logo
科言猫学术研究的AI总结
language
手机端手机端
  • Phone Feature微信小程序
简体中文简体中文
notice消息通知
博客博客
delete
arrow
返回
A

Anna Lindstrand

karolinska institutet

39H指数
186论文数
5.4K被引数
收录论文 77
发表时间
logo
Phenotypic and transcriptomic characterization of biallelic RNU2-2 developmental and epileptic encephalopathybiallelic RNU2-2 发育性癫痫性脑病的表型与转录组学特征
errEpilepsia
IF6.6
err2026-09-02
err0
errOAAI
errOlivia J. Henry; Nadja Pekkola Pacheco; Irene Duba; Magnus Burstedt; Daniel Carlberg; Angelica M. Delgado-Vega; Anna Hammarsjö; Sofie Ivarsson; Tord Jonson; Kristina Karrman; Nicole Lesko; Åsa Lindfors; Daniel Nilsson; Mia Olsson Engman; Lucía Peña-Pérez; Erik Stenund; Fulya Taylan; Malin Ueberschär; Samuel Wiafe; Sofia Ygberg; Anna Lindstrand; Anna Wedell; Ann Nordgren; Tommy Stödberg
err分享
err收藏
Genomic Medicine Sweden: Advancing precision medicine at the national level瑞典基因组医学：在国家层面推进精准医学
errJournal of Internal Medicine
IF9.2
err2026-07-28
err0
errOAAI
errAnders Edsjö; Anna Lindstrand; Panagiotis Baliakas; David Gisselsson; Paula Mölling; Mia Wadelius; Åsa Johansson; Hannes Olauson; Hans Ehrencrona; Lovisa Lovmar; Christian G. Giske; Henrik Green; Ann Nordgren; Fulya Taylan; Martin Hallbeck; Erika Tång Hallbäck; Anna Green; Markus Heidenblad; Kina Höglund; Anders Jemt; Carl Mårten Lindqvist; Maria Johansson Soller; Magnus Sabel; Colum Walsh; Hartmut Vogt; Craig E. Wheelock; Martin Bergö; Jens Enoksson; Ann Ekberg Jansson; Cecilia Fagerström; Jan Holgersson; Stephanie Anja Juran; Mats G. Karlsson; Frida Lundmark; Eva Tiensuu Janson; Andreas Muranyi Scheutz; Malin Sund; Päivi Östling; Sofia Gruvberger-Saal; Marene Landström; Malin Melin; Lars Palmqvist; Richard Palmqvist; Bianca Stenmark; Anna Wedell; Malin Karnå; Katarina Nyström; Tobias Strid; Per Sikora; Maria Johansson; Therese Fagerqvist; Mirja Carlsson Möller; Oskar Frisell; Mats Ulfendahl; Mikaela Friedman; Lucia Cavelier; Valtteri Wirta; Thoas Fioretos; Richard Rosenquist
err分享
err收藏
First Reported Use of Recombinant Parathyroid Hormone in Kenny–Caffey Syndrome Type 2: A Case Report and Literature Review首次报道重组甲状旁腺激素在Kenny–Caffey综合征2型中的使用：病例报告及文献综述
errDiseases
IF3
err2026-03-04
err0
errOAAI
errMaja Djordjevic Milosevic; Anita Skakic; Marina Andjelkovic; Angelica Maria Delgado-Vega; Håkan Thonberg; Kristel Klaassen; Jovana Komazec; Bozica Kecman; Nikola Jocic; Erik Björck; Anna Lindstrand; Maja Stojiljkovic
err分享
err收藏
Flexible and rapid validation of structural variation using adaptive sampling基于自适应采样的结构变异的灵活快速验证
errEuropean Journal of Human Genetics
IF4.6
err2026-02-23
err0
errOAAI
errAida Paivandy; Felix Lenner; Jesper Eisfeldt; Tord Jonson; Hans Ehrencrona; Anna Lindstrand; Stephen W. Scherer; Lars Feuk
err分享
err收藏
Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR-Gene Family对19个膀胱外翻和尿道上裂复合征家庭的基因组测序表明ADGR基因家族的参与
errAmerican Journal of Medical Genetics Part A
IF1.7
err2026-02-01
err0
errOAAI
errNordenskjold, Agneta; Alm, Samara; Eisfeldt, Jesper; Cao, Jia; Anderberg, Magnus; Barker, Gillian; Matsson, Hans; Holmdahl, Gundela; Lindstrand, Anna; Lagerstedt-robinson, Kristina
