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

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo

Family History and Solar Insolation in Bipolar I Disorder

双相情感障碍 I 型患者的家族史和日照情况

Bauer, M; Glenn, T; Achtyes, E D; Alda, M; Agaoglu, E; Altınbaş, K; Andreassen, O A; Angelopoulos, E; Ardau, R; Aydin, M; Ayhan, Y; Baethge, C; Bauer, R; Baune, B T; Balaban, C; Becerra-Palars, C; Behere, A P; Belete, H; Belete, T; Belizario, G Okawa; Bellivier, F; Belmaker, R H; Benedetti, F; Berk, M; Bersudsky, Y; Bicakci, Ş; Birabwa-Oketcho, H; Bjella, T D; Brady, C; Cabrera, J; Cappucciati, M; Castro, A M Paredes; Chen, W; Cheung, E Y W; Chiesa, S; Chanopoulou, M; Crowe, M; Cuomo, A; Dallaspezia, S; Desai, P; Dodd, S; Etain, B; Fagiolini, A; Fellendorf, F T; Ferensztajn-Rochowiak, E; Fiedorowicz, J G; Fountoulakis, K N; Frye, M A; Geoffroy, P A; Gitlin, M J; Gonzalez-Pinto, A; Gottlieb, J F; Grof, P; Haarman, B C M; Harima, H; Hasse-Sousa, M; Henry, C; Hoffding, L; Houenou, J; Imbesi, M; Isometsä, E T; Ivkovic, M; Janno, S; Johnsen, S; Kapczinski, F; Karakatsoulis, G N; Kardell, M; Kessing, L V; Kim, S J; König, B; Kot, T L; Koval, M; Kunz, M; Lafer, B; Landén, M; Larsen, E R; Licht, R W; Ludwig, V M; Lopez-Jaramillo, C; MacKenzie, A; Madsen, H Østergaard; Madsen, S Alberte Kongstad A; Mahadevan, J; Mahardika, A; Mahfoudh, K; Manchia, M; Marsh, W; Martinez-Cengotitabengoa, M; Martini, J; Martiny, K; Mashima, Y; McLoughlin, D M; Meesters, A N R; Meesters, Y; Melle, I; Meza-Urzúa, F; Michaelis, E; Mikolas, P; Mok, Y Ming; Monteith, S; Moorthy, M; Morken, G; Mosca, E; Mozzhegorov, A A; Munoz, R; Mythri, S V; Nadella, R K; Nakanotani, T; Nielsen, R Ernst; O'Donovan, C; Omrani, A; Osher, Y; Ouali, U; Pantovic-Stefanovic, M; Pariwatcharakul, P; Petite, J; Pfennig, A; Pilhatsch, M; Ruiz, Y Pica; Pinna, M; Pompili, M; Porter, R; Quiroz, D; Rabelo-da-Ponte, F Diego; Ramesar, R; Rasgon, N; Ratta-Apha, W; Redahan, M; Reddy, M S; Reif, A; Reininghaus, E Z; Richards, J Gringer; Ritter, P; Rybakowski, J K; Sathyaputri, L; Scippa, A M; Simhandl, C; Smith, D; Smith, J; Stackhouse, P W Jr; Stein, D J; Stilwell, K; Strejilevich, S; Su, K-P; Subramaniam, M; Sulaiman, A Hatim; Suominen, K; Tanra, A J; Tatebayashi, Y; Teh, W Lin; Tondo, L; Torrent, C; Tuinstra, D; Uchida, T; Vaaler, A E; Vieta, E; Viswanath, B; Volf, C; Yang, K-J; Yoldi-Negrete, M; Yalcinkaya, O Kaan; Young, A H; Zgueb, Y; Whybrow, P C

Expanding the RB1 variant landscape of heritable retinoblastoma: unlocking precision oncology potential in Southern Africa

拓展遗传性视网膜母细胞瘤的RB1变异谱:释放南部非洲精准肿瘤学的潜力

van Rensburg, Indiana; Mustak, Hamzah; Benefeld, Gameda; Cunnama, Lucy; Abrahamse-Pillay, Helga; Ramesar, Raj; Roberts, Lisa

Somatic whole exome sequencing of colorectal carcinoma in young patients from sub-Saharan Africa reveals novel insights

