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

Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder

常染色体显性遗传性HK1相关神经发育障碍伴视觉缺陷和脑部异常(NEDVIBA):一种新出现的线粒体疾病

Ng, Bobby G; Eklund, Erik A; Rosenfeld, Jill A; Elias, Abdallah F; Abu-El-Haija, Aya; Bris, Celine; Barth, Magalie; Chae, Jong-Hee; Choi, Murim; Dubbs, Holly A; Fratter, Carl; Foulds, Nicola; Gamble, Candace; Gavrilova, Ralitza H; Haven, Jaclyn; Hoffman, Trevor L; Hunter, Jill V; Larson, Austin; Lotze, Timothy Edward; Magoulas, Pilar; Magness, Emily C; Bootin, Debra M; Marsh, Eric D; Nesbitt, Victoria; Pastore, Matthew T; Poulton, Joanna; Rahman, Shamima; Scaglia, Fernando; Murali, Chaya; Posey, Jennifer; Rotenberg, Joshua; Schmalz, Betsy; Shinde, Deepali N; Powis, Zöe; Sukenik-Halevy, Rivka; Truxal, Kristen V; Uster, Tami; Machado Bressan Wilke, Matheus Vernet; Klee, Erik; Woo, Hyewon; Younkin, Donald; Zhao, Jianhua; Granadillo, Jorge; Lalani, Seema; Chitayat, David; Chung, Wendy K; Freeze, Hudson H; Okur, Volkan

Diagnostic testing laboratories are valuable partners for disease gene discovery: 5-year experience with GeneMatcher

诊断检测实验室是疾病基因发现的重要合作伙伴:GeneMatcher 五年经验

Towne, Meghan C; Rossi, Mari; Wayburn, Bess; Huang, Jennifer M; Radtke, Kelly; Alcaraz, Wendy; Farwell Hagman, Kelly D; Shinde, Deepali N

Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability

人类KCNQ5基因的新生突变是癫痫和智力障碍的根本原因。

Wei, Aguan D; Wakenight, Paul; Zwingman, Theresa A; Bard, Angela M; Sahai, Nikhil; Willemsen, Marjolein H; Schelhaas, Helenius J; Stegmann, Alexander P A; Verhoeven, Judith S; de Man, Stella A; Wessels, Marja W; Kleefstra, Tjitske; Shinde, Deepali N; Helbig, Katherine L; Basinger, Alice; Wagner, Victoria F; Rodriguez-Buritica, David; Bryant, Emily; Millichap, John J; Millen, Kathleen J; Dobyns, William B; Ramirez, Jan-Marino; Kalume, Franck K

