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

Diverse Genetic Etiologies of Unilateral Polymicrogyria

单侧多小脑回畸形的多种遗传病因

Lai, Abbe; Neil, Jennifer E; Akula, Shyam K; Amrom, Dina; Andermann, Eva; Bergin, Ann; Caraballo, Roberto; Chen, Allen Y; Gaitanis, John; Mochida, Ganeshwaran H; Gotoff, Jill M; Kuchukhidze, Giorgi; Marom, Daphna; ElAchkar, Christelle Moufawad; Regev, Miriam; Rodan, Lance H; Olson, Heather; Zhang, Bo; Poduri, Annapurna; Shao, Diane D; Walsh, Christopher A; Yang, Edward

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

致病性UNC13A变异体通过损害突触功能导致神经发育综合征。

Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H; Marshall, Christian R; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M; de Kruiff, Chris C; Rajabi, Farrah; Rodan, Lance H; Coury, Stephanie A; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P; Kraemer, Dennis; Prada, Carlos E; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G Christoph; Bamshad, Michael J; Campeau, Philippe M; Lehman, Anna; Hendon, Laura G; Wentzensen, Ingrid M; Monaghan, Kristin G; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K; Seeley, Andrea H; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J; Washington, Camerun; Stevens, Servi J C; Heijligers, Malou; Alkuraya, Fowzan S; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P; Kühn, Andrea A; Thoms, Sven; Morrie, Ryan D; Mekhoubad, Shila; Green, Eric M; Barmada, Sami J; Gitler, Aaron D; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S; Rauch, Anita; Lipstein, Noa

Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism

RAB3A杂合变异通过部分功能丧失机制导致小脑共济失调。

Hengel, Holger; Hannan, Shabab B; Reich, Selina; Beijer, Danique; Roller, Johanna; Gilsbach, Bernd K; Gloeckner, Christian Johannes; Greene, Daniel; Timmann, Dagmar; Depienne, Christel; Mumford, Andrew; O'Driscoll, Mary; Nemeth, Andrea H; Lundberg, Julie; Rodan, Lance H; Bruel, Ange-Line; Delanne, Julian; Deconinck, Tine; Baets, Jonathan; Gan-Or, Ziv; Rouleau, Guy; Suchowersky, Oksana; Estiar, Mehrdad A; Reich, Stephen; Toro, Camilo; Züchner, Stephan; Hazan, Jamilé; Pétursson, Hjörvar; Harmuth, Florian; Bauer, Claudia; Bauer, Peter; Turro, Ernest; Lambright, David; Schöls, Ludger; Synofzik, Matthis

Lethal neonatal acidosis: Multiomic investigation of a novel HIBCH variant as the underlying cause

致命性新生儿酸中毒:多组学研究发现一种新型HIBCH变异体是其根本原因

Patel, Sonali; Zain-Ul-Abideen, Muhammad; Guyol, Genevieve; Rodan, Lance H; Genetti, Casie A; Ren, Amy Z; Connors, Philip; Davenport, Patricia; Bartolome, Ruby; Sahai, Inderneel; Ganesh, Vijay S; Wojcik, Monica H

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities

碱性螺旋-环-螺旋转录因子BHLHE22的单等位基因和双等位基因变异会导致胼胝体发育不全、智力障碍、肌张力和运动异常等神经发育障碍。

Le, Carolyn; Argilli, Emanuela; George, Elizabeth; Kalaycı, Tuğba; Uyguner, Zehra Oya; Karaman, Birsen; Demirören, Tanju; DiTroia, Stephanie; Heron, Delphine; Sabatier, Isabelle; Rodan, Lance H; Girisha, Katta Mohan; Radhakrishnan, Periyasamy; Saunders, Carol; Sullivan, Bonnie; Fleming, Emily; Alvi, Javeria Raza; Sultan, Tipu; Houlden, Henry; Efthymiou, Stephanie; Sacoto, Maria J Guillen; Goodman, Melanie; Pierron, Lucie; De Sainte-Agathe, Jean-Madeleine; Durr, Alexandra; Sherr, Elliott H

