Suchergebnisse - "D'Gama, Alissa M"

PubPharm (51)

1

Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions

enthalten in: NPJ genomic medicine | 2024

von AlMail, A. | Jamjoom, A. | Pan, A. | +21

2

Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit

enthalten in: Journal of perinatology : official journal of the California Perinatal Association | 2024

von D'Souza, E. | Findley, T. | Hu, R. | +8

3

Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology

enthalten in: Neurology. Genetics | 2024

von Phillips, H. | D'Gama, A. | Wang, Y. | +14

4

Implementation of rapid genomic sequencing in safety-net neonatal intensive care units : protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study

enthalten in: BMJ open | 2024

von D'Gama, A. | Hills, S. | Douglas, J. | +38

5

Genomic medicine in neonatal care : progress and challenges

enthalten in: European journal of human genetics : EJHG | 2023

von D'Gama, A. | Agrawal, P.

CommentIn: Eur J Hum Genet. 2023 Dec;31(12):1343. - PMID 38036686

6

Author Correction : The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing

enthalten in: Nature neuroscience | 2023

von Rodin, R. | Dou, Y. | Kwon, M. | +104

ErratumFor: Nat Neurosci. 2021 Feb;24(2):176-185. - PMID 33432195

7

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS) : an international, multicentre, pilot cohort study

enthalten in: The Lancet. Neurology | 2023

von D'Gama, A. | Mulhern, S. | Sheidley, B. | +37

CommentIn: Lancet Neurol. 2023 Sep;22(9):773-774. - PMID 37596000

8

Role of genomic medicine and implementing equitable access for critically ill infants in neonatal intensive care units

enthalten in: Journal of perinatology : official journal of the California Perinatal Association | 2023

von D'Gama, A. | Agrawal, P.

9

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

10

Brain somatic mosaicism in epilepsy : Bringing results back to the clinic

enthalten in: Neurobiology of disease | 2023

von D'Gama, A. | Poduri, A.

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