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

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

常染色体隐性遗传TOR1A相关疾病的临床和遗传谱

Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; Day-Salvatore, Debra-Lynn; Martínez-González, Maria Jesús; Levandoski, Kristin M; Bedoukian, Emma; Madan-Khetarpal, Suneeta; Idleburg, Michaela J; Menezes, Minal Juliet; Siddharth, Aishwarya; Platzer, Konrad; Oppermann, Henry; Smitka, Martin; Collins, Felicity; Lek, Monkol; Shahrooei, Mohmmad; Ghavideldarestani, Maryam; Herman, Isabella; Rendu, John; Faure, Julien; Baker, Janice; Bhambhani, Vikas; Calderwood, Laurel; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh Sadat; Hashemi, Narges; Doosti, Mohammad; Safi, Mojtaba; Ahangari, Najmeh; Torbati, Paria Najarzadeh; Abedini, Soheila; Salpietro, Vincenzo; Gulec, Elif Yilmaz; Eshaghian, Safieh; Ghazavi, Mohammadreza; Pascher, Michael T; Vogel, Marina; Abicht, Angela; Moutton, Sébastien; Bruel, Ange-Line; Rieubland, Claudine; Gallati, Sabina; Strom, Tim M; Lochmüller, Hanns; Mohammadi, Mohammad Hasan; Alvi, Javeria Raza; Zackai, Elaine H; Keena, Beth A; Skraban, Cara M; Berger, Seth I; Andrew, Erin H; Rahimian, Elham; Morrow, Michelle M; Wentzensen, Ingrid M; Millan, Francisca; Henderson, Lindsay B; Dafsari, Hormos Salimi; Jungbluth, Heinz; Gomez-Ospina, Natalia; McRae, Anne; Peter, Merlene; Veltra, Danai; Marinakis, Nikolaos M; Sofocleous, Christalena; Ashrafzadeh, Farah; Pehlivan, Davut; Lemke, Johannes R; Melki, Judith; Benezit, Audrey; Bauer, Peter; Weis, Denisa; Lupski, James R; Senderek, Jan; Christodoulou, John; Chung, Wendy K; Goodchild, Rose; Offiah, Amaka C; Moreno-De-Luca, Andres; Suri, Mohnish; Ebrahimi-Fakhari, Darius; Houlden, Henry; Maroofian, Reza

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

RNA测序在孟德尔遗传病诊断中的临床应用

Yépez, Vicente A; Gusic, Mirjana; Kopajtich, Robert; Mertes, Christian; Smith, Nicholas H; Alston, Charlotte L; Ban, Rui; Beblo, Skadi; Berutti, Riccardo; Blessing, Holger; Ciara, Elżbieta; Distelmaier, Felix; Freisinger, Peter; Häberle, Johannes; Hayflick, Susan J; Hempel, Maja; Itkis, Yulia S; Kishita, Yoshihito; Klopstock, Thomas; Krylova, Tatiana D; Lamperti, Costanza; Lenz, Dominic; Makowski, Christine; Mosegaard, Signe; Müller, Michaela F; Muñoz-Pujol, Gerard; Nadel, Agnieszka; Ohtake, Akira; Okazaki, Yasushi; Procopio, Elena; Schwarzmayr, Thomas; Smet, Joél; Staufner, Christian; Stenton, Sarah L; Strom, Tim M; Terrile, Caterina; Tort, Frederic; Van Coster, Rudy; Vanlander, Arnaud; Wagner, Matias; Xu, Manting; Fang, Fang; Ghezzi, Daniele; Mayr, Johannes A; Piekutowska-Abramczuk, Dorota; Ribes, Antonia; Rötig, Agnès; Taylor, Robert W; Wortmann, Saskia B; Murayama, Kei; Meitinger, Thomas; Gagneur, Julien; Prokisch, Holger

Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases

根据基因数据库计算的常染色体隐性遗传性脑铁沉积症(NBIA)终生风险

Kolarova, Hana; Tan, Jing; Strom, Tim M; Meitinger, Thomas; Wagner, Matias; Klopstock, Thomas

