jemt; Daniel Nilsson; Jesper Eisfeldt; Kristine Bilgrav Saether; Ida Höijer; Ozlem Akgun-Dogan; Yui Asano; Tahsin Stefan Barakat; Dominyka Batkovskyte; Gareth Baynam; Olaf Bodamer; Wanna Chetruengchai; Pádraic Corcoran; Madeline Couse; Daniel Danis; German Demidov; Eisuke Dohi; Mattias Erhardsson; Luis Fernandez-Luna; Toyofumi Fujiwara; Neha Garg; Roberto Giugliani; Claudia Gonzaga-Jauregui; Giedre Grigelioniene; Tudor Groza; Cecilia Gunnarsson; Anna Hammarsjö; Charles Kumi Hammond; Özden Hatirnaz Ng; Sirisha Hesketh; Dineshani Hettiarachchi; Maria Johansson Soller; Umn Ahmed Kirmani; Martin Kjellberg; Malin Kvarnung; Oleg Kvlividze; Kristina Lagerstedt-Robinson; Paul Lasko; Timo Lassmann; Lynette Y. S. Lau; Steven Laurie; Weng Khong Lim; Zhandong Liu; Mariya Lysenkova Wiklander; Prince Makay; Alassane Baneye Maiga; Carolina Maya-González; M. Stephen Meyn; Ramprasad Neethiraj; Vincenzo Nigro; Felix Nordgren; Jessica Nordlund; Sara Orrsjö; Jesper Ottosson; Ugur Ozbek; Özkan Özdemir; Clyde Partin; David A. Pearce; Raquel Peck; Annie Pedersen; Maria Pettersson; Monnat Pongpanich; Manuel Posada de la Paz; Arun Ramani; Juan Andres Romero; Vanessa I. Romero; Richard Rosenquist; Aung Min Saw; Matthew Spencer; Eva-Lena Stattin; Chalurmpon Srichomthong; Isabel Tapia-Paez; Domenica Taruscio; Julie P. Taylor; Tinatin Tkemaladze; Ian Tully; Zeynep Tümer; Wendy A. G. van Zelst-Stams; Alain Verloes; Emma Västerviga; Sailan Wang; Rachel Yang; Shinya Yamamoto; Vicente A. Yépez; Qing Zhang; Vorasuk Shotelersuk; Samuel Agyei Wiafe; Yasemin Alanay; Lorenzo D. Botto; Salman Kirmani; Aimé Lumaka; Elizabeth Emma Palmer; Ratna Dua Puri; Valtteri Wirta; Anna Lindstrand; Orion J. Buske; Mikk Cederroth; Ann Nordgren

Nature Genetics, 56, 11, pp. 2287-2294

Kolbjer S; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm 17177, Sweden.; Department of Paediatric Neurology, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm 17176, Sweden.; Martín Muñoz DA; Department of Neuroradiology and Paediatric Radiology, Karolinska University Hospital, Stockholm 17176, Sweden.; Örtqvist AK; Clinical Epidemiology Division, Department of Medicine, Solna, Karolinska Institutet, Stockholm 17177, Sweden.; Department of Obstetrics and Gynaecology, Visby County Hospital, Visby 62155, Sweden.; Pettersson M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm 17177, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm 17176, Sweden.; Hammarsjö A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm 17177, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm 17176, Sweden.; Anderlid BM; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm 17177, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm 17176, Sweden.; Dahlin M; Department of Paediatric Neurology, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm 17176, Sweden.; Department of Women's and Children's Health, Karolinska Institutet, Stockholm 17177, Sweden.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

Krstic, A; Rezayee, F; Saft, L; Hammarsjoe, A; Svenberg, P; Barbany, G

FRONTIERS IN PEDIATRICS. 10

Pernille Axél Gregersen; Anna Hammarsjö; Lise Graversen; Nis Brix; Hillevi Lindelöf; Uffe Birk Jensen; Stense Farholt; Sune Rubak; Jesper Bjerre; Serena G. Piticchio; Thorkild Terkelsen; Gen Nishimura; Michel Bach Hellfritzsch; Giedre Grigelioniene

Clin Genet
Gregersen, P A, Hammarsjö, A, Graversen, L, Brix, N, Lindelöf, H, Jensen, U B, Farholt, S, Rubak, S, Bjerre, J, Piticchio, S G, Terkelsen, T, Nishimura, G, Hellfritzsch, M B & Grigelioniene, G 2025, 'Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect', Clinical Genetics, vol. 107, no. 1, pp. 78-82. https://doi.org/10.1111/cge.14616

