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

SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum

SUPT16H相关神经发育障碍和神经嵴病:遗传和表型谱

Eunhye Lee,Seungmin Sim,Hee-Jung Choi,Eugene Y Liang,Carolyn Le,Roya Bina,Ryan Cohen,Elizabeth George,Soo Yeon Kim,Gifty Bhat,Erin Falsey,Richard Sidlow,Kristin Clinard,Shay Ben-Shachar,Eleina England,Beatriz Menendez,Isabella Herman,Shelly Nielsen,Jaya Punetha,Priya Bhola,J Austin Hamm,Megan A Keeney,Nike Sitzman,Sara Berger,Lakshmi Mehta,Alison J Conn,Lilian Downie,Myla Ashfaq,Hope Northrup,Ange-Line Bruel,Sylvie Odent,Justin O Szot,Noelia Nunez Martinez,Sunju Park,Julie Refkin,Jean-Marc Good,Fabienne Maurer,Cédric Le Caignec,David J Coman,Erin Anderson,Linda J Richards,Ryan J Dean,Caleb Yang,Chulwon Choi,Byung Joon Hwang,Jin Sook Lee,William B Dobyns,Murim Choi,Elliott H Sherr,Jong-Hee Chae,Yun Kee,Emanuela Argilli

Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release

单等位基因新生 AJAP1 功能丧失变异破坏了神经递质释放的跨突触控制

Simon Früh, Sami Boudkkazi, Peter Koppensteiner, Vita Sereikaite, Li-Yuan Chen, Diego Fernandez-Fernandez, Pascal D Rem, Daniel Ulrich, Jochen Schwenk, Ziyang Chen, Elodie Le Monnier, Thorsten Fritzius, Sabrina M Innocenti, Valérie Besseyrias, Luca Trovò, Michal Stawarski, Emanuela Argilli, Elliott

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling

MYH10 中的杂合变异与神经发育障碍和先天性异常有关,有证据表明 Hedgehog 信号传导中存在原发性纤毛依赖性缺陷

Alexander M Holtz, Rachel VanCoillie, Elizabeth A Vansickle, Deanna Alexis Carere, Kara Withrow, Erin Torti, Jane Juusola, Francisca Millan, Richard Person, Maria J Guillen Sacoto, Yue Si, Ingrid M Wentzensen, Jada Pugh, Georgia Vasileiou, Melissa Rieger, André Reis, Emanuela Argilli, Elliott H Sher

Autism-associated biomarkers: test-retest reliability and relationship to quantitative social trait variation in rhesus monkeys

自闭症相关生物标志物:重测信度及其与恒河猴定量社会特征变异的关系

Ozge Oztan, Catherine F Talbot, Emanuela Argilli, Alyssa C Maness, Sierra M Simmons, Noreen Mohsin, Laura A Del Rosso, Joseph P Garner, Elliott H Sherr, John P Capitanio, Karen J Parker