Suchergebnisse - "Shao, Diane D"

PubPharm (12)

1

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

enthalten in: JAMA neurology | 2023

von Akula, S. | Chen, A. | Neil, J. | +129

2

A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay

enthalten in: Clinical genetics | 2023

von Mo, A. | Paz-Ebstein, E. | Yanovsky-Dagan, S. | +7

3

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy

enthalten in: JAMA network open | 2023

von Koh, H. | Smith, L. | Wiltrout, K. | +61

4

Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis

enthalten in: Developmental cell | 2022

von Qian, X. | DeGennaro, E. | Talukdar, M. | +32

5

Biallelic loss of EMC10 leads to mild to severe intellectual disability

enthalten in: Annals of clinical and translational neurology | 2022

von Kaiyrzhanov, R. | Rocca, C. | Suri, M. | +22

6

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2021

von Shao, D. | Straussberg, R. | Ahmed, H. | +30

7

Polymicrogyria is Associated With Pathogenic Variants in PTEN

enthalten in: Annals of neurology | 2020

von Shao, D. | Achkar, C. | Lai, A. | +15

8

Characterizing genomic alterations in cancer by complementary functional associations

enthalten in: Nature biotechnology | 2016

von Kim, J. | Botvinnik, O. | Abudayyeh, O. | +32

9

KRAS and YAP1 converge to regulate EMT and tumor survival

enthalten in: Cell | 2014

von Shao, D. | Xue, W. | Krall, E. | +12

CommentIn: Cell. 2014 Jul 3;158(1):11-2. - PMID 24995973

10

ATARiS : computational quantification of gene suppression phenotypes from multisample RNAi screens

enthalten in: Genome research | 2013

von Shao, D. | Tsherniak, A. | Gopal, S. | +11