Anna Lindstrand; Kristina Lagerstedt-Robinson; Anders Jemt; Malin Kvarnung; Sofia Ygberg; Sofie Vonlanthen; Mikael Oscarson; Daniel Nilsson; Nicole Lesko; Angelo Salazar Mantero; Britt Marie Anderlid; Henrik Arnell; Cecilia Arthur; Svetlana Bajalica Lagercrantz; Michela Barbaro; Peter Bergman; Erik Björck; Oda Blomqvist Picard; Helene Bruhn; Jonas Carlsten; Sandrina P. Correia; Karl De Geer; Angelica Delgado Vega; Emma Ehn; Jesper Eisfeldt; Marlene Ek; Ingegerd Elvers; Martin Engvall; Christoph Freyer; Sofia Frisk; Caroline Graff; Giedré Grigelioniené; Peter Gustafsson; Anna Hammarsjö; Hafdis T. Helgadottir; Maritta Hellström Pigg; Olivia J Henry; Moa Hägglund; Erik Iwarsson; Vincent Janvid; Maria Johansson Soller; Leif Karlsson; Ekaterina Kuchinskaya; Anders Kämpe; Anna Leinfelt; Agne Liedén; Hillevi Lindelöf; Anna Lyander; Helena Malmgren; Maria Mannila; Per Marits; Karin Naess; Ramprasad Neethiraj; Karl Nyren; Christoforos Pappas; Martin Paucar Arce; Nadja Pekkola Pacheco; Lucia Peña Perez; Maria Pettersson; Peter Pruisscher; Chiara Rasi; Annick Renevey; Sophia Rössner; Ellika Sahlin; Erik Stenund; Tommy Stödberg; Mikael Sundin; Karl Svärd; Bianca Tesi; Emma Tham; Håkan Thonberg; Virpi Töhönen; Malin Ueberschär; Karin Wallander; Eini Westenius; Johanna Winberg; Nerges Winblad; Josephine Wincent; Malin Winerdal; Anna Wredenberg; Anna Zetterlund; Rolf Zetterström; Ingegerd Öfverholm; Ann Nordgren; Henrik Stranneheim; Valtteri Wirta; Anna Wedell

Lindelöf H; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Horemuzova E; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Voss U; Department of Pediatric Radiology, Karolinska University Hospital, Stockholm, Sweden.; Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Grigelioniene G; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Hammarsjö A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE

Zhao, Sen; Zhang, Yuanqiang; Hallgrimsdottir, Sigrun; Zuo, Yuzhi; Li, Xiaoxin; Batkovskyte, Dominyka; Liu, Sen; Lindelöf, Hillevi; Wang, Shengru; Hammarsjö, Anna; Yang, Yang; Ye, Yongyu; Wang, Lianlei; Yan, Zihui; Lin, Jiachen; Yu, Chenxi; Chen, Zefu; Niu, Yuchen; Wang, Huizi; Zhao, Zhi; Liu, Pengfei; Qiu, Guixing; Posey, Jennifer E.; Wu, Zhihong; Lupski, James R.; Micule, Ieva; Anderlid, Britt-Marie; Voss, Ulrika; Sulander, Dennis; Kuchinskaya, Ekaterina; Nordgren, Ann; Nilsson, Ola, 1970; Zhang, Terry Jianguo; Grigelioniene, Giedre; Wu, Nan

NPJ genomic medicine. 7(1)

Batkovskyte D; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Swolin-Eide D; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Department of Pediatrics, Region Västra Götaland, Sahlgrenska University Hospital, Queen Silvia Children's Hospital, Gothenburg, Sweden.; Hammarsjö A; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Sæther KB; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Thunström S; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Internal Medicine and Clinical Nutrition, Institution of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Lundin J; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Eisfeldt J; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Lindstrand A; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Nordgren A; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.; Åström E; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.; Department of Pediatric Neurology, Karolinska University Hospital, Stockholm, Sweden.; Grigelioniene G; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Batkovskyte, D.; McKenzie, F.; Taylan, F.; Simsek-Kiper, P. O.; Nikkel, S. M.; Ohashi, H.; Stevenson, R. E.; Ha, T.; Cavalcanti, D. P.; Miyahara, H.; Skinner, S. A.; Aguirre, M. A.; Akcoeren, Z.; Utine, G. E.; Chiu, T.; Shimizu, K.; Hammarsjoe, A.; Boduroglu, K.; Moore, H. W.; Louie, R. J.; Arts, P.; Merrihew, A. N.; Babic, M.; Jackson, M. R.; Papadogiannakis, N.; Lindstrand, A.; Nordgren, Ann, 1964; Barnett, C. P.; Scott, H. S.; Chagin, Andrei S., 1976; Nishimura, G.; Grigelioniene, G.

