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G

Giedré Grigelioniené

Karolinska University Hospital
H指数:33
被引数:3,300

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Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age-Dependent Clinical Trajectory

在ReNU综合征中深度表型分析识别出一种可识别的年龄依赖性临床轨迹

Clinical Genetics
IF2.3
2026-09-300
OAAI
Nadja Pekkola Pacheco; Malin Kvarnung; Anna Hammarsjö; Daniel Nilsson; Bianca Tesi; Britt Marie Anderlid; Giedre Grigelioniene; Maria Johansson Soller; Liselot van der Laan; Charlotte Willfors; Charlotta Ingvoldstad Malmgren; Anna Lindstrand; Tommy Stödberg; Ann Nordgren; Angelica Maria Delgado-Vega
The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation

卡罗林斯卡基因组医学中心关于罕见病基因组测序的10年报告及分步临床实施策略

Genome Medicine
IF11.2
2026-03-300
OAAI
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 M. 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 Sundin; 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; 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 H. Zetterström; Ingegerd Öfverholm; Ann Nordgren; Henrik Stranneheim; Valtteri Wirta; Anna Wedell
International guideline on genetic testing of children with short stature

关于儿童矮身材遗传检测的国际指南

European Journal of Endocrinology
IF5.2
2026-02-014
PRE
Dauber, Andrew; Jorge, Alexander A. L.; Nilsson, Ola; Dekkers, Olaf M.; Argente, Jesus; Netchine, Irene; Backeljauw, Philippe; Baron, Jeffrey; Bertola, Debora R.; Clayton, Peter; Davies, Justin H.; Edouard, Thomas; Eggermann, Thomas; Gevers, Evelien F.; Grigelioniene, Giedre; Heath, Karen E.; Jee, Youn Hee; Lapunzina, Pablo; Mortier, Geert R.; Pruhova, Stepanka; Storr, Helen L.; Wakeling, Emma; Ferreira, Carlos R.; Hasegawa, Tomonobu; Hokken-Koelega, Anita C. S.; Linglart, Agnes; Luo, Xiaoping; Wang, Xiumin; Hwa, Vivian; Gregory, Louise C.; Buonocore, Federica; Dattani, Mehul T.; Cianfarani, Stefano; Wit, Jan M.
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders
JOURNAL OF BONE AND MINERAL RESEARCH
IF5.9
2023-03-106
OA
Batkovskyte, Dominyka; McKenzie, Fiona; Taylan, Fulya; Simsek-Kiper, Pelin Ozlem; Nikkel, Sarah M.; Ohashi, Hirofumi; Stevenson, Roger E.; Ha, Thuong; Cavalcanti, Denise P.; Miyahara, Hiroyuki; Skinner, Steven A.; Aguirre, Miguel A.; Akcoeren, Zuehal; Utine, Gulen Eda; Chiu, Tillie; Shimizu, Kenji; Hammarsjoe, Anna; Boduroglu, Koray; Moore, Hannah W.; Louie, Raymond J.; Arts, Peer; Merrihew, Allie N.; Babic, Milena; Jackson, Matilda R.; Papadogiannakis, Nikos; Lindstrand, Anna; Nordgren, Ann; Barnett, Christopher P.; Scott, Hamish S.; Chagin, Andrei S.; Nishimura, Gen; Grigelioniene, Giedre
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability

基因组测序是诊断智障人士的敏感的一线测试

GENETICS IN MEDICINE
IF6.2
2022-11-0117
OA
Lindstrand, Anna; Ek, Marlene; Kvarnung, Malin; Anderlid, Britt-Marie; Bjoerck, Erik; Carlsten, Jonas; Eisfeldt, Jesper; Grigelioniene, Giedre; Gustavsson, Peter; Hammarsjoe, Anna; Helgadottir, Hafdis T.; Hellstroem-Pigg, Maritta; Kuchinskaya, Ekaterina; Lagerstedt-Robinson, Kristina; Levin, Lars-Ake; Lieden, Agne; Lindeloef, Hillevi; Malmgren, Helena; Nilsson, Daniel; Svensson, Eva; Paucar, Martin; Sahlin, Ellika; Tesi, Bianca; Tham, Emma; Winberg, Johanna; Winerdal, Max; Wincent, Josephine; Soller, Maria Johansson; Pettersson, Maria; Nordgren, Ann
Defining the clinical phenotype of Saul-Wilson syndrome