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry

通过全外显子组测序和候选基因靶向富集测序揭示中等外显率易感基因对欧洲血统女性乳腺癌的贡献

Dumont, Martine; Weber-Lassalle, Nana; Joly-Beauparlant, Charles; Ernst, Corinna; Droit, Arnaud; Feng, Bing-Jian; Dubois, Stéphane; Collin-Deschesnes, Annie-Claude; Soucy, Penny; Vallée, Maxime; Fournier, Frédéric; Lemaçon, Audrey; Adank, Muriel A; Allen, Jamie; Altmüller, Janine; Arnold, Norbert; Ausems, Margreet G E M; Berutti, Riccardo; Bolla, Manjeet K; Bull, Shelley; Carvalho, Sara; Cornelissen, Sten; Dufault, Michael R; Dunning, Alison M; Engel, Christoph; Gehrig, Andrea; Geurts-Giele, Willemina R R; Gieger, Christian; Green, Jessica; Hackmann, Karl; Helmy, Mohamed; Hentschel, Julia; Hogervorst, Frans B L; Hollestelle, Antoinette; Hooning, Maartje J; Horváth, Judit; Ikram, M Arfan; Kaulfuß, Silke; Keeman, Renske; Kuang, Da; Luccarini, Craig; Maier, Wolfgang; Martens, John W M; Niederacher, Dieter; Nürnberg, Peter; Ott, Claus-Eric; Peters, Annette; Pharoah, Paul D P; Ramirez, Alfredo; Ramser, Juliane; Riedel-Heller, Steffi; Schmidt, Gunnar; Shah, Mitul; Scherer, Martin; Stäbler, Antje; Strom, Tim M; Sutter, Christian; Thiele, Holger; van Asperen, Christi J; van der Kolk, Lizet; van der Luijt, Rob B; Volk, Alexander E; Wagner, Michael; Waisfisz, Quinten; Wang, Qin; Wang-Gohrke, Shan; Weber, Bernhard H F; Genome Of The Netherlands Project; Ghs Study Group; Devilee, Peter; Tavtigian, Sean; Bader, Gary D; Meindl, Alfons; Goldgar, David E; Andrulis, Irene L; Schmutzler, Rita K; Easton, Douglas F; Schmidt, Marjanka K; Hahnen, Eric; Simard, Jacques

Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS

对疑似患有遗传性局灶节段性肾小球硬化症 (FSGS) 的成年人进行全面的基因检测,包括外显子组测序,以识别致病变异。

Braunisch, Matthias Christoph; Riedhammer, Korbinian Maria; Herr, Pierre-Maurice; Draut, Sarah; Günthner, Roman; Wagner, Matias; Weidenbusch, Marc; Lungu, Adrian; Alhaddad, Bader; Renders, Lutz; Strom, Tim M; Heemann, Uwe; Meitinger, Thomas; Schmaderer, Christoph; Hoefele, Julia

A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke

在伴有儿童卒中的家族性斯内登综合征中发现 NOTCH3 纯合无义突变。

Greisenegger, Elli Katharine; Llufriu, Sara; Chamorro, Angel; Cervera, Alvaro; Jimenez-Escrig, Adriano; Rappersberger, Klemens; Marik, Wolfgang; Greisenegger, Stefan; Stögmann, Elisabeth; Kopp, Tamara; Strom, Tim M; Henes, Jörg; Joutel, Anne; Zimprich, Alexander

A novel homozygous variant in exon 10 of the GALNT3 gene causing hyperphosphatemic familial tumoral calcinosis in a family from North India

印度北部一个家族中,GALNT3基因第10外显子上的一种新型纯合变异导致高磷血症性家族性肿瘤性钙质沉着症。

Dayal, Devi; Gupta, Shruti; Kumar, Rakesh; Srinivasan, Radhika; Lorenz-Depiereux, Bettina; Strom, Tim M

