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

A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy

TBC1D7基因中5'UTR CCG扩增导致眼咽远端肌病

Van de Vondel, Liedewei; Curro, Riccardo; Facchini, Stefano; Xu, Isaac R L; De Winter, Jonathan; Quartesan, Ilaria; Monticelli, Alice; Alonso-Jimenez, Alicia; De Ridder, Willem; Bertini, Alessandro; Alves, Gustavo; Pizzuto, Francesca; Ugolini, Hermione; Pellerin, David; De Pooter, Tim; Merve, Ashirwad; Machado, Pedro; Sagath, Lydia; Neveling, Kornelia; Hoischen, Alexander; Hanna, Michael G; Pitceathly, Robert D S; Houlden, Henry; Tucci, Arianna; Bugiardini, Enrico; Brady, Stefen; Roberts, Mark; Danzi, Matt C; Züchner, Stephan; Baets, Jonathan; Cortese, Andrea

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

Structural variation in nebulin and its implications 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

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