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

Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.

在自闭症谱系障碍患者中发现了KDM5A的单等位基因和双等位基因变异。

El Hayek Lauretta, Gogate Ashlesha, Chen Wei-Chen, Kaur Kiran, Zaki Maha S, De Wachter Matthias, Van Schil Kristof, Dublin-Ryan Leeran, Zamani Mina, Bartos Meghan N, Hiatt Susan M, Courdier Cécile, Michaud Vincent, Kenny Janna, Day Michael, Pang Lewis, Nasab Mahya Ebrahimi, Madani Manshadi Seyed Ali, Eslahi Atieh, Rasoul Masoomeh Ale, Sanchez-Mendoza Eduardo Humberto, DeLuca Charles, Marafi Dana, Stevens Servi J C, Ivanovski Ivan, Frey Tanja, Steindl Katharina, Rauch Anita, O'Connor Kaitlyn, Velinov Milen, Shen Xiaoming, Janssen Etienne J M, Sedighzadeh Sahar, Kordi-Tamandani Dor Mohammad, Khajeh Ali, Elshafie Reem M, Bastaki Laila, Misra Vinod K, Firoozfar Zahra, Goldenberg Paula C, Toosi Mehran Beiraghi, Mojarrad Majid, Kavanagh Karl, Koboldt Daniel C, Margot Henri, Hurst Anna C E, Weber Axel, Bergmann Carsten, Houlden Henry, Maroofian Reza, Weis Denisa, Ceulemans Berten, Chahrour Maria H

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

UGGT1 双等位基因变异会导致先天性糖基化障碍

Dardas Zain, Harrold Laura, Calame Daniel G, Salter Claire G, Kikuma Takashi, Guay Kevin P, Ng Bobby G, Sano Kanae, Saad Ahmad K, Du Haowei, Sangermano Riccardo, Patankar Sohil G, Jhangiani Shalini N, Gürsoy Semra, Abdel-Hamid Mohamed S, Ahmed Mahmoud K H, Maroofian Reza, Kaiyrzhanov Rauan, Salayev Kamran, Jones Wendy D, Pérez Caballero Ana, McGavin Lucy, Spiller Michael, Durkie Miranda, Wood Nick, O'Grady Lauren, Goldenberg Paula, Neumeyer Ann M, Begtrup Amber, Abdel-Ghafar Sherif F, Zaki Maha S, Van Esch Hilde, Posey Jennifer E, Wenger Olivia K, Scott Ethan M, Bujakowska Kinga M, Gibbs Richard A, Pehlivan Davut, Marafi Dana, Leslie Joseph S, Ubeyratna Nishanka, Day Jacob, Owens Martina, Settle Jessica, Balkhy Soher, Tamim Abdullah, Alabdi Lama, Alkuraya Fowzan S, Takeda Yoichi, Freeze Hudson H, Hebert Daniel N, Lupski James R, Crosby Andrew H, Baple Emma L

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

RHOBTB2相关神经发育障碍的基因型-表型相关性

Langhammer, Franziska; Maroofian, Reza; Badar, Rueda; Gregor, Anne; Rochman, Michelle; Ratliff, Jeffrey B; Koopmans, Marije; Herget, Theresia; Hempel, Maja; Kortüm, Fanny; Heron, Delphine; Mignot, Cyril; Keren, Boris; Brooks, Susan; Botti, Christina; Ben-Zeev, Bruria; Argilli, Emanuela; Sherr, Elliot H; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Bakhtiari, Somayeh; Kruer, Michael C; Salih, Mustafa A; Kuechler, Alma; Muller, Eric A; Blocker, Karli; Kuismin, Outi; Park, Kristen L; Kochhar, Aaina; Brown, Kathleen; Ramanathan, Subhadra; Clark, Robin D; Elgizouli, Magdeldin; Melikishvili, Gia; Tabatadze, Nazhi; Stark, Zornitza; Mirzaa, Ghayda M; Ong, Jinfon; Grasshoff, Ute; Bevot, Andrea; von Wintzingerode, Lydia; Jamra, Rami A; Hennig, Yvonne; Goldenberg, Paula; Al Alam, Chadi; Charif, Majida; Boulouiz, Redouane; Bellaoui, Mohammed; Amrani, Rim; Al Mutairi, Fuad; Tamim, Abdullah M; Abdulwahab, Firdous; Alkuraya, Fowzan S; Khouj, Ebtissal M; Alvi, Javeria R; Sultan, Tipu; Hashemi, Narges; Karimiani, Ehsan G; Ashrafzadeh, Farah; Imannezhad, Shima; Efthymiou, Stephanie; Houlden, Henry; Sticht, Heinrich; Zweier, Christiane

Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome

病例报告:FOXC1单倍体功能不全综合征临床和分子学表现谱的拓展

Garza Flores, Alexandra; Nordgren, Ida; Pettersson, Maria; Dias-Santagata, Dora; Nilsson, Daniel; Hammarsjö, Anna; Lindstrand, Anna; Batkovskyte, Dominyka; Wiggs, Janey; Walton, David S; Goldenberg, Paula; Eisfeldt, Jesper; Lin, Angela E; Lachman, Ralph S; Nishimura, Gen; Grigelioniene, Giedre

Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures

对PIGT缺陷的轻度表型进行深度表型分析,并将该基因与肌阵挛性失张力性癫痫联系起来

Bayat, Allan; Pendziwiat, Manuela; Obersztyn, Ewa; Goldenberg, Paula; Zacher, Pia; Döring, Jan Henje; Syrbe, Steffen; Begtrup, Amber; Borovikov, Artem; Sharkov, Artem; Karasińska, Aneta; Giżewska, Maria; Mitchell, Wendy; Morava, Eva; Møller, Rikke S; Rubboli, Guido

A Comprehensive Clinical Genetics Approach to Critical Congenital Heart Disease in Infancy

婴儿期危重先天性心脏病的综合临床遗传学方法

Shikany, Amy R; Landis, Benjamin J; Parrott, Ashley; Miller, Erin M; Coyan, Alyxis; Walters, Lauren; Hinton, Robert B; Goldenberg, Paula; Ware, Stephanie M

Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients

在RAS病患者中,非折返性房性心动过速的发生与肥厚型心肌病无关。

Levin, Mark D; Saitta, Sulagna C; Gripp, Karen W; Wenger, Tara L; Ganesh, Jaya; Kalish, Jennifer M; Epstein, Michael R; Smith, Rosemarie; Czosek, Richard J; Ware, Stephanie M; Goldenberg, Paula; Myers, Angela; Chatfield, Kathryn C; Gillespie, Matthew J; Zackai, Elaine H; Lin, Angela E

Cerebellar cognitive affective syndrome: insights from Joubert syndrome

小脑认知情感综合征:来自Joubert综合征的启示

Hickey, Chelsea L; Sherman, Janet C; Goldenberg, Paula; Kritzer, Amy; Caruso, Paul; Schmahmann, Jeremy D; Colvin, Mary K

Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and at-risk for psychosis

22q11.2缺失综合征青少年与精神分裂症患者及有精神病风险的青少年相比,其计算机化神经认知特征分析结果

Goldenberg, Paula C; Calkins, Monica E; Richard, Jan; McDonald-McGinn, Donna; Zackai, Elaine; Mitra, Nandita; Emanuel, Beverly; Devoto, Marcella; Borgmann-Winter, Karin; Kohler, Christian; Conroy, Catherine G; Gur, Ruben C; Gur, Raquel E

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

交叉反应性免疫物质状态会影响庞贝病患儿的治疗结果

Kishnani, Priya S; Goldenberg, Paula C; DeArmey, Stephanie L; Heller, James; Benjamin, Danny; Young, Sarah; Bali, Deeksha; Smith, Sue Ann; Li, Jennifer S; Mandel, Hanna; Koeberl, Dwight; Rosenberg, Amy; Chen, Y-T