Journal of Bone and Mineral Research. 38(5):692-706

Matalonga, Leslie; Hernández-Ferrer, Carles; DITF-ITHACA, Solve-RD; Verloes, Alain; Vissers, Lisenka; Vitobello, Antonio; Votypka, Pavel; Vyshka, Klea; Zurek, Birte; Baets, Jonathan; Beijer, Danique; Bonne, Gisèle; Cohen, Enzo; DITF-euroNMD, Solve-RD; Cossins, Judith; Evangelista, Teresinha; Ferlini, Alessandra; Hackman, Peter; Hanna, Michael G; Horvath, Rita; Houlden, Henry; Johari, Mridul; Lau, Jarred; Lochmüller, Hanns; DITF-RND, Solve-RD; Macken, William L; Musacchia, Francesco; Nascimento, Andres; Natera-de Benito, Daniel; Nigro, Vincenzo; Piluso, Giulio; Pini, Veronica; Pitceathly, Robert D S; Polavarapu, Kiran; Cruz, Pedro M Rodriguez; Tonda, Raul; Sarkozy, Anna; Savarese, Marco; Selvatici, Rita; Thompson, Rachel; Udd, Bjarne; Van de Vondel, Liedewei; Vandrovcova, Jana; Zaharieva, Irina; Balicza, Peter; Laurie, Steven; Chinnery, Patrick; Dürr, Alexandra; Haack, Tobias; Hengel, Holger; Kamsteeg, Erik-Jan; Kamsteeg, Christoph; Lohmann, Katja; Macaya, Alfons; Marcé-Grau, Anna; Fernandez-Callejo, Marcos; Maver, Ales; Molnar, Judit; Münchau, Alexander; Peterlin, Borut; Riess, Olaf; Schöls, Ludger; Schüle-Freyer, Rebecca; Stevanin, Giovanni; Synofzik, Matthis; Timmerman, Vincent; Picó, Daniel; van de Warrenburg, Bart; van Os, Nienke; Wayand, Melanie; Wilke, Carlo; Haack, Tobias B; Graessner, Holm; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Garcia-Linares, Carles; Sturm, Marc; Schulze-Hentrich, Julia M; Schüle, Rebecca; Kessler, Christoph; Heutink, Peter; Brunner, Han; Scheffer, Hans; Papakonstantinou, Anastasios; Hoogerbrugge, Nicoline; 't Hoen, Peter A C; Steyaert, Wouter; Sablauskas, Karolis; Te Paske, Iris; Janssen, Erik; Steehouwer, Marloes; Yaldiz, Burcu; Corvó, Alberto; Brookes, Anthony J; Veal, Colin; Gibson, Spencer; Wadsley, Marc; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Straub, Volker; Piscia, Davide; Joshi, Ricky; Bettolo, Chiara Marini; Specht, Sabine; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Duffourd, Yannis; Tisserant, Emilie; Diez, Hector; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Bullich, Gemma; Gut, Ivo; Corvo, Alberto; Garcia, Carles; Hernández, Carles; Paramonov, Ida; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hoischen, Alexander; Hanauer, Marc; Olry, Annie; Lagorce, David; Havrylenko, Svitlana; Izem, Katia; Rigour, Fanny; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Allamand, Valérie; Nelson, Isabelle; Yaou, Rabah Ben; Metay, Corinne; Eymard, Bruno; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Kremlik, Vlastimil; Parkinson, Helen; Keane, Thomas; Consortium, Solve-RD; Spalding, Dylan; Senf, Alexander; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Reilly, Mary; Muntoni, Francesco; de Jonghe, Peter; Banfi, Sandro; Torella, Annalaura; Cuesta, Isabel; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A; Johansson, Lennart; van der Vries, Gerben; Neerincx, Pieter B; group, Solve-RD SNV-indel working; Denommé-Pichon, Anne-Sophie; Roelofs-Prins, Dieuwke; Köhler, Sebastian; Metcalfe, Alison; Rooryck, Caroline; Trimouille, Aurelien; Castello, Raffaele; Morleo, Manuela; Varavallo, Alessandra; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; de la Rosa, F Javier Alonso García; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Benetti, Elisa; Molnar, Maria Judit; Gilissen, Christian; Herzog, Rebecca; Pauly, Martje; Osorio, Andres Nascimiento; de Benito, Daniel Natera; Beeson, David; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas; Li, Shuang; Prasanth, Sivakumar; Robinson, Peter; van der Velde, Joeri K; de Voer, Richarda M; Evans, Gareth; Sommer, Anna Katharina; Töpf, Ana; Paske, Iris Te; Tischkowitz, Marc; Casari, Giorgio; Ciolfi, Andrea; Dallapiccola, Bruno; de Boer, Elke; Vissers, Lisenka E L M; Hammarsjö, Anna; Havlovicova, Marketa; Hugon, Anne; de Voer, Richarda; Kleefstra, Tjitske; Lindstrand, Anna; López-Martín, Estrella; Nigro, Vicenzo; Nordgren, Ann; Pettersson, Maria; Pinelli, Michele; Pizzi, Simone; DITF-GENTURIS, Solve-RD; Posada, Manuel; Ryba, Lukas; Schwarz, Martin; Trimouille, Aurélien

