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

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

DNA结合亲和力和特异性决定了BCL11B相关疾病的表型多样性

Lessel, Ivana; Baresic, Anja; Chinn, Ivan K; May, Jonathan; Goenka, Anu; Chandler, Kate E; Posey, Jennifer E; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; Calle-Martín, Oscar de la; Capra, Valeria; Cardenas, Paul; Chappé, Céline; Chong, Hey J; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christèle; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K; Gangi, Silvana; George-Abraham, Jaya K; Gucsavas-Calikoglu, Muge; Haack, Tobias B; Hadonou, Medard; Hanker, Britta; Hüning, Irina; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma; Jin, Jay J; Jorge, Alexander A L; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Kölbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M; Leppälä, Juha; Luu, Sharon M; Lyon, Gholson J; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K G; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R; Tolosa, Eva; Lessel, Davor

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy

编码囊泡AP-5复合物不同亚基的三个基因的双等位基因变异会导致遗传性黄斑营养不良。

Karolina Kaminska,Francesca Cancellieri,Mathieu Quinodoz,Abigail R Moye,Miriam Bauwens,Siying Lin,Lucas Janeschitz-Kriegl,Tamar Hayman,Pilar Barberán-Martínez,Regina Schlaeger,Filip Van den Broeck,Almudena Ávila Fernández,Lidia Fernández-Caballero,Irene Perea-Romero,Gema García-García,David Salom,Pascale Mazzola,Theresia Zuleger,Karin Poths,Tobias B Haack,Julie Jacob,Sascha Vermeer,Frédérique Terbeek,Nicolas Feltgen,Alexandre P Moulin,Louisa Koutroumanou,George Papadakis,Andrew C Browning,Savita Madhusudhan,Lotta Gränse,Eyal Banin,Ana Berta Sousa,Luisa Coutinho Santos,Laura Kuehlewein,Pietro De Angeli,Bart P Leroy,Omar A Mahroo,Fay Sedgwick,James Eden,Maximilian Pfau,Sten Andréasson,Hendrik P N Scholl,Carmen Ayuso,José M Millán,Dror Sharon,Miltiadis K Tsilimbaris,Veronika Vaclavik,Hoai V Tran,Tamar Ben-Yosef,Elfride De Baere,Andrew R Webster,Gavin Arno,Panagiotis I Sergouniotis,Susanne Kohl,Cristina Santos,Carlo Rivolta

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.

编码囊泡 AP-5 复合物不同亚基的三个基因的双等位基因变异会导致遗传性黄斑营养不良

Kaminska Karolina, Cancellieri Francesca, Quinodoz Mathieu, Moye Abigail R, Bauwens Miriam, Lin Siying, Janeschitz-Kriegl Lucas, Hayman Tamar, Barberán-Martínez Pilar, Schlaeger Regina, Van den Broeck Filip, Ávila Fernández Almudena, Fernández-Caballero Lidia, Perea-Romero Irene, García-García Gema, Salom David, Mazzola Pascale, Zuleger Theresia, Poths Karin, Haack Tobias B, Jacob Julie, Vermeer Sascha, Terbeek Frédérique, Feltgen Nicolas, Moulin Alexandre P, Koutroumanou Louisa, Papadakis George, Browning Andrew C, Madhusudhan Savita, Gränse Lotta, Banin Eyal, Sousa Ana Berta, Coutinho Santos Luisa, Kuehlewein Laura, De Angeli Pietro, Leroy Bart P, Mahroo Omar A, Sedgwick Fay, Eden James, Pfau Maximilian, Andréasson Sten, Scholl Hendrik P N, Ayuso Carmen, Millán José M, Sharon Dror, Tsilimbaris Miltiadis K, Vaclavik Veronika, Tran Hoai V, Ben-Yosef Tamar, De Baere Elfride, Webster Andrew R, Arno Gavin, Sergouniotis Panagiotis I, Kohl Susanne, Santos Cristina, Rivolta Carlo

