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

A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia

一项前瞻性试验比较了可编程靶向长读长测序和短读长基因组测序在小脑共济失调基因诊断中的应用。

Rafehi, Haloom; Fearnley, Liam G; Read, Justin; Snell, Penny; Davies, Kayli C; Scott, Liam; Gillies, Greta; Thompson, Genevieve C; Field, Tess A; Eldo, Aleena; Bodek, Simon; Butler, Ernest; Chen, Luke; Drago, John; Goel, Himanshu; Hackett, Anna; Halmagyi, G Michael; Hannaford, Andrew; Kotschet, Katya; Kumar, Kishore R; Kumble, Smitha; Lee-Archer, Matthew; Malhotra, Abhishek; Paine, Mark; Poon, Michael; Pope, Kate; Reardon, Katrina; Ring, Steven; Ronan, Anne; Silsby, Matthew; Smyth, Renee; Stutterd, Chloe; Wallis, Mathew; Waterston, John; Wellings, Thomas; West, Kirsty; Wools, Christine; Wu, Kathy H C; Szmulewicz, David J; Delatycki, Martin B; Bahlo, Melanie; Lockhart, Paul J

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy

早期发病的异染性脑白质营养不良症中,发育迟缓可能先于神经系统退化出现。

Adang, Laura Ann; Groeschel, Samuel; Grzyb, Chloe; D'Aiello, Russell; Gavazzi, Francesco; Sherbini, Omar; Bronner, Nowa; Patel, Akshilkumar; Vincent, Ariel; Sevagamoorthy, Anjana; Mutua, Sylvia; Muirhead, Kayla; Schmidt, Johanna; Pizzino, Amy; Yu, Emily; Jin, Danielle; Eichler, Florian; Fraser, Jamie L; Emrick, Lisa; Van Haren, Keith; Boulanger, Jean-Martin; Ruzhnikov, Maura; Sylvain, Michel; Nguyen, Cam-Tu Émilie; Potic, Ana; Keller, Stephanie; Fatemi, Ali; Uebergang, Eloise; Poe, Michele; Yazdani, Pouneh Amir; Bernat, John; Lindstrom, Kristen; Bonkowsky, Joshua L; Bernard, Genevieve; Stutterd, Chloe A; Orchard, Paul; Gupta, Ashish O; Ljungberg, Merete; Groenborg, Sabine; Zambon, Alberto; Locatelli, Sara; Fumagalli, Francesca; Elguen, Saskia; Kehrer, Christiane; Krägeloh-Mann, Ingeborg; Shults, Justine; Vanderver, Adeline; Escolar, Maria L

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless

澳大利亚首个以成人为中心的未确诊疾病项目(AHA-UDP)的经验:解决罕见且令人困惑的遗传疾病不分年龄

Wallis, Mathew; Bodek, Simon D; Munro, Jacob; Rafehi, Haloom; Bennett, Mark F; Ye, Zimeng; Schneider, Amy; Gardiner, Fiona; Valente, Giulia; Murdoch, Emma; Uebergang, Eloise; Hunter, Jacquie; Stutterd, Chloe; Huq, Aamira; Salmon, Lucinda; Scheffer, Ingrid; Eratne, Dhamidhu; Meyn, Stephen; Fong, Chun Y; John, Tom; Mullen, Saul; White, Susan M; Brown, Natasha J; McGillivray, George; Chen, Jesse; Richmond, Chris; Hughes, Andrew; Krzesinski, Emma; Fennell, Andrew; Chambers, Brian; Santoreneos, Renee; Le Fevre, Anna; Hildebrand, Michael S; Bahlo, Melanie; Christodoulou, John; Delatycki, Martin; Berkovic, Samuel F

Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability

比较唾液和血液样本以检测导致综合征性智力障碍的嵌合型基因组异常

Francis, David I; Stark, Zornitza; Scheffer, Ingrid E; Tan, Tiong Yang; Murali, Krithika; Gallacher, Lyndon; Amor, David J; Goel, Himanshu; Downie, Lilian; Stutterd, Chloe A; Krzesinski, Emma I; Vasudevan, Anand; Oertel, Ralph; Petrovic, Vida; Boys, Amber; Wei, Vivian; Burgess, Trent; Dun, Karen; Oliver, Karen L; Baxter, Anne; Hackett, Anna; Ayres, Samantha; Lunke, Sebastian; Kalitsis, Paul; Wall, Meaghan

Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people

调查澳大利亚原住民和托雷斯海峡岛民在获得澳大利亚临床遗传健康服务方面存在的差异

Luke, Joanne; Dalach, Philippa; Tuer, Lindsay; Savarirayan, Ravi; Ferdinand, Angeline; McGaughran, Julie; Kowal, Emma; Massey, Libby; Garvey, Gail; Dawkins, Hugh; Jenkins, Misty; Paradies, Yin; Pearson, Glenn; Stutterd, Chloe A; Baynam, Gareth; Kelaher, Margaret

