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

The effect of a specific vitamin supplement containing L-methylfolate (Ocufolin forte) in patients with neovascular age-related macular degeneration

含L-甲基叶酸的特定维生素补充剂(Ocufolin forte)对新生血管性年龄相关性黄斑变性患者的影响

Josifova, Tatjana; Konieczka, Katarzyna; Schötzau, Andreas; Flammer, Josef

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease

结合优先排序策略和功能研究提名遗传性视网膜疾病的 5'UTR 变异

Alfredo Dueñas Rey, Marta Del Pozo Valero #, Manon Bouckaert #, Katherine A Wood, Filip Van den Broeck, Malena Daich Varela, Huw B Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova; Genomics England Research Conso

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

CRELD1双等位基因变异会导致多系统综合征,包括神经发育表型、心律失常和频繁感染。

Lauren Jeffries ,Emily K Mis ,Kirsty McWalter ,Sandra Donkervoort ,Nina N Brodsky ,Jean-Marie Carpier ,Weizhen Ji ,Cristian Ionita ,Bhaskar Roy ,Jon S Morrow ,Armine Darbinyan ,Krishna Iyer ,Ritu B Aul ,Siddharth Banka ,Katherine R Chao ,Laura Cobbold ,Stacey Cohen ,Helena M Custodio ,Margaret Drummond-Borg ,Frances Elmslie ,Erika Finanger ,Bryan E Hainline ,Ingo Helbig ,Stacy Hewson ,Ying Hu ,Adam Jackson ,Dragana Josifova ,Monica Konstantino ,Meganne E Leach ,Bryan Mak ,David McCormick ,Elisabeth McGee ,Stanley Nelson ,Joanne Nguyen ,Kimberly Nugent ,Lucy Ortega ,Howard P Goodkin ,Elizabeth Roeder ,Sani Roy ,Katie Sapp ,Dimah Saade ,Sanjay M Sisodiya ,Karen Stals ,Shelley Towner ,William Wilson ,Carsten G Bönnemann ,Carrie L Lucas ,Saquib A Lakhani

Unusual OCT findings in a patient with CABP4-associated cone-rod synaptic disorder

CABP4相关锥杆突触紊乱患者的OCT检查结果异常

Tan, Jit Kai; Arno, Gavin; Josifova, Dragana; Mohamed, Moin D; Mahroo, Omar A

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

SLF2 和 SMC5 的致病性变异会导致染色体分节和嵌合型杂色超倍体。

Laura J Grange #,John J Reynolds #,Farid Ullah #,Bertrand Isidor #,Robert F Shearer,Xenia Latypova,Ryan M Baxley,Antony W Oliver,Anil Ganesh,Sophie L Cooke,Satpal S Jhujh,Gavin S McNee,Robert Hollingworth,Martin R Higgs,Toyoaki Natsume,Tahir Khan,Gabriel Á Martos-Moreno,Sharon Chupp,Christopher G Mathew,David Parry,Michael A Simpson,Nahid Nahavandi,Zafer Yüksel,Mojgan Drasdo,Anja Kron,Petra Vogt,Annemarie Jonasson,Saad Ahmed Seth,Claudia Gonzaga-Jauregui,Karlla W Brigatti,Alexander P A Stegmann,Masato Kanemaki,Dragana Josifova,Yuri Uchiyama,Yukiko Oh,Akira Morimoto,Hitoshi Osaka,Zineb Ammous,Jesús Argente,Naomichi Matsumoto,Constance T R M Stumpel,Alexander M R Taylor,Andrew P Jackson,Anja-Katrin Bielinsky,Niels Mailand,Cedric Le Caignec,Erica E Davis,Grant S Stewart

