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

Postnatal Brain Trajectories and Maternal Intelligence Predict Childhood Outcomes in Complex CHD

出生后大脑发育轨迹和母亲智力可预测复杂先天性心脏病患儿的儿童期结局

Lee, Vincent K; Ceschin, Rafael; Reynolds, William T; Meyers, Benjamin; Wallace, Julia; Landsittel, Douglas; Joseph, Heather M; Badaly, Daryaneh; Gaynor, J William; Licht, Daniel; Greene, Nathaniel H; Brady, Ken M; Hunter, Jill V; Chu, Zili D; Wilde, Elisabeth A; Easley, R Blaine; Andropoulos, Dean; Panigrahy, Ashok

Expanding the phenotype of PPP1R21-related neurodevelopmental disorder

扩展 PPP1R21 相关神经发育障碍的表型

Almannai, Mohammed; Marafi, Dana; Zaki, Maha S; Maroofian, Reza; Efthymiou, Stephanie; Saadi, Nebal Waill; Filimban, Bilal; Dafsari, Hormos Salimi; Rahman, Fatima; Maqbool, Shazia; Faqeih, Eissa; Al Mutairi, Fuad; Alsharhan, Hind; Abdelaty, Omar; Bin-Hasan, Saadoun; Duan, Ruizhi; Noureldeen, Mahmoud M; Alqattan, Alaa; Houlden, Henry; Hunter, Jill V; Posey, Jennifer E; Lupski, James R; El-Hattab, Ayman W

Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysis

临床外显子组测序揭示疑似缺氧缺血性脑病新生儿的遗传疾病:一项回顾性分析

Parobek, Christian M; Zemet, Roni; Shanahan, Matthew A; Burnett, Brian A; Mizerik, Elizabeth; Rosenfeld, Jill A; Vossaert, Liesbeth; Clark, Steven L; Hunter, Jill V; Lalani, Seema R

Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking

COG3基因的双等位基因错义变异会导致先天性糖基化障碍,并伴有逆行囊泡运输受损。

Duan, Ruizhi; Marafi, Dana; Xia, Zhi-Jie; Ng, Bobby G; Maroofian, Reza; Sumya, Farhana Taher; Saad, Ahmed K; Du, Haowei; Fatih, Jawid M; Hunter, Jill V; Elbendary, Hasnaa M; Baig, Shahid M; Abdullah, Uzma; Ali, Zafar; Efthymiou, Stephanie; Murphy, David; Mitani, Tadahiro; Withers, Marjorie A; Jhangiani, Shalini N; Coban-Akdemir, Zeynep; Calame, Daniel G; Pehlivan, Davut; Gibbs, Richard A; Posey, Jennifer E; Houlden, Henry; Lupashin, Vladimir V; Zaki, Maha S; Freeze, Hudson H; Lupski, James R

A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly

PPP1R35基因的双等位基因移码插入/缺失突变是原发性小头畸形的原因

Dawood, Moez; Akay, Gulsen; Mitani, Tadahiro; Marafi, Dana; Fatih, Jawid M; Gezdirici, Alper; Najmabadi, Hossein; Kahrizi, Kimia; Punetha, Jaya; Grochowski, Christopher M; Du, Haowei; Jolly, Angad; Li, He; Coban-Akdemir, Zeynep; Sedlazeck, Fritz J; Hunter, Jill V; Jhangiani, Shalini N; Muzny, Donna; Pehlivan, Davut; Posey, Jennifer E; Carvalho, Claudia M B; Gibbs, Richard A; Lupski, James R

Universal COVID-19 pre-procedural swabs in children in a developing country: A comparison of findings over two transmission waves