err分享
err收藏
Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocation病例报告：与来自t(3;8)易位、母系遗传衍生染色体3相关联的发育迟缓和智力障碍
errFrontiers in Genetics
IF2.8
err2025-11-27
err0
errOAAI
errAndrés León; Alex S. Aguirre; Anna Lindstrand; Marlene Ek; Vanessa I. Romero
err分享
err收藏
Intrinsic heterogeneity of primary cilia revealed through spatial proteomics通过空间蛋白质组学揭示的原生质纤毛固有异质性
errCell
IF42.5
err2025-09-26
err0
PREAI
errJan N. Hansen; Huangqingbo Sun; Konstantin Kahnert; Eini Westenius; Alexandra Johannesson; Carmela Villegas; Trang Le; Kalliopi Tzavlaki; Casper Winsnes; Emmie Pohjanen; Anna Mäkiniemi; Jenny Fall; Frederic Ballllosera Navarro; Anna Bäckström; Cecilia Lindskog; Fredric Johansson; Kalle von Feilitzen; Angelica M. Delgado-Vega; Anna Martinez Casals; Diana Mahdessian; Mathias Uhlén; Shu-Hsien Sheu; Anna Lindstrand; Ulrika Axelsson; Emma Lundberg
err分享
err收藏
The evolution of health data ecosystems: An international survey健康数据生态系统的演变：一项国际调查
erramerican journal of human genetics
IF0
err2025-07-21
err0
PREAI
errJordan P. Lerner-Ellis; E. Magda Price; Shazia Subhani; Tiffany Boughtwood; Marie-Jo Brion; Augusto Rendon; Lene Cividanes; Jacob Gemmer; Danielle Ciofani; Nicolas Bertin; Seow Shih Wee; Stephen Robertson; Batoul Baz; Katrin Crameri; Sabine Österle; Valtteri Wirta; Per Sikora; Anna Lindstrand; Frédérique Nowak; Inês Amado; Nicola Jane Mulder; Andrea Ganna; Peter Goodhand; Lindsay D. Smith; Christian R. Marshall; Ma’n Zawati; Vincent Ferretti; Jacques L. Michaud; Dennis Bulman; Francois Bernier; Kym M. Boycott
err分享
err收藏
Toward clinical long-read genome sequencing for rare diseases面向临床长读长基因组测序用于罕见病研究
errNATURE GENETICS
IF0
err2025-05-07
err0
PREAI
errEisfeldt, Jesper; Ek, Marlene; Nordenskjoeld, Magnus; Lindstrand, Anna
err分享
err收藏
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals临床全基因组测序在儿科癫痫中的应用：733例个体的遗传和表型谱
errEPILEPSIA
IF6.6
err2025-04-04
err0
errOAAI
errOlivia J. Henry; Sofia Ygberg; Michela Barbaro; Nicole Lesko; Leif Karlsson; Lucía Peña-Pérez; Ann Båvner; Virpi Töhönen; Anna Lindstrand; Tommy Stödberg; Anna Wedell
err分享
err收藏
A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease (vol 15, 2912, 2025)
errSCIENTIFIC REPORTS
IF3.9
err2025-03-24
err0
errOAAI
errEhn, Emma; Eisfeldt, Jesper; Laffita-Mesa, Jose M.; Thonberg, Hakan; Schoumans, Jacqueline; Portaankorva, Anne M.; Viitanen, Matti; Lindstrand, Anna; Nennesmo, Inger; Graff, Caroline
err分享
err收藏
Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (BMP2) Haploinsufficiency七例预测性骨形态发生蛋白2（BMP2）单倍剂量不足个体的基因型与表型特征
errCLINICAL GENETICS
IF2.3
err2025-02-19
err0
errOAAI
errElin Stavrén-Eriksson; Anna Hammarsjö; Anna Lindstrand; Ann Nordgren; Giedre Grigelioniene; Maritta Hellström Pigg
err分享
err收藏
Acute Vestibular Syndrome Unmasking an RFC1-Spectrum Disorder
errNEUROLOGY-GENETICS
IF3.7
err2025-02-01
err0
PREAI
errVerrecchia, Luca; Alm, Victor; Thonberg, Hakan; Lenner, Felix; Paivandy, Aida; Feuk, Lars; Lindstrand, Anna; Nilsson, Daniel; Paucar, Martin
err分享