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report

10万基因组计划在医疗保健领域罕见病诊断方面的试点项目——初步报告

Smedley, Damian; Smith, Katherine R; Martin, Antonio; Thomas, Ellen A; McDonagh, Ellen M; Cipriani, Valentina; Ellingford, Jamie M; Arno, Gavin; Tucci, Arianna; Vandrovcova, Jana; Chan, Georgia; Williams, Hywel J; Ratnaike, Thiloka; Wei, Wei; Stirrups, Kathleen; Ibanez, Kristina; Moutsianas, Loukas; Wielscher, Matthias; Need, Anna; Barnes, Michael R; Vestito, Letizia; Buchanan, James; Wordsworth, Sarah; Ashford, Sofie; Rehmström, Karola; Li, Emily; Fuller, Gavin; Twiss, Philip; Spasic-Boskovic, Olivera; Halsall, Sally; Floto, R Andres; Poole, Kenneth; Wagner, Annette; Mehta, Sarju G; Gurnell, Mark; Burrows, Nigel; James, Roger; Penkett, Christopher; Dewhurst, Eleanor; Gräf, Stefan; Mapeta, Rutendo; Kasanicki, Mary; Haworth, Andrea; Savage, Helen; Babcock, Melanie; Reese, Martin G; Bale, Mark; Baple, Emma; Boustred, Christopher; Brittain, Helen; de Burca, Anna; Bleda, Marta; Devereau, Andrew; Halai, Dina; Haraldsdottir, Eik; Hyder, Zerin; Kasperaviciute, Dalia; Patch, Christine; Polychronopoulos, Dimitris; Matchan, Angela; Sultana, Razvan; Ryten, Mina; Tavares, Ana L T; Tregidgo, Carolyn; Turnbull, Clare; Welland, Matthew; Wood, Suzanne; Snow, Catherine; Williams, Eleanor; Leigh, Sarah; Foulger, Rebecca E; Daugherty, Louise C; Niblock, Olivia; Leong, Ivone U S; Wright, Caroline F; Davies, Jim; Crichton, Charles; Welch, James; Woods, Kerrie; Abulhoul, Lara; Aurora, Paul; Bockenhauer, Detlef; Broomfield, Alexander; Cleary, Maureen A; Lam, Tanya; Dattani, Mehul; Footitt, Emma; Ganesan, Vijeya; Grunewald, Stephanie; Compeyrot-Lacassagne, Sandrine; Muntoni, Francesco; Pilkington, Clarissa; Quinlivan, Rosaline; Thapar, Nikhil; Wallis, Colin; Wedderburn, Lucy R; Worth, Austen; Bueser, Teofila; Compton, Cecilia; Deshpande, Charu; Fassihi, Hiva; Haque, Eshika; Izatt, Louise; Josifova, Dragana; Mohammed, Shehla; Robert, Leema; Rose, Sarah; Ruddy, Deborah; Sarkany, Robert; Say, Genevieve; Shaw, Adam C; Wolejko, Agata; Habib, Bishoy; Burns, Gavin; Hunter, Sarah; Grocock, Russell J; Humphray, Sean J; Robinson, Peter N; Haendel, Melissa; Simpson, Michael A; Banka, Siddharth; Clayton-Smith, Jill; Douzgou, Sofia; Hall, Georgina; Thomas, Huw B; O'Keefe, Raymond T; Michaelides, Michel; Moore, Anthony T; Malka, Sam; Pontikos, Nikolas; Browning, Andrew C; Straub, Volker; Gorman, Gráinne S; Horvath, Rita; Quinton, Richard; Schaefer, Andrew M; Yu-Wai-Man, Patrick; Turnbull, Doug M; McFarland, Robert; Taylor, Robert W; O'Connor, Emer; Yip, Janice; Newland, Katrina; Morris, Huw R; Polke, James; Wood, Nicholas W; Campbell, Carolyn; Camps, Carme; Gibson, Kate; Koelling, Nils; Lester, Tracy; Németh, Andrea H; Palles, Claire; Patel, Smita; Roy, Noemi B A; Sen, Arjune; Taylor, John; Cacheiro, Pilar; Jacobsen, Julius O; Seaby, Eleanor G; Davison, Val; Chitty, Lyn; Douglas, Angela; Naresh, Kikkeri; McMullan, Dom; Ellard, Sian; Temple, I Karen; Mumford, Andrew D; Wilson, Gill; Beales, Phil; Bitner-Glindzicz, Maria; Black, Graeme; Bradley, John R; Brennan, Paul; Burn, John; Chinnery, Patrick F; Elliott, Perry; Flinter, Frances; Houlden, Henry; Irving, Melita; Newman, William; Rahman, Shamima; Sayer, John A; Taylor, Jenny C; Webster, Andrew R; Wilkie, Andrew O M; Ouwehand, Willem H; Raymond, F Lucy; Chisholm, John; Hill, Sue; Bentley, David; Scott, Richard H; Fowler, Tom; Rendon, Augusto; Caulfield, Mark

