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

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions

非孤立性法洛四联症(TOF+):外显子组测序效率和表型扩展

Volpi, Julia; Zhao, Xiaonan; Owen, Nichole; Evans, Tia; Holder-Espinasse, Muriel; Lahiri, Nayana; Sherlock, Eleanor; Poke, Gemma; Breckpot, Jeroen; Devriendt, Koen; Cools, Bjorn; Brusco, Alfredo; Ferrero, Giovanni Battista; Grosso, Enrico; Vasudevan, Pradeep; Loddo, Sara; Novelli, Antonio; Digilio, Maria Cristina; Engwerda, Aafke; Hitzert, Marrit; Male, Alison; Bownass, Lucy; Newbury-Ecob, Ruth; Miedzybrodzka, Zosia; Armstrong, Ruth; Lynch, Sally Ann; Houge, Gunnar; Xiong, Shiyi; Lalani, Seema R; Rosenfeld, Jill A; Luna, Pamela N; Shaw, Chad A; Scott, Daryl A

Burnout and Coping Strategies Among Paediatric Oncologists: A Scoping Review

儿科肿瘤医师的职业倦怠及应对策略:一项范围界定综述

D, Harshitha; Verma, Vani; Ghoshal, Arun; Patil, Divya Sussana; Rao, Krithika S; Rao, Seema R; R, Amrtavarshini; K, Vasudeva Bhat; Salins, Naveen

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.

PLCG1 的杂合变异会影响听力、视力、心脏和免疫功能

Ma Mengqi, Zheng Yiming, Deng Mingxi, Lu Shenzhao, Pan Xueyang, Luo Xi, Etoundi Michelle, Li-Kroeger David, Worley Kim C, Burrage Lindsay C, Blieden Lauren S, Allworth Aimee, Chen Wei-Liang, Merla Giuseppe, Mandriani Barbara, Otten Catherine E, Blanc Pierre, Rosenfeld Jill A, Dutta Debdeep, Yamamoto Shinya, Wangler Michael F, Glass Ian A, Chen Jingheng, Blue Elizabeth, Prontera Paolo, Rosain Jeremie, Marlin Sandrine, Lalani Seema R, Bellen Hugo J

Genomics and multiomics in the age of precision medicine

精准医疗时代的基因组学和多组学

Mani, Srinivasan; Lalani, Seema R; Pammi, Mohan

Uncovering the silent public health threat: nasal carriers of linezolid-resistant, vancomycin-intermediate and mupirocin-resistant MRSA among healthcare workers in a tertiary care hospital in Central India

揭露无声的公共卫生威胁:印度中部一家三级医院医护人员鼻腔内携带耐利奈唑胺、耐万古霉素和耐莫匹罗星的耐甲氧西林金黄色葡萄球菌(MRSA)。

Bawankar, Neha S; Meshram, Prashant P; John, Riya; Gedam, Dilip S; Bhise, Swati M; Ranshoor, Nanda A; Bais, Seema R

An Exploration of Clinical Correlates and the Need for Psychosocial Care in Burn Patients

烧伤患者临床相关因素及心理社会关怀需求的探讨

Hazarika, Mythili; Barua, Chandamita; Devi, Seema R

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function

PLCG1基因的杂合变异会影响听力、视力、心脏和免疫功能。

Ma, Mengqi; Zheng, Yiming; Deng, Mingxi; Lu, Shenzhao; Pan, Xueyang; Luo, Xi; Etoundi, Michelle; Li-Kroeger, David; Worley, Kim C; Burrage, Lindsay C; Blieden, Lauren S; Allworth, Aimee; Chen, Wei-Liang; Merla, Giuseppe; Mandriani, Barbara; Otten, Catherine E; Blanc, Pierre; Rosenfeld, Jill A; Dutta, Debdeep; Yamamoto, Shinya; Wangler, Michael F; Glass, Ian A; Chen, Jingheng; Blue, Elizabeth; Prontera, Paolo; Rosain, Jeremie; Marlin, Sandrine; Lalani, Seema R; Bellen, Hugo J

