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研究兴趣

论文共 358 篇作者统计合作学者相似作者

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Bi-allelic Variants in BRF2 Are Associated with Perinatal Death and Craniofacial Anomalies
Francesca Mattioli, Rún Friðriksdóttir, Anne Hebert,Sissy Bassani, Nazia Ibrahim,Shagufta Naz,Jacqueline Chrast, Clara Pailler-Pradeau,Ásmundur Oddsson,Patrick Sulem, Gisli H. Halldorsson,Páll Melsted, Daníel F. Guðbjartsson,Flavia Palombo,Tommaso Pippucci,Nayereh Nouri,Marco Seri, Emily G. Farrow, Carol J. Saunders,Nicolas Guex, Muhammad Ansar,Kari Stefansson,Alexandre Reymond
Genome Medicineno. 1 (2025): 1-16
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Sequence Diversity Lost in Early Pregnancy
Gudny A Arnadottir,Hakon Jonsson,Tanja Schlaikjær Hartwig, Jennifer R Gruhn, Peter Loof Møller,Arnaldur Gylfason,David Westergaard, Andrew Chi-Ho Chan,Asmundur Oddsson,Lilja Stefansdottir, Louise le Roux,Valgerdur Steinthorsdottir, Kristjan H Swerford Moore,Sigurgeir Olafsson,Pall I Olason, Hannes P Eggertsson, Gísli H Halldórsson, G Bragi Walters,Hreinn Stefansson,Sigurjon A Gudjonsson,Gunnar Palsson,Brynjar O Jensson, Run Fridriksdottir, Jesper Friis Petersen, COPL Consortium, Agnar Helgason, Gudmundur L Norddahl, Palle Duun Rohde,Jona Saemundsdottir, Olafur Th Magnusson,Bjarni V Halldorsson,Sofie Bliddal,Karina Banasik, Daniel F Gudbjartsson,Mette Nyegaard,Patrick Sulem,Unnur Thorsteinsdottir,Eva R Hoffmann,Henriette Svarre Nielsen,Kari Stefansson
Natureno. 8068 (2025): 672-681
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Missense Variants in FRS3 Affect Body Mass Index in Populations of Diverse Ancestries
Andrea B Jonsdottir,Gardar Sveinbjornsson,Rosa B Thorolfsdottir,Max Tamlander, Vinicius Tragante,Thorhildur Olafsdottir,Solvi Rognvaldsson,Asgeir Sigurdsson,Hannes P Eggertsson, Hildur M Aegisdottir,David O Arnar,Karina Banasik,Doruk Beyter, Ragnar G Bjarnason,Gyda Bjornsdottir,Søren Brunak,Mie Topholm Bruun, Joseph Dowsett, Eythor Einarsson,Gudmundur Einarsson,Christian Erikstrup,Run Fridriksdottir, Jonas Ghouse,Solveig Gretarsdottir, Gisli H Halldorsson,Torben Hansen,Anna Helgadottir, Peter C Holm,Erna V Ivarsdottir, Kasper Karmark Iversen, Bitten Aagaard Jensen,Ingileif Jonsdottir,Stacey Knight, Kirk U Knowlton,Snaedis Kristmundsdottir, Adalheidur E Larusdottir,Olafur Th Magnusson,Gisli Masson,Pall Melsted,Christina Mikkelsen,Kristjan H S Moore,Asmundur Oddsson,Pall I Olason, Frosti Palsson,Ole Birger Pedersen,Michael Schwinn,Emil L Sigurdsson, Aron Skaftason,Lilja Stefansdottir,Hreinn Stefansson,Thora Steingrimsdottir, Arni Sturluson,Unnur Styrkarsdottir,Erik Sørensen, Unnur D Teitsdottir,Thorgeir E Thorgeirsson,Gudmundur A Thorisson,Unnur Thorsteinsdottir, Magnus O Ulfarsson,Henrik Ullum,Arnor Vikingsson, G Bragi Walters, DBDS Genomic Consortium, Lincoln D Nadauld,Henning Bundgaard,Sisse Rye Ostrowski,Agnar Helgason,Bjarni V Halldorsson, Gudmundur L Norddahl,Samuli Ripatti,Daniel F Gudbjartsson,Gudmar Thorleifsson,Valgerdur Steinthorsdottir,Hilma Holm,Patrick Sulem,Kari Stefansson
Nature communications（2025）
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Biallelic Variants in GTF3C3 Encoding a Subunit of the TFIIIC2 Complex Are Associated with Neurodevelopmental Phenotypes in Humans and Zebrafish
Mohamed S Abdel-Hamid, Adeline Paimboeuf,Maha S Zaki,Fernanda Figueiredo, Sherif F Abdel-Ghafar, Sabrina Maher,Rún Friðriksdóttir,Patrick Sulem, Hákon Björn Högnason, Sigrún Hallgrímsdóttir, Catarina Falleiros N Rojas,Fernando Kok,Mohnish Suri, César Augusto P F Alves,Henry Houlden,Reza Maroofian,Shunmoogum A Patten
Brain communicationsno. 1 (2025): fcaf055-fcaf055
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Mutations in the Small Nuclear RNA Gene RNU2-2 Cause a Severe Neurodevelopmental Disorder with Prominent Epilepsy