Persistent Trigeminal Artery: A Novel Imaging Finding in CHARGE Syndrome

持续性三叉动脉:CHARGE综合征中的一种新型影像学发现

Siddiqui, A; Touska, P; Josifova, D; Connor, S E J

Does the gene matter? Genotype-phenotype and genotype-outcome associations in congenital melanocytic naevi

基因重要吗?先天性黑素细胞痣的基因型-表型和基因型-结果关联

S Polubothu, N McGuire, L Al-Olabi, W Baird, N Bulstrode, J Chalker, D Josifova, D Lomas, J O'Hara, J Ong, D Rampling, P Stadnik, A Thomas, E Wedgeworth, N J Sebire, V A Kinsler

EPMA-World Congress 2015: Bonn, Germany. 3-5 September 2015

2015年EPMA世界大会:德国波恩,2015年9月3-5日

Konieczka, Katarzyna; Koch, Simone; Binggeli, Tatjana; Schoetzau, Andreas; Kesselring, Juerg; Abraham, Jella-Andrea; Golubnitschaja, Olga; Akhmetov, Ildar; Andrews, Russell J; Quintana, Leonidas; Andrews, Russell J; Baban, Babak; Liu, Jun Yao; Qin, Xu; Wang, Tailing; Mozaffari, Mahmood S; Bati, Viktoriia V; Meleshko, Tamara V; Levchuk, Olga B; Boyko, Nadiya V; Bauer, Joanna; Boerner, Ewa; Podbielska, Halina; Bomba, Alojz; Petrov, Viktor O; Drobnych, Volodymyr G; Bubnov, Rostyslav V; Bykova, Oksana M; Boyko, Nadiya V; Brunner-La Rocca, Hans-Peter; Fleischhacker, Lutz; Golubnitschaja, Olga; Heemskerk, Frank; Helms, Thomas; Jaarsma, Tiny; Kinkorová, Judita; Ramaekers, Jan; Ruff, Peter; Schnur, Ivana; Vanoli, Emilio; Verdu, Jose; Brunner-La Rocca, Hans-Peter; Bubnov, Rostyslav V; Grabovetskyi, Sergiy A; Mykhalchenko, Olena M; Tymoshok, Natalia O; Shcherbakov, Oleksandr B; Semeniv, Igor P; Spivak, Mykola Y; Bubnov, Rostyslav V; Ostapenko, Tetyana V; Bubnov, Rostyslav V; Kobyliak, Nazarii M; Zholobak, Nadiya M; Spivak, Mykola Ya; Cauchi, John Paul; Cherepakhin, Dmitrii; Bakay, Marina; Borovikov, Artem; Suchkov, Sergey; Cieślik, Barbara; Migasiewicz, Agnieszka; Podbielska, Maria-Luiza; Pelleter, Markus; Giemza, Agnieszka; Podbielska, Halina; Cirak, Sebahattin; Del Re, Marzia; Bordi, Paola; Citi, Valentina; Palombi, Marta; Pinto, Carmine; Tiseo, Marcello; Danesi, Romano; Einhorn, Lukas; Fazekas, Judit; Muhr, Martina; Schoos, Alexandra; Panakova, Lucia; Herrmann, Ina; Manzano-Szalai, Krisztina; Oida, Kumiko; Fiebiger, Edda; Singer, Josef; Jensen-Jarolim, Erika; Elnar, Arpiné A; Ouamara, Nadia; Boyko, Nadiya; Coumoul, Xavier; Antignac, Jean-Philippe; Le Bizec, Bruno; Eppe, Gauthier; Renaut, Jenny; Bonn, Torsten; Guignard, Cédric; Ferrante, Margherita; Chiusano, Maria Liusa; Cuzzocrea, Salvatore; O’Keeffe, Gerard; Cryan, John; Bisson, Michelle; Barakat, Amina; Hmamouchi, Ihsane; Zawia, Nasser; Kanthasamy, Anumantha; Kisby, Glen E; Alves, Rui; Pérez, Oscar Villacañas; Burgard, Kim; Spencer, Peter; Bomba, Norbert; Haranta, Martin; Zaitseva, Nina; May, Irina; Grojean, Stéphanie; Body-Malapel, Mathilde; Harari, Florencia; Harari, Raul; Yeghiazaryan, Kristina; Golubnitschaja, Olga; Calabrese, Vittorio; Nemos, Christophe; Soulimani, Rachid; Evsevyeva, Maria