发展中国家儿童普遍接受术前新冠病毒拭子检测:两波疫情传播期间结果的比较

Marafi, Dana; Fatih, Jawid M; Kaiyrzhanov, Rauan; Ferla, Matteo P; Gijavanekar, Charul; Al-Maraghi, Aljazi; Liu, Ning; Sites, Emily; Alsaif, Hessa S; Al-Owain, Mohammad; Zakkariah, Mohamed; El-Anany, Ehab; Guliyeva, Ulviyya; Guliyeva, Sughra; Gaba, Colette; Haseeb, Ateeq; Alhashem, Amal M; Danish, Enam; Karageorgou, Vasiliki; Beetz, Christian; Subhi, Alaa A; Mullegama, Sureni V; Torti, Erin; Sebastin, Monisha; Breilyn, Margo Sheck; Duberstein, Susan; Abdel-Hamid, Mohamed S; Mitani, Tadahiro; Du, Haowei; Rosenfeld, Jill A; Jhangiani, Shalini N; Coban Akdemir, Zeynep; Gibbs, Richard A; Taylor, Jenny C; Fakhro, Khalid A; Hunter, Jill V; Pehlivan, Davut; Zaki, Maha S; Gleeson, Joseph G; Maroofian, Reza; Houlden, Henry; Posey, Jennifer E; Sutton, V Reid; Alkuraya, Fowzan S; Elsea, Sarah H; Lupski, James R; Tan, Chee Yang; Theseira, Amelia Marie; Ahmad Zubaidi, Syukri; Atiya, Nadia; Sanmugam, Anand; Singaravel, Srihari; Nah, Shireen Anne

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions

TCEAL1 功能丧失会导致 X 连锁显性遗传的神经发育综合征,并驱动 Xq22.2 缺失中的神经系统疾病特征。

Hijazi, Hadia; Reis, Linda M; Pehlivan, Davut; Bernstein, Jonathan A; Muriello, Michael; Syverson, Erin; Bonner, Devon; Estiar, Mehrdad A; Gan-Or, Ziv; Rouleau, Guy A; Lyulcheva, Ekaterina; Greenhalgh, Lynn; Tessarech, Marine; Colin, Estelle; Guichet, Agnès; Bonneau, Dominique; van Jaarsveld, R H; Lachmeijer, A M A; Ruaud, Lyse; Levy, Jonathan; Tabet, Anne-Claude; Ploski, Rafal; Rydzanicz, Małgorzata; Kępczyński, Łukasz; Połatyńska, Katarzyna; Li, Yidan; Fatih, Jawid M; Marafi, Dana; Rosenfeld, Jill A; Coban-Akdemir, Zeynep; Bi, Weimin; Gibbs, Richard A; Hobson, Grace M; Hunter, Jill V; Carvalho, Claudia M B; Posey, Jennifer E; Semina, Elena V; Lupski, James R

El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype

由双等位基因WDR45B致病变异引起的El-Hattab-Alkuraya综合征:表型和基因型的进一步阐明

Almannai, Mohammed; Marafi, Dana; Abdel-Salam, Ghada M H; Zaki, Maha S; Duan, Ruizhi; Calame, Daniel; Herman, Isabella; Levesque, Felix; Elbendary, Hasnaa M; Hegazy, Ibrahim; Chung, Wendy K; Kavus, Haluk; Saeidi, Kolsoum; Maroofian, Reza; AlHashim, Aqeela; Al-Otaibi, Ali; Al Madhi, Asma; Abou Al-Seood, Hager M; Alasmari, Ali; Houlden, Henry; Gleeson, Joseph G; Hunter, Jill V; Posey, Jennifer E; Lupski, James R; El-Hattab, Ayman W

Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

剪接调节因子NSRP1的双等位基因功能缺失变异会导致严重的神经发育障碍,包括痉挛性脑瘫和癫痫。

Calame, Daniel G; Bakhtiari, Somayeh; Logan, Rachel; Coban-Akdemir, Zeynep; Du, Haowei; Mitani, Tadahiro; Fatih, Jawid M; Hunter, Jill V; Herman, Isabella; Pehlivan, Davut; Jhangiani, Shalini N; Person, Richard; Schnur, Rhonda E; Jin, Sheng Chih; Bilguvar, Kaya; Posey, Jennifer E; Koh, Sookyong; Firouzabadi, Saghar G; Alehabib, Elham; Tafakhori, Abbas; Esmkhani, Sahra; Gibbs, Richard A; Noureldeen, Mahmoud M; Zaki, Maha S; Marafi, Dana; Darvish, Hossein; Kruer, Michael C; Lupski, James R