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Sunayna K. Best

Observed names: Best SK, Best, Sunayna Kathleen, S. Best, Sunayna Best, Sunayna K Best
Observed institutions: University of London, University of Leeds, Imperial College Healthcare NHS Trust, St George's, University of London, Barts Health NHS Trust, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Royal Devon & Exeter NHS Foundation Trust, Royal Brompton & Harefield NHS Foundation Trust, Great Ormond Street Hospital, Great Ormond Street Hospital for Children NHS Foundation Trust, St George’s University Hospitals NHS Foundation Trust, Royal Devon and Exeter Hospital, St James's University Hospital, Harefield Hospital, Royal Brompton Hospital, Queen Charlotte's and Chelsea Hospital, Exeter Hospital, University College London, Imperial College London
ORCID: 0000-0002-8685-7800
Observed ORCID: 0000-0002-8685-7800
OpenAlex ID: A5050915362
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
2019 · Jenny Lord, Dominic J McMullan, et al. · The Lancet · 799
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Promises, pitfalls and practicalities of prenatal whole exome sequencing
2017 · Sunayna Best, Karen Wou, et al. · Prenatal Diagnosis · 387
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Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management
2018 · Natalie Chandler, Sunayna Best, et al. · Genetics in Medicine · 169
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Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
2019 · Lord J, McMullan DJ, et al. · Yearbook of pediatric endocrinology · 151
The impact of fibroid characteristics on pregnancy outcome
2014 · Sarah-Jane Lam, Sunayna Best, et al. · American Journal of Obstetrics and Gynecology · 121
Risk Factors for Severe Renal Disease in Bardet–Biedl Syndrome
2016 · Elizabeth Forsythe, Kathryn Sparks, et al. · Journal of the American Society of Nephrology · 120
Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia
2021 · Amelia Shoemark, Bruna Rubbo, et al. · European Respiratory Journal · 109
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Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia
2018 · Sunayna Best, Amelia Shoemark, et al. · Thorax · 87
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Clinical features and management of children with primary ciliary dyskinesia in England
2020 · Bruna Rubbo, Sunayna Best, et al. · Archives of Disease in Childhood · 52
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Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality
2020 · Marilena Elpidorou, Sunayna Best, et al. · Journal of Medical Genetics · 25
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project
2021 · Sunayna Best, Jenny Lord, et al. · Journal of Medical Genetics · 23
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Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)
2024 · Alice Garrett, Sophie Allen, et al. · Genetics in Medicine · 20
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Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) inCaenorhabditis elegans
2021 · Karen I Lange, Sunayna Best, et al. · Human Molecular Genetics · 19
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Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach
2022 · Sunayna Best, Jing Yu, et al. · Journal of Medical Genetics · 14
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Drug and siRNA screens identify ROCK2 as a therapeutic target for ciliopathies
2025 · Claire E. L. Smith, Andrew J. Streets, et al. · Communications Medicine · 12
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Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis
2025 · Manu Ahmed, Sydney Fischer, et al. · Nature Communications · 9
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability
2024 · Claire E L Smith, Virginie Laugel-Haushalter, et al. · Journal of Medical Genetics · 9
Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project
2024 · Verity Hartill, Mitra Kabir, et al. · European Journal of Human Genetics · 8
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Prenatal Exome Sequencing Analysis in Fetal Structural Anomalies Detected by Ultrasonography (PAGE): A Cohort Study
2019 · Jenny Lord, Dominic J. McMullan, et al. · Obstetrical & Gynecological Survey · 7
Rapid Prenatal Diagnosis Using Targeted Exome Sequencing: A Cohort Study to Assess Feasibility and Potential Impact on Prenatal Counseling and Pregnancy Management
2019 · Natalie Chandler, Sunayna Best, et al. · Obstetrical & Gynecological Survey · 7
Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the “Congenital Malformations caused by Ciliopathies” cohort
2022 · Sunayna Best, Chris F. Inglehearn, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 6
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Fifteen years of genetic testing from a London developmental clinic
2017 · Sunayna Best, Elisabeth Rosser, et al. · Archives of Disease in Childhood · 5
Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer
2025 · Sophie Allen, Charlie F. Rowlands, et al. · Genetics in Medicine · 3
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Topological Data Analysis Coupled with Machine Learning Reveals New Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia
2020 · B. Rubbo, A. Shoemark, et al. · American Journal of Respiratory and Critical Care Medicine · 1
Genetic risk factors for laterality defects and congenital heart disease (CHD) in patients with primary ciliary dyskinesia (PCD)
2017 · Claire Hogg, Sunayna Best, et al. · European Respiratory Journal · 1
Works count: 33
Citation count: 2,963
H-index: 14
I10-index: 16
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