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

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

致病性GABRA3变异的功能后果决定了X连锁遗传是显性遗传还是隐性遗传。

Johannesen, Katrine M; Aung, Khaing Phyu; Liao, Vivian Wy; Absalom, Nathan; Chua, Han C; Gan, Xue N; Mao, Miaomiao; McKenzie, Chaseley E; Lee, Hian M; Ortiz, Sebastian; Spillmann, Rebecca C; Shashi, Vandana; Radtke, Rodney A; Mirzaa, Ghayda M; Weisner, P Anne; Flores Daboub, Josue; Hagedorn, Caroline; Bayrak-Toydemir, Pinar; DeMille, Desiree; Zhao, Jian; Bajaj, Nandita; Capri, Yline; Keren, Boris; Schmidts, Miriam; van de Laar, Ingrid Mbh; van Slegtenhorst, Marjon A; Ploski, Rafal; Bogotko, Marta; Bourque, Danielle K; Alkhunaizi, Ebba; Chad, Lauren; Quercia, Nada; Elloumi, Houda; Wentzensen, Ingrid M; Kruer, Michael C; Bisarad, Pritha; Galaz-Montoya, Carolina I; Rusu, Violeta; Braun, Dominique; Angione, Katie; Win, Jessica C; Espinosa-Jovel, Camilo; Zacher, Pia; Platzer, Konrad; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Rubboli, Guido; Møller, Rikke S; Reid, Christopher A; Ahring, Philip K

Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits

代谢组学与外显子组测序相结合,揭示了罕见有害杂合变异对基因功能和人类性状的分级影响

Scherer, Nora; Fässler, Daniel; Borisov, Oleg; Cheng, Yurong; Schlosser, Pascal; Wuttke, Matthias; Haug, Stefan; Li, Yong; Telkämper, Fabian; Patil, Suraj; Meiselbach, Heike; Wong, Casper; Berger, Urs; Sekula, Peggy; Hoppmann, Anselm; Schultheiss, Ulla T; Mozaffari, Sahar; Xi, Yannan; Graham, Robert; Schmidts, Miriam; Köttgen, Michael; Oefner, Peter J; Knauf, Felix; Eckardt, Kai-Uwe; Grünert, Sarah C; Estrada, Karol; Thiele, Ines; Hertel, Johannes; Köttgen, Anna

IUC22940-82 A 7-year review of robot-assisted vs laparoscopic radical nephrectomy at a UK district general hospital (2018-2024)

IUC22940-82 英国某地区综合医院机器人辅助根治性肾切除术与腹腔镜根治性肾切除术7年回顾(2018-2024)

Pazour, Gregory J; Quarmby, Lynne; Smith, Abigail O; Desai, Paurav B; Schmidts, Miriam; Hossain, A; Khan, S; Albnhawy, A

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

ACBD6双等位基因变异会导致一种神经发育综合征,伴有进行性且复杂的运动障碍。

Kaiyrzhanov, Rauan; Rad, Aboulfazl; Lin, Sheng-Jia; Bertoli-Avella, Aida; Kallemeijn, Wouter W; Godwin, Annie; Zaki, Maha S; Huang, Kevin; Lau, Tracy; Petree, Cassidy; Efthymiou, Stephanie; Karimiani, Ehsan Ghayoor; Hempel, Maja; Normand, Elizabeth A; Rudnik-Schöneborn, Sabine; Schatz, Ulrich A; Baggelaar, Marc P; Ilyas, Muhammad; Sultan, Tipu; Alvi, Javeria Raza; Ganieva, Manizha; Fowler, Ben; Aanicai, Ruxandra; Tayfun, Gulsen Akay; Al Saman, Abdulaziz; Alswaid, Abdulrahman; Amiri, Nafise; Asilova, Nilufar; Shotelersuk, Vorasuk; Yeetong, Patra; Azam, Matloob; Babaei, Meisam; Monajemi, Gholamreza Bahrami; Mohammadi, Pouria; Samie, Saeed; Banu, Selina Husna; Pinto Basto, Jorge; Kortüm, Fanny; Bauer, Mislen; Bauer, Peter; Beetz, Christian; Garshasbi, Masoud; Issa, Awatif Hameed; Eyaid, Wafaa; Ahmed, Hind; Hashemi, Narges; Hassanpour, Kazem; Herman, Isabella; Ibrohimov, Sherozjon; Abdul-Majeed, Ban A; Imdad, Maria; Isrofilov, Maksudjon; Kaiyal, Qassem; Khan, Suliman; Kirmse, Brian; Koster, Janet; Lourenço, Charles Marques; Mitani, Tadahiro; Moldovan, Oana; Murphy, David; Najafi, Maryam; Pehlivan, Davut; Rocha, Maria Eugenia; Salpietro, Vincenzo; Schmidts, Miriam; Shalata, Adel; Mahroum, Mohammad; Talbeya, Jawabreh Kassem; Taylor, Robert W; Vazquez, Dayana; Vetro, Annalisa; Waterham, Hans R; Zaman, Mashaya; Schrader, Tina A; Chung, Wendy K; Guerrini, Renzo; Lupski, James R; Gleeson, Joseph; Suri, Mohnish; Jamshidi, Yalda; Bhatia, Kailash P; Vona, Barbara; Schrader, Michael; Severino, Mariasavina; Guille, Matthew; Tate, Edward W; Varshney, Gaurav K; Houlden, Henry; Maroofian, Reza

