Suchergebnisse - "Shao, Diane D"

PubPharm (24)

1

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

enthalten in: American journal of human genetics | 2024

von Lemire, G. | Sanchis-Juan, A. | Russell, K. | +61

UpdateOf: medRxiv. 2023 Oct 05;:. - PMID 37873196

2

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

enthalten in: bioRxiv.org | 2023

von Lemire, G. | Sanchis-Juan, A. | Russell, K. | +61

3

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

enthalten in: medRxiv : the preprint server for health sciences | 2023

von Lemire, G. | Sanchis-Juan, A. | Russell, K. | +61

UpdateIn: Am J Hum Genet. 2024 Mar 27;:. - PMID 38565148

4

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

5

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

6

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

7

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

8

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

9

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

10

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