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

POC5基因的双等位基因功能缺失变异会导致视网膜、内分泌和神经肌肉纤毛病综合征。

Vulto-van Silfhout, Anneke T; Jazet, Ingrid M; Yzer, Suzanne; Pas, Jeroen; Demirdas, Serwet; van Rossum, Elisabeth F C; Thiadens, Alberta A H J; van Beek, Ronald; Haer-Wigman, Lonneke; Barge-Schaapveld, Daniela Q C M; Brasch-Andersen, Charlotte; Frost, Simon; Bauwens, Miriam; De Baere, Elfride; Balikova, Irina; Van den Broeck, Filip; Weisz-Hubshman, Monika; Joset, Pascal; Miny, Peter; Filges, Isabel; Kohl, Susanne; De Angeli, Pietro; Kühlewein, Laura; Bodenbender, Jan-Philipp; Haack, Tobias; Poths, Karin; Fernandez-Caballero, Lidia; Corton, Marta; Blanco Kelly, Fiona; Ayuso, Carmen; Martínez-Esteban, Peggy; Vissing, John; Díaz-Manera, Jordi; Straub, Volker; Töpf, Ana; Lin, Siying; Arno, Gavin; Macken, William L; Spillane, Jennifer; Ramachandran, Radha; de Vrieze, Erik; van Ham, Tjakko; Roosing, Susanne; Oud, Machteld M

Smart management of single surgical instruments through unique device identification (UDI) barcode tracking system for enhancing sterilization quality and patient safety

