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

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

NTNG2基因的纯合错义变异(编码突触前Netrin-G2黏附蛋白)会导致一种独特的神经发育障碍。

Dias, Caroline M; Punetha, Jaya; Zheng, Céline; Mazaheri, Neda; Rad, Abolfazl; Efthymiou, Stephanie; Petersen, Andrea; Dehghani, Mohammadreza; Pehlivan, Davut; Partlow, Jennifer N; Posey, Jennifer E; Salpietro, Vincenzo; Gezdirici, Alper; Malamiri, Reza Azizi; Al Menabawy, Nihal M; Selim, Laila A; Vahidi Mehrjardi, Mohammad Yahya; Banu, Selina; Polla, Daniel L; Yang, Edward; Rezazadeh Varaghchi, Jamileh; Mitani, Tadahiro; van Beusekom, Ellen; Najafi, Maryam; Sedaghat, Alireza; Keller-Ramey, Jennifer; Durham, Leslie; Coban-Akdemir, Zeynep; Karaca, Ender; Orlova, Valeria; Schaeken, Lieke L M; Sherafat, Amir; Jhangiani, Shalini N; Stanley, Valentina; Shariati, Gholamreza; Galehdari, Hamid; Gleeson, Joseph G; Walsh, Christopher A; Lupski, James R; Seiradake, Elena; Houlden, Henry; van Bokhoven, Hans; Maroofian, Reza

Genomic and phenotypic delineation of congenital microcephaly

先天性小头畸形的基因组和表型特征

Shaheen, Ranad; Maddirevula, Sateesh; Ewida, Nour; Alsahli, Saud; Abdel-Salam, Ghada M H; Zaki, Maha S; Tala, Saeed Al; Alhashem, Amal; Softah, Ameen; Al-Owain, Mohammed; Alazami, Anas M; Abadel, Basma; Patel, Nisha; Al-Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Ibrahim, Niema; Hashem, Mais; Abdulwahab, Firdous; Hamad, Muddathir; Tabarki, Brahim; Alwadei, Ali H; Alhazzani, Fahad; Bashiri, Fahad A; Kentab, Amal; Şahintürk, Serdar; Sherr, Elliott; Fregeau, Brieana; Sogati, Samira; Alshahwan, Saad Ali M; Alkhalifi, Salwa; Alhumaidi, Zainab; Temtamy, Samia; Aglan, Mona; Otaify, Ghada; Girisha, Katta M; Tulbah, Maha; Seidahmed, Mohammed Zain; Salih, Mustafa A; Abouelhoda, Mohamed; Momin, Afaque A; Saffar, Muna Al; Partlow, Jennifer N; Arold, Stefan T; Faqeih, Eissa; Walsh, Christopher; Alkuraya, Fowzan S

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

INPP5K基因突变导致一种先天性肌营养不良症,该病与马里内斯科-舍格伦综合征和肌营养不良蛋白病重叠。

Osborn, Daniel P S; Pond, Heather L; Mazaheri, Neda; Dejardin, Jeremy; Munn, Christopher J; Mushref, Khaloob; Cauley, Edmund S; Moroni, Isabella; Pasanisi, Maria Barbara; Sellars, Elizabeth A; Hill, R Sean; Partlow, Jennifer N; Willaert, Rebecca K; Bharj, Jaipreet; Malamiri, Reza Azizi; Galehdari, Hamid; Shariati, Gholamreza; Maroofian, Reza; Mora, Marina; Swan, Laura E; Voit, Thomas; Conti, Francesco J; Jamshidi, Yalda; Manzini, M Chiara

Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.

