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

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies-30 Years' Experience From a Third Level Center

谱系图谱:大型染色质病队列的临床和遗传特征分析——来自三级中心的30年经验

Marchetti, Giulia Bruna; Rosina, Erica; Meossi, Camilla; Mura, Michela; Pezzani, Lidia; Selicorni, Angelo; Bedeschi, Maria Francesca; Tenconi, Romano; Agostoni, Carlo; Finelli, Palma; De Matteis, Sara; Di Fede, Elisabetta; Massa, Valentina; Pezzoli, Laura; Gervasini, Cristina; Iascone, Maria; Milani, Donatella

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder

核糖体蛋白RPS6KC1的双等位基因变异会导致一种复杂的神经发育障碍

Planas-Serra, Laura; Rodríguez-Ruiz, Mar; Anderson, Eric Nathaniel; Rodríguez-Palmero, Agustí; Vélez-Santamaria, Valentina; Schlüter, Agatha; Verdura, Edgard; Gereñu, Gorka; Jiménez-Zúñiga, Andrés; Iñañez, Alejandro; Casas, Josefina; Bech, Joan Josep; De La Torre, Carolina; Martínez, Juan José; Ruiz, Montserrat; Fourcade, Stéphane; Iascone, Maria; Tenconi, Romano; Meier, Kolja; Diegmann, Susann; Lee, Reagan H C; Beland, Bakht; Mir, Asif; Darvish, Hossein; Chung, Wendy; Karimiani, Ehsan Ghayoor; Leal, Suzanne M; Schrauwen, Isabelle; Öhman, Susanna; Järvelä, Irma; Granvik, Johanna; Reinson, Karit; Kurvinen, Elvira; Õunap, Katrin; Schwan, Annemarie; Platzer, Konrad; Kalayci, Tuğba; Sharifi, Shahrashoub; Korenke, G Christoph; Houlden, Henry; Maroofian, Reza; López de Munaín, Adolfo; Casasnovas, Carlos; Pandey, Udai Bhan; Pujol, Aurora

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

Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

更正:扩展EEF1A2变异个体的神经发育表型及基因型-表型研究

Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; Piard, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Groeschel, Samuel; Ramond, Francis; Fluss, Joël; Fagerberg, Christina; Brasch Andersen, Charlotte; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gérard, Bénédicte; Fradin, Mélanie; Vitobello, Antonio; Tenconi, Romano; Denommé-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Ostendorf, Adam; Zweier, Christiane; Smol, Thomas; Willems, Marjolaine; Faivre, Laurence; Scala, Marcello; Striano, Pasquale; Bagnasco, Irene; Koboldt, Daniel; Iascone, Maria; Suerink, Manon; Kruer, Michael C; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M; Ruaud, Lyse

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

EEF1A2变异个体神经发育表型扩展及基因型-表型研究

Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; Piard, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Groeschel, Samuel; Ramond, Francis; Fluss, Joël; Fagerberg, Christina; Brasch Andersen, Charlotte; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gérard, Bénédicte; Fradin, Mélanie; Vitobello, Antonio; Tenconi, Romano; Denommé-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Ostendorf, Adam; Zweier, Christiane; Smol, Thomas; Willems, Marjolaine; Faivre, Laurence; Scala, Marcello; Striano, Pasquale; Bagnasco, Irene; Koboldt, Daniel; Iascone, Maria; Suerink, Manon; Kruer, Michael C; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M; Ruaud, Lyse

Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number Variations

外表可能具有欺骗性:外显子测序在揭穿15q11.2拷贝数变异中的诊断能力

Meossi, Camilla; Carrer, Alessia; Ciaccio, Claudia; Pezzoli, Laura; Pezzani, Lidia; Silipigni, Rosa Maria; Sciacca, Francesca L; Tenconi, Romano; Esposito, Silvia; De Laurentiis, Arianna; Pantaleoni, Chiara; Marchisio, Paola; Natacci, Federica; D'Arrigo, Stefano; Iascone, Maria; Milani, Donatella

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

KDM2B相关神经发育障碍及其相关DNA甲基化特征的阐明

van Jaarsveld, Richard H; Reilly, Jack; Cornips, Marie-Claire; Hadders, Michael A; Agolini, Emanuele; Ahimaz, Priyanka; Anyane-Yeboa, Kwame; Bellanger, Severine Audebert; van Binsbergen, Ellen; van den Boogaard, Marie-Jose; Brischoux-Boucher, Elise; Caylor, Raymond C; Ciolfi, Andrea; van Essen, Ton A J; Fontana, Paolo; Hopman, Saskia; Iascone, Maria; Javier, Margaret M; Kamsteeg, Erik-Jan; Kerkhof, Jennifer; Kido, Jun; Kim, Hyung-Goo; Kleefstra, Tjitske; Lonardo, Fortunato; Lai, Abbe; Lev, Dorit; Levy, Michael A; Lewis, M E Suzanne; Lichty, Angie; Mannens, Marcel M A M; Matsumoto, Naomichi; Maya, Idit; McConkey, Haley; Megarbane, Andre; Michaud, Vincent; Miele, Evelina; Niceta, Marcello; Novelli, Antonio; Onesimo, Roberta; Pfundt, Rolph; Popp, Bernt; Prijoles, Eloise; Relator, Raissa; Redon, Sylvia; Rots, Dmitrijs; Rouault, Karen; Saida, Ken; Schieving, Jolanda; Tartaglia, Marco; Tenconi, Romano; Uguen, Kevin; Verbeek, Nienke; Walsh, Christopher A; Yosovich, Keren; Yuskaitis, Christopher J; Zampino, Giuseppe; Sadikovic, Bekim; Alders, Mariëlle; Oegema, Renske