对撒哈拉以南非洲年轻结直肠癌患者进行体细胞全外显子组测序,揭示了新的见解

Aldera, Alessandro Pietro; Owusu, Dennis; Biral, Leonardo; Pillay, Komala; Boutall, Adam; Dave, Sandeep; Ramesar, Raj

Distinct dysregulated pathways in sporadic and Lynch syndrome-associated colorectal cancer offer insights for targeted treatment

散发性结直肠癌和林奇综合征相关结直肠癌中不同的异常调控通路为靶向治疗提供了思路。

Krause, May J; Sinkala, Musalula; Ramesar, Raj

High burden of variants of uncertain significance in early-onset colorectal cancer among indigenous African patients: a call for global research equity in cancer genetics

非洲土著患者早发性结直肠癌中意义未明变异的高负担:呼吁全球癌症遗传学研究公平性

Yildiz, Safiye; Chambuso, Ramadhani; Rebello, George; Ramesar, Raj

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

U4 和 U6 snRNA 的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Issa, Peter Charbel; Chadderton, Naomi; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fernández-Caballero, Lidia; Sallum, Juliana M Ferraz; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Goto, Kensuke; Gonzàlez-Duarte, Roser; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Knézy, Krisztina; Klaver, Caroline C W; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leroy, Bart P; Martín-Gutiérrez, María Pilar; Martins, Nelson; Mauring, Laura; Leibu, Rina; Lin, Siying; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahroo, Omar A; Manes, Gaël; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Eddera, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina Giovanna; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stingl, Katarina; Suga, Akiko; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; van Aerschot, Joseph; van den Born, L Ingeborgh; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Rivolta, Carlo; Roosing, Susanne

Genomics and integrative clinical data machine learning scoring model to ascertain likely Lynch syndrome patients

利用基因组学和整合临床数据机器学习评分模型来确定可能的林奇综合征患者

Chambuso, Ramadhani; Musarurwa, Takudzwa Nyasha; Aldera, Alessandro Pietro; Deffur, Armin; Geffen, Hayli; Perkins, Douglas; Ramesar, Raj

The Genetic Architecture of Amygdala Nuclei

杏仁核的遗传结构

Mufford, Mary S; van der Meer, Dennis; Kaufmann, Tobias; Frei, Oleksandr; Ramesar, Raj; Thompson, Paul M; Jahanshad, Neda; Morey, Rajendra A; Andreassen, Ole A; Stein, Dan J; Dalvie, Shareefa

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

通过对105个疾病相关基因进行测序,揭示不完全外显率在黄斑病变中的作用

Hitti-Malin, Rebekkah J; Panneman, Daan M; Corradi, Zelia; Boonen, Erica G M; Astuti, Galuh; Dhaenens, Claire-Marie; Stöhr, Heidi; Weber, Bernhard H F; Sharon, Dror; Banin, Eyal; Karali, Marianthi; Banfi, Sandro; Ben-Yosef, Tamar; Glavač, Damjan; Farrar, G Jane; Ayuso, Carmen; Liskova, Petra; Dudakova, Lubica; Vajter, Marie; Ołdak, Monika; Szaflik, Jacek P; Matynia, Anna; Gorin, Michael B; Kämpjärvi, Kati; Bauwens, Miriam; De Baere, Elfride; Hoyng, Carel B; Li, Catherina H Z; Klaver, Caroline C W; Inglehearn, Chris F; Fujinami, Kaoru; Rivolta, Carlo; Allikmets, Rando; Zernant, Jana; Lee, Winston; Podhajcer, Osvaldo L; Fakin, Ana; Sajovic, Jana; AlTalbishi, Alaa; Valeina, Sandra; Taurina, Gita; Vincent, Andrea L; Roberts, Lisa; Ramesar, Raj; Sartor, Giovanna; Luppi, Elena; Downes, Susan M; van den Born, L Ingeborgh; McLaren, Terri L; De Roach, John N; Lamey, Tina M; Thompson, Jennifer A; Chen, Fred K; Tracewska, Anna M; Kamakari, Smaragda; Sallum, Juliana Maria Ferraz; Bolz, Hanno J; Kayserili, Hülya; Roosing, Susanne; Cremers, Frans P M