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

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

RNU2-2基因的双等位基因变异会导致最常见的已知隐性遗传性神经发育障碍。

Greene, Daniel; Mendez, Rodrigo; Lees, Jon; Barbosa, Mafalda; Bruselles, Alessandro; Chiriatti, Luigi; Ferraro, Federico; Mancini, Cecilia; Schot, Rachel; Sleutels, Frank; Bertini, Enrico; Bonner, Devon E; Bouman, Arjan; Brooks, Alice S; Cassini, Thomas A; Ezell, Kimberly M; Gomez-Ospina, Natalia; Kleefstra, Tjitske; O'Donoghue, Michael; Rives, Lynette; Shashi, Vandana; Spillmann, Rebecca C; Wafik, Mohamed; Freson, Kathleen; Barakat, Tahsin Stefan; Tartaglia, Marco; Bernstein, Jonathan A; Mumford, Andrew D; Wheeler, Matthew T; Turro, Ernest

A Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization

非综合征型视网膜色素变性中一种新的杂合ARL3变异:临床和功能特征

Stellacci, Emilia; Ziccardi, Lucia; Bruselles, Alessandro; Dell'Aquila, Carmen; Mignini, Luca; Niceta, Marcello; Chiriatti, Luigi; Carvetta, Mattia; Zara, Erika; Leone, Alessandro; Cecchetti, Serena; Coppola, Simona; Parisi, Vincenzo; Tartaglia, Marco; Cordeddu, Viviana

Variable Ophthalmologic Phenotypes Associated with Biallelic Loss-of-Function Variants in POMGNT1

POMGNT1基因双等位基因功能缺失变异与多种眼科表型相关

Ziccardi, Lucia; Barbano, Lucilla; D'Andrea, Mattia; Bruselles, Alessandro; Dell'Aquila, Carmen; Niceta, Marcello; Mancini, Cecilia; Leone, Alessandro; Carvetta, Mattia; Albanese, Maria; Stellacci, Emilia; Tartaglia, Marco; Cordeddu, Viviana

Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis Pigmentosa

双等位基因BAIAP3变异与孤立性视网膜色素变性相关

Cordeddu, Viviana; Flex, Elisabetta; Mignini, Luca; Bruselles, Alessandro; Cecchetti, Serena; Messina, Elena; Arasi, Maria Beatrice; Carvetta, Mattia; Straface, Emilio; Leone, Alessandro; Guadagnolo, Daniele; D'Asdia, Maria Cecilia; Nebbioso, Marcella; Bellacchio, Emanuele; Dell'Aquila, Carmen; Ziccardi, Lucia; Pizzuti, Antonio; De Luca, Alessandro; Tartaglia, Marco

Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants

拓展ReNU综合征的突变谱:对5'茎环变异的深入了解

Bruselles, Alessandro; Mancini, Cecilia; Chiriatti, Luigi; Carvetta, Mattia; Baroni, Maria Chiara; Cappelletti, Camilla; Caraffi, Stefano Giuseppe; Celario, Massimiliano; Ciolfi, Andrea; Cordeddu, Viviana; De Falco, Alessandro; Ferilli, Marco; Garavelli, Livia; Leoni, Chiara; Meossi, Camilla; Niceta, Marcello; Onesimo, Roberta; Peluso, Francesca; Politano, Davide; Priolo, Manuela; Radio, Francesca Clementina; Santorelli, Filippo; Signorini, Sabrina; Sirchia, Fabio; Valente, Enza Maria; Zampino, Giuseppe; Tartaglia, Marco

The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies

HNRNPC中的Arg99Gln替换与一种独特的临床表型相关,其特征为面部畸形以及眼部和耳蜗异常。

Chiriatti, Luigi; Priolo, Manuela; Onesimo, Roberta; Carvetta, Mattia; Leoni, Chiara; Bruselles, Alessandro; Radio, Francesca Clementina; Cappelletti, Camilla; Ferilli, Marco; Ricci, Daniela; Niceta, Marcello; Cordeddu, Viviana; Ciolfi, Andrea; Mancini, Cecilia; Zampino, Giuseppe; Tartaglia, Marco

The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles

TUBB2B 基因中的 p.Ile202Thr 替换可能与先天性眼外肌纤维化的综合征表现相关。

Mancini, Cecilia; Chiriatti, Luigi; Bruselles, Alessandro; D'ambrosio, Paola; Ciolfi, Andrea; Ferilli, Marco; Cappelletti, Camilla; Carvetta, Mattia; Radio, Francesca Clementina; Cordeddu, Viviana; Niceta, Marcello; Parrino, Marta; Capolino, Rossella; Mammì, Corrado; Senese, Rossana; Muto, Mario; Priolo, Manuela; Tartaglia, Marco

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations

EP300基因第20外显子跳跃:一种与鲁宾斯坦-泰比综合征相关的新型变异,具有非典型和严重的临床表现

Pavinato, Lisa; Carestiato, Silvia; Trajkova, Slavica; Sorasio, Lorena; Mantovani, Giovanna; De Sanctis, Luisa; Kerkhof, Jennifer; McConkey, Haley; Rzasa, Jessica; Todd, Emily; Balzo, Maria; Cardaropoli, Simona; Bruselles, Alessandro; De Rubeis, Silvia; Buxbaum, Joseph D; Tartaglia, Marco; Sadikovic, Bekim; Ferrero, Giovanni Battista; Brusco, Alfredo

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

RNU2-2基因的双等位基因变异会导致最常见的已知隐性遗传性神经发育障碍。

Greene, Daniel; Mendez, Rodrigo; Lees, Jon; Barbosa, Mafalda; Bruselles, Alessandro; Chiriatti, Luigi; Mancini, Cecilia; Bertini, Enrico Silvio; Bonner, Devon E; Cassini, Thomas A; Ezell, Kimberly M; Gomez-Ospina, Natalia; Rives, Lynette; Shashi, Vandana; Spillmann, Rebecca C; Wafik, Mohamed; Tartaglia, Marco; Bernstein, Jonathan A; Mumford, Andrew D; Wheeler, Matthew T; Turro, Ernest

Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data

二代和三代测序数据中种系变异和DNA甲基化分析的最佳实践

Bonfiglio, Ferdinando; Legati, Andrea; Lasorsa, Vito Alessandro; Palombo, Flavia; De Riso, Giulia; Isidori, Federica; Russo, Silvia; Furini, Simone; Merla, Giuseppe; Coppedè, Fabio; Tartaglia, Marco; Bruselles, Alessandro; Pippucci, Tommaso; Ciolfi, Andrea; Pinelli, Michele; Capasso, Mario