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

Ash1l loss-of-function results in structural birth defects and altered cortical development

Ash1l功能缺失会导致结构性出生缺陷和皮层发育异常

Toolan, Kevin P; McGrath, Brian T; Brinkmeier, Michelle L; Camper, Sally A; Bielas, Stephanie L

CITK modulates BRCA1 recruitment at DNA double strand breaks sites through HDAC6.

CITK 通过 HDAC6 调节 BRCA1 在 DNA 双链断裂位点的募集

Iegiani Giorgia, Pallavicini Gianmarco, Pezzotta Alex, Brix Alessia, Ferraro Alessia, Gai Marta, Boda Enrica, Bielas Stephanie L, Pistocchi Anna, Di Cunto Ferdinando

Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population

从神经影像学到基因分型:描绘印度人群髓鞘形成缺陷疾病谱

Kaur, Namanpreet; do Rosario, Michelle C; Majethia, Purvi; Mascarenhas, Selinda; Rao, Lakshmi Priya; Nair, Karthik Vijay; Hunakunti, Bhagesh; Prasannakumar, Adarsh Pooradan; Naik, Rohit; Narayanan, Dhanya Lakshmi; Nayak, Shalini S; Bhat, Vivekananda; Sharma, Suvasini; Ramesh Bhat, Y; Yatheesha, B L; Kulkarni, Rajesh; Patil, Siddaramappa J; Nampoothiri, Sheela; Siddiqui, Shahyan; Girisha, Katta Mohan; Bielas, Stephanie; Shukla, Anju

RNF2 Missense Variants Disrupt Polycomb Repression and Enable Ectopic Mesenchymal Lineage Conversion During Human Neural Differentiation.

RNF2 错义变异破坏多梳蛋白抑制,并在人类神经分化过程中实现异位间充质谱系转化

Ryan Charles W, Regan Samantha L, Sheingold Jason B, Goswami Anupam, Mulhern Maureen, Ploeger Jonathan, Huang Samuel, Hartill Verity, Rippert Alyssa, Bhoj Elizabeth, Chung Wendy K, Bain Jennifer, Srivastava Kinshuk Raj, Bielas Stephanie L

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

双等位基因 EPB41L3 变异会导致一种发育障碍,伴有癫痫发作和髓鞘形成缺陷

Werren Elizabeth A, Rodriguez Bey Guillermo, Majethia Purvi, Kaur Parneet, Patil Siddaramappa J, Kekatpure Minal V, Afenjar Alexandra, Qebibo Leila, Burglen Lydie, Tomoum Hoda, Demurger Florence, Duborg Christele, Siddiqui Shahyan, Tsan Yao-Chang, Abdullah Uzma, Ali Zafar, Saadi Saadia Maryam, Baig Shahid Mahmood, Houlden Henry, Maroofian Reza, Padiath Quasar Saleem, Bielas Stephanie L, Shukla Anju

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India

印度神经发育队列中导致智力障碍的单基因综合征的新生变异

Pande, Shruti; Majethia, Purvi; Nair, Karthik; Rao, Lakshmi Priya; Mascarenhas, Selinda; Kaur, Namanpreet; do Rosario, Michelle C; Neethukrishna, Kausthubham; Chaurasia, Ankur; Hunakunti, Bhagesh; Jadhav, Nalesh; Xavier, Sruthy; Kumar, Jeevan; Bhat, Vivekananda; Bhavani, Gandham SriLakshmi; Narayanan, Dhanya Lakshmi; Yatheesha, B L; Patil, Siddaramappa J; Nampoothiri, Sheela; Kamath, Nutan; Aroor, Shrikiran; Bhat Y, Ramesh; Lewis, Leslie E; Sharma, Suvasini; Bajaj, Shruti; Sankhyan, Naveen; Siddiqui, Shahyan; Nayak, Shalini S; Bielas, Stephanie; Girisha, Katta Mohan; Shukla, Anju

Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications

印度142个家庭儿童期癫痫的遗传和表型特征:咨询和治疗意义

Majethia, Purvi; Kaur, Namanpreet; Mascarenhas, Selinda; Rao, Lakshmi Priya; Pande, Shruti; Narayanan, Dhanya Lakshmi; Bhat, Vivekananda; Nayak, Shalini S; Nair, Karthik Vijay; Prasannakumar, Adarsh Pooradan; Chaurasia, Ankur; Hunakunti, Bhagesh; Jadhav, Nalesh; Farooqui, Sheeba; Yeole, Mayuri; Kothiwale, Vishaka; Naik, Rohit; Bhat, Veena; Aroor, Shrikiran; Lewis, Leslie; Purkayastha, Jayashree; Bhat, Y Ramesh; Praveen, B K; Yatheesha, B L; Patil, Siddaramappa J; Nampoothiri, Sheela; Kamath, Nutan; Siddiqui, Shahyan; Bielas, Stephanie; Girisha, Katta Mohan; Sharma, Suvasini; Shukla, Anju

Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy

进一步验证颅缝早闭作为BCL11B相关BAF病表型谱的一部分

Pande, Shruti; Mascarenhas, Selinda; Venkatraman, Aishwarya; Bhat, Vivekananda; Narayanan, Dhanya Lakshmi; Siddiqui, Shahyan; Bielas, Stephanie; Girisha, Katta Mohan; Shukla, Anju

Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination

PIGH基因中的纯合变异p.(Arg163Trp)会导致糖基磷脂酰肌醇生物合成缺陷,进而引发癫痫性脑病和髓鞘形成延迟。

do Rosario, Michelle C; Kaur, Parneet; Girisha, Katta Mohan; Bielas, Stephanie; Shukla, Anju

Myofibrillar Structural Variability Underlies Contractile Function in Stem Cell-Derived Cardiomyocytes

肌原纤维结构变异是干细胞衍生心肌细胞收缩功能的基础

Ufford, Kathryn; Friedline, Sabrina; Tong, Zhaowen; Tang, Vi T; Dobbs, Amani S; Tsan, Yao-Chang; Bielas, Stephanie L; Liu, Allen P; Helms, Adam S