Monogenic variants in dystonia: an exome-wide sequencing study

肌张力障碍的单基因变异:一项全外显子组测序研究

Zech, Michael; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpál, Ján; Dincer, Yasemin; Vill, Katharina; Distelmaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fečíková, Anna; Havránková, Petra; Roth, Jan; Příhodová, Iva; Adamovičová, Miriam; Ulmanová, Olga; Bechyně, Karel; Danhofer, Pavlína; Veselý, Branislav; Haň, Vladimír; Pavelekova, Petra; Gdovinová, Zuzana; Mantel, Tobias; Meindl, Tobias; Sitzberger, Alexandra; Schröder, Sebastian; Blaschek, Astrid; Roser, Timo; Bonfert, Michaela V; Haberlandt, Edda; Plecko, Barbara; Leineweber, Birgit; Berweck, Steffen; Herberhold, Thomas; Langguth, Berthold; Švantnerová, Jana; Minár, Michal; Ramos-Rivera, Gonzalo Alonso; Wojcik, Monica H; Pajusalu, Sander; Õunap, Katrin; Schatz, Ulrich A; Pölsler, Laura; Milenkovic, Ivan; Laccone, Franco; Pilshofer, Veronika; Colombo, Roberto; Patzer, Steffi; Iuso, Arcangela; Vera, Julia; Troncoso, Monica; Fang, Fang; Prokisch, Holger; Wilbert, Friederike; Eckenweiler, Matthias; Graf, Elisabeth; Westphal, Dominik S; Riedhammer, Korbinian M; Brunet, Theresa; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M; Hecht, Martin; Baumann, Matthias; Wolf, Marc; Telegrafi, Aida; Person, Richard E; Zamora, Francisca Millan; Henderson, Lindsay B; Weise, David; Musacchio, Thomas; Volkmann, Jens; Szuto, Anna; Becker, Jessica; Cremer, Kirsten; Sycha, Thomas; Zimprich, Fritz; Kraus, Verena; Makowski, Christine; Gonzalez-Alegre, Pedro; Bardakjian, Tanya M; Ozelius, Laurie J; Vetro, Annalisa; Guerrini, Renzo; Maier, Esther; Borggraefe, Ingo; Kuster, Alice; Wortmann, Saskia B; Hackenberg, Annette; Steinfeld, Robert; Assmann, Birgit; Staufner, Christian; Opladen, Thomas; Růžička, Evžen; Cohn, Ronald D; Dyment, David; Chung, Wendy K; Engels, Hartmut; Ceballos-Baumann, Andres; Ploski, Rafal; Daumke, Oliver; Haslinger, Bernhard; Mall, Volker; Oexle, Konrad; Winkelmann, Juliane

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

MN1 C端截断综合征是一种新型的神经发育和颅面疾病,伴有部分菱脑融合。

Mak, Christopher C Y; Doherty, Dan; Lin, Angela E; Vegas, Nancy; Cho, Megan T; Viot, Géraldine; Dimartino, Clémantine; Weisfeld-Adams, James D; Lessel, Davor; Joss, Shelagh; Li, Chumei; Gonzaga-Jauregui, Claudia; Zarate, Yuri A; Ehmke, Nadja; Horn, Denise; Troyer, Caitlin; Kant, Sarina G; Lee, Youngha; Ishak, Gisele E; Leung, Gordon; Barone Pritchard, Amanda; Yang, Sandra; Bend, Eric G; Filippini, Francesca; Roadhouse, Chelsea; Lebrun, Nicolas; Mehaffey, Michele G; Martin, Pierre-Marie; Apple, Benjamin; Millan, Francisca; Puk, Oliver; Hoffer, Mariette J V; Henderson, Lindsay B; McGowan, Ruth; Wentzensen, Ingrid M; Pei, Steven; Zahir, Farah R; Yu, Mullin; Gibson, William T; Seman, Ann; Steeves, Marcie; Murrell, Jill R; Luettgen, Sabine; Francisco, Elizabeth; Strom, Tim M; Amlie-Wolf, Louise; Kaindl, Angela M; Wilson, William G; Halbach, Sara; Basel-Salmon, Lina; Lev-El, Noa; Denecke, Jonas; Vissers, Lisenka E L M; Radtke, Kelly; Chelly, Jamel; Zackai, Elaine; Friedman, Jan M; Bamshad, Michael J; Nickerson, Deborah A; Reid, Russell R; Devriendt, Koenraad; Chae, Jong-Hee; Stolerman, Elliot; McDougall, Carey; Powis, Zöe; Bienvenu, Thierry; Tan, Tiong Y; Orenstein, Naama; Dobyns, William B; Shieh, Joseph T; Choi, Murim; Waggoner, Darrel; Gripp, Karen W; Parker, Michael J; Stoler, Joan; Lyonnet, Stanislas; Cormier-Daire, Valérie; Viskochil, David; Hoffman, Trevor L; Amiel, Jeanne; Chung, Brian H Y; Gordon, Christopher T

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases

根据基因数据库计算的常染色体隐性遗传线粒体疾病的终生风险

Tan, Jing; Wagner, Matias; Stenton, Sarah L; Strom, Tim M; Wortmann, Saskia B; Prokisch, Holger; Meitinger, Thomas; Oexle, Konrad; Klopstock, Thomas