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

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder

临床、体外和体内证据表明,WAPL 是一种新的黏连蛋白病基因,也是 10q22.3q23.2 基因组疾病的表型驱动因素。

Boone, Philip M; Erdin, Serkan; Mohamed, Abucar; Haghshenas, Sadegheh; Faour, Kamli N W; Kao, Emeline; Fu, Jack; Auwerx, Chiara; Harripaul, Ricardo; Jana, Bimal; Springer, Danielle; Hallstrom, Grey; de Esch, Celine E F; Denhoff, Erica; Holmes, Lauren; Mohajeri, Kiana; Lemanski, John; Kerkhof, Jennifer; McConkey, Haley; Rzasa, Jessica; McCune, Madison J; Levy, Michael A; Grafstein, Julia; Larson, Matthew; Wright, Zsabre; Beauchamp, Roberta L; Lucente, Diane; Jamra, Rami Abou; Agrawal, Neena; Agrawal, Pankaj; Andersen, Erica F; Argilli, Emanuela; Araiza, Renee; Ballal, Sonia; Baxter, Megan F; Bergant, Gaber; Bertsche, Astrid; Bhavsar, Riya; Bortola, Debora R; Bothe, Viktoria; Brasch-Andersen, Charlotte; Braun, Dominique; Bruel, Ange-Line; Buchanan, Catherine; Burt, Nicholas D; Carvalho, Laura M L; Chiriatti, Luigi; Cogne, Benjamin; Collins, Ryan; Crunk, Amy; Currall, Benjamin; Delahaye-Duriez, Andree; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Devriendt, Koenraad; Domingo, Aloysius; Duncan, Laura; Faivre, Laurence; Famularo, Laura; Fulton, Anne; Genetti, Casie; Harel, Tamar; Havlovicova, Marketa; Higgs, Jenny; Houlier, Marine; Iascone, Maria; Immken, LaDonna; Isidor, Bertrand; Kaiser, Frank J; Karbone, Kaycee; Kenna, Margaret; Khan, Amjad; Kimmig, Lara Kristina; Kleefstra, Tjitske; Kraus, Eva-Maria; Krepischi, Ana C V; Krey, Ilona; Ladda, Roger; Lanoue, Louise; Le Caignec, Cedric; Lewis, Zoe K; Lima, Gloria; Lynch, Sally Ann; Macek, Milan Jr; Maier, Olivier; Maitz, Silvia; Male, Alison; Malikova, Marcela; McKay, Victoria; Moldovan, Oana; Monteil, Danielle; Oliveira, Mariana Moysés; Munasinghe, Jeeva; Nakamori, Sachiko; Neuser, Sonja; Nizon, Mathilde; Nuttle, Xander; O'Keefe, Kathryn; Orec, Laura; Parenti, Ilaria; Peterlin, Borut; Pfundt, Rolph; Pouncey, Jill; Radio, Francesca Clementina; Robert, Leema; Rodan, Lance; Rosenberg-Fogler, Hallel; Rosenfeld, Jill A; Safraou, Hana; Salani, Monica; Schliesske, Sophia; Seaby, Eleanor G; Sell, Susan; Eliot Shearer, A; Sherr, Elliott; Shillington, Amelle; Siebold, Dorothea; Sinnema, Margje; Smith, Laura; Stegmann, Alexander P A; Stevens, Cathy; Stevens, Servi; Surette, Eric; Tartaglia, Marco; Taylor, Jenny C; Thompson, Michelle L; Tørring, Pernille M; Mau Them, Frederic Tran; Tsoulaki, Olga; Umair, Muhammad; Vanhoutte, Els; Vincent, Marie; Vitobello, Antonio; von Wintzingerode, Lydia; Watt, Amy; Wayhelova, Marketa; Wentzensen, Ingrid M; Wilson, William; Wojcik, Monica H; Yuan, Bo; Zampino, Giuseppe; Srivastava, Siddharth; Westphal, Dominik S; Riedhammer, Korbinian M; Joyce, Eric; Yadav, Rachita; Gusella, James; Tai, Derek J C; Sadikovic, Bekim; Pfeifer, Karl E; Talkowski, Michael E

Aberrant recursive splicing in a human disease locus

人类疾病位点中的异常递归剪接

Boone, Philip M; Harripaul, Ricardo; Yadav, Rachita; Grzybowski, Michael; Hanafy, Mahmoud K; Lee, Amanda C; Choi, Esther Y; Collins, Ryan L; Polesskaya, Oksana; Makhortova, Nina; Larson, Matthew O; Kayir, Hakan; Wang, Yizhi; Avila, Rodolfo A; Frie, Jude A; Eed, Amr; Albeely, Abdalla M; Venmuri, Sunitha; Ayoub, Samantha M; Lemanski, John M; Ben-Isvy, Daniel; Zhao, Xuefang; Sanchis-Juan, Alba; Handley, Maris; Erdin, Serkan; de Esch, Celine; Mohajeri, Kiana; Chen, Clementine; Tovar, Paulina Gonzalez; Salani, Monica; Oliveira, Mariana Moyses; Tai, Derek J C; Currall, Benjamin; McGraw, Christopher; Slaughenhaupt, Susan; Doan, Ryan; Gao, Dadi; Gusella, James F; Sanchez-Roige, Sandra; Young, Jared; Khokar, Jibran; Geurts, Aron M; Palmer, Abraham A; Talkowski, Michael E

