Sunayna Best

发表

Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality

Colin A. Johnson, E. Sheridan, M. Elpidorou, 2020, Journal of Medical Genetics.

Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.

Bethan E. Hoskins, P. Beales, D. Milford, 2017, Journal of the American Society of Nephrology : JASN.

Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

R. Pengelly, Sunayna Best, T. Cullup, 2018, Thorax.

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

S. Sisodiya, E. Baple, C. Inglehearn, 2022, Journal of Medical Genetics.

Fifteen years of genetic testing from a London developmental clinic

Sunayna Best, E. Rosser, M. Bajaj, 2017, Archives of Disease in Childhood.

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Jay F Rowland, M. Hurles, Soo-Mi Park, 2019, The Lancet.

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

Colin A. Johnson, O. Blacque, Sunayna Best, 2021, Human molecular genetics.

Promises, pitfalls and practicalities of prenatal whole exome sequencing

N. Vora, L. Chitty, R. Wapner, 2018, Prenatal diagnosis.

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management

Alison M. Male, S. Mansour, L. Chitty, 2018, Genetics in Medicine.

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

G. Carlsson, J. Brandsma, N. S. Thomas, 2021, European Respiratory Journal.

Pitfalls and Practicalities of Prenatal Whole Exome Sequencing Short title : Promises and Pitfalls of Prenatal Whole Exome Sequencing

N. Vora, I. V. D. Veyver, L. Chitty, 2017 .

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

Colin A. Johnson, O. Blacque, Sunayna Best, 2021, bioRxiv.

Clinical features and management of children with primary ciliary dyskinesia in England

Sunayna Best, A. Shoemark, C. Hogg, 2020, Archives of Disease in Childhood.

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

Colin A. Johnson, H. Brittain, C. Inglehearn, 2021, Journal of Medical Genetics.

The impact of fibroid characteristics on pregnancy outcome.

Sailesh Kumar, Sunayna Best, Sarah-Jane Lam, 2014, American journal of obstetrics and gynecology.

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

Colin A. Johnson, S. Grellscheid, J. Bond, 2020 .

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management

Alison M. Male, S. Mansour, L. Chitty, 2018, Genetics in Medicine.

Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

R. Pengelly, Sunayna Best, T. Cullup, 2018, Thorax.