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

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia

由回文序列介导的16p13.3三倍体可导致一种可识别的神经退行性疾病,并伴有共济失调。

Fasham, James; Rankin, Julia; Schot, Rachel; White, Susan M; Bell, Katrina M; Wakeling, Matthew N; Mallin, Lucy J; Shah, Alex; de Silva, Michelle G; Francis, David I; Walsh, Maie; Jones, Emily E; Vijayakumar, Kayal; Johnson, Katie; Sansbury, Francis H; Te Water Naudé, Johann; Giunti, Paola; Hadjivassiliou, Marios; Nemeth, Andrea H; Tofaris, George K; Rinaldi, Carlo; Banos-Pinero, Benito; Selikhva, Marianna; Ubeyratna, Nishanka; Kievit, Anneke; Sleutels, Frank; van Giessen, Joey; Barakat, Tahsin Stefan; Hall, Timothy S; Whone, Alan; Thomas, Eleanor; Leslie, Joseph S; Bamford, Rosemary A; Jeffries, Aaron R; Lord, Jenny; Walker, Susan; van Ham, Tjakko J; Hill, Sue L; McGavin, Lucy; Parrish, Andrew; Crosby, Andrew H; Baple, Emma L; Pagnamenta, Alistair T

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools

对潜在剪接变体进行常规的基于RNA的分析有助于基因组诊断,并揭示计算机预测工具的局限性。

Drost, Mark; Dekker, Jordy; Ferraro, Federico; Kasteleijn, Esmee; Verschuren, Marije; Kroon, Evelien; Douben, Hannie C W; Vogt, Inte; van Unen, Leontine; Hoogeveen-Westerveld, Marianne; Elfferich, Peter; Schot, Rachel; Calandrini, Camilla; Korpershoek, Esther; Sleutels, Frank; Brüggenwirth, Hennie B R; Hollink, Iris R; Meerstein-Kessel, Lisette; Hoefsloot, Lies H; van Slegtenhorst, Marjon; Wilke, Martina; Weerts, Marjolein J A; van Minkelen, Rick; Wagner, Anja; Bouman, Arjan; van Paassen, Barbara W; Verheijen-Mancini, Grazia M; van de Laar, Ingrid M B H; Kievit, Anneke J A; Verhagen, Judith M A; Stuurman, Kyra E; Donker Kaat, Laura; van Dooren, Marieke F; Wessels, Marja W; Oldenburg, Rogier A; Zeidler, Shimriet; van Dijk, Tessa; Barakat, Tahsin Stefan; Verhoeven, Virginie J M; van Bever, Yolande; van Ierland, Yvette; Bannink, Natalja; van Koningsbruggen, Silvana; Lakeman, Phillis; Leeuwen, Lisette; Verbeek, Nienke E; Sinnema, Margje; Heijligers, Malou; van Asperen, Christi J; Saris, Jasper J; Nellist, Mark; van Ham, Tjakko J

A clinical and genotype-phenotype analysis of MACF1 variants

MACF1变异体的临床和基因型-表型分析

Dekker, Jordy; Schot, Rachel; Aldinger, Kimberly A; Everman, David B; Washington, Camerun; Jones, Julie R; Sullivan, Jennifer A; Spillmann, Rebecca C; Shashi, Vandana; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Mosca-Boidron, Anne-Laure; Perrin, Laurence; Auvin, Stéphane; Zaki, Maha S; Gleeson, Joseph G; Meave, Naomi; Wallace, Cassidy; Nambot, Sophie; Delanne, Julian; Ruggiero, Sarah M; Helbig, Ingo; Fitzgerald, Mark P; Leventer, Richard J; Grange, Dorothy K; Argilli, Emanuela; Sherr, Elliott H; Prakash, Supraja; Neilson, Derek E; Nicita, Francesco; Sferra, Antonella; Bertini, Enrico S; Aiello, Chiara; Brockmann, Knut; Kuranov, Alexander B; Kaulfuss, Silke; Basit, Sulman; Alluqmani, Majed; Almatrafi, Ahmad; Friedman, Jan M; Guimond, Colleen; Mohammed, Faruq; Sharma, Pooja; Goel, Divya; Wirth, Thomas; Anheim, Mathieu; Bahena, Paulina; Koparir, Asuman; Kolokotronis, Konstantinos; Vona, Barbara; Haaf, Thomas; Kunstmann, Erdmute; Maroofian, Reza; Sczakiel, Henrike L; Boschann, Felix; Misra-Isrie, Mala; Louie, Raymond J; Stolerman, Elliot S; Sanchez-Lara, Pedro A; Mergler, Sandra; Oegema, Renske; Zarate, Yuri A; Kariminejad, Ariana; Tajsharghi, Homa; Zeidler, Shimriet; Kievit, Anneke J A; Bouman, Arjan; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Stuurman, Kyra E; Swols, Dayna Morel; Tekin, Mustafa; Upadia, Jariya; Martin, Donna M; Craven, Daniel; Hiatt, Susan M; van de Pol, Laura A; D'Arco, Felice; Margot, Henri; Wilke, Martina; Yousefi, Soheil; Barakat, Tahsin Stefan; van Veghel-Plandsoen, Monique M; Aronica, Eleonora; Anink, Jasper; Rogers, Stephen L; Slep, Kevin C; Doherty, Dan; Dobyns, William B; Mancini, Grazia M S

