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

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype

进一步阐明 AUTS2 HX 重复结构域相关表型

Erdogan, Esin Nur; Cheng, Chi Vicky; Caraffi, Stefano G; Ivanovski, Ivan; Piatelli, Gianluca; Errichiello, Edoardo; Papavasiliou, Antigone S; Vasileiou, Georgia; Reis, André; Prince, Bradley; Hickey, Scott E; Koboldt, Daniel C; Schneider, Michael C; Porrmann, Joseph; Di Donato, Nataliya; Leis, Thomas; Perry, M Scott; Humberson, Jennifer; Rotenberg, Joshua; Bakhtiari, Somayeh; Magee, Helen; Kheradmand, Shaydah; Kruer, Michael C; Swale, Andrew; Weber, Astrid; Landes, Caren; Zuffardi, Orsetta; Garavelli, Livia; van Haeringen, Arie; Ruivenkamp, Claudia A L; Pauly, Melissa; Au, Ping Yee Billie; Dobyns, William B; Aldinger, Kimberly A

Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case

宪法副本编号扩充:罕见还是被低估?重审一桩25年前的悬案

Salvo, Eliana; Tenconi, Romano; Giorda, Roberto; Bertuzzo, Sara; Cesana, Luca; Murru, Roberta; Giglio, Sabrina; Mehrjouy, Mana M; Tommerup, Niels; Zuffardi, Orsetta; Bonaglia, Maria Clara

Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3

出版商更正:Lbx1/Fgf8基因座基因表达的组合效应可解决裂手/裂足畸形3型

Cova, Giulia; Glaser, Juliane; Schöpflin, Robert; Prada-Medina, Cesar Augusto; Ali, Salaheddine; Franke, Martin; Falcone, Rita; Federer, Miriam; Ponzi, Emanuela; Ficarella, Romina; Novara, Francesca; Wittler, Lars; Timmermann, Bernd; Gentile, Mattia; Zuffardi, Orsetta; Spielmann, Malte; Mundlos, Stefan

Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3

Lbx1/Fgf8基因座基因表达的组合效应可解决3型手足分裂畸形

Giulia Cova #, Juliane Glaser #, Robert Schöpflin, Cesar Augusto Prada-Medina, Salaheddine Ali, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage

ESAM紧密连接基因的双等位基因变异会导致一种与胎儿颅内出血相关的神经发育障碍。

Lecca, Mauro; Pehlivan, Davut; Suñer, Damià Heine; Weiss, Karin; Coste, Thibault; Zweier, Markus; Oktay, Yavuz; Danial-Farran, Nada; Rosti, Vittorio; Bonasoni, Maria Paola; Malara, Alessandro; Contrò, Gianluca; Zuntini, Roberta; Pollazzon, Marzia; Pascarella, Rosario; Neri, Alberto; Fusco, Carlo; Marafi, Dana; Mitani, Tadahiro; Posey, Jennifer Ellen; Bayramoglu, Sadik Etka; Gezdirici, Alper; Hernandez-Rodriguez, Jessica; Cladera, Emilia Amengual; Miravet, Elena; Roldan-Busto, Jorge; Ruiz, María Angeles; Bauzá, Cristofol Vives; Ben-Sira, Liat; Sigaudy, Sabine; Begemann, Anaïs; Unger, Sheila; Güngör, Serdal; Hiz, Semra; Sonmezler, Ece; Zehavi, Yoav; Jerdev, Michael; Balduini, Alessandra; Zuffardi, Orsetta; Horvath, Rita; Lochmüller, Hanns; Rauch, Anita; Garavelli, Livia; Tournier-Lasserve, Elisabeth; Spiegel, Ronen; Lupski, James R; Errichiello, Edoardo

