Sian Ellard