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

27名具有神经发育迟缓表型的个体中,转录共调节因子ZMYM3存在有害的、改变蛋白质的变异

Hiatt, Susan M; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E Christopher; Abidi, Fatima E; Anderson, Ashlyn; Ansar, Muhammad; Antonarakis, Stylianos E; Azadi, Azadeh; Bachmann-Gagescu, Ruxandra; Bartuli, Andrea; Benech, Caroline; Berkowitz, Jennifer L; Betti, Michael J; Brusco, Alfredo; Cannon, Ashley; Caron, Giulia; Chen, Yanmin; Cochran, Meagan E; Coleman, Tanner F; Crenshaw, Molly M; Cuisset, Laurence; Curry, Cynthia J; Darvish, Hossein; Demirdas, Serwet; Descartes, Maria; Douglas, Jessica; Dyment, David A; Elloumi, Houda Zghal; Ermondi, Giuseppe; Faoucher, Marie; Farrow, Emily G; Felker, Stephanie A; Fisher, Heather; Hurst, Anna C E; Joset, Pascal; Kelly, Melissa A; Kmoch, Stanislav; Leadem, Benjamin R; Lyons, Michael J; Macchiaiolo, Marina; Magner, Martin; Mandrile, Giorgia; Mattioli, Francesca; McEown, Megan; Meadows, Sarah K; Medne, Livija; Meeks, Naomi J L; Montgomery, Sarah; Napier, Melanie P; Natowicz, Marvin; Newberry, Kimberly M; Niceta, Marcello; Noskova, Lenka; Nowak, Catherine B; Noyes, Amanda G; Osmond, Matthew; Prijoles, Eloise J; Pugh, Jada; Pullano, Verdiana; Quélin, Chloé; Rahimi-Aliabadi, Simin; Rauch, Anita; Redon, Sylvia; Reymond, Alexandre; Schwager, Caitlin R; Sellars, Elizabeth A; Scheuerle, Angela E; Shukarova-Angelovska, Elena; Skraban, Cara; Stolerman, Elliot; Sullivan, Bonnie R; Tartaglia, Marco; Thiffault, Isabelle; Uguen, Kevin; Umaña, Luis A; van Bever, Yolande; van der Crabben, Saskia N; van Slegtenhorst, Marjon A; Waisfisz, Quinten; Washington, Camerun; Rodan, Lance H; Myers, Richard M; Cooper, Gregory M

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster

EZH1基因中的一个新发错义变异与发育迟缓相关,并在果蝇中表现出功能缺陷。

Jangam, Sharayu; Briere, Lauren C; Jay, Kristy; Andrews, Jonathan C; Walker, Melissa A; Rodan, Lance H; High, Frances A; Yamamoto, Shinya; Sweetser, David A; Wangler, Michael

The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability

MTSS2基因中反复出现的从头突变c.2011C>T错义变异会导致综合征型智力障碍。

Huang, Yan; Lemire, Gabrielle; Briere, Lauren C; Liu, Fang; Wessels, Marja W; Wang, Xueqi; Osmond, Matthew; Kanca, Oguz; Lu, Shenzhao; High, Frances A; Walker, Melissa A; Rodan, Lance H; Kernohan, Kristin D; Sweetser, David A; Boycott, Kym M; Bellen, Hugo J

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

TMEM147基因的双等位基因功能缺失变异会导致中度至重度智力障碍,伴有面部畸形和假性佩尔格-于埃综合征。

Thomas, Quentin; Motta, Marialetizia; Gautier, Thierry; Zaki, Maha S; Ciolfi, Andrea; Paccaud, Julien; Girodon, François; Boespflug-Tanguy, Odile; Besnard, Thomas; Kerkhof, Jennifer; McConkey, Haley; Masson, Aymeric; Denommé-Pichon, Anne-Sophie; Cogné, Benjamin; Trochu, Eva; Vignard, Virginie; El It, Fatima; Rodan, Lance H; Alkhateeb, Mohammad Ayman; Jamra, Rami Abou; Duplomb, Laurence; Tisserant, Emilie; Duffourd, Yannis; Bruel, Ange-Line; Jackson, Adam; Banka, Siddharth; McEntagart, Meriel; Saggar, Anand; Gleeson, Joseph G; Sievert, David; Bae, Hyunwoo; Lee, Beom Hee; Kwon, Kisang; Seo, Go Hun; Lee, Hane; Saeed, Anjum; Anjum, Nadeem; Cheema, Huma; Alawbathani, Salem; Khan, Imran; Pinto-Basto, Jorge; Teoh, Joyce; Wong, Jasmine; Sahari, Umar Bin Mohamad; Houlden, Henry; Zhelcheska, Kristina; Pannetier, Melanie; Awad, Mona A; Lesieur-Sebellin, Marion; Barcia, Giulia; Amiel, Jeanne; Delanne, Julian; Philippe, Christophe; Faivre, Laurence; Odent, Sylvie; Bertoli-Avella, Aida; Thauvin, Christel; Sadikovic, Bekim; Reversade, Bruno; Maroofian, Reza; Govin, Jérôme; Tartaglia, Marco; Vitobello, Antonio

The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2

ClinGen脑畸形变异注释专家组:AKT3、MTOR、PIK3CA和PIK3R2体细胞变异规则

Lai, Abbe; Soucy, Aubrie; El Achkar, Christelle Moufawad; Barkovich, Anthony J; Cao, Yang; DiStefano, Marina; Evenson, Michael; Guerrini, Renzo; Knight, Devon; Lee, Yi-Shan; Mefford, Heather C; Miller, David T; Mirzaa, Ghayda; Mochida, Ganesh; Rodan, Lance H; Patel, Mayher; Smith, Lacey; Spencer, Sara; Walsh, Christopher A; Yang, Edward; Yuskaitis, Christopher J; Yu, Timothy; Poduri, Annapurna