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

De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome

DDX39B基因的新生突变和遗传突变会导致一种新的神经发育综合征。

Booth, Kevin T A; Jangam, Sharayu V; Chui, Martin M C; Treat, Kayla; Graziani, Lorenzo; Soldano, Alessia; Ruan, Yao; Wan-Hei Hui, Jeffrey; White, Kerry; Christensen, Celanie K; Lynnes, Ty; Yamamoto, Shinya; Kanca, Oguz; Tsang, Mandy H Y; Lynch, Sally A; Mullegama, Sureni V; Baptista, Julia; Iancu, Daniela; Joss, Shelagh K; Wong, Sandra Y Y; Mak, Christopher C Y; Kwong, Anna K Y; Bellen, Hugo J; Conboy, Erin; Sanges, Remo; Leung, Anskar Yu-Hung; Wangler, Michael F; Chung, Brian H Y; Vetrini, Francesco

Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.

BORCS5 中的致病变异会导致一系列神经发育障碍和神经退行性疾病,并伴有溶酶体功能障碍

Mencacci Niccolò E, Minakaki Georgia, Maroofian Reza, De Pace Raffaella, Paimboeuf Adeline, Shannon Patrick, Chitayat David, Magrinelli Francesca, Peng Wesley J, Chatterjee Diptaman, Eldessouky Sara H, Baptista Julia, Marton Tamas, Vogt Julie, Ortigoza-Escobar Juan Dario, Martorell Loreto, Gómez-Chiari Marta, Wentzensen Ingrid M, Kamsteeg Erik-Jan, Zaki Maha S, Scardamaglia Annarita, Zifarelli Giovanni, Al-Hassnan Zuhair Nasser, Miller Elka, Shinar Shiri, Matsa Lova S, Appikonda Sri Hari Chandan, Schwake Michael, Severino Mariasavina, Houlden Henry, Patten Shunmoogum A, Bonifacino Juan S, Bhatia Kailash P, Krainc Dimitri

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

NR2F2基因的杂合罕见变异会导致一种可识别的多发性先天性异常综合征,并伴有发育迟缓。

Ganapathi, Mythily; Matsuoka, Leticia S; March, Michael; Li, Dong; Brokamp, Elly; Benito-Sanz, Sara; White, Susan M; Lachlan, Katherine; Ahimaz, Priyanka; Sewda, Anshuman; Bastarache, Lisa; Thomas-Wilson, Amanda; Stoler, Joan M; Bramswig, Nuria C; Baptista, Julia; Stals, Karen; Demurger, Florence; Cogne, Benjamin; Isidor, Bertrand; Bedeschi, Maria Francesca; Peron, Angela; Amiel, Jeanne; Zackai, Elaine; Schacht, John P; Iglesias, Alejandro D; Morton, Jenny; Schmetz, Ariane; Seidel, Verónica; Lucia, Stephanie; Baskin, Stephanie M; Thiffault, Isabelle; Cogan, Joy D; Gordon, Christopher T; Chung, Wendy K; Bowdin, Sarah; Bhoj, Elizabeth

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

LETM1双等位基因变异会扰乱线粒体离子稳态,导致一系列临床表现,其中以神经系统受累为主。

Kaiyrzhanov, Rauan; Mohammed, Sami E M; Maroofian, Reza; Husain, Ralf A; Catania, Alessia; Torraco, Alessandra; Alahmad, Ahmad; Dutra-Clarke, Marina; Grønborg, Sabine; Sudarsanam, Annapurna; Vogt, Julie; Arrigoni, Filippo; Baptista, Julia; Haider, Shahzad; Feichtinger, René G; Bernardi, Paolo; Zulian, Alessandra; Gusic, Mirjana; Efthymiou, Stephanie; Bai, Renkui; Bibi, Farah; Horga, Alejandro; Martinez-Agosto, Julian A; Lam, Amanda; Manole, Andreea; Rodriguez, Diego-Perez; Durigon, Romina; Pyle, Angela; Albash, Buthaina; Dionisi-Vici, Carlo; Murphy, David; Martinelli, Diego; Bugiardini, Enrico; Allis, Katrina; Lamperti, Costanza; Reipert, Siegfried; Risom, Lotte; Laugwitz, Lucia; Di Nottia, Michela; McFarland, Robert; Vilarinho, Laura; Hanna, Michael; Prokisch, Holger; Mayr, Johannes A; Bertini, Enrico Silvio; Ghezzi, Daniele; Østergaard, Elsebet; Wortmann, Saskia B; Carrozzo, Rosalba; Haack, Tobias B; Taylor, Robert W; Spinazzola, Antonella; Nowikovsky, Karin; Houlden, Henry

Comment on: Disease gene identification strategies for exome sequencing by Gilissen et al. 2012

对 Gilissen 等人 2012 年发表的关于外显子组测序的疾病基因鉴定策略的评论

Baptista, Julia

Antifungal activity and genomic characterization of the biocontrol agent Bacillus velezensis CMRP 4489