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

NOTCH3基因双等位基因变异的临床和神经放射学表现谱

Iruzubieta, Pablo; Alves, César Augusto Pinheiro Ferreira; Al Shamsi, Aisha M; ElGhazali, Gehad; Zaki, Maha S; Pinelli, Lorenzo; Lopergolo, Diego; Cho, Bernard P H; Jolly, Amy A; Al Futaisi, Amna; Al-Amrani, Fatema; Galli, Jessica; Fazzi, Elisa; Vulin, Katarina; Barajas-Olmos, Francisco; Hengel, Holger; Aljamal, Bayan Mohammed; Nasr, Vahideh; Assarzadegan, Farhad; Ragno, Michele; Trojano, Luigi; Ojeda, Naomi Meave; Çakar, Arman; Bianchi, Silvia; Pescini, Francesca; Poggesi, Anna; Al Tenalji, Amal; Aziz, Majid; Mohammad, Rahema; Chedrawi, Aziza; De Stefano, Nicola; Zifarelli, Giovanni; Schöls, Ludger; Haack, Tobias B; Rebelo, Adriana; Zuchner, Stephan; Koc, Filiz; Griffiths, Lyn R; Orozco, Lorena; Helmes, Karla García; Babaei, Meisam; Bauer, Peter; Chan Jeong, Won; Karimiani, Ehsan Ghayoor; Schmidts, Miriam; Gleeson, Joseph G; Chung, Wendy K; Alkuraya, Fowzan Sami; Shalbafan, Bita; Markus, Hugh S; Houlden, Henry; Maroofian, Reza

Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder

编码钠依赖性碳酸氢盐转运蛋白的SLC4A10基因的双等位基因变异会导致神经发育障碍

Maroofian, Reza; Zamani, Mina; Kaiyrzhanov, Rauan; Liebmann, Lutz; Karimiani, Ehsan Ghayoor; Vona, Barbara; Huebner, Antje K; Calame, Daniel G; Misra, Vinod K; Sadeghian, Saeid; Azizimalamiri, Reza; Mohammadi, Mohammad Hasan; Zeighami, Jawaher; Heydaran, Sogand; Toosi, Mehran Beiraghi; Akhondian, Javad; Babaei, Meisam; Hashemi, Narges; Schnur, Rhonda E; Suri, Mohnish; Setzke, Jonas; Wagner, Matias; Brunet, Theresa; Grochowski, Christopher M; Emrick, Lisa; Chung, Wendy K; Hellmich, Ute A; Schmidts, Miriam; Lupski, James R; Galehdari, Hamid; Severino, Mariasavina; Houlden, Henry; Hübner, Christian A

The Many Faces of Congenital Anomalies of the Kidney and Urinary Tract

肾脏和泌尿系统先天性异常的多种表现形式

Schmidts, Miriam; Qader, Md Abdul

Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine

对配对代谢组的遗传学研究揭示了血浆和尿液界面处的酶促和转运过程。

Schlosser, Pascal; Scherer, Nora; Grundner-Culemann, Franziska; Monteiro-Martins, Sara; Haug, Stefan; Steinbrenner, Inga; Uluvar, Burulça; Wuttke, Matthias; Cheng, Yurong; Ekici, Arif B; Gyimesi, Gergely; Karoly, Edward D; Kotsis, Fruzsina; Mielke, Johanna; Gomez, Maria F; Yu, Bing; Grams, Morgan E; Coresh, Josef; Boerwinkle, Eric; Köttgen, Michael; Kronenberg, Florian; Meiselbach, Heike; Mohney, Robert P; Akilesh, Shreeram; Schmidts, Miriam; Hediger, Matthias A; Schultheiss, Ulla T; Eckardt, Kai-Uwe; Oefner, Peter J; Sekula, Peggy; Li, Yong; Köttgen, Anna

Emerging principles of primary cilia dynamics in controlling tissue organization and function

初级纤毛动力学在控制组织结构和功能方面的新兴原理

Gopalakrishnan, Jay; Feistel, Kerstin; Friedrich, Benjamin M; Grapin-Botton, Anne; Jurisch-Yaksi, Nathalie; Mass, Elvira; Mick, David U; Müller, Roman-Ulrich; May-Simera, Helen; Schermer, Bernhard; Schmidts, Miriam; Walentek, Peter; Wachten, Dagmar

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

IFT74 变异会导致小鼠和人类出现骨骼纤毛病和纤毛运动缺陷。

Bakey, Zeineb; Cabrera, Oscar A; Hoefele, Julia; Antony, Dinu; Wu, Kaman; Stuck, Michael W; Micha, Dimitra; Eguether, Thibaut; Smith, Abigail O; van der Wel, Nicole N; Wagner, Matias; Strittmatter, Lara; Beales, Philip L; Jonassen, Julie A; Thiffault, Isabelle; Cadieux-Dion, Maxime; Boyes, Laura; Sharif, Saba; Tüysüz, Beyhan; Dunstheimer, Desiree; Niessen, Hans W M; Devine, William; Lo, Cecilia W; Mitchison, Hannah M; Schmidts, Miriam; Pazour, Gregory J