Author Correction: Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system

作者更正:对家族性自主神经功能障碍人源化小鼠模型的转录组分析揭示了周围神经系统中组织特异性基因表达紊乱

Harripaul, Ricardo; Morini, Elisabetta; Salani, Monica; Logan, Emily; Kirchner, Emily; Bolduc, Jessica; Chekuri, Anil; Currall, Benjamin; Yadav, Rachita; Erdin, Serkan; Talkowski, Michael E; Gao, Dadi; Slaugenhaupt, Susan

Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system

在家族性自主神经功能障碍的人源化小鼠模型中进行的转录组分析揭示了周围神经系统中组织特异性的基因表达紊乱

Harripaul, Ricardo; Morini, Elisabetta; Salani, Monica; Logan, Emily; Kirchner, Emily; Bolduc, Jessica; Chekuri, Anil; Currall, Benjamin; Yadav, Rachita; Erdin, Serkan; Talkowski, Michael E; Gao, Dadi; Slaugenhaupt, Susan

Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder

在 36 个患有自闭症谱系障碍的巴基斯坦家庭和三人组中发现双等位基因变异

Hamid Khan, Ricardo Harripaul, Anna Mikhailov, Sumayah Herzi, Sonya Bowers, Muhammad Ayub, Muhammad Imran Shabbir, John B Vincent

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations

整合基因组学在儿童癌症中的临床应用不仅限于可靶向突变。

Villani, Anita; Davidson, Scott; Kanwar, Nisha; Lo, Winnie W; Li, Yisu; Cohen-Gogo, Sarah; Fuligni, Fabio; Edward, Lisa-Monique; Light, Nicholas; Layeghifard, Mehdi; Harripaul, Ricardo; Waldman, Larissa; Gallinger, Bailey; Comitani, Federico; Brunga, Ledia; Hayes, Reid; Anderson, Nathaniel D; Ramani, Arun K; Yuki, Kyoko E; Blay, Sasha; Johnstone, Brittney; Inglese, Cara; Hammad, Rawan; Goudie, Catherine; Shuen, Andrew; Wasserman, Jonathan D; Venier, Rosemarie E; Eliou, Marianne; Lorenti, Miranda; Ryan, Carol Ann; Braga, Michael; Gloven-Brown, Meagan; Han, Jianan; Montero, Maria; Spatare, Famida; Whitlock, James A; Scherer, Stephen W; Chun, Kathy; Somerville, Martin J; Hawkins, Cynthia; Abdelhaleem, Mohamed; Ramaswamy, Vijay; Somers, Gino R; Kyriakopoulou, Lianna; Hitzler, Johann; Shago, Mary; Morgenstern, Daniel A; Tabori, Uri; Meyn, Stephen; Irwin, Meredith S; Malkin, David; Shlien, Adam

Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan.

巴基斯坦自闭症谱系障碍三人组中钠通道基因 SCN10A 的双等位基因功能丧失突变。

Rabia Ansa, Harripaul Ricardo, Mikhailov Anna, Mahmood Saqib, Maqbool Shazia, Vincent John B, Ayub Muhammad

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

PIDD1 死亡结构域中的双等位基因突变会损害 caspase-2 活化并与智力障碍有关

Taimoor I Sheikh, Nasim Vasli, Stephen Pastore, Kimia Kharizi, Ricardo Harripaul, Zohreh Fattahi, Shruti Pande, Farooq Naeem, Abrar Hussain, Asif Mir, Omar Islam, Katta Mohan Girisha, Muhammad Irfan, Muhammad Ayub, Christoph Schwarzer, Hossein Najmabadi, Anju Shukla, Valentina C Sladky, Vincent Zora

Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14

巴基斯坦一家智力残疾家庭的双等位基因遗传暗示了新的候选基因 RDH14

Stephen F Pastore #, Tahir Muhammad #, Ricardo Harripaul, Rebecca Lau, Muhammad Tariq Masood Khan, Muhammad Ismail Khan, Omar Islam, Changsoo Kang, Muhammad Ayub, Musharraf Jelani, John B Vincent

Exome sequencing identifies novel and known mutations in families with intellectual disability

外显子组测序可识别智力障碍家族中的新突变和已知突变

Rasheed, Memoona; Khan, Valeed; Harripaul, Ricardo; Siddiqui, Maimoona; Malik, Madiha Amin; Ullah, Zahid; Zahid, Muhammad; Vincent, John B; Ansar, Muhammad