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

Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach

基因组和转录组测序在先天性免疫缺陷诊断中的应用:一种可行的多组学诊断方法

Rozevska, Marija; Daila Neiburga-Vigante, Katrina; Nartisa, Inga; Lucane, Zane; Ozola, Lota; Bardina, Livija; Jaunalksne, Inta; Gerula, Natalija; Krike, Petra; Taurina, Gita; Nokalna-Spale, Ieva; Micule, Ieva; Vilne, Baiba; Kisand, Kai; Pajusalu, Sander; Gailite, Linda; Rots, Dmitrijs; Kurjane, Natalja

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

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

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

复发性深内含子假外显子诱导变异 COL6A1 c.930+189C>T 导致 COL6 相关营养不良症的持续严重表型:朝着剪接调节疗法的临床试验准备迈进

Foley A Reghan, Bolduc Véronique, Guirguis Fady, Donkervoort Sandra, Hu Ying, Orbach Rotem, McCarty Riley M, Sarathy Apurva, Norato Gina, Cummings Beryl B, Lek Monkol, Sarkozy Anna, Butterfield Russell J, Kirschner Janbernd, Nascimento Andrés, Benito Daniel Natera-de, Quijano-Roy Susana, Stojkovic Tanya, Merlini Luciano, Comi Giacomo, Ryan Monique, McDonald Denise, Munot Pinki, Yoon Grace, Leung Edward, Finanger Erika, Leach Meganne E, Collins James, Tian Cuixia, Mohassel Payam, Neuhaus Sarah B, Saade Dimah, Cocanougher Benjamin T, Chu Mary-Lynn, Scavina Mena, Grosmann Carla, Richardson Randal, Kossak Brian D, Gospe Sidney M Jr, Bhise Vikram, Taurina Gita, Lace Baiba, Troncoso Monica, Shohat Mordechai, Shalata Adel, Chan Sophelia H S, Jokela Manu, Palmio Johanna, Haliloğlu Göknur, Jou Cristina, Gartioux Corine, Solomon-Degefa Herimela, Freiburg Carolin D, Schiavinato Alvise, Zhou Haiyan, Aguti Sara, Nevo Yoram, Nishino Ichizo, Jimenez-Mallebrera Cecilia, Lamandé Shireen R, Allamand Valérie, Gualandi Francesca, Ferlini Alessandra, MacArthur Daniel G, Wilton Steve D, Wagener Raimund, Bertini Enrico, Muntoni Francesco, Bönnemann Carsten G

Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia

拉脱维亚人群神经肌肉疾病分子诊断经验概述

Lace, Baiba; Micule, Ieva; Kenina, Viktorija; Setlere, Signe; Strautmanis, Jurgis; Kazaine, Inese; Taurina, Gita; Murmane, Daiga; Grinfelde, Ieva; Kornejeva, Liene; Krumina, Zita; Sterna, Olga; Radovica-Spalvina, Ilze; Vasiljeva, Inta; Gailite, Linda; Stavusis, Janis; Livcane, Diana; Kidere, Dita; Malniece, Ieva; Inashkina, Inna

Clinical and Genetic Characterisation of Cystic Fibrosis Patients in Latvia: A Twenty-Five-Year Experience

拉脱维亚囊性纤维化患者的临床和遗传特征:25 年经验

Auzenbaha, Madara; Aleksejeva, Elina; Taurina, Gita; Kornejeva, Liene; Kempa, Inga; Svabe, Vija; Gailite, Linda

The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

罕见眼病领域广泛开展基因组检测的必要性:ERN-EYE立场声明

Black, Graeme C; Sergouniotis, Panagiotis; Sodi, Andrea; Leroy, Bart P; Van Cauwenbergh, Caroline; Liskova, Petra; Grønskov, Karen; Klett, Artur; Kohl, Susanne; Taurina, Gita; Sukys, Marius; Haer-Wigman, Lonneke; Nowomiejska, Katarzyna; Marques, João Pedro; Leroux, Dorothée; Cremers, Frans P M; De Baere, Elfride; Dollfus, Hélène

GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease

对两个患有 X 连锁夏科-马里-图斯病的大家族进行 GJB1 基因分析

Kovale, Sabine; Terauda, Ruta; Millere, Elina; Taurina, Gita; Murmane, Daiga; Isakova, Jekaterina; Kenina, Viktorija; Gailite, Linda

A Giant Arteriovenous Malformation and Fistula in a Newborn with Parkes Weber Syndrome. Case Report

帕克斯-韦伯综合征新生儿巨大动静脉畸形及瘘管病例报告

Auzina, Luize; Skuja, Elina; Janis Safranovs, Toms; Ozolins, Valts; Kidikas, Helmuts; Taurina, Gita; Lubaua, Inguna