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

KBG综合征神经影像学和骨骼特征的深度表型分析:一项包含53例患者的研究及文献综述

Peluso, Francesca; Caraffi, Stefano G; Contrò, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne-Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux-Boucher, Elise; Carter, Melissa T; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; Dyment, David A; Farholt, Stense; Ferreira, Carlos R; Wolfe, Lynne A; Gahl, William A; Gnazzo, Maria; Goel, Himanshu; Grønborg, Sabine Weller; Hammer, Trine; Iughetti, Lorenzo; Kleefstra, Tjitske; Koolen, David A; Lepri, Francesca Romana; Lemire, Gabrielle; Louro, Pedro; McCullagh, Gary; Madeo, Simona F; Milone, Annarita; Milone, Roberta; Nielsen, Jens Erik Klint; Novelli, Antonio; Ockeloen, Charlotte W; Pascarella, Rosario; Pippucci, Tommaso; Ricca, Ivana; Robertson, Stephen P; Sawyer, Sarah; Falkenberg Smeland, Marie; Stegmann, Sander; Stumpel, Constanze T; Goel, Amy; Taylor, Juliet M; Barbuti, Domenico; Soresina, Annarosa; Bedeschi, Maria Francesca; Battini, Roberta; Cavalli, Anna; Fusco, Carlo; Iascone, Maria; Van Maldergem, Lionel; Venkateswaran, Sunita; Zuffardi, Orsetta; Vergano, Samantha; Garavelli, Livia; Bayat, Allan

Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome

RASA1相关毛细血管畸形-动静脉畸形综合征的产前临床发现

Coccia, Emanuele; Valeri, Lara; Zuntini, Roberta; Caraffi, Stefano Giuseppe; Peluso, Francesca; Pagliai, Luca; Vezzani, Antonietta; Pietrangiolillo, Zaira; Leo, Francesco; Melli, Nives; Fiorini, Valentina; Greco, Andrea; Lepri, Francesca Romana; Pisaneschi, Elisa; Marozza, Annabella; Carli, Diana; Mussa, Alessandro; Radio, Francesca Clementina; Conti, Beatrice; Iascone, Maria; Gargano, Giancarlo; Novelli, Antonio; Tartaglia, Marco; Zuffardi, Orsetta; Bedeschi, Maria Francesca; Garavelli, Livia

Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation

病例报告:一名患有表皮痣和横纹肌肉瘤的患者出现合子后HRAS基因连续突变,且携带突变等位基因的父系11号染色体获得,这提示HRAS基因参与了致癌转化的多重打击机制。

Zuntini, Roberta; Cattani, Chiara; Pedace, Lucia; Miele, Evelina; Caraffi, Stefano Giuseppe; Gardini, Stefano; Ficarelli, Elena; Pizzi, Simone; Radio, Francesca Clementina; Barone, Angelica; Piana, Simonetta; Bertolini, Patrizia; Corradi, Domenico; Marinelli, Maria; Longo, Caterina; Motolese, Alberico; Zuffardi, Orsetta; Tartaglia, Marco; Garavelli, Livia

Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants

病例报告:解析与马凡氏综合征相关的染色体间插入:光学基因组图谱如何凸显拷贝数中性变异的致病负担

Bonaglia, Maria Clara; Salvo, Eliana; Sironi, Manuela; Bertuzzo, Sara; Errichiello, Edoardo; Mattina, Teresa; Zuffardi, Orsetta

Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes

Hi-C 与短读长和长读长基因组测序相结合,揭示了生殖系重排基因组的结构。

Schöpflin, Robert; Melo, Uirá Souto; Moeinzadeh, Hossein; Heller, David; Laupert, Verena; Hertzberg, Jakob; Holtgrewe, Manuel; Alavi, Nico; Klever, Marius-Konstantin; Jungnitsch, Julius; Comak, Emel; Türkmen, Seval; Horn, Denise; Duffourd, Yannis; Faivre, Laurence; Callier, Patrick; Sanlaville, Damien; Zuffardi, Orsetta; Tenconi, Romano; Kurtas, Nehir Edibe; Giglio, Sabrina; Prager, Bettina; Latos-Bielenska, Anna; Vogel, Ida; Bugge, Merete; Tommerup, Niels; Spielmann, Malte; Vitobello, Antonio; Kalscheuer, Vera M; Vingron, Martin; Mundlos, Stefan