定义saul-wilson综合征的临床表型

GENETICS IN MEDICINE
IF6.2
2020-05-019
OAAI
Ferreira, Carlos R.; Zein, Wadih M.; Huryn, Laryssa A.; Merker, Andrea; Berger, Seth I.; Wilson, William G.; Tiller, George E.; Wolfe, Lynne A.; Merideth, Melissa; Carvalho, Daniel R.; Duker, Angela L.; Bratke, Heiko; Haug, Marte Gjol; Rohena, Luis; Hove, Hanne B.; Xia, Zhi-Jie; Ng, Bobby G.; Freeze, Hudson H.; Gabriel, Melissa; Russi, Alvaro H. Serrano; Brick, Lauren; Kozenko, Mariya; Earl, Dawn L.; Tham, Emma; Nishimura, Gen; Phillips, John A.; Gahl, William A.; Hamid, Rizwan; Jackson, Andrew P.; Grigelioniene, Giedre; Bober, Michael B.
Absence of GP130 cytokine receptor signaling causes extended Stuve-Wiedemann syndrome
JOURNAL OF EXPERIMENTAL MEDICINE
IF10.6
2020-01-0837
OAAI
Chen, Yin-Huai; Grigelioniene, Giedre; Newton, Phillip T.; Gullander, Jacob; Elfving, Maria; Hammarsjo, Anna; Batkovskyte, Dominyka; Alsaif, Hessa S.; Kurdi, Wesam I. Y.; Abdulwahab, Firdous; Shanmugasundaram, Veerabahu; Devey, Luke; Bacrot, Severine; Brodszki, Jana; Huber, Celine; Hamel, Ben; Gisselsson, David; Papadogiannakis, Nikos; Jedrycha, Katarina; Gurtl-Lackner, Barbara; Chagin, Andrei S.; Nishimura, Gen; Aschenbrenner, Dominik; Alkuraya, Fowzan S.; Laurence, Arian; Cormier-Daire, Valerie; Uhlig, Holm H.
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

从细胞遗传学到细胞基因组学: 全基因组测序作为一线测试全面捕捉导致智力障碍的各种致病遗传变异

GENOME MEDICINE
IF11.2
2019-11-0795
OAAI
Lindstrand, Anna; Eisfeldt, Jesper; Pettersson, Maria; Carvalho, Claudia M. B.; Kvarnung, Malin; Grigelioniene, Giedre; Anderlid, Britt-Marie; Bjerin, Olof; Gustavsson, Peter; Hammarsjo, Anna; Georgii-Hemming, Patrik; Iwarsson, Erik; Johansson-Soller, Maria; Lagerstedt-Robinson, Kristina; Lieden, Agne; Magnusson, Mans; Martin, Marcel; Malmgren, Helena; Nordenskjold, Magnus; Norling, Ameli; Sahlin, Ellika; Stranneheim, Henrik; Tham, Emma; Wincent, Josephine; Ygberg, Sofia; Wedell, Anna; Wirta, Valtteri; Nordgren, Ann; Lundin, Johanna; Nilsson, Daniel
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia
NATURE MEDICINE
IF50
2019-02-2580
OAAI
Grigelioniene, Giedre; Suzuki, Hiroshi I.; Taylan, Fulya; Mirzamohammadi, Fatemeh; Borochowitz, Zvi U.; Ayturk, Ugur M.; Tzur, Shay; Horemuzova, Eva; Lindstrand, Anna; Weis, Mary Ann; Grigelionis, Gintautas; Hammarsjo, Anna; Marsk, Elin; Nordgren, Ann; Nordenskjold, Magnus; Eyre, David R.; Warman, Matthew L.; Nishimura, Gen; Sharp, Phillip A.; Kobayashi, Tatsuya
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2018-10-0151
OAAI
Ferreira, Carlos R.; Xia, Zhi-Jie; Clement, Aurelie; Parry, David A.; Davids, Mariska; Taylan, Fulya; Sharma, Prashant; Turgeon, Coleman T.; Blanco-Sanchez, Bernardo; Ng, Bobby G.; Logan, Clare V.; Wolfe, Lynne A.; Solomon, Benjamin D.; Cho, Megan T.; Douglas, Ganka; Carvalho, Daniel R.; Bratke, Heiko; Haug, Marte Gjol; Phillips, Jennifer B.; Wegner, Jeremy; Tiemeyer, Michael; Aoki, Kazuhiro; Nordgren, Ann; Hammarsjo, Anna; Duker, Angela L.; Rohena, Luis; Hove, Hanne Buciek; Ek, Jakob; Adams, David; Tifft, Cynthia J.; Onyekweli, Tito; Weixel, Tara; Macnamara, Ellen; Radtke, Kelly; Powis, Zoe; Earl, Dawn; Gabriel, Melissa; Russi, Alvaro H. Serrano; Brick, Lauren; Kozenko, Mariya; Tham, Emma; Raymond, Kimiyo M.; Phillips, John A., III; Tiller, George E.; Wilson, William G.; Hamid, Rizwan; Malicdan, May C. V.; Nishimura, Gen; Grigelioniene, Giedre; Jackson, Andrew; Westerfield, Monte; Bober, Michael B.; Gahl, William A.; Freeze, Hudson H.

研究方向

暂未获取到该数据
G
Gen Nishimura
H 指数:57论文数:844被引数:1.3万
A
Ann Nordgren
H 指数:51论文数:254被引数:8,675
A
Anna Hammarsjö
H 指数:18论文数:52被引数:1,536
A
Anna Lindstrand
H 指数:39论文数:189被引数:5,501
E
Emma Tham
H 指数:32论文数:186被引数:3,512
F
Fulya Taylan
H 指数:24论文数:84被引数:1,789
N
Nilsson, Daniel
H 指数:0论文数:0被引数:29
M
Maria Pettersson
H 指数:26论文数:178被引数:3,154
H
Helena Malmgren
H 指数:25论文数:89被引数:3,285
J
Jesper Eisfeldt
H 指数:21论文数:121被引数:2,061