European journal of human genetics 29(9), 1466-1469 (2021). doi:10.1038/s41431-021-00934-6
Solve-RD SNV-indel working group, Solve-RD DITF-GENTURIS, Solve-RD DITF-ITHACA, Solve-RD DITF-euroNMD, Solve-RD-DITF-RND & The Solve-RD Consortium 2021, 'Correction to : Solving patients with rare diseases through programmatic reanalysis of genome-phenome data ', European Journal of Human Genetics, vol. 29, no. 9, pp. 1466-1469. https://doi.org/10.1038/s41431-021-00934-6

de Boer, Elke; Ockeloen, Charlotte W.; Matalonga, Leslie; Horvath, Rita; null, null; Cohen, Enzo; Cuesta, Isabel; Danis, Daniel; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Gilissen, Christian; Johari, Mridul; Laurie, Steven; Li, Shuang; Nelson, Isabelle; Peters, Sophia; Paramonov, Ida; Prasanth, Sivakumar; Robinson, Peter; Sablauskas, Karolis; Savarese, Marco; Steyaert, Wouter; Töpf, Ana; van der Velde, Joeri K.; Vitobello, Antonio; Rodenburg, Richard J.; Coenen, Marieke J. H.; Janssen, Mirian; Henssen, Dylan; Banka, Siddharth; Benetti, Elisa; Casari, Giorgio; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Ellwanger, Kornelia; Faivre, Laurence; Graessner, Holm; Haack, Tobias B.; Hammarsjö, Anna; Havlovicova, Marketa; Hoischen, Alexander; Hugon, Anne; Jackson, Adam; Kleefstra, Tjitske; Lindstrand, Anna; López-Martín, Estrella; Macek, Milan; Morleo, Manuela; Nigro, Vicenzo; Nordgren, Ann; Pettersson, Maria; Pinelli, Michele; Pizzi, Simone; Posada, Manuel; Radio, Francesca Clementina; Renieri, Alessandra; Rooryck, Caroline; Ryba, Lukas; Schwarz, Martin; Tartaglia, Marco; Thauvin, Christel; Torella, Annalaura; Verloes, Alain; Vissers, Lisenka; Votypka, Pavel; Vyshka, Klea; Zurek, Birte; Trimouille, Aurélien; Vissers, Lisenka E. L. M.

Eur J Hum Genet
Repisalud
Instituto de Salud Carlos III (ISCIII)
European Journal of Human Genetics, 29, 9, pp. 1359-1368
Solve-RD SNV-indel working group & Solve-RD DITF-ITHACA 2021, 'A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis', European Journal of Human Genetics, vol. 29, no. 9, pp. 1359-1368. https://doi.org/10.1038/s41431-021-00900-2

