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

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

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions

星状蛋白的结构变异及其对表型和遗传的影响:由大片段缺失引起的显性远端表型的建立

Sagath, Lydia; Kiiski, Kirsi; Naidu, Kireshnee; Patel, Krutik; Jonson, Per Harald; Laarne, Milla; Djordjevic, Djurdja; Yoon, Grace; LaGroon, Anna; Rogers, Curtis; Galindo, Maureen Kelly; Scherer, Katalin; Kunstmann, Erdmute; Koparir, Erkan; Ho, Desirée; Davis, Mark; Joshi, Purwa; Zygmunt, Alexander; Orbach, Rotem; Donkervoort, Sandra; Bönnemann, Carsten G; Savarese, Marco; Echaniz-Laguna, Andoni; Biancalana, Valérie; Genetti, Casie A; Iannaccone, Susan T; Beggs, Alan H; Wallgren-Pettersson, Carina; Henning, Franclo; Pelin, Katarina; Lehtokari, Vilma-Lotta

Myotilin gene duplication causing late-onset myotilinopathy.

肌动蛋白基因重复导致迟发性肌动蛋白病

Spinazzi Marco, Savarese Marco, Letournel Franck, Sagath Lydia, Manero Florence, Guichet Agnès, Hoischen Alexander, Metay Corinne, Gouju Julien, Udd Bjarne

Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report

RNA 测序揭示患有罕见形式的杆状体肌病的患者的 TPM3 中存在新的复合杂合剪接位点变异:病例报告

Katarina Pelin, Lydia Sagath, Johanna Lehtonen, Kirsi Kiiski, Olli Tynninen, Anders Paetau, Mridul Johari, Marco Savarese, Carina Wallgren-Pettersson, Vilma-Lotta Lehtokari

Array Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variation of the TTN Segmental Duplication Region

阵列比较基因组杂交和液滴数字 PCR 揭示 TTN 片段重复区域的复发性拷贝数变异

Lydia Sagath, Vilma-Lotta Lehtokari, Katarina Pelin, Kirsi Kiiski

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders

一种包含187个基因的扩展靶向拷贝数变异检测芯片,用于诊断神经肌肉疾病

Sagath, Lydia; Lehtokari, Vilma-Lotta; Välipakka, Salla; Udd, Bjarne; Wallgren-Pettersson, Carina; Pelin, Katarina; Kiiski, Kirsi

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy

通过对西班牙线粒体肌病患者进行新一代测序筛查,发现了新的突变。

Moreau-Le Lan, Sarah; Aller, Elena; Calabria, Ines; Gonzalez-Tarancon, Lola; Cardona-Gay, Cristina; Martinez-Matilla, Marina; Aparisi, Maria J; Selles, Jorge; Sagath, Lydia; Pitarch, Inmaculada; Muelas, Nuria; Cervera, Jose V; Millan, Jose M; Pedrola, Laia

Copy number variation analysis increases the diagnostic yield in muscle diseases

拷贝数变异分析可提高肌肉疾病的诊断率

Välipakka, Salla; Savarese, Marco; Johari, Mridul; Sagath, Lydia; Arumilli, Meharji; Kiiski, Kirsi; Sáenz, Amets; de Munain, Adolfo Lopez; Cobo, Ana-Maria; Pelin, Katarina; Udd, Bjarne; Hackman, Peter