Pervasive glycative stress links metabolic imbalance and muscle atrophy in early-onset Parkinson's disease.

普遍存在的糖化应激与早发性帕金森病中的代谢失衡和肌肉萎缩有关

de Mello Natalia Prudente, Berger Michelle Tamara, Lagerborg Kim A, Yan Yingfei, Wettmarshausen Jennifer, Keipert Susanne, Weidner Leopold, Tokarz Janina, Möller Gabriele, Ciciliot Stefano, Walia Safal, Cheng Yiming, Chudenkova Margarita, Artati Anna, Weisenhorn Daniela Vogt, Wurst Wolfgang, Adamski Jerzy, Nilsson Roland, Cossu Giovanni, Boon Agnita, Kievit Anneke, Mandemakers Wim, Bonifati Vincenzo, Jain Mohit, Jastroch Martin, Schmitt-Kopplin Philippe, Perocchi Fabiana, Dyar Kenneth Allen

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders

DNA甲基化特征在神经发育障碍常规诊断中的临床应用价值

Smits, Daphne J; Debuy, Christophe; Brooks, Alice S; Schot, Rachel; Ferraro, Federico; Rots, Dmitrijs; Bouman, Arjan; Verhoeven, Virginie J M; Donker Kaat, Laura; Kant, Sarina G; van Bever, Yolande; Demirdas, Serwet; Zeidler, Shimriet; van Dooren, Marieke F; Donze, Stephany H; Hoefsloot, Lies H; van Slegtenhorst, Marjon A; Wilke, Martina; Sleutels, Frank; Drost, Mark; Brüggenwirth, Hennie T; van Minkelen, Rick; Goverde, Anne; Hol, Janna A; van de Laar, Ingrid M B H; van Ierland, Yvette; Kievit, Anneke; van der Schoot, Vyne; Stuurman, Kyra E; Mancini, Grazia M S; Wessels, Marja W; van Ham, Tjakko J; Kleefstra, Tjitske; Barakat, Tahsin Stefan

The Two Faces of Pediatric SCA2

儿童SCA2的两面性

Rive Le Gouard, Nicolas; G Bah, Maissa; Coarelli, Giulia; Heinzmann, Anna; Fauret, Anne-Laure; de Sainte-Agathe, Jean-Madeleine; Cazeneuve, Cécile; Gerasimenko, Anna; Gras, Domitille; Capri, Yline; Renaud, Mathilde; Brais, Bernard; Grenenko, Cecile; Masurel, Alice; Berquin, Patrick; Jobic, Florence; Métreau, Julia; Deiva, Kumaran; Afenjar, Alexandra; Gravrand, Victor; Lannuzel, Annie; Anheim, Mathieu; Geis, Tobias; Hehr, Ute; Madan Cohen, Jennifer; Desnous, Béatrice; J A Kievit, Anneke; Bahi-Buisson, Nadia; Rodriguez, Diana; Renaldo, Florence; Cances, Claude; Devos, David; Angelini, Chloé; Goizet, Cyril; Ewenczyk, Claire; Durr, Alexandra; Mignot, Cyril

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy

常染色体显性遗传WFS1相关视神经病变的特征及其与OPA1相关常染色体显性遗传视神经萎缩的比较

de Muijnck, Cansu; Haer-Wigman, Lonneke; van Everdingen, Judith A M; Lushchyk, Tanya; Heutinck, Pam A T; van Dooren, Marieke F; Kievit, Anneke J A; Verhoeven, Virginie J M; Simon, Marleen E H; Wasmann, Rosemarie A; Notting, Irene C; De Baere, Elfride; Walraedt, Sophie; De Zaeytijd, Julie; Van den Broeck, Filip; Leroy, Bart P; Boon, Camiel J F; van Genderen, Maria M

Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal

对 TSC1 和 TSC2 进行靶向基因组测序,揭示了先前结节性硬化症基因检测结果正常的个体中存在的致病变异。

West, Hannah D; Nellist, Mark; Brouwer, Rutger W W; van den Hout-van Vroonhoven, Mirjam C G N; de Almeida, Luiz Gustavo Dufner; Hendriks, Femke; Elfferich, Peter; Raja, Meera; Giles, Peter; Alfano, Rosa M; Peron, Angela; Sznajer, Yves; De Waele, Liesbeth; Jansen, Anna; Koopmans, Marije; Kievit, Anneke; Farach, Laura S; Northrup, Hope; Sampson, Julian R; Thomas, Laura E; van IJcken, Wilfred F J

Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project

建立在线资源以促进全球合作和弱势群体参与:MJFF全球遗传帕金森病项目的经验

Vollstedt, Eva-Juliane; Madoev, Harutyun; Aasly, Anna; Ahmad-Annuar, Azlina; Al-Mubarak, Bashayer; Alcalay, Roy N; Alvarez, Victoria; Amorin, Ignacio; Annesi, Grazia; Arkadir, David; Bardien, Soraya; Barker, Roger A; Barkhuizen, Melinda; Basak, A Nazli; Bonifati, Vincenzo; Boon, Agnita; Brighina, Laura; Brockmann, Kathrin; Carmine Belin, Andrea; Carr, Jonathan; Clarimon, Jordi; Cornejo-Olivas, Mario; Correia Guedes, Leonor; Corvol, Jean-Christophe; Crosiers, David; Damásio, Joana; Das, Parimal; de Carvalho Aguiar, Patricia; De Rosa, Anna; Dorszewska, Jolanta; Ertan, Sibel; Ferese, Rosangela; Ferreira, Joaquim; Gatto, Emilia; Genç, Gençer; Giladi, Nir; Gómez-Garre, Pilar; Hanagasi, Hasmet; Hattori, Nobutaka; Hentati, Faycal; Hoffman-Zacharska, Dorota; Illarioshkin, Sergey N; Jankovic, Joseph; Jesús, Silvia; Kaasinen, Valtteri; Kievit, Anneke; Klivenyi, Peter; Kostic, Vladimir; Koziorowski, Dariusz; Kühn, Andrea A; Lang, Anthony E; Lim, Shen-Yang; Lin, Chin-Hsien; Lohmann, Katja; Markovic, Vladana; Martikainen, Mika Henrik; Mellick, George; Merello, Marcelo; Milanowski, Lukasz; Mir, Pablo; Öztop-Çakmak, Özgür; Pimentel, Márcia Mattos Gonçalves; Pulkes, Teeratorn; Puschmann, Andreas; Rogaeva, Ekaterina; Sammler, Esther M; Skaalum Petersen, Maria; Skorvanek, Matej; Spitz, Mariana; Suchowersky, Oksana; Tan, Ai Huey; Termsarasab, Pichet; Thaler, Avner; Tumas, Vitor; Valente, Enza Maria; van de Warrenburg, Bart; Williams-Gray, Caroline H; Wu, Ruey-Mei; Zhang, Baorong; Zimprich, Alexander; Solle, Justin; Padmanabhan, Shalini; Klein, Christine

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

106例携带主要自闭症基因CHD8变异的患者的表型谱及基因型-表型相关性研究

Dingemans, Alexander J M; Truijen, Kim M G; van de Ven, Sam; Bernier, Raphael; Bongers, Ernie M H F; Bouman, Arjan; de Graaff-Herder, Laura; Eichler, Evan E; Gerkes, Erica H; De Geus, Christa M; van Hagen, Johanna M; Jansen, Philip R; Kerkhof, Jennifer; Kievit, Anneke J A; Kleefstra, Tjitske; Maas, Saskia M; de Man, Stella A; McConkey, Haley; Patterson, Wesley G; Dobson, Amy T; Prijoles, Eloise J; Sadikovic, Bekim; Relator, Raissa; Stevenson, Roger E; Stumpel, Connie T R M; Heijligers, Malou; Stuurman, Kyra E; Löhner, Katharina; Zeidler, Shimriet; Lee, Jennifer A; Lindy, Amanda; Zou, Fanggeng; Tedder, Matthew L; Vissers, Lisenka E L M; de Vries, Bert B A