丙氨酰-tRNA合成酶活性不足是导致进行性小头畸形、髓鞘形成不足和癫痫性脑病的常染色体隐性遗传综合征的根本原因

Nakayama Tojo, Wu Jiang, Galvin-Parton Patricia, Weiss Jody, Andriola Mary R, Hill R Sean, Vaughan Dylan J, El-Quessny Malak, Barry Brenda J, Partlow Jennifer N, Barkovich A James, Ling Jiqiang, Mochida Ganeshwaran H

Loss of PCLO function underlies pontocerebellar hypoplasia type III

PCLO功能丧失是III型脑桥小脑发育不全的根本原因。

Ahmed, Mustafa Y; Chioza, Barry A; Rajab, Anna; Schmitz-Abe, Klaus; Al-Khayat, Aisha; Al-Turki, Saeed; Baple, Emma L; Patton, Michael A; Al-Memar, Ali Y; Hurles, Matthew E; Partlow, Jennifer N; Hill, R Sean; Evrony, Gilad D; Servattalab, Sarah; Markianos, Kyriacos; Walsh, Christopher A; Crosby, Andrew H; Mochida, Ganeshwaran H

SLC25A22 is a novel gene for migrating partial seizures in infancy

SLC25A22 是婴儿期游走性部分性癫痫发作的一个新基因

Poduri, Annapurna; Heinzen, Erin L; Chitsazzadeh, Vida; Lasorsa, Francesco Massimo; Elhosary, P Christina; LaCoursiere, Christopher M; Martin, Emilie; Yuskaitis, Christopher J; Hill, Robert Sean; Atabay, Kutay Deniz; Barry, Brenda; Partlow, Jennifer N; Bashiri, Fahad A; Zeidan, Radwan M; Elmalik, Salah A; Kabiraj, Mohammad M U; Kothare, Sanjeev; Stödberg, Tommy; McTague, Amy; Kurian, Manju A; Scheffer, Ingrid E; Barkovich, A James; Palmieri, Ferdinando; Salih, Mustafa A; Walsh, Christopher A

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome

斑马鱼外显子组测序和功能验证表明,GTDC2 基因突变是沃克-瓦尔堡综合征的病因。

Manzini, M Chiara; Tambunan, Dimira E; Hill, R Sean; Yu, Tim W; Maynard, Thomas M; Heinzen, Erin L; Shianna, Kevin V; Stevens, Christine R; Partlow, Jennifer N; Barry, Brenda J; Rodriguez, Jacqueline; Gupta, Vandana A; Al-Qudah, Abdel-Karim; Eyaid, Wafaa M; Friedman, Jan M; Salih, Mustafa A; Clark, Robin; Moroni, Isabella; Mora, Marina; Beggs, Alan H; Gabriel, Stacey B; Walsh, Christopher A

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected].

NDE1 基因的人类突变会导致极度小头畸形伴无脑回畸形[已更正]

Alkuraya Fowzan S, Cai Xuyu, Emery Carina, Mochida Ganeshwaran H, Al-Dosari Mohammed S, Felie Jillian M, Hill R Sean, Barry Brenda J, Partlow Jennifer N, Gascon Generoso G, Kentab Amal, Jan Mohammad, Shaheen Ranad, Feng Yuanyi, Walsh Christopher A

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts

紧密连接蛋白JAM3的纯合突变会导致脑出血性破坏、室管膜下钙化和先天性白内障。

Mochida, Ganeshwaran H; Ganesh, Vijay S; Felie, Jillian M; Gleason, Danielle; Hill, R Sean; Clapham, Katie Rose; Rakiec, Daniel; Tan, Wen-Hann; Akawi, Nadia; Al-Saffar, Muna; Partlow, Jennifer N; Tinschert, Sigrid; Barkovich, A James; Ali, Bassam; Al-Gazali, Lihadh; Walsh, Christopher A

Identifying autism loci and genes by tracing recent shared ancestry

通过追踪近期共同祖先来识别自闭症基因位点和基因

Morrow, Eric M; Yoo, Seung-Yun; Flavell, Steven W; Kim, Tae-Kyung; Lin, Yingxi; Hill, Robert Sean; Mukaddes, Nahit M; Balkhy, Soher; Gascon, Generoso; Hashmi, Asif; Al-Saad, Samira; Ware, Janice; Joseph, Robert M; Greenblatt, Rachel; Gleason, Danielle; Ertelt, Julia A; Apse, Kira A; Bodell, Adria; Partlow, Jennifer N; Barry, Brenda; Yao, Hui; Markianos, Kyriacos; Ferland, Russell J; Greenberg, Michael E; Walsh, Christopher A