关注
Diane D. Shao
Diane D. Shao
Boston Children's Hospital
在 childrens.harvard.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
β-Catenin-driven cancers require a YAP1 transcriptional complex for survival and tumorigenesis
J Rosenbluh, D Nijhawan, AG Cox, X Li, JT Neal, EJ Schafer, TI Zack, ...
Cell 151 (7), 1457-1473, 2012
8182012
KRAS and YAP1 converge to regulate EMT and tumor survival
DD Shao, W Xue, EB Krall, A Bhutkar, F Piccioni, X Wang, AC Schinzel, ...
Cell 158 (1), 171-184, 2014
7422014
Pivotal Advance: Th-1 cytokines inhibit, and Th-2 cytokines promote fibrocyte differentiation
DD Shao, R Suresh, V Vakil, RH Gomer, D Pilling
Journal of Leucocyte Biology 83 (6), 1323-1333, 2008
3222008
ATARiS: computational quantification of gene suppression phenotypes from multisample RNAi screens
DD Shao, A Tsherniak, S Gopal, BA Weir, P Tamayo, N Stransky, ...
Genome research 23 (4), 665-678, 2013
1442013
Characterizing genomic alterations in cancer by complementary functional associations
JW Kim, OB Botvinnik, O Abudayyeh, C Birger, J Rosenbluh, Y Shrestha, ...
Nature biotechnology 34 (5), 539-546, 2016
1012016
Polymicrogyria is Associated With Pathogenic Variants in PTEN
DD Shao, CM Achkar, A Lai, S Srivastava, RN Doan, LH Rodan, AY Chen, ...
Annals of neurology 88 (6), 1153-1164, 2020
192020
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features
DD Shao, R Straussberg, H Ahmed, A Khan, S Tian, RS Hill, RS Smith, ...
Genetics in Medicine 23 (6), 1158-1162, 2021
182021
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis
X Qian, EM DeGennaro, M Talukdar, SK Akula, A Lai, DD Shao, ...
Developmental cell 57 (20), 2381-2396. e13, 2022
112022
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy
HY Koh, L Smith, KN Wiltrout, A Podury, N Chourasia, AM D’Gama, ...
JAMA network open 6 (7), e2324380-e2324380, 2023
102023
Exome sequencing and the identification of new genes and shared mechanisms in polymicrogyria
SK Akula, AY Chen, JE Neil, DD Shao, A Mo, NK Hylton, S DiTroia, ...
JAMA neurology 80 (9), 980-988, 2023
72023
Biallelic loss of EMC10 leads to mild to severe intellectual disability
R Kaiyrzhanov, C Rocca, M Suri, S Gulieva, MS Zaki, NZ Henig, K Siquier, ...
Annals of Clinical and Translational Neurology 9 (7), 1080-1089, 2022
42022
A recurrent de novo variant in NUSAP1 escapes nonsense‐mediated decay and leads to microcephaly, epilepsy, and developmental delay
A Mo, E Paz‐Ebstein, S Yanovsky‐Dagan, A Lai, H Mor‐Shaked, T Gilboa, ...
Clinical Genetics 104 (1), 73-80, 2023
32023
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
G Lemire, A Sanchis-Juan, K Russell, S Baxter, KR Chao, M Singer-Berk, ...
The American Journal of Human Genetics 111 (5), 863-876, 2024
12024
Knocking on opportunity's door
D Shao
Science 354 (6310), 382-382, 2016
12016
Tn5-Duplex-Sequencing (Tn5-Duplex-Seq) for low-input single-molecule variant detection
D Shao, N Hilal, S Choudhury
2024
Spatial Single-cell Analysis Decodes Cortical Layer and Area Specification
X Qian, K Coleman, S Jiang, AJ Kriz, JH Marciano, C Luo, C Cai, ...
bioRxiv, 2024.06. 05.597673, 2024
2024
High-resolution detection of copy number alterations in single cells with HiScanner
Y Zhao, LJ Luquette, AD Veit, X Wang, R Xi, VV Viswanadham, DD Shao, ...
bioRxiv, 2024.04. 26.587806, 2024
2024
P208: Insights into diagnostic yield and novel genetic etiologies for unilateral polymicrogyria
A Lai, J Neil, L Rodan, AM El Achkar, S Akula, A Barkovich, A Chen, ...
Genetics in Medicine Open 2, 2024
2024
Functional Investigation of Somatic Variants in Pediatric Epilepsy Using Single-Cell DNA/RNA Assays from Patient Derived Single Cells (P3-9.009)
D Cheng, MZ Chen, AY Huang, J Park, H Kirsch, C Walsh, D Shao
Neurology 100 (17 Supplement 2), 2023
2023
Expanding the Phenotypic Spectrum of FLNA from Ventricle to Cortex
D Shao, R Doan, A Lai, MH Chen, C Walsh
ANNALS OF NEUROLOGY 92, S166-S166, 2022
2022
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