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

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.

PLCG1 的杂合变异会影响听力、视力、心脏和免疫功能

Ma Mengqi, Zheng Yiming, Deng Mingxi, Lu Shenzhao, Pan Xueyang, Luo Xi, Etoundi Michelle, Li-Kroeger David, Worley Kim C, Burrage Lindsay C, Blieden Lauren S, Allworth Aimee, Chen Wei-Liang, Merla Giuseppe, Mandriani Barbara, Otten Catherine E, Blanc Pierre, Rosenfeld Jill A, Dutta Debdeep, Yamamoto Shinya, Wangler Michael F, Glass Ian A, Chen Jingheng, Blue Elizabeth, Prontera Paolo, Rosain Jeremie, Marlin Sandrine, Lalani Seema R, Bellen Hugo J

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function

PLCG1基因的杂合变异会影响听力、视力、心脏和免疫功能。

Ma, Mengqi; Zheng, Yiming; Deng, Mingxi; Lu, Shenzhao; Pan, Xueyang; Luo, Xi; Etoundi, Michelle; Li-Kroeger, David; Worley, Kim C; Burrage, Lindsay C; Blieden, Lauren S; Allworth, Aimee; Chen, Wei-Liang; Merla, Giuseppe; Mandriani, Barbara; Otten, Catherine E; Blanc, Pierre; Rosenfeld, Jill A; Dutta, Debdeep; Yamamoto, Shinya; Wangler, Michael F; Glass, Ian A; Chen, Jingheng; Blue, Elizabeth; Prontera, Paolo; Rosain, Jeremie; Marlin, Sandrine; Lalani, Seema R; Bellen, Hugo J

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features

FRYL基因的新生突变与发育迟缓、智力障碍和面部畸形有关。

Pan, Xueyang; Tao, Alice M; Lu, Shenzhao; Ma, Mengqi; Hannan, Shabab B; Slaugh, Rachel; Drewes Williams, Sarah; O'Grady, Lauren; Kanca, Oguz; Person, Richard; Carter, Melissa T; Platzer, Konrad; Schnabel, Franziska; Abou Jamra, Rami; Roberts, Amy E; Newburger, Jane W; Revah-Politi, Anya; Granadillo, Jorge L; Stegmann, Alexander P A; Sinnema, Margje; Accogli, Andrea; Salpietro, Vincenzo; Capra, Valeria; Ghaloul-Gonzalez, Lina; Brueckner, Martina; Simon, Marleen E H; Sweetser, David A; Glinton, Kevin E; Kirk, Susan E; Wangler, Michael F; Yamamoto, Shinya; Chung, Wendy K; Bellen, Hugo J

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

脑病相关UBA5变异体的等位基因强度在体内和体外试验中呈正相关

Pan, Xueyang; Alvarez, Albert N; Ma, Mengqi; Lu, Shenzhao; Crawford, Michael W; Briere, Lauren C; Kanca, Oguz; Yamamoto, Shinya; Sweetser, David A; Wilson, Jenny L; Napier, Ruth J; Pruneda, Jonathan N; Bellen, Hugo J

Sphingolipids in neurodegenerative diseases

神经退行性疾病中的鞘脂

Pan, Xueyang; Dutta, Debdeep; Lu, Shenzhao; Bellen, Hugo J

'Fly-ing' from rare to common neurodegenerative disease mechanisms

从罕见到常见神经退行性疾病机制的“飞跃”

Ma, Mengqi; Moulton, Matthew J; Lu, Shenzhao; Bellen, Hugo J

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

De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement

FRMD5基因的新生突变与发育迟缓、智力障碍、共济失调和眼球运动异常有关。

Lu, Shenzhao; Ma, Mengqi; Mao, Xiao; Bacino, Carlos A; Jankovic, Joseph; Sutton, V Reid; Bartley, James A; Wang, Xueying; Rosenfeld, Jill A; Beleza-Meireles, Ana; Chauhan, Jaynee; Pan, Xueyang; Li, Megan; Liu, Pengfei; Prescott, Katrina; Amin, Sam; Davies, George; Wangler, Michael F; Dai, Yuwei; Bellen, Hugo J

Finding the 'Guilty' Gene Variant of Sporadic Parkinson's Disease Via CRISPR/Cas9

利用 CRISPR/Cas9 技术寻找散发性帕金森病的“致病”基因变异

Lu, Shenzhao; Zhou, Jiawei