通过独特的器械识别(UDI)条形码追踪系统对单件手术器械进行智能管理,以提高灭菌质量和患者安全。

Hoyt, Brandy M; Messacar, Kevin; Sick-Samuels, Anna C; Jaggi, Preeti; Hamilton, Stacey L; Janelle, Sarah; Parker, Sarah K; Chakravorty, Anil; Newman, Nicholas; Veltri, Courtney; Spivak, Emily; Hecker, Michelle; Hojat, Leila; Dhaubhadel, Pragya; Limgala, Prasanthi; Stafford, Heather; Shelly, Mark; Vinaixa, Conor; Pritchard, Haley; Rodriguez Nava, Guillermo; Grieshop, Matt; Zulli, Alessandro; Miranti, Eugenia; Tariq, Wajeeha; Cardenas, Erika Paola Viana; Sampson, Mindy; Boehm, Alexandria; Bhatt, Ami; Salinas, Jorge; Godwin, Simone; Meyer, Becky; Tobey, Kelley; Rhodes, Tracey; Tandy, Corinne; Megan, Edwards; Wilson, Christopher; Witt, Lucy; Prakash Asrani, Radhika; Bin Kim, Hyun; Jones, Ashley; Paciullo, Kristen; Shabbir, Hasan; Suchindran, Sujit; Jacob, Jesse T; Robichaux, Chad; Fridkin, Scott; Guran, Rachel; Hankins, Richard; Kneifl, Missy; Neumann, Miranda; Grashorn, Elizabeth; Cawcutt, Kelly; Zou, Michael; Onguti, Sharon; Nelson, George; Herrera, Nico; Staub, Milner; Daniels, Titus; Zhao, Zhiguo; Ruiz Holgado, Maria Celeste; Marsh, Kassandra; Saad, Anasemon; Dubrovskaya, Yanina; Catlin, Susan; Haddad, Anne; Stier, Elisia; Brennan, Brenda; Malani, Anurag; Pogue, Jason; Malkawi, Lujain; Abbas, Ume; Burke, Patrick; Mullins, Wanda; Fraser, Thomas; Seidelman, Jessica; Gettler, Erin; Pena, Heather; McGugan, Lynn; Smith, Becky; Anderson, Deverick; Tam, Patrick; Neelakanta, Anupama; Fischer, Kristin; Mahlet, Gebrekidan; Layell, Jessica; Kester, Shelley; Masten, Ben; Ferris, Andrew; Passaretti, Catherine; Malik, Shehryar; Ziembicki, Jenny; Musgrove, Christopher; Bornstein, Abigail; Egr, Francesco; Palladino, Katie; Pieri, Nicole; Hansen, Meghan; Emin Samasas, Selahattin; Dixon, Heather; Yassin, Mohamed; Feldman, Adina; Bhatti, Micah; Poths, Rebecca; Powell, Jane; Handley, Guy; Spallone, Amy; Ramamurthy, Pranav; Schimmel, Jennifer; Samuel, Sherin; Shah, Elisha; Groudan, Kevin; D’Agostino, Lydia; Greeff, Yesenia; Kim, Mijung; Kang, JaHyun; Nakato, Shillah; Esagala, Martin; Wu, Chin-Ting; Handley, Guy; Shropshire, William; Cantu, Sherry; Powell, Jane; Bhatti, Micah; Shelburne, Samuel; Spallone, Amy; Akther, Fairoze Masuda; Sumon, Shariful Amin; Harun, Md Golam Dostogir; Murray, Tom; Wright, Jayson; Peaper, David; Bizzarro, Matthew; Fleiss, Noa; Krechevsky, Kathy; Rivera-Vinas, Jose; Hitchings, Reese; Durant, Thomas; Muleta, Daniel; Villegas, Raquel; Velrajan, Srilakshmi; Bailey, Cherlly; Taylor, Jackie; Patel, Dipen M; Harriott, Melphine; Norris, Michael; Kuruma, Kenta; Tada, Ayumi; Funakoshi, Hanako; Shibata, Meiwa; Horikoshi, Yuho; Hasegawa, Shinya; Sekar, Poorani; Ford, Bradley; Halliwill, Katie; Brust, Karen; Bastow, Samantha; Yu, Kalvin; Robins, Alison; Kim, Kihe; Wright, Kim; Allen, Mindy; Parsons, Tyler; Chen, Caroline; Connor, Erin; Wen, Josephine; Thursky, Karin; James, Rodney; Wiltfang, Nicole; Brust, Karen; Abosi, Oluchi; Kobayashi, Takaaki; Krigbaum, Elizabeth; Chen, Caroline; Wen, Josephine; Ierano, Courtney; Maleki, Jenna; Spelman, Tim; James, Rodney; Thursky, Karin; Hall, Lisa; Piepenbrink, Blake; Abrantes-Figueiredo, Jessica; Nash, Brenton; Wiskirchen, Dora; Bischoff, Werner; Evans, Joni; Passaretti, Catherine; Fernandez, Andrea; Feldman, Adina; Cantu, Sherry; Poths, Rebecca; Powell, Jane; Handley, Guy; Spallone, Amy; Langston, Taylor; Beltran, Jessica; Chirca, Ioana; Marano, Alexis; Mott, Allison; Webb, Risa; Fletcher, Sheila; Grubb, Melinda; Finn, Jennifer; Walters-Mitchell, Tiana; Rand, Heather; Miles, Iman; Wooters, Jacqueline; Neelakanta, Anupama; Ilboudo, Christelle; Monsees, Elizabeth; Buford, La Sonya; Collazo, Ashley; Trautner, Barbara; Campbell, Rosalyn; Mancera, Azalia; Olmeda, Kiara; Faustinella, Fabrizia; Sidani, Mohamad; Danek, Lisa; Barning, Kenneth; Paasche-Orlow, Michael; Zoorob, Roger; Grigoryan, Larissa; Brait, Johanna; Alsoubani, Majd; Andujar-Vazquez, Gabriela; Tyner, Kate; Scebold, Jody; Ashraf, M Salman; German, Dan; Martinez, Rebecca; McConville, Josette; Soma, Mounica; Teran