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

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

SPEN单倍体不足会导致一种神经发育障碍,该障碍与近端1p36缺失综合征重叠,并在女性中伴有X染色体表观遗传特征。

Radio, Francesca Clementina; Pang, Kaifang; Ciolfi, Andrea; Levy, Michael A; Hernández-García, Andrés; Pedace, Lucia; Pantaleoni, Francesca; Liu, Zhandong; de Boer, Elke; Jackson, Adam; Bruselles, Alessandro; McConkey, Haley; Stellacci, Emilia; Lo Cicero, Stefania; Motta, Marialetizia; Carrozzo, Rosalba; Dentici, Maria Lisa; McWalter, Kirsty; Desai, Megha; Monaghan, Kristin G; Telegrafi, Aida; Philippe, Christophe; Vitobello, Antonio; Au, Margaret; Grand, Katheryn; Sanchez-Lara, Pedro A; Baez, Joanne; Lindstrom, Kristin; Kulch, Peggy; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Roadhouse, Chelsea; MacKenzie, Jennifer J; Monteleone, Berrin; Saunders, Carol J; Jean Cuevas, July K; Cross, Laura; Zhou, Dihong; Hartley, Taila; Sawyer, Sarah L; Monteiro, Fabíola Paoli; Secches, Tania Vertemati; Kok, Fernando; Schultz-Rogers, Laura E; Macke, Erica L; Morava, Eva; Klee, Eric W; Kemppainen, Jennifer; Iascone, Maria; Selicorni, Angelo; Tenconi, Romano; Amor, David J; Pais, Lynn; Gallacher, Lyndon; Turnpenny, Peter D; Stals, Karen; Ellard, Sian; Cabet, Sara; Lesca, Gaetan; Pascal, Joset; Steindl, Katharina; Ravid, Sarit; Weiss, Karin; Castle, Alison M R; Carter, Melissa T; Kalsner, Louisa; de Vries, Bert B A; van Bon, Bregje W; Wevers, Marijke R; Pfundt, Rolph; Stegmann, Alexander P A; Kerr, Bronwyn; Kingston, Helen M; Chandler, Kate E; Sheehan, Willow; Elias, Abdallah F; Shinde, Deepali N; Towne, Meghan C; Robin, Nathaniel H; Goodloe, Dana; Vanderver, Adeline; Sherbini, Omar; Bluske, Krista; Hagelstrom, R Tanner; Zanus, Caterina; Faletra, Flavio; Musante, Luciana; Kurtz-Nelson, Evangeline C; Earl, Rachel K; Anderlid, Britt-Marie; Morin, Gilles; van Slegtenhorst, Marjon; Diderich, Karin E M; Brooks, Alice S; Gribnau, Joost; Boers, Ruben G; Finestra, Teresa Robert; Carter, Lauren B; Rauch, Anita; Gasparini, Paolo; Boycott, Kym M; Barakat, Tahsin Stefan; Graham, John M Jr; Faivre, Laurence; Banka, Siddharth; Wang, Tianyun; Eichler, Evan E; Priolo, Manuela; Dallapiccola, Bruno; Vissers, Lisenka E L M; Sadikovic, Bekim; Scott, Daryl A; Holder, Jimmy Lloyd Jr; Tartaglia, Marco

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

EZH2 的 DNA 甲基化特征可对三个 PRC2 复合体基因中的序列变异进行功能分类

Choufani, Sanaa; Gibson, William T; Turinsky, Andrei L; Chung, Brian H Y; Wang, Tianren; Garg, Kopal; Vitriolo, Alessandro; Cohen, Ana S A; Cyrus, Sharri; Goodman, Sarah; Chater-Diehl, Eric; Brzezinski, Jack; Brudno, Michael; Ming, Luk Ho; White, Susan M; Lynch, Sally Ann; Clericuzio, Carol; Temple, I Karen; Flinter, Frances; McConnell, Vivienne; Cushing, Tom; Bird, Lynne M; Splitt, Miranda; Kerr, Bronwyn; Scherer, Stephen W; Machado, Jerry; Imagawa, Eri; Okamoto, Nobuhiko; Matsumoto, Naomichi; Testa, Guiseppe; Iascone, Maria; Tenconi, Romano; Caluseriu, Oana; Mendoza-Londono, Roberto; Chitayat, David; Cytrynbaum, Cheryl; Tatton-Brown, Katrina; Weksberg, Rosanna