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

SCN8A相关疾病的基因型-表型相关性揭示了其预后和治疗意义。

Johannesen, Katrine M; Liu, Yuanyuan; Koko, Mahmoud; Gjerulfsen, Cathrine E; Sonnenberg, Lukas; Schubert, Julian; Fenger, Christina D; Eltokhi, Ahmed; Rannap, Maert; Koch, Nils A; Lauxmann, Stephan; Krüger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthová, Petra; Vlckova, Marketa; Lemke, Johannes R; Platzer, Konrad; Krey, Ilona; Heine, Constanze; Wieczorek, Dagmar; Kroell-Seger, Judith; Lund, Caroline; Klein, Karl Martin; Au, P Y Billie; Rho, Jong M; Ho, Alice W; Masnada, Silvia; Veggiotti, Pierangelo; Giordano, Lucio; Accorsi, Patrizia; Hoei-Hansen, Christina E; Striano, Pasquale; Zara, Federico; Verhelst, Helene; Verhoeven, Judith S; Braakman, Hilde M H; van der Zwaag, Bert; Harder, Aster V E; Brilstra, Eva; Pendziwiat, Manuela; Lebon, Sebastian; Vaccarezza, Maria; Le, Ngoc Minh; Christensen, Jakob; Grønborg, Sabine; Scherer, Stephen W; Howe, Jennifer; Fazeli, Walid; Howell, Katherine B; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Bénédicte; Matricardi, Sara; Bonardi, Claudia M; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vøllo, Arve; Motazacker, M Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caume, Roseline; Roubertie, Agathe; Gélisse, Philippe; Marini, Carla; Guerrini, Renzo; Bilan, Frederic; Tibussek, Daniel; Koch-Hogrebe, Margarete; Perry, M Scott; Ichikawa, Shoji; Dadali, Elena; Sharkov, Artem; Mishina, Irina; Abramov, Mikhail; Kanivets, Ilya; Korostelev, Sergey; Kutsev, Sergey; Wain, Karen E; Eisenhauer, Nancy; Wagner, Monisa; Savatt, Juliann M; Müller-Schlüter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie Cecile; Destrée, Anne; Schoonjans, An Sofie; Meuwissen, Marije; Buzatu, Marga; Jansen, Anna; Scalais, Emmanuel; Srivastava, Siddharth; Tan, Wen Hann; Olson, Heather E; Loddenkemper, Tobias; Poduri, Annapurna; Helbig, Katherine L; Helbig, Ingo; Fitzgerald, Mark P; Goldberg, Ethan M; Roser, Timo; Borggraefe, Ingo; Brünger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Heyne, Henrike O; Lesca, Gaetan; Hedrich, Ulrike B S; Benda, Jan; Gardella, Elena; Lerche, Holger; Møller, Rikke S

Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program

从维多利亚州未确诊疾病计划前150个家庭的多方面诊断方法中汲取的经验教训

Cloney, Thomas; Gallacher, Lyndon; Pais, Lynn S; Tan, Natalie B; Yeung, Alison; Stark, Zornitza; Brown, Natasha J; McGillivray, George; Delatycki, Martin B; de Silva, Michelle G; Downie, Lilian; Stutterd, Chloe A; Elliott, Justine; Compton, Alison G; Lovgren, Alysia; Oertel, Ralph; Francis, David; Bell, Katrina M; Sadedin, Simon; Lim, Sze Chern; Helman, Guy; Simons, Cas; Macarthur, Daniel G; Thorburn, David R; O'Donnell-Luria, Anne H; Christodoulou, John; White, Susan M; Tan, Tiong Yang

Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services

未分类的白质疾病:诊断过程需要临床和实验室服务部门密切合作。

Stutterd, C A; Vanderver, A; Lockhart, P J; Helman, G; Pope, K; Uebergang, E; Love, C; Delatycki, M B; Thorburn, D; Mackay, M T; Peters, H; Kornberg, A J; Patel, C; Rodriguez-Casero, V; Waak, M; Silberstein, J; Sinclair, A; Nolan, M; Field, M; Davis, M R; Fahey, M; Scheffer, I E; Freeman, J L; Wolf, N I; Taft, R J; van der Knaap, M S; Simons, C; Leventer, R J

Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing

多小脑回畸形的遗传异质性:一项基于深度测序的123例患者研究

Stutterd, Chloe A; Brock, Stefanie; Stouffs, Katrien; Fanjul-Fernandez, Miriam; Lockhart, Paul J; McGillivray, George; Mandelstam, Simone; Pope, Kate; Delatycki, Martin B; Jansen, Anna; Leventer, Richard J

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

一种相对常见的纯合 TRAPPC4 剪接变体与婴儿早期神经退行性疾病有关

Shereen G Ghosh #, Marcello Scala #, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang, Martin W Breuss, Neda Mazaheri, Laila Selim, Fatemeh Hadipour, Lynn Pais, Chloe A Stutterd, Vasiliki Karageorgou, Amber Begtrup, Amy Crunk, Jane Juusola, Rebecca Willaert, Leigh A Flore, Kelly Kennelly,