Matalonga, Leslie; Hernández-Ferrer, Carles; DITF-ITHACA, Solve-RD; Verloes, Alain; Vissers, Lisenka; Vitobello, Antonio; Votypka, Pavel; Vyshka, Klea; Zurek, Birte; Baets, Jonathan; Beijer, Danique; Bonne, Gisèle; Cohen, Enzo; DITF-euroNMD, Solve-RD; Cossins, Judith; Evangelista, Teresinha; Ferlini, Alessandra; Hackman, Peter; Hanna, Michael G; Horvath, Rita; Houlden, Henry; Johari, Mridul; Lau, Jarred; Lochmüller, Hanns; DITF-RND, Solve-RD; Macken, William L; Musacchia, Francesco; Nascimento, Andres; Natera-de Benito, Daniel; Nigro, Vincenzo; Piluso, Giulio; Pini, Veronica; Pitceathly, Robert D S; Polavarapu, Kiran; Cruz, Pedro M Rodriguez; Tonda, Raul; Sarkozy, Anna; Savarese, Marco; Selvatici, Rita; Thompson, Rachel; Udd, Bjarne; Van de Vondel, Liedewei; Vandrovcova, Jana; Zaharieva, Irina; Balicza, Peter; Laurie, Steven; Chinnery, Patrick; Dürr, Alexandra; Haack, Tobias; Hengel, Holger; Kamsteeg, Erik-Jan; Kamsteeg, Christoph; Lohmann, Katja; Macaya, Alfons; Marcé-Grau, Anna; Fernandez-Callejo, Marcos; Maver, Ales; Molnar, Judit; Münchau, Alexander; Peterlin, Borut; Riess, Olaf; Schöls, Ludger; Schüle-Freyer, Rebecca; Stevanin, Giovanni; Synofzik, Matthis; Timmerman, Vincent; Picó, Daniel; van de Warrenburg, Bart; van Os, Nienke; Wayand, Melanie; Wilke, Carlo; Haack, Tobias B; Graessner, Holm; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Garcia-Linares, Carles; Sturm, Marc; Schulze-Hentrich, Julia M; Kessler, Christoph; Heutink, Peter; Brunner, Han; Scheffer, Hans; Papakonstantinou, Anastasios; Hoogerbrugge, Nicoline; 't Hoen, Peter A C; Steyaert, Wouter; Sablauskas, Karolis; Te Paske, Iris; Janssen, Erik; Steehouwer, Marloes; Yaldiz, Burcu; Corvó, Alberto; Brookes, Anthony J; Veal, Colin; Gibson, Spencer; Wadsley, Marc; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Straub, Volker; Piscia, Davide; Joshi, Ricky; Bettolo, Chiara Marini; Specht, Sabine; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Duffourd, Yannis; Tisserant, Emilie; Diez, Hector; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Bullich, Gemma; Gut, Ivo; Corvo, Alberto; Garcia, Carles; Hernández, Carles; Paramonov, Ida; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hoischen, Alexander; Hanauer, Marc; Olry, Annie; Lagorce, David; Havrylenko, Svitlana; Izem, Katia; Rigour, Fanny; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Allamand, Valérie; Nelson, Isabelle; Yaou, Rabah Ben; Metay, Corinne; Eymard, Bruno; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Kremlik, Vlastimil; Parkinson, Helen; Keane, Thomas; Consortia, Solve-RD; Spalding, Dylan; Senf, Alexander; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Reilly, Mary; Muntoni, Francesco; de Jonghe, Peter; Banfi, Sandro; Torella, Annalaura; Cuesta, Isabel; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A; Johansson, Lennart; van der Vries, Gerben; Neerincx, Pieter B; group, Solve-RD SNV-indel working; Denommé-Pichon, Anne-Sophie; Roelofs-Prins, Dieuwke; Köhler, Sebastian; Metcalfe, Alison; Rooryck, Caroline; Trimouille, Aurelien; Castello, Raffaele; Morleo, Manuela; Varavallo, Alessandra; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; de la Rosa, F Javier Alonso García; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Benetti, Elisa; Molnar, Maria Judit; Gilissen, Christian; Herzog, Rebecca; Pauly, Martje; Osorio, Andres Nascimiento; de Benito, Daniel Natera; Beeson, David; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas; Li, Shuang; Prasanth, Sivakumar; Robinson, Peter; van der Velde, Joeri K; de Voer, Richarda M; Evans, Gareth; Sommer, Anna Katharina; Töpf, Ana; Paske, Iris Te; Tischkowitz, Marc; Casari, Giorgio; Ciolfi, Andrea; Dallapiccola, Bruno; de Boer, Elke; Vissers, Lisenka E L M; Hammarsjö, Anna; Havlovicova, Marketa; Hugon, Anne; de Voer, Richarda; Kleefstra, Tjitske; Lindstrand, Anna; López-Martín, Estrella; Nigro, Vicenzo; Nordgren, Ann; Pettersson, Maria; Pinelli, Michele; Pizzi, Simone; DITF-GENTURIS, Solve-RD; Posada, Manuel; Ryba, Lukas; Schwarz, Martin; Trimouille, Aurélien

Eur J Hum Genet
Repisalud
Instituto de Salud Carlos III (ISCIII)
European journal of human genetics 29(9), 1337-1347 (2021). doi:10.1038/s41431-021-00852-7
European Journal of Human Genetics, 29, 9, pp. 1337-1347
European journal of human genetics