日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders

对32例患有遗传性骨骼疾病的胎儿进行基因组测序

Lindelöf, Hillevi; Hammarsjö, Anna; Voss, Ulrika; Gaetana Piticchio, Serena; Conner, Peter; Papadogiannakis, Nikos; Batkovskyte, Dominyka; Orellana, Laura; Kvarnung, Malin; Malmgren, Helena; Lagerstedt Robinson, Kristina; Nordgren, Ann; Lindstrand, Anna; Nishimura, Gen; Grigelioniene, Giedre

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

借助首届“未确诊疾病黑客马拉松”,突破罕见病诊断的界限

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

The level of protein in the maternal murine diet modulates the facial appearance of the offspring via mTORC1 signaling

母鼠饮食中的蛋白质水平通过 mTORC1 信号调节后代的面部外观

Meng Xie, Markéta Kaiser, Yaakov Gershtein, Daniela Schnyder, Ruslan Deviatiiarov, Guzel Gazizova, Elena Shagimardanova, Tomáš Zikmund, Greet Kerckhofs, Evgeny Ivashkin, Dominyka Batkovskyte, Phillip T Newton, Olov Andersson, Kaj Fried, Oleg Gusev, Hugo Zeberg, Jozef Kaiser, Igor Adameyko, Andrei S

The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect

成骨不全症 V 型中的 IFITM5 突变与 ERK/SOX9 依赖性骨祖细胞分化缺陷有关

Ronit Marom, I-Wen Song, Emily C Busse, Megan E Washington, Ava S Berrier, Vittoria C Rossi, Laura Ortinau, Youngjae Jeong, Ming-Ming Jiang, Brian C Dawson, Mary Adeyeye, Carolina Leynes, Caressa D Lietman, Bridget M Stroup, Dominyka Batkovskyte, Mahim Jain, Yuqing Chen, Racel Cela, Alexis Castellon

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders

Al-Gazali 骨骼发育不良是 ADAMTSL2 相关疾病的致命原因

Dominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, Pelin Ozlem Simsek-Kiper, Sarah M Nikkel, Hirofumi Ohashi, Roger E Stevenson, Thuong Ha, Denise P Cavalcanti, Hiroyuki Miyahara, Steven A Skinner, Miguel A Aguirre, Zühal Akçören, Gulen Eda Utine, Tillie Chiu, Kenji Shimizu, Anna Hammarsjö, Koray B

Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13

RPL13相关脊椎骨骺干骺端发育不良的临床、遗传和结构描述表明eL13具有核糖体外功能

Jacob, Prince; Lindelöf, Hillevi; Rustad, Cecilie F; Sutton, Vernon Reid; Moosa, Shahida; Udupa, Prajna; Hammarsjö, Anna; Bhavani, Gandham SriLakshmi; Batkovskyte, Dominyka; Tveten, Kristian; Dalal, Ashwin; Horemuzova, Eva; Nordgren, Ann; Tham, Emma; Shah, Hitesh; Merckoll, Else; Orellana, Laura; Nishimura, Gen; Girisha, Katta M; Grigelioniene, Giedre

A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay

线粒体外膜复合物亚基转位酶TOMM7的低活性变异会导致身材矮小和发育迟缓

Young, Cameron; Batkovskyte, Dominyka; Kitamura, Miyuki; Shvedova, Maria; Mihara, Yutaro; Akiba, Jun; Zhou, Wen; Hammarsjö, Anna; Nishimura, Gen; Yatsuga, Shuichi; Grigelioniene, Giedre; Kobayashi, Tatsuya

Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome

病例报告:FOXC1单倍体功能不全综合征临床和分子学表现谱的拓展

Garza Flores, Alexandra; Nordgren, Ida; Pettersson, Maria; Dias-Santagata, Dora; Nilsson, Daniel; Hammarsjö, Anna; Lindstrand, Anna; Batkovskyte, Dominyka; Wiggs, Janey; Walton, David S; Goldenberg, Paula; Eisfeldt, Jesper; Lin, Angela E; Lachman, Ralph S; Nishimura, Gen; Grigelioniene, Giedre

Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders

扩大 MYH3 相关骨骼疾病的突变和表型谱

Sen Zhao #, Yuanqiang Zhang #, Sigrun Hallgrimsdottir #, Yuzhi Zuo #, Xiaoxin Li, Dominyka Batkovskyte, Sen Liu, Hillevi Lindelöf, Shengru Wang, Anna Hammarsjö, Yang Yang, Yongyu Ye, Lianlei Wang, Zihui Yan, Jiachen Lin, Chenxi Yu, Zefu Chen, Yuchen Niu, Huizi Wang, Zhi Zhao, Pengfei Liu, Guixing Qi

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

利用大规模并行基因组测序、结构变异筛查和RNA分析,在骨骼纤毛病诊断中获得了较高的诊断率

Hammarsjö, Anna; Pettersson, Maria; Chitayat, David; Handa, Atsuhiko; Anderlid, Britt-Marie; Bartocci, Marco; Basel, Donald; Batkovskyte, Dominyka; Beleza-Meireles, Ana; Conner, Peter; Eisfeldt, Jesper; Girisha, Katta M; Chung, Brian Hon-Yin; Horemuzova, Eva; Hyodo, Hironobu; Korņejeva, Liene; Lagerstedt-Robinson, Kristina; Lin, Angela E; Magnusson, Måns; Moosa, Shahida; Nayak, Shalini S; Nilsson, Daniel; Ohashi, Hirofumi; Ohashi-Fukuda, Naoko; Stranneheim, Henrik; Taylan, Fulya; Traberg, Rasa; Voss, Ulrika; Wirta, Valtteri; Nordgren, Ann; Nishimura, Gen; Lindstrand, Anna; Grigelioniene, Giedre