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

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

遗传修饰因子和检测结果驱动复杂疾病的变异性表达

Jensen, Matthew; Smolen, Corrine; Tyryshkina, Anastasia; Pizzo, Lucilla; Sun, Jiawan; Noss, Serena; Banerjee, Deepro; Oetjens, Matthew; Shimelis, Hermela; Taylor, Cora M; Pounraja, Vijay Kumar; Song, Hyebin; Rohan, Laura; Huber, Emily; El Khattabi, Laila; van de Laar, Ingrid; Tadros, Rafik; Bezzina, Connie R; van Slegtenhorst, Marjon; Kammeraad, Janneke; Prontera, Paolo; Caberg, Jean-Hubert; Fraser, Harry; Banka, Siddharth; Van Dijck, Anke; Schwartz, Charles; Voorhoeve, Els; Callier, Patrick; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Lefebvre, Mathilde; Pope, Kate; Snell, Penny; Boys, Amber; Lockhart, Paul J; Ashfaq, Myla; McCready, Elizabeth; Nowacyzk, Margaret; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Bruccheri, Maria Grazia; Mandarà, Giuseppa Maria Luana; Mari, Francesca; Privitera, Flavia; Longo, Ilaria; Curró, Aurora; Renieri, Alessandra; Keren, Boris; Charles, Perrine; Cuinat, Silvestre; Nizon, Mathilde; Pichon, Olivier; Bénéteau, Claire; Stoeva, Radka; Martin-Coignard, Dominique; Blesson, Sophia; Le Caignec, Cedric; Mercier, Sandra; Vincent, Marie; Martin, Christa L; Mannik, Katrin; Reymond, Alexandre; Faivre, Laurence; Sistermans, Erik; Kooy, R Frank; Amor, David J; Romano, Corrado; Andrieux, Joris; Girirajan, Santhosh

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

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

深层组织测序可提高局灶性皮质发育不良的基因诊断率。

Galea Breana, Reid Joshua, Gooley Samuel, Witkowski Tom, Lane Tara, Macdonald Sian, Green Timothy E, Ye Zimeng, Adikari Thiuni, Bulluss Kristian, Mullen Saul A, Bennett Caitlin A, Forster Brialie, Bradshaw Gabi, Lin Wendi, De Silva Wasanthi, Ramirez Rosita B, Khoshkhoo Sattar, Gupta Sachin, Krivanek Michael, Kothur Kavitha, Gill Deepak, Pope Kate, Gillies Greta, Coleman Matthew, Lee Wei-Shern, Stephenson Sarah M, Maixner Wirginia, Harvey A Simon, Macdonald-Laurs Emma, Howell Katherine B, D'Arcy Colleen, Lockhart Paul J, Leventer Richard J, Kalnins Renata M, Clark Jonathan, Bennett Mark F, Bahlo Melanie, Scheffer Ingrid E, Perucca Piero, Berkovic Samuel F, Hildebrand Michael S

An integrated framework for functional dissection of variable expressivity in genetic disorders.

针对遗传疾病中可变表达的功能性剖析,构建一个综合框架

Sun Jiawan, Noss Serena, Banerjee Deepro, Bhavana Venkata Hemanjani, Smolen Corrine, Das Maitreya, Giardine Belinda, Prabhu Anisha, Amor David J, Pope Kate, Lockhart Paul J, Girirajan Santhosh

Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations

外显子组测序及其后续研究分析在人类脑畸形诊断中的应用价值

Kooshavar, Daniz; Amor, David J; Boggs, Kirsten; Baker, Naomi; Barnett, Christopher; de Silva, Michelle G; Edwards, Samantha; Fahey, Michael C; Marum, Justine E; Snell, Penny; Bozaoglu, Kiymet; Pope, Kate; Mohammad, Shekeeb S; Riney, Kate; Sachdev, Rani; Scheffer, Ingrid E; Schenscher, Sarah; Silberstein, John; Smith, Nicholas; Tom, Melanie; Ware, Tyson L; Lockhart, Paul J; Leventer, Richard J

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

FGF14基因内含子GAA重复序列扩增导致常染色体显性遗传的成人发病型共济失调SCA27B/ATX-FGF14

Rafehi, Haloom; Read, Justin; Szmulewicz, David J; Davies, Kayli C; Snell, Penny; Fearnley, Liam G; Scott, Liam; Thomsen, Mirja; Gillies, Greta; Pope, Kate; Bennett, Mark F; Munro, Jacob E; Ngo, Kathie J; Chen, Luke; Wallis, Mathew J; Butler, Ernest G; Kumar, Kishore R; Wu, Kathy Hc; Tomlinson, Susan E; Tisch, Stephen; Malhotra, Abhishek; Lee-Archer, Matthew; Dolzhenko, Egor; Eberle, Michael A; Roberts, Leslie J; Fogel, Brent L; Brüggemann, Norbert; Lohmann, Katja; Delatycki, Martin B; Bahlo, Melanie; Lockhart, Paul J

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14

FGF14基因内含子GAA重复序列扩增导致常染色体显性遗传的成人发病型共济失调SCA50/ATX-FGF14

Rafehi, Haloom; Read, Justin; Szmulewicz, David J; Davies, Kayli C; Snell, Penny; Fearnley, Liam G; Scott, Liam; Thomsen, Mirja; Gillies, Greta; Pope, Kate; Bennett, Mark F; Munro, Jacob E; Ngo, Kathie J; Chen, Luke; Wallis, Mathew J; Butler, Ernest G; Kumar, Kishore R; Wu, Kathy Hc; Tomlinson, Susan E; Tisch, Stephen; Malhotra, Abhishek; Lee-Archer, Matthew; Dolzhenko, Egor; Eberle, Michael A; Roberts, Leslie J; Fogel, Brent L; Brüggemann, Norbert; Lohmann, Katja; Delatycki, Martin B; Bahlo, Melanie; Lockhart, Paul 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

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

脑脊液液体活检用于检测脑部体细胞嵌合现象

Ye, Zimeng; Chatterton, Zac; Pflueger, Jahnvi; Damiano, John A; McQuillan, Lara; Harvey, Anthony Simon; Malone, Stephen; Do, Hongdo; Maixner, Wirginia; Schneider, Amy; Nolan, Bernadette; Wood, Martin; Lee, Wei Shern; Gillies, Greta; Pope, Kate; Wilson, Michael; Lockhart, Paul J; Dobrovic, Alexander; Scheffer, Ingrid E; Bahlo, Melanie; Leventer, Richard J; Lister, Ryan; Berkovic, Samuel F; Hildebrand, Michael S

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

基于生物信息学的扩增重复序列鉴定:RFC1 中非参考内含子五聚体扩增导致 CANVAS

Rafehi, Haloom; Szmulewicz, David J; Bennett, Mark F; Sobreira, Nara L M; Pope, Kate; Smith, Katherine R; Gillies, Greta; Diakumis, Peter; Dolzhenko, Egor; Eberle, Michael A; Barcina, María García; Breen, David P; Chancellor, Andrew M; Cremer, Phillip D; Delatycki, Martin B; Fogel, Brent L; Hackett, Anna; Halmagyi, G Michael; Kapetanovic, Solange; Lang, Anthony; Mossman, Stuart; Mu, Weiyi; Patrikios, Peter; Perlman, Susan L; Rosemergy, Ian; Storey, Elsdon; Watson, Shaun R D; Wilson, Michael A; Zee, David S; Valle, David; Amor, David J; Bahlo, Melanie; Lockhart, Paul J