E; Mishenko, Elena A; Kumukova, Zurida V; Chudnovsky, Evgeniy V; Smirnova, Tatyana A; Evsevyeva, Maria E; Ivanova, Ludmila V; Eremin, Michail V; Rostovtseva, Maria V; Evsevyeva, Maria E; Eremin, Michail V; Koshel, Vladimir I; Sergeeva, Oksana V; Konovalova, Nadesgda M; Girotra, Shantanu; Golubnitschaja, Olga; Golubnitschaja, Olga; Debald, Manuel; Kuhn, Walther; Yeghiazaryan, Kristina; Bubnov, Rostyslav V; Goncharenko, Vadym M; Lushchyk, Ulyana; Grech, Godfrey; Konieczka, Katarzyna; Golubnitschaja, Olga; Erwich, Jan Jaap; Costigliola, Vincenzo; Yeghiazaryan, Kristina; Gembruch, Ulrich; Goncharenko, Vadym M; Beniuk, Vasyl O; Kalenska, Olga V; Bubnov, Rostyslav V; Goncharenko, Vadym M; Beniuk, Vasyl O; Bubnov, Rostyslav V; Melnychuk, Olga; Gorbacheva, Irina A; Orekhova, Lyudmila Y; Tachalov, Vadim V; Grechanyk, Olena I; Abdullaiev, Rizvan Ya; Bubnov, Rostyslav V; Hagan, Suzanne; Martin, Eilidh; Pearce, Ian; Oliver, Katherine; Haytac, Cenk; Salimov, Fariz; Yoksul, Servin; Kunin, Anatoly A; Moiseeva, Natalia S; Herrera-Imbroda, Bernardo; del Río-González, Sergio; Lara, Maria Fernanda; Angulo, Antonia; Machuca Santa-Cruz, Francisco Javier; Herrera-Imbroda, Bernardo; del Río-González, Sergio; Lara, Maria Fernanda; Ionescu, John; Isamulaeva, Alfiya Z; Kunin, Anatoly A; Magomedov, Shamil Sh; Isamulaeva, Aida I; Josifova, Tatjana; Kapalla, Marko; Kubáň, Juraj; Golubnitschaja, Olga; Costigliola, Vincenzo; Costigliola, Vincenzo; Kapalla, Marko; Kubáň, Juraj; Golubnitschaja, Olga; Kent, Anthony; Fisher, Tom; Dias, Tilak; Kinkorová, Judita; Topolčan, Ondřej; Kohl, Matthias; Kunin, Anatoly A; Moiseeva, Natalia S; Kurchenko, Andrii I; Beniuk, Vasyl A; Goncharenko, Vadym M; Bubnov, Rostyslav V; Boyko, Nadiya V; Strokan, Andriy M; Kzhyshkowska, Julia; Gudima, Alexandru; Stankevich, Ksenia S; Filimonov, Victor D; Klüter, Harald; Mamontova, Evgeniya M; Tverdokhlebov, Sergei I; Lushchyk, Ulyana B; Novytskyy, Viktor V; Babii, Igor P; Lushchyk, Nadiya G; Riabets, Lyudmyla S; Legka, Ivanna I; Marcus-Kalish, Mira; Mitelpunkt, Alexis; Galili, Tal; Shachar, Neta; Benjamini, Yoav; Migasiewicz, Agnieszka; Pelleter, Markus; Bauer, Joanna; Dereń, Ewelina; Podbielska, Halina; Moiseeva, Natalia S; Kunin, Anatoly A; Kunin, Dmitry A; Moiseeva, Natalia S; Ippolitov, Yury A; Kunin, Dmitry A; Morozov, Alexei N; Chirkova, Natalia V; Aliev, Nakhid T; Mozaffari, Mahmood S; Liu, Jun Yao; Baban, Babak; Mozaffari, Mahmood S; Liu, Jun Yao; Abdelsayed, Rafik; Shi, Xing-Ming; Baban, Babak; Novák, Jaroslav; Štork, Milan; Zeman, Václav; Oosterhuis, Wytze P; Theodorsson, Elvar; Orekhova, Lyudmila Y; Kudryavtseva, Tatyana V; Isaeva, Elena R; Tachalov, Vadim V; Loboda, Ekaterina S; Pazzagli, Mario; Malentacchi, Francesca; Mancini, Irene; Brandslund, Ivan; Vermeersch, Pieter; Schwab, Matthias; Marc, Janja; van