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

RNU4-2 snRNA 的新生变异会导致一种常见的神经发育综合征。

Chen, Yuyang; Dawes, Ruebena; Kim, Hyung Chul; Ljungdahl, Alicia; Stenton, Sarah L; Walker, Susan; Lord, Jenny; Lemire, Gabrielle; Martin-Geary, Alexandra C; Ganesh, Vijay S; Ma, Jialan; Ellingford, Jamie M; Delage, Erwan; D'Souza, Elston N; Dong, Shan; Adams, David R; Allan, Kirsten; Bakshi, Madhura; Baldwin, Erin E; Berger, Seth I; Bernstein, Jonathan A; Bhatnagar, Ishita; Blair, Ed; Brown, Natasha J; Burrage, Lindsay C; Chapman, Kimberly; Coman, David J; Compton, Alison G; Cunningham, Chloe A; D'Souza, Precilla; Danecek, Petr; Délot, Emmanuèle C; Dias, Kerith-Rae; Elias, Ellen R; Elmslie, Frances; Evans, Care-Anne; Ewans, Lisa; Ezell, Kimberly; Fraser, Jamie L; Gallacher, Lyndon; Genetti, Casie A; Goriely, Anne; Grant, Christina L; Haack, Tobias; Higgs, Jenny E; Hinch, Anjali G; Hurles, Matthew E; Kuechler, Alma; Lachlan, Katherine L; Lalani, Seema R; Lecoquierre, François; Leitão, Elsa; Fevre, Anna Le; Leventer, Richard J; Liebelt, Jan E; Lindsay, Sarah; Lockhart, Paul J; Ma, Alan S; Macnamara, Ellen F; Mansour, Sahar; Maurer, Taylor M; Mendez, Hector R; Metcalfe, Kay; Montgomery, Stephen B; Moosajee, Mariya; Nassogne, Marie-Cécile; Neumann, Serena; O'Donoghue, Michael; O'Leary, Melanie; Palmer, Elizabeth E; Pattani, Nikhil; Phillips, John; Pitsava, Georgia; Pysar, Ryan; Rehm, Heidi L; Reuter, Chloe M; Revencu, Nicole; Riess, Angelika; Rius, Rocio; Rodan, Lance; Roscioli, Tony; Rosenfeld, Jill A; Sachdev, Rani; Shaw-Smith, Charles J; Simons, Cas; Sisodiya, Sanjay M; Snell, Penny; St Clair, Laura; Stark, Zornitza; Stewart, Helen S; Tan, Tiong Yang; Tan, Natalie B; Temple, Suzanna E L; Thorburn, David R; Tifft, Cynthia J; Uebergang, Eloise; VanNoy, Grace E; Vasudevan, Pradeep; Vilain, Eric; Viskochil, David H; Wedd, Laura; Wheeler, Matthew T; White, Susan M; Wojcik, Monica; Wolfe, Lynne A; Wolfenson, Zoe; Wright, Caroline F; Xiao, Changrui; Zocche, David; Rubenstein, John L; Markenscoff-Papadimitriou, Eirene; Fica, Sebastian M; Baralle, Diana; Depienne, Christel; MacArthur, Daniel G; Howson, Joanna M M; Sanders, Stephan J; O'Donnell-Luria, Anne; Whiffin, Nicola

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

WDR44 WD40重复结构域的变异会损害纤毛发生起始,从而导致一系列纤毛病。

Andrea Accogli # ,Saurabh Shakya # ,Taewoo Yang # ,Christine Insinna ,Soo Yeon Kim ,David Bell ,Kirill R Butov ,Mariasavina Severino ,Marcello Niceta ,Marcello Scala ,Hyun Sik Lee ,Taekyeong Yoo ,Jimmy Stauffer ,Huijie Zhao ,Chiara Fiorillo ,Marina Pedemonte ,Maria C Diana ,Simona Baldassari ,Viktoria Zakharova ,Anna Shcherbina ,Yulia Rodina ,Christina Fagerberg ,Laura Sønderberg Roos ,Jolanta Wierzba ,Artur Dobosz ,Amanda Gerard ,Lorraine Potocki ,Jill A Rosenfeld ,Seema R Lalani ,Tiana M Scott ,Daryl Scott ,Mahshid S Azamian ,Raymond Louie ,Hannah W Moore ,Neena L Champaigne ,Grace Hollingsworth ,Annalaura Torella ,Vincenzo Nigro ,Rafal Ploski ,Vincenzo Salpietro ,Federico Zara ,Simone Pizzi ,Giovanni Chillemi ,Marzia Ognibene ,Erin Cooney ,Jenny Do ,Anders Linnemann ,Martin J Larsen ,Suzanne Specht ,Kylie J Walters ,Hee-Jung Choi ,Murim Choi ,Marco Tartaglia ,Phillippe Youkharibache ,Jong-Hee Chae ,Valeria Capra ,Sung-Gyoo Park ,Christopher J Westlake

Folate as a potential treatment for lethal ventricular arrhythmias in TANGO2-deficiency disorder

叶酸是 TANGO2 缺乏症致死性室性心律失常的潜在治疗方法

Weiyi Xu, Yingqiong Cao, Sara B Stephens, Maria Jose Arredondo, Yifan Chen, William Perez, Liang Sun, Andy C Yu, Jean J Kim, Seema R Lalani, Na Li, Frank T Horrigan, Francisco Altamirano, Xander Ht Wehrens, Christina Y Miyake, Lilei Zhang