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

SPEN单倍体不足会导致一种神经发育障碍,该障碍与近端1p36缺失综合征重叠,并在女性中伴有X染色体表观遗传特征。

Radio, Francesca Clementina; Pang, Kaifang; Ciolfi, Andrea; Levy, Michael A; Hernández-García, Andrés; Pedace, Lucia; Pantaleoni, Francesca; Liu, Zhandong; de Boer, Elke; Jackson, Adam; Bruselles, Alessandro; McConkey, Haley; Stellacci, Emilia; Lo Cicero, Stefania; Motta, Marialetizia; Carrozzo, Rosalba; Dentici, Maria Lisa; McWalter, Kirsty; Desai, Megha; Monaghan, Kristin G; Telegrafi, Aida; Philippe, Christophe; Vitobello, Antonio; Au, Margaret; Grand, Katheryn; Sanchez-Lara, Pedro A; Baez, Joanne; Lindstrom, Kristin; Kulch, Peggy; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Roadhouse, Chelsea; MacKenzie, Jennifer J; Monteleone, Berrin; Saunders, Carol J; Jean Cuevas, July K; Cross, Laura; Zhou, Dihong; Hartley, Taila; Sawyer, Sarah L; Monteiro, Fabíola Paoli; Secches, Tania Vertemati; Kok, Fernando; Schultz-Rogers, Laura E; Macke, Erica L; Morava, Eva; Klee, Eric W; Kemppainen, Jennifer; Iascone, Maria; Selicorni, Angelo; Tenconi, Romano; Amor, David J; Pais, Lynn; Gallacher, Lyndon; Turnpenny, Peter D; Stals, Karen; Ellard, Sian; Cabet, Sara; Lesca, Gaetan; Pascal, Joset; Steindl, Katharina; Ravid, Sarit; Weiss, Karin; Castle, Alison M R; Carter, Melissa T; Kalsner, Louisa; de Vries, Bert B A; van Bon, Bregje W; Wevers, Marijke R; Pfundt, Rolph; Stegmann, Alexander P A; Kerr, Bronwyn; Kingston, Helen M; Chandler, Kate E; Sheehan, Willow; Elias, Abdallah F; Shinde, Deepali N; Towne, Meghan C; Robin, Nathaniel H; Goodloe, Dana; Vanderver, Adeline; Sherbini, Omar; Bluske, Krista; Hagelstrom, R Tanner; Zanus, Caterina; Faletra, Flavio; Musante, Luciana; Kurtz-Nelson, Evangeline C; Earl, Rachel K; Anderlid, Britt-Marie; Morin, Gilles; van Slegtenhorst, Marjon; Diderich, Karin E M; Brooks, Alice S; Gribnau, Joost; Boers, Ruben G; Finestra, Teresa Robert; Carter, Lauren B; Rauch, Anita; Gasparini, Paolo; Boycott, Kym M; Barakat, Tahsin Stefan; Graham, John M Jr; Faivre, Laurence; Banka, Siddharth; Wang, Tianyun; Eichler, Evan E; Priolo, Manuela; Dallapiccola, Bruno; Vissers, Lisenka E L M; Sadikovic, Bekim; Scott, Daryl A; Holder, Jimmy Lloyd Jr; Tartaglia, Marco

Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

BPTF相关神经发育障碍的表型扩展,表现为面部畸形和远端肢体异常

Glinton, Kevin E; Hurst, Anna C E; Bowling, Kevin M; Cristian, Ingrid; Haynes, Devon; Adstamongkonkul, Dusit; Schnappauf, Oskar; Beck, David B; Brewer, Carole; Parikh, Aditi Shah; Shinde, Deepali N; Donaldson, Alan; Brautbar, Ariel; Koene, Saskia; van Haeringen, Arie; Piton, Amélie; Capri, Yline; Furlan, Margherita; Gardella, Elena; Møller, Rikke Steensbjerre; van de Beek, Irma; Zuurbier, Linda; Lakeman, Phillis; Bayat, Allan; Martinez, Julian; Signer, Rebecca; Torring, Pernille M; Engelund, Morten Buch; Gripp, Karen W; Amlie-Wolf, Louise; Henderson, Lindsay B; Midro, Alina T; Tarasów, Eugeniusz; Stasiewicz-Jarocka, Beata; Moskal-Jasinska, Diana; Vos, Paul; Boschann, Felix; Stoltenburg, Corinna; Puk, Oliver; Mero, Inger-Lise; Lossius, Kristine; Mignot, Cyril; Keren, Boris; Acosta Guio, Johanna C; Briceño, Ignacio; Gomez, Alberto; Yang, Yaping; Stankiewicz, Pawel

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

第二组 CHD3 患者进一步拓展了已知的导致 Snijders-Blok-Campeau 综合征的分子机制。

Drivas, Theodore G; Li, Dong; Nair, Divya; Alaimo, Joseph T; Alders, Mariëlle; Altmüller, Janine; Barakat, Tahsin Stefan; Bebin, E Martina; Bertsch, Nicole L; Blackburn, Patrick R; Blesson, Alyssa; Bouman, Arjan M; Brockmann, Knut; Brunelle, Perrine; Burmeister, Margit; Cooper, Gregory M; Denecke, Jonas; Dieux-Coëslier, Anne; Dubbs, Holly; Ferrer, Alejandro; Gal, Danna; Bartik, Lauren E; Gunderson, Lauren B; Hasadsri, Linda; Jain, Mahim; Karimov, Catherine; Keena, Beth; Klee, Eric W; Kloth, Katja; Lace, Baiba; Macchiaiolo, Marina; Marcadier, Julien L; Milunsky, Jeff M; Napier, Melanie P; Ortiz-Gonzalez, Xilma R; Pichurin, Pavel N; Pinner, Jason; Powis, Zoe; Prasad, Chitra; Radio, Francesca Clementina; Rasmussen, Kristen J; Renaud, Deborah L; Rush, Eric T; Saunders, Carol; Selcen, Duygu; Seman, Ann R; Shinde, Deepali N; Smith, Erica D; Smol, Thomas; Snijders Blok, Lot; Stoler, Joan M; Tang, Sha; Tartaglia, Marco; Thompson, Michelle L; van de Kamp, Jiddeke M; Wang, Jingmin; Weise, Dagmar; Weiss, Karin; Woitschach, Rixa; Wollnik, Bernd; Yan, Huifang; Zackai, Elaine H; Zampino, Giuseppe; Campeau, Philippe; Bhoj, Elizabeth