err收藏
A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease从头，镶嵌和复杂的21号染色体重排导致APP三重化和家族性常染色体显性早发性阿尔茨海默病
errSCIENTIFIC REPORTS
IF3.9
err2025-01-23
err2
errOAAI
errEhn, Emma; Eisfeldt, Jesper; Laffita-Mesa, Jose M.; Thonberg, Hakan; Schoumans, Jacqueline; Portaankorva, Anne M.; Viitanen, Matti; Lindstrand, Anna; Nennesemo, Inger; Graff, Caroline
err分享
err收藏
The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease在瑞典遗传性视网膜疾病队列中，发病年龄和家族史作为分子诊断预测指标的价值
errACTA OPHTHALMOLOGICA
IF2.8
err2024-12-06
err0
PREAI
errDe Geer, Karl; Lofgren, Stefan; Lindstrand, Anna; Kvarnung, Malin; Bjorck, Erik
err分享
err收藏
Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency
errSCIENTIFIC REPORTS
IF3.9
err2024-12-05
err0
errOAAI
errEk, Marlene; Kvarnung, Malin; Pettersson, Maria; Soller, Maria Johansson; Anderlid, Britt-Marie; Thonberg, Hakan; Eisfeldt, Jesper; Lindstrand, Anna
err分享
err收藏
Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing使用长读基因组测序解决自闭症谱系障碍中的复杂重复变异
errGENOME RESEARCH
IF5.5
err2024-10-29
err0
errOAAI
errEisfeldt, Jesper; Higginbotham, Edward J.; Lenner, Felix; Howe, Jennifer; Fernandez, Bridget A.; Lindstrand, Anna; Scherer, Stephen W.; Feuk, Lars
err分享
err收藏
A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities
errGENOME RESEARCH
IF5.5
err2024-10-29
err1
PREAI
errEisfeldt, Jesper; Ameur, Adam; Lenner, Felix; Ten Berk de Boer, Esmee; Ek, Marlene; Wincent, Josephine; Vaz, Raquel; Ottosson, Jesper; Jonson, Tord; Ivarsson, Sofie; Thunstroem, Sofia; Topa, Alexandra; Stenberg, Simon; Rohlin, Anna; Sandestig, Anna; Nordling, Margareta; Palmeback, Pia; Burstedt, Magnus; Nordin, Frida; Stattin, Eva-Lena; Sobol, Maria; Baliakas, Panagiotis; Bondeson, Marie-Louise; Hoijer, Ida; Saether, Kristine Bilgrav; Lovmar, Lovisa; Ehrencrona, Hans; Melin, Malin; Feuk, Lars; Lindstrand, Anna
err分享
err收藏
Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci
errCELL GENOMICS
IF9
err2024-07-01
err2
errOAAI
errGrochowski, Christopher M.; Bengtsson, Jesse D.; Du, Haowei; Gandhi, Mira; Lun, Ming Yin; Mehaffey, Michele G.; Park, KyungHee; Hoeps, Wolfram; Benito, Eva; Hasenfeld, Patrick; Korbel, Jan O.; Mahmoud, Medhat; Paulin, Luis F.; Jhangiani, Shalini N.; Hwang, James Paul; Bhamidipati, Sravya V.; Muzny, Donna M.; Fatih, Jawid M.; Gibbs, Richard A.; Pendleton, Matthew; Harrington, Eoghan; Juul, Sissel; Lindstrand, Anna; Sedlazeck, Fritz J.; Pehlivan, Davut; Lupski, James R.; Carvalho, Claudia M. B.
err分享
err收藏
Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing
errACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA
IF3.1
err2024-06-14
err0
errOAAI
errWincent, Josephine; Helgadottir, Hafdis T.; Sergouniotis, Fotios; Mantero, Angelo Salazar; Carvalho, Claudia M. B.; Malmgren, Helena; Lindstrand, Anna; Iwarsson, Erik
err分享
err收藏

研究方向

暂时未获取到该数据
合作学者
合作期刊
E
Evan E. Eichler
H 指数: 191 · 论文数: 864
R
Richard A. Gibbs
H 指数: 190 · 论文数: 1.3K
S
Stephen W. Scherer
H 指数: 161 · 论文数: 1.1K
J
James R. Lupski
H 指数: 144 · 论文数: 1.1K
I
Ingrid E. Scheffer
H 指数: 141 · 论文数: 1.0K
查看更多