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

Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models.

泛硫乙胺可改善 PPCS 缺乏症患者和细胞系模型中的扩张型心肌病特征

Zhang Fangfang, Dorn Tatjana, Gnutti Barbara, Anikster Yair, Kuebler Sarah, Ahrens-Nicklas Rebecca, Gosselin Rachel, Rahman Shamima, Durst Ronen, Zanuttigh Enrica, Güra Miriam A, Poch Christine M, Meier Anna B, Laugwitz Karl-Ludwig, Schüller Hans-Joachim, Messias Ana C, Sibon Ody C, Finazzi Dario, Rippert Alyssa, Li Dong, Truxal Kristen, Nandi Deipanjan, Lampert Brent C, Yeo Mildrid, Gardham Alice, Nissan Batel, Horowitz Cederboim Smadar, Moretti Alessandra, Iuso Arcangela

Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q(10) Biosynthesis Disorders

单中心队列中辅酶Q(10)生物合成障碍患者的临床特征、生化、影像学和治疗反应

Wahedi, Azizia; Sudhakar, Sniya; Lam, Amanda; Ciancio, Jose Ignacio Rodriguez; Mills, Philippa; Gissen, Paul; Gardham, Alice; Kapadia, Jogesh; Hassell, Jane; Heales, Simon; Rahman, Shamima

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders

对患有严重发育障碍的儿童进行基因诊断后的大规模结果评估

Copeland, Harriet; Low, Karen J; Wynn, Sarah L; Ahmed, Ayesha; Arthur, Victoria; Balasubramanian, Meena; Bennett, Katya; Berg, Jonathan; Bertoli, Marta; Bryson, Lisa; Bucknall, Catrin; Campbell, Jamie; Chandler, Kate; Chauhan, Jaynee; Clarkson, Amy; Coles, Rachel; Conti, Hector; Costello, Philandra; Coupar, Tessa; Craig, Amy; Dean, John; Dillon, Amy; Dixit, Abhijit; Drew, Kathryn; Eason, Jacqueline; Forzano, Francesca; Foulds, Nicola; Gardham, Alice; Ghali, Neeti; Green, Andrew; Hanna, William; Harrison, Rachel; Hegarty, Mairead; Higgs, Jenny; Holder, Muriel; Irving, Rachel; Jain, Vani; Johnson, Katie; Jolley, Rachel; Jones, Wendy D; Jones, Gabriela; Joss, Shelagh; Kalinauskiene, Ruta; Kanani, Farah; Kavanagh, Karl; Khan, Mahmudur; Khan, Naz; Kivuva, Emma; Lahiri, Nayana; Lakhani, Neeta; Lampe, Anne; Lynch, Sally Ann; Mansour, Sahar; Marsden, Alice; Massey, Hannah; McKee, Shane; Mohammed, Shehla; Naik, Swati; Nesarajah, Mithushanaa; Newbury-Ecob, Ruth; Osborne, Fiona; Parker, Michael J; Patterson, Jenny; Pottinger, Caroline; Prapa, Matina; Prescott, Katrina; Quinn, Shauna; Radley, Jessica A; Robart, Sarah; Ross, Alison; Rosti, Giulia; Sansbury, Francis H; Sarkar, Ajoy; Searle, Claire; Shannon, Nora; Shears, Debbie; Smithson, Sarah; Stewart, Helen; Suri, Mohnish; Tadros, Shereen; Theobald, Rachel; Thomas, Rhian; Tsoulaki, Olga; Vasudevan, Pradeep; Rodriguez, Maribel Verdesoto; Vittery, Emma; Whyte, Sinead; Woods, Emily; Wright, Thomas; Zocche, David; Firth, Helen V; Wright, Caroline F

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

对携带致病性新生突变的婴儿出生后进行个性化复发风险评估

Bernkopf, Marie; Abdullah, Ummi B; Bush, Stephen J; Wood, Katherine A; Ghaffari, Sahar; Giannoulatou, Eleni; Koelling, Nils; Maher, Geoffrey J; Thibaut, Loïc M; Williams, Jonathan; Blair, Edward M; Kelly, Fiona Blanco; Bloss, Angela; Burkitt-Wright, Emma; Canham, Natalie; Deng, Alexander T; Dixit, Abhijit; Eason, Jacqueline; Elmslie, Frances; Gardham, Alice; Hay, Eleanor; Holder, Muriel; Homfray, Tessa; Hurst, Jane A; Johnson, Diana; Jones, Wendy D; Kini, Usha; Kivuva, Emma; Kumar, Ajith; Lees, Melissa M; Leitch, Harry G; Morton, Jenny E V; Németh, Andrea H; Ramachandrappa, Shwetha; Saunders, Katherine; Shears, Deborah J; Side, Lucy; Splitt, Miranda; Stewart, Alison; Stewart, Helen; Suri, Mohnish; Clouston, Penny; Davies, Robert W; Wilkie, Andrew O M; Goriely, Anne

Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome

HNRNPU基因的种系致病变异与血液甲基化组的改变相关。

Lee, Sunwoo; Ochoa, Eguzkine; Badura-Stronka, Magdalena; Donnelly, Deirdre; Lederer, Damien; Lynch, Sally A; Gardham, Alice; Morton, Jenny; Stewart, Helen; Docquier, France; Rodger, Fay; Martin, Ezequiel; Toribio, Ana; Maher, Eamonn R; Balasubramanian, Meena

Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis

扩大ELOVL4相关常染色体隐性遗传性神经鱼鳞病的等位基因谱

Alabdulrazzaq, Fatima; Alanzi, Talal; Al-Balool, Haya H; Gardham, Alice; Wakeling, Emma; Leitch, Harry G; AlSayed, Moeenaldeen; Abdulrahim, Maha; Aladwani, Abdulaziz; Romito, Antonio; Kampe, Kapil; Ferdinandusse, Sacha; Aboelanine, Ashraf H; Abdullah, Amira; Alwadani, Amal; Bastaki, Laila; Vaz, Frédéric M; Bertoli-Avella, Aida M; Marafi, Dana

Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea

KCNK3基因的功能获得性突变会导致一种伴有睡眠呼吸暂停的发育障碍

Sörmann, Janina; Schewe, Marcus; Proks, Peter; Jouen-Tachoire, Thibault; Rao, Shanlin; Riel, Elena B; Agre, Katherine E; Begtrup, Amber; Dean, John; Descartes, Maria; Fischer, Jan; Gardham, Alice; Lahner, Carrie; Mark, Paul R; Muppidi, Srikanth; Pichurin, Pavel N; Porrmann, Joseph; Schallner, Jens; Smith, Kirstin; Straub, Volker; Vasudevan, Pradeep; Willaert, Rebecca; Carpenter, Elisabeth P; Rödström, Karin E J; Hahn, Michael G; Müller, Thomas; Baukrowitz, Thomas; Hurles, Matthew E; Wright, Caroline F; Tucker, Stephen J

Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation

利用“十万基因组计划”的数据来解决对复发性TUBB2A突变的不同解读

Ragoussis, Vassilis; Pagnamenta, Alistair T; Haines, Rebecca L; Giacopuzzi, Edoardo; McClatchey, Martin A; Sampson, Julian R; Suri, Mohnish; Gardham, Alice; Cobben, Jan-Maarten; Osio, Deborah; Fry, Andrew E; Taylor, Jenny C

Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model

致病性NR2F1变异体导致发育性眼部表型,该表型在突变小鼠模型中得到重现。

Jurkute, Neringa; Bertacchi, Michele; Arno, Gavin; Tocco, Chiara; Kim, Ungsoo Samuel; Kruszewski, Adam M; Avery, Robert A; Bedoukian, Emma C; Han, Jinu; Ahn, Sung Jun; Pontikos, Nikolas; Acheson, James; Davagnanam, Indran; Bowman, Richard; Kaliakatsos, Marios; Gardham, Alice; Wakeling, Emma; Oluonye, Ngozi; Reddy, Maddy Ashwin; Clark, Elaine; Rosser, Elisabeth; Amati-Bonneau, Patrizia; Charif, Majida; Lenaers, Guy; Meunier, Isabelle; Defoort, Sabine; Vincent-Delorme, Catherine; Robson, Anthony G; Holder, Graham E; Jeanjean, Luc; Martinez-Monseny, Antonio; Vidal-Santacana, Mariona; Dominici, Chloé; Gaggioli, Cedric; Giordano, Nadia; Caleo, Matteo; Liu, Grant T; Webster, Andrew R; Studer, Michèle; Yu-Wai-Man, Patrick

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

143例ARID1B患者的疾病谱:从非综合征性智力障碍到科芬-西里斯综合征

van der Sluijs, Pleuntje J; Jansen, Sandra; Vergano, Samantha A; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Wödl, Stefanie; Berry, Katherine; Bijlsma, Emilia K; Bok, Levinus A; Brouwer, Alwin F J; van der Burgt, Ineke; Campeau, Philippe M; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W Y; Chung, Brain H Y; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R; Herkert, Johanna C; den Hollander, Nicolette S; Horn, Denise; Hunt, David; Kant, Sarina G; Kato, Mitsuhiro; Kayserili, Hülya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W; Lederer, Damien; Lees, Melissa; López-González, Vanesa; Maas, Saskia; Mancini, Grazia M S; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B; Netzer, Christian; Ockeloen, Charlotte W; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N M; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G; Rosello, Monica; Ruivenkamp, Claudia A L; Sagiroglu, Mahmut S; Sallevelt, Suzanne C E H; Sanchis Calvo, Amparo; Simsek-Kiper, Pelin O; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P A; Stumpel, Constance T R M; Tanabe, Saori; Uctepe, Eyyup; Utine, G Eda; Veenstra-Knol, Hermine E; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T; Wheeler, Patricia; Wilson, Golder N; Wilson, Louise C; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B A; Clayton-Smith, Jill; Santen, Gijs W E