Plasencia, Juan; Kim, Elizabeth; Witt, Lucy; Wilber, Eli; Park, Stacy; Cox, Heather; Donohue, Lindsay; Mathers, Amy; Murray, Tom; Lee, Hanna; Peaper, David; Bizzarro, Matthew; Fleiss, Noa; Sampson, Mindy; Do, Angel; Fox, Paige; Miranti, Eugenia; Rodriguez Nava, Guillermo; McIntyre, Karen; Dolottseva, Inna; Kimball, Erika; Salinas, Jorge; D’Souza, Aarikha; McIntyre, Kisha; Snyders, Rachael; White, Brooklyn; Blank, Christopher; Sherman, Cassandra; Dethloff, Megan; Zirges, Christine; Chaney, Laken; Marschall, Jonas; Stuckart, Erik; Walker, Casey; McKie, Brooke; Echols, Jane; Moody, Julia; Sands, Ken; Morris, Jordan; Gambrell, Ashley; Godwin, Simone; Pathak, Aaron; Lasco, Todd; Al Mohajer, Mayar; Kisame, Rogers; Nguyen, Van H; Mould-Quevedo, Joaquin F; Rennekamp, Andrew; Samreen, Ayesha; Apenhorst, Debra; Rasmusson, Jenna; Swift, Melanie; Shah, Aditya; Rennekamp, Samantha; Totten, Arthur; Adams, Tamasin; Carpenter, Kent; Rangan, Pooja; Agarwal, Sumit; Hayes, Justin; Ampel, Neil; Marschall, Jonas; L’Etoile, Nathan; Li, Yun; Swami, Sanjeev; Polsky, Tracey; Smith, Kenneth; White, Leomar; Severe, Arabel; Herman, Lorelei; McGuire-Wolfe, Christine; Jai, Claire; Garcia, Rosemary; Davis, Victoria; Jones, Jeffrey; Beals, Kristen; Moody, Julia; Sands, Ken; Badejogbin, Aderonke; Reid, Sherry R; Oboho, Ikwo; Silva, Denisse; Lindstrom, Tanaya; Ramirez, Mary; Varghese, Cinemol; Njeri, Moses; Mogeni, Emily; Shahim, Patricia; Zakaria, Fadilah; Philip Conceicao, Edwin; Venkatachalam, Indumathi; Myat Oo, Aung; Jean Sim, Xiang Ying; Goswami, Rinki; Lo Piccolo, Anthony; Miller, Rachel; Frank, Maria; Levine, Corri; Chan, Justin; Hunter Fraker, J; Lee, Matthew; Smith, Eleanor; Shay, Sabra; Phe, Kady; Zidaru, Andrei; Al Mohajer, Mayar; Bailey, Cherlly; Rocha, Cody; Godwin, Simone; Harriott, Melphine; L’Etoile, Nathan; Li, Yun; Gladstone, Cody; Hoegg, Cindy; Scott, Amanda; Hayes, Ericka; Coffin, Susan; Grimes, Logan; Chitavi, Salome; Kohut, Michael; Braun, Barbara; Buckel, Whitney; Zetts, Rachel; Hyun, David; Fischer, Julia; Walsh, Gabryjela; Urruita, Humberto; Paley, Adina; Lorenzo, Michael; Schimmel, Jennifer; Ssentongo, Paddy; Hale, Cory; Ssentongo, Anna; Ingram, David; Seidelman, Jessica; Pena, Heather; Hunt, Alexandria; Wood, Brittain; Padgette, Polly; Gettler, Erin; Keenan, Jeffrey; Anderson, Deverick; Smith, Becky; Roessler, Eric; Benjamin, Andrew; Harsha Manukonda, Divya; Pisano, Jennifer; Bell, Elizabeth; Foy-Crowder, Alexia; Britt, Jessica; Stuart, Sean; Kohn, Joseph; Withers, Sarah; Crockett, Amy; Bailey, Pam; Lee, Pamela; Nguyen, Marina; LeBrun, Michelle; Fong, Gary; Miller, Loren; McCauley, Brian; Evans, Martin; Hicks, Natalie; Simbartl, Loretta; Yap, Jiann Wen; Ismail, Neni Iffanida; Lee, Cheng Shoou; Oh, Ding Yuan; Kim, Da-Mi; Lee, Ji-Young; Lee, Dong-Gun; Azharry Rully, Muhammad; Tristanita Marsubrin, Putri Maharani; Dewi Roeslani, Rosalina; Kautsar, Ahmad; Dwi Putri, Nina; Sylvania Oswari, Jessica; Shan, Lau Hui; Ke Juin, Wong; Moy, Fong Siew; Bee Yian, Sandra Chew; Kwak, Inhye; Shin, Myoung-jin; Kim, Su young; Lee, Eunsil; Lee, Darae; Kim, Eu Suk; Beh, Darius LL; Kum, Jia Qi; Tan, Glorijoy; Ang, Sue Fern; Poh, Bee Fong; Ang, Brenda; Kumar, Navin; Sundari, Titi; Setiawaty, Vivi; Mariana, Nina; Widiantari, Aninda Dinar; Sitompul, Pompini Agustina; Silalahi, Hotmarida; Agustuti, Tri Diani; Melandari, Yustina; Murtiani, Farida; Yuliaty, Rina; Chen, Yuen-Ju; Tsai, Yu-Ting; Wu, Huan-Yi; Hong, Yuan-Ting; Lin, Hui-Ping; Saharman, Yulia Rosa; Sari, Indah Puspita; Ibrahim, R Fera; Chen, Lie Khie; Shakinah, Sharifah; Abusalah, Manal Abdel Haleem A; Yean, Chan Yean; Ismail, Aziah; Zaidah, Abdul Rahman; Sik Jang, Woong; Bae, Ji Hoon; Cho, Min-Chul; Lim, Chae Seung; Fadrian, Fadrian; Linosefa, Linosefa; Ahmad, Armen; Simanjuntak, Rohayat Bilmahdi; Yasena Putri, Vidola; Hein Aung, Aung; Mar Kyaw, Win; Lay See, Ong; Zhi Jing, Joey Phua; Jian Wei, Sim; Ying Wei, Tang; Wei-Yen, Lim; Ping Angela, Chow Li; Liu, Jr-Huei; Wu, Chu-Ying; Liang, Wei-Ting; Hsu, Min-Fen; Liu, Chiu-Yu

Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies

涉及ABCA4的双基因变异在视网膜营养不良中的临床表现

Wolfram, Lasse; Merle, David A; Kühlewein, Laura; Reith, Milda; Kempf, Melanie; Stingl, Krunoslav; Haack, Tobias; Mazzola, Pascale; Poths, Karin; Weisschuh, Nicole; Wissinger, Bernd; Kohl, Susanne; Stingl, Katarina

Analysis of blood-based gene expression in idiopathic Parkinson disease

特发性帕金森病血液基因表达分析

Shamir, Ron; Klein, Christine; Amar, David; Vollstedt, Eva-Juliane; Bonin, Michael; Usenovic, Marija; Wong, Yvette C; Maver, Ales; Poths, Sven; Safer, Hershel; Corvol, Jean-Christophe; Lesage, Suzanne; Lavi, Ofer; Deuschl, Günther; Kuhlenbaeumer, Gregor; Pawlack, Heike; Ulitsky, Igor; Kasten, Meike; Riess, Olaf; Brice, Alexis; Peterlin, Borut; Krainc, Dimitri

A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients

转录组和甲基化分析相结合,揭示了MRKH患者中与胚胎发育相关的候选基因。

Rall, Katharina; Barresi, Gianmaria; Walter, Michael; Poths, Sven; Haebig, Karina; Schaeferhoff, Karin; Schoenfisch, Birgitt; Riess, Olaf; Wallwiener, Diethelm; Bonin, Michael; Brucker, Sara

Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy

用于检测导致肥厚型心肌病突变的基于芯片的重测序分析

Waldmüller, Stephan; Müller, Melanie; Rackebrandt, Kirsten; Binner, Priska; Poths, Sven; Bonin, Michael; Scheffold, Thomas

Whole genome expression analyses of single- and double-knock-out mice implicate partially overlapping functions of alpha- and gamma-synuclein

对单基因敲除和双基因敲除小鼠的全基因组表达分析表明,α-突触核蛋白和γ-突触核蛋白的功能存在部分重叠。

Kuhn, Melanie; Haebig, Karina; Bonin, Michael; Ninkina, Natalia; Buchman, Vladimir L; Poths, Sven; Riess, Olaf