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

Advancing Nursing Data Integration Through a Nursing Minimum Dataset for the Conceptual and Technical Development of a "Fall Prevention" Data Module: Development Study

通过护理最小数据集推进护理数据集成,以进行“防跌倒”数据模块的概念和技术开发:开发研究

Milkov, Sarah; Schmidt, Antonia; Burmann, Anja; Tschorn, Niklas; Klötgen, Marcel; Deiters, Wolfgang; Potthoff, Christian; Neveling, Kirsten; Weber, Yvonne; Keuchel, Maren; Holle, Daniela

Publisher Correction: Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome

出版商更正:长读长测序技术发现 IQCB1 基因中一个隐藏的 LINE-1/ERV1 插入突变是 Senior-Løken 综合征的致病变异。

de Bruijn, Suzanne E; Ingeborgh, Van den Born L; Derks, Ronny; Haer-Wigman, Lonneke; O'Gorman, Luke; Cremers, Frans P M; van Beek, Ronald; Hoischen, Alexander; Roosing, Susanne; Neveling, Kornelia

Optical genome mapping enables accurate testing of large repeat expansions

光学基因组图谱能够对大片段重复序列扩增进行精确检测

van der Sanden, Bart; Neveling, Kornelia; Shukor, Syukri; Gallagher, Michael D; Lee, Joyce; Burke, Stephanie L; Pennings, Maartje; van Beek, Ronald; Oorsprong, Michiel; Kater-Baats, Ellen; Kamping, Eveline; Tieleman, Alide A; Voermans, Nicol C; Scheffer, Ingrid E; Gecz, Jozef; Corbett, Mark A; Vissers, Lisenka E L M; Pang, Andy Wing Chun; Hastie, Alex; Kamsteeg, Erik-Jan; Hoischen, Alexander

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

利用高保真长读长基因组测序揭示未确诊的罕见病病例

Steyaert, Wouter; Sagath, Lydia; Demidov, German; Yépez, Vicente A; Esteve-Codina, Anna; Gagneur, Julien; Ellwanger, Kornelia; Derks, Ronny; Weiss, Marjan; den Ouden, Amber; van den Heuvel, Simone; Swinkels, Hilde; Zomer, Nick; Steehouwer, Marloes; O'Gorman, Luke; Astuti, Galuh; Neveling, Kornelia; Schüle, Rebecca; Xu, Jishu; Synofzik, Matthis; Beijer, Danique; Hengel, Holger; Schöls, Ludger; Claeys, Kristl G; Baets, Jonathan; Van de Vondel, Liedewei; Ferlini, Alessandra; Selvatici, Rita; Morsy, Heba; Saeed Abd Elmaksoud, Marwa; Straub, Volker; Müller, Juliane; Pini, Veronica; Perry, Luke; Sarkozy, Anna; Zaharieva, Irina; Muntoni, Francesco; Bugiardini, Enrico; Polavarapu, Kiran; Horvath, Rita; Reid, Evan; Lochmüller, Hanns; Spinazzi, Marco; Savarese, Marco; Matalonga, Leslie; Laurie, Steven; Brunner, Han G; Graessner, Holm; Beltran, Sergi; Ossowski, Stephan; Vissers, Lisenka E L M; Gilissen, Christian; Hoischen, Alexander

Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome

长读长测序技术发现 IQCB1 基因中一个隐藏的 LINE-1/ERV1 插入突变是 Senior-Løken 综合征的致病变异。

de Bruijn, Suzanne E; Ingeborgh, Van den Born L; Derks, Ronny; Haer-Wigman, Lonneke; O'Gorman, Luke; Cremers, Frans P M; van Beek, Ronald; Hoischen, Alexander; Roosing, Susanne; Neveling, Kornelia

Repeat length as a key determinant for disease severity and antisense oligonucleotide activity in myotonic dystrophy type 1

重复序列长度是强直性肌营养不良症1型疾病严重程度和反义寡核苷酸活性的关键决定因素

El Boujnouni, Najoua; Ripken, Lise; Willemse, Marieke; van der Sanden, Bart; Neveling, Kornelia; Hoischen, Alexander; Brock, Roland; Wansink, Derick G

Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping

利用全基因组测序和光学基因组图谱对5例ROHHAD-NET患者进行基因评估。

van Engelen, N; van Santen, H M; van Dijk, F; Kleisman, M M; Merks, J H M; Schouten-van Meeteren, A Y N; Kamping, E J; Neveling, K; Hoischen, A; Jongmans, M C J; Kuiper, R P

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

Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects

回复:人类受试者中 OPN1LW-OPN1MW 基因簇基因检测的陷阱

Haer-Wigman, Lonneke; den Ouden, Amber; Derks, Ronny; van Genderen, Maria M; Lugtenberg, Dorien; Verheij, Joke; Vijzelaar, Raymon; Yntema, Helger G; Vissers, Lisenka E L M; Neveling, Kornelia