Daniel Greene, Koenraad De Wispelaere, Jon Lees, Marta Codina-Solà,Brynjar O Jensson, Emma Hales, Andrea Katrinecz, Esther Nieto Molina, Sonia Pascoal,Rolph Pfundt,Rachel Schot, Marta Sevilla Porras,Frank Sleutels,Irene Valenzuela,Robin Wijngaard, Ignacio Arroyo Carrera, Giles Atton, Didac Casas-Alba,Deirdre Donnelly, Anna Duat Rodríguez,Bárbara Fernández Garoz,Nicola Foulds, Deyanira García-Navas Núñez, Elena González Alguacil, Joanna Jarvis,Sarina G Kant, Irene Madrigal Bajo, Antonio F Martinez-Monseny,Shane McKee, Nelmar Valentina Ortiz Cabrera, Laia Rodríguez-Revenga Bodi, Andrea Sariego Jamardo,Kari Stefansson,Patrick Sulem,Mohnish Suri, Clara Van Karnebeek,Pradeep Vasudevan, Ana Isabel Vega Pajares, Ángel Carracedo,Marc Engelen,Pablo Lapunzina, Natasha P Morgan,Beatriz Morte,Patrick Rump, Kathy Stirrups,Eduardo F Tizzano,Tahsin Stefan Barakat, Michael O'Donoghue,Luis Alberto Pérez-Jurado,Kathleen Freson,Andrew D Mumford,Ernest Turro
Nature geneticsno. 6 (2025): 1367-1373
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X-chromosome and Kidney Function: Evidence from a Multi-Trait Genetic Analysis of 908,697 Individuals Reveals Sex-Specific and Sex-Differential Findings in Genes Regulated by Androgen Response Elements
Markus Scholz,Katrin Horn,Janne Pott,Matthias Wuttke,Andreas Kühnapfel, M. Kamal Nasr,Holger Kirsten,Yong Li,Anselm Hoppmann,Mathias Gorski,Sahar Ghasemi,Man Li,Adrienne Tin,Jin-Fang Chai,Massimiliano Cocca,Judy Wang,Teresa Nutile,Masato Akiyama,Bjørn Olav Åsvold,Nisha Bansal,Mary L. Biggs,Thibaud Boutin,Hermann Brenner,Ben Brumpton,Ralph Burkhardt,Jianwen Cai,Archie Campbell,Harry Campbell,John Chalmers,Daniel I. Chasman,Miao Ling Chee,Miao Li Chee,Xu Chen,Ching-Yu Cheng,Renata Cifkova,Martha Daviglus,Graciela Delgado,Katalin Dittrich,Todd L. Edwards,Karlhans Endlich,J. Michael Gaziano,Ayush Giri,Franco Giulianini,Scott D. Gordon,Daniel F. Gudbjartsson,Stein Hallan,Pavel Hamet,Catharina A. Hartman,Caroline Hayward,Iris M. Heid,Jacklyn N. Hellwege,Bernd Holleczek,Hilma Holm,Nina Hutri-Kähönen,Kristian Hveem,Berend Isermann,Jost B. Jonas,Peter K. Joshi,Yoichiro Kamatani,Masahiro Kanai,Mika Kastarinen,Chiea Chuen Khor,Wieland Kiess,Marcus E. Kleber,Antje Körner,Peter Kovacs,Alena Krajcoviechova,Holly Kramer,Bernhard K. Krämer,Mikko Kuokkanen,Mika Kähönen,Leslie A. Lange,James P. Lash,Terho Lehtimäki,Hengtong Li,Bridget M. Lin,Jianjun Liu,Markus Loeffler,Leo-Pekka Lyytikäinen,Patrik K. E. Magnusson,Nicholas G. Martin,Koichi Matsuda,Yuri Milaneschi,Pashupati P. Mishra,Nina Mononen,Grant W. Montgomery,Dennis O. Mook-Kanamori,Josyf C. Mychaleckyj,Winfried März,Matthias Nauck,Kjell Nikus,Ilja M. Nolte,Raymond Noordam,Yukinori Okada,Isleifur Olafsson,Albertine J. Oldehinkel,Brenda W. J. H. Penninx,Markus Perola,Nicola Pirastu,Ozren Polasek,David J. Porteous,Tanja Poulain,Bruce M. Psaty,Ton J. Rabelink,Laura M. Raffield,Olli T. Raitakari,Humaira Rasheed,Dermot F. Reilly,Kenneth M. Rice,Anne Richmond,Paul M. Ridker,Jerome I. Rotter,Igor Rudan,Charumathi Sabanayagam,Veikko Salomaa,Neil Schneiderman,Ben Schöttker,Mario Sims,Harold Snieder,Klaus J. Stark,Kari Stefansson,Hannah Stocker,Michael Stumvoll,Patrick Sulem,Gardar Sveinbjornsson,Per O. Svensson,E-Shyong Tai,Kent D. Taylor,Bamidele O. Tayo,Andrej Teren,Yih-Chung Tham,Joachim Thiery,Chris H. L. Thio,Laurent F. Thomas,Johanne Tremblay,Anke Tönjes,Peter J. van der Most,Veronique Vitart,Uwe Völker,Ya Xing Wang,Chaolong Wang,Wen Bin Wei,John B. Whitfield,Sarah H. Wild,James F. Wilson,Thomas W. Winkler,Tien-Yin Wong,Mark Woodward,Xueling Sim,Audrey Y. Chu,Mary F. Feitosa,Unnur Thorsteinsdottir,Adriana M. Hung,Alexander Teumer,Nora Franceschini,Afshin Parsa,Anna Köttgen,Pascal Schlosser,Cristian Pattaro
Nature Communicationsno. 1 (2024)
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作者统计

#Papers: 358

#Citation: 45805

H-Index: 101

G-Index: 212

Sociability: 9

Diversity: 3

Activity: 218

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