生物防治剂贝莱斯芽孢杆菌CMRP 4489的抗真菌活性和基因组特征

Baptista, Julia Pezarini; Teixeira, Gustavo Manoel; de Jesus, Maria Luiza Abreu; Bertê, Rosiana; Higashi, Allan; Mosela, Mirela; da Silva, Daniel Vieira; de Oliveira, João Paulo; Sanches, Danilo Sipoli; Brancher, Jacques Duílio; Balbi-Peña, Maria Isabel; de Padua Pereira, Ulisses; de Oliveira, Admilton Gonçalves

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

阐明SETD1B相关综合征的分子和表型谱

Weerts, Marjolein J A; Lanko, Kristina; Guzmán-Vega, Francisco J; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londoño, Kelly J; Peña-Guerra, Karla A; van Bever, Yolande; van Paassen, Barbara W; Kievit, Anneke; van Slegtenhorst, Marjon; Allen, Nicholas M; Kehoe, Caroline M; Robinson, Hannah K; Pang, Lewis; Banu, Selina H; Zaman, Mashaya; Efthymiou, Stephanie; Houlden, Henry; Järvelä, Irma; Lauronen, Leena; Määttä, Tuomo; Schrauwen, Isabelle; Leal, Suzanne M; Ruivenkamp, Claudia A L; Barge-Schaapveld, Daniela Q C M; Peeters-Scholte, Cacha M P C D; Galehdari, Hamid; Mazaheri, Neda; Sisodiya, Sanjay M; Harrison, Victoria; Sun, Angela; Thies, Jenny; Pedroza, Luis Alberto; Lara-Taranchenko, Yana; Chinn, Ivan K; Lupski, James R; Garza-Flores, Alexandra; McGlothlin, Jeffery; Yang, Lin; Huang, Shaoping; Wang, Xiaodong; Jewett, Tamison; Rosso, Gretchen; Lin, Xi; Mohammed, Shehla; Merritt, J Lawrence 2nd; Mirzaa, Ghayda M; Timms, Andrew E; Scheck, Joshua; Elting, Mariet W; Polstra, Abeltje M; Schenck, Lauren; Ruzhnikov, Maura R Z; Vetro, Annalisa; Montomoli, Martino; Guerrini, Renzo; Koboldt, Daniel C; Mosher, Theresa Mihalic; Pastore, Matthew T; McBride, Kim L; Peng, Jing; Pan, Zou; Willemsen, Marjolein; Koning, Susanne; Turnpenny, Peter D; de Vries, Bert B A; Gilissen, Christian; Pfundt, Rolph; Lees, Melissa; Braddock, Stephen R; Klemp, Kara C; Vansenne, Fleur; van Gijn, Marielle E; Quindipan, Catherine; Deardorff, Matthew A; Hamm, J Austin; Putnam, Abbey M; Baud, Rebecca; Walsh, Laurence; Lynch, Sally A; Baptista, Julia; Person, Richard E; Monaghan, Kristin G; Crunk, Amy; Keller-Ramey, Jennifer; Reich, Adi; Elloumi, Houda Zghal; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Haghshenas, Sadegheh; Maroofian, Reza; Sadikovic, Bekim; Banka, Siddharth; Arold, Stefan T; Barakat, Tahsin Stefan

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K(+) channelopathies

由KCNH1、KCNK4和KCNN3基因功能获得性变异引起的综合征性疾病——K(+)通道病的一个亚组

Gripp, Karen W; Smithson, Sarah F; Scurr, Ingrid J; Baptista, Julia; Majumdar, Anirban; Pierre, Germaine; Williams, Maggie; Henderson, Lindsay B; Wentzensen, Ingrid M; McLaughlin, Heather; Leeuwen, Lisette; Simon, Marleen E H; van Binsbergen, Ellen; Dinulos, Mary Beth P; Kaplan, Julie D; McRae, Anne; Superti-Furga, Andrea; Good, Jean-Marc; Kutsche, Kerstin

L1CAM variants cause two distinct imaging phenotypes on fetal MRI

L1CAM变异导致胎儿MRI出现两种不同的成像表型。

Accogli, Andrea; Goergen, Stacy; Izzo, Giana; Mankad, Kshitij; Krajden Haratz, Karina; Parazzini, Cecilia; Fahey, Michael; Menzies, Lara; Baptista, Julia; Carpineta, Lucia; Tortora, Domenico; Fulcheri, Ezio; Gaetano Vellone, Valerio; Paladini, Dario; Spaccini, Luigina; Toto, Valentina; Trayers, Claire; Ben Sira, Liat; Reches, Adi; Malinger, Gustavo; Salpietro, Vincenzo; De Marco, Patrizia; Srour, Myriam; Zara, Federico; Capra, Valeria; Rossi, Andrea; Severino, Mariasavina

Rapid exome sequencing: revolutionises the management of acutely unwell neonates

快速外显子组测序:彻底改变了急性重症新生儿的治疗方式

Williamson, Sarah L; Rasanayagam, Christina N; Glover, Kate J; Baptista, Julia; Naik, Swati; Satodia, Prakash; Gowda, Harsha