基本信息
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Bio
I investigate disease at the molecular level. The journey towards treatment for the rare genetic disorders begins with a molecular diagnosis. We understand the molecular cause of some 4000 out of at least 8000 rare genetic disorders. With a background in large scale genomics and bioinformatics development, I help improving diagnostics for the known disease genes. While establishing and improving MPS technology in the clinic, we also explore and investigate the remaining diseases for answers.
Research Interests
Papers共 128 篇Author StatisticsCo-AuthorSimilar Experts
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NEUROLOGY-GENETICSno. 1 (2025)
JOURNAL OF INTERNAL MEDICINEno. 3 (2024): 234-248
Cancersno. 13 (2024): 2289-2289
Angelica Johansson,Daniel Nilsson,Lina M Olsson, Edith Gustafsson, Niamh Nihlsson, Anna Janska,Anna Porwit,Peter Hollander,Mats Jerkeman,Sara Ek
Bloodno. Supplement 1 (2024): 2987-2987
Zhongbo Chen,Pilar Alvarez Jerez,Claire Anderson,Martin Paucar, Jasmaine Lee,Daniel Nilsson,Hannah Macpherson,Annarita Scardamaglia,Kylie Montgomery,John Hardy,Andrew B. Singleton,Arianna Tucci,Katherine D. Mathews,Ying-Hui Fu,Martin Engvall,Jose Laffita-Mesa,Inger Nennesmo,Anna Wedell, Louis J. Ptacek,Cornelis Blauwendraat,Emil K. Gustavsson,Per Svenningsson,Mina Ryten,Henry Houlden
MOVEMENT DISORDERS (2024)
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 geneticsno. 11 (2024): 2287-2294
EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 588-588
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Marlene Ek,Daniel Nilsson,Martin Engvall,Helena Malmgren,Hakan Thonberg,Maria Pettersson,Britt-Marie Anderlid,Anna Hammarsjo,Hafdis Helgadottir,Snjolaug Arnardottir,Karin Naess,Inger Nennesemo,Martin Paucar,Helgi Thor Hjartarson,Rayomand Press,Goran Solders,Thomas Sejersen,Anna Lindstrand,Malin Kvarnung
Frontiers in Neurology (2023)
FRONTIERS IN GENETICS (2023)
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Author Statistics
#Papers: 128
#Citation: 6536
H-Index: 33
G-Index: 80
Sociability: 7
Diversity: 3
Activity: 10
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