Schaik, Ron H N; Siest, Gerard; Theodorsson, Elvar; Di Resta, Chiara; Pleva, Matus; Juhar, Jozef; Pleva, Matus; Juhar, Jozef; Polívka jr., Jiří; Janků, Filip; Pešta, Martin; Doležal, Jan; Králíčková, Milena; Polívka, Jiří; Polívka, Jiří; Lukešová, Alena; Müllerová, Nina; Ševčík, Petr; Rohan, Vladimír; Richter, Kneginja; Miloseva, Lence; Niklewski, Günter; Richter, Kneginja; Acker, Jens; Niklewski, Guenter; Safonicheva, Olga; Costigliola, Vincenzo; Safonicheva, Olga; Sautin, Maxim; Sinelnikova, Janna; Suchkov, Sergey; Secer, Songül; von Bandemer, Stephan; Shapira, Niva; Shcherbakov, Aleksandr; Kunin, Anatoly A; Moiseeva, Natalia S; Shumilovich, Bogdan R; Lipkind, Zhanna; Vorobieva, Yulia; Kunin, Dmitry A; Sudareva, Anastasiia V; Smokovski, Ivica; Milenkovic, Tatjana; Solís-Herrera, Arturo; Arias-Esparza, María del Carmen; Suchkov, Sergey; Sridhar, Krishna Chander; Golubnitschaja, Olga; Studneva, Maria; Song, Sihong; Creeden, James; Мandrik, Мark; Suchkov, Sergey; Theodorsson, Elvar; Tofail, Syed A M; Topolčan, Ondřej; Kinkorová, Judita; Fiala, Ondřej; Karlíková, Marie; Svobodová, Šárka; Kučera, Radek; Fuchsová, Radka; Třeška, Vladislav; Šimánek, Václav; Pecen, Ladislav; Šoupal, Jan; Svačina, Štěpán; Tretyak, Evgeniya; Studneva, Maria; Suchkov, Sergey; Trovato, Francesca M; Martines, Giuseppe Fabio; Brischetto, Daniela; Catalano, Daniela; Musumeci, Giuseppe; Trovato, Guglielmo M; Tsangaris, George Th; Anagnostopoulos, Athanasios K; Tsangaris, George Th; Anagnostopoulos, Athanasios K; Verdú, José; Gutiérrez, German; Rovira, Jordi; Martinez, Marta; Fleischhacker, Lutz; Green, Donna; Garson, Arthur; Tamburini, Elena; Cuomo, Stefano; Martinez-Leon, Juan; Abrisqueta, Teresa; Brunner-La Rocca, Hans-Peter; Jaarsma, Tiny; Arredondo, Teresa; Vera, Cecilia; Fico, Giuseppe; Golubnitschaja, Olga; Arribas, Fernando; Onderco, Martina; Vara, Isabel; Verdú, José; Sambo, Francesco; Di Camillo, Barbara; Cobelli, Claudio; Facchinetti, Andrea; Fico, Giuseppe; Bellazzi, Riccardo; Sacchi, Lucia; Dagliati, Arianna; Segnani, Daniele; Tibollo, Valentina; Ottaviano, Manuel; Gabriel, Rafael; Groop, Leif; Postma, Jacqueline; Martinez, Antonio; Hakaste, Liisa; Tuomi, Tiinamaija; Zarkogianni, Konstantia; Volchek, Igor; Pototskaya, Nina; Petrov, Andrey; Volchek, Igor; Pototskaya, Nadezhda; Petrov, Andrey; Voog-Oras, Ülle; Jagur, Oksana; Leibur, Edvitar; Niibo, Priit; Jagomägi, Triin; Nguyen, Minh Son; Pruunsild, Chris; Piikov, Dagmar; Saag, Mare; Wang, Wei; Wang, Wei; Weinhäusel, Andreas; Pulverer, Walter; Wielscher, Matthias; Hofner, Manuela; Noehammer, Christa; Soldo, Regina; Hettegger, Peter; Gyurjan, Istvan; Kulovics, Ronald; Schönthaler, Silvia; Beikircher, Gabriel; Kriegner, Albert; Pabinger, Stephan; Vierlinger, Klemens; Yüzbaşıoğlu, Ayşe; Özgüç, Meral