Suchergebnisse - "Hafford-Tear, Nathaniel J"

PubPharm (9)

1

Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing

enthalten in: bioRxiv.org | 2024

von Taylor, A. | Barros, D. | Gobet, N. | +16

2

Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease

enthalten in: bioRxiv.org | 2024

von Bhattacharyya, N. | Chai, N. | Hafford-Tear, N. | +18

3

Repeat Detector : versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing

enthalten in: NAR genomics and bioinformatics | 2022

von Taylor, A. | Barros, D. | Gobet, N. | +17

4

Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy

enthalten in: Acta ophthalmologica | 2022

von Liskova, P. | Hafford-Tear, N. | Skalicka, P. | +6

5

TCF4-mediated Fuchs endothelial corneal dystrophy : Insights into a common trinucleotide repeat-associated disease

enthalten in: Progress in retinal and eye research | 2021

von Fautsch, M. | Wieben, E. | Baratz, K. | +5

6

CUGC for posterior polymorphous corneal dystrophy (PPCD)

enthalten in: European journal of human genetics : EJHG | 2020

von Davidson, A. | Hafford-Tear, N. | Dudakova, L. | +5

7

CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2019

von Hafford-Tear, N. | Tsai, Y. | Sadan, A. | +8

8

The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis

enthalten in: Experimental eye research | 2019

von Dudakova, L. | Evans, C. | Pontikos, N. | +14

9

Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity

enthalten in: American journal of human genetics | 2018

von Zarouchlioti, C. | Sanchez-Pintado, B. | Hafford Tear, N. | +15

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