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

AP2M1基因中一种复发性错义变异会损害网格蛋白介导的内吞作用,并导致发育性和癫痫性脑病。

Ingo Helbig ,Tania Lopez-Hernandez ,Oded Shor ,Peter Galer ,Shiva Ganesan ,Manuela Pendziwiat ,Annika Rademacher ,Colin A Ellis ,Nadja Hümpfer ,Niklas Schwarz ,Simone Seiffert ,Joseph Peeden ,Joseph Shen ,Katalin Štěrbová ,Trine Bjørg Hammer ,Rikke S Møller ,Deepali N Shinde ,Sha Tang ,Lacey Smith ,Annapurna Poduri ,Roland Krause ,Felix Benninger ,Katherine L Helbig ,Volker Haucke ,Yvonne G Weber

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

MAPK8IP3基因的新生突变导致智力障碍并伴有不同程度的脑部异常

Platzer, Konrad; Sticht, Heinrich; Edwards, Stacey L; Allen, William; Angione, Kaitlin M; Bonati, Maria T; Brasington, Campbell; Cho, Megan T; Demmer, Laurie A; Falik-Zaccai, Tzipora; Gamble, Candace N; Hellenbroich, Yorck; Iascone, Maria; Kok, Fernando; Mahida, Sonal; Mandel, Hanna; Marquardt, Thorsten; McWalter, Kirsty; Panis, Bianca; Pepler, Alexander; Pinz, Hailey; Ramos, Luiza; Shinde, Deepali N; Smith-Hicks, Constance; Stegmann, Alexander P A; Stöbe, Petra; Stumpel, Constance T R M; Wilson, Carolyn; Lemke, Johannes R; Di Donato, Nataliya; Miller, Kenneth G; Jamra, Rami

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

破坏 POU3F3 转录激活能力的新生变异会导致一种特征性的神经发育障碍

Snijders Blok, Lot; Kleefstra, Tjitske; Venselaar, Hanka; Maas, Saskia; Kroes, Hester Y; Lachmeijer, Augusta M A; van Gassen, Koen L I; Firth, Helen V; Tomkins, Susan; Bodek, Simon; Õunap, Katrin; Wojcik, Monica H; Cunniff, Christopher; Bergstrom, Katherine; Powis, Zoë; Tang, Sha; Shinde, Deepali N; Au, Catherine; Iglesias, Alejandro D; Izumi, Kosuke; Leonard, Jacqueline; Abou Tayoun, Ahmad; Baker, Samuel W; Tartaglia, Marco; Niceta, Marcello; Dentici, Maria Lisa; Okamoto, Nobuhiko; Miyake, Noriko; Matsumoto, Naomichi; Vitobello, Antonio; Faivre, Laurence; Philippe, Christophe; Gilissen, Christian; Wiel, Laurens; Pfundt, Rolph; Deriziotis, Pelagia; Brunner, Han G; Fisher, Simon E

A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses

对诊断性外显子组测序的多项发现进行回顾性分析:一半是不同的诊断,一半是重叠的诊断

Smith, Erica D; Blanco, Kirsten; Sajan, Samin A; Hunter, Jesse M; Shinde, Deepali N; Wayburn, Bess; Rossi, Mari; Huang, Jennifer; Stevens, Cathy A; Muss, Candace; Alcaraz, Wendy; Hagman, Kelly D Farwell; Tang, Sha; Radtke, Kelly