Suchergebnisse - "Best, Sunayna"

PubPharm (21)

1

Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability

enthalten in: Journal of medical genetics | 2024

von Smith, C. | Laugel-Haushalter, V. | Hany, U. | +93

2

Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project : a reverse phenotyping approach

enthalten in: Journal of medical genetics | 2022

von Best, S. | Yu, J. | Lord, J. | +74

3

Drug and siRNA screens identify ROCK2 as a therapeutic target for ciliopathies

enthalten in: bioRxiv.org | 2022

von Lake, A. | Smith, C. | Natarajan, S. | +8

4

Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project

enthalten in: Journal of medical genetics | 2022

von Best, S. | Lord, J. | Roche, M. | +69

5

Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans

enthalten in: Human molecular genetics | 2022

von Lange, K. | Best, S. | Tsiropoulou, S. | +3

6

Unlocking the potential of the UK 100,000 Genomes Project-lessons learned from analysis of the "Congenital Malformations caused by Ciliopathies" cohort

enthalten in: American journal of medical genetics. Part C, Seminars in medical genetics | 2022

von Best, S. | Inglehearn, C. | Watson, C. | +3

CommentIn: Am J Med Genet A. 2022 Nov;188(11):3376-3377. - PMID 35861231

7

Unlocking the potential of the UK100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort

enthalten in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2022

von Best, S. | Inglehearn, C. | Watson, C. | +3

8

Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100 000 genomes project

enthalten in: Acta Ophthalmologica | 2022

von Best, S. | Lord, J. | Roche, M. | +10

9

Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in an animal model

enthalten in: bioRxiv.org | 2021

von Lange, K. | Best, S. | Tsiropoulou, S. | +3

10

Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia

enthalten in: The European respiratory journal | 2021

von Shoemark, A. | Rubbo, B. | Legendre, M. | +27

CommentIn: Eur Respir J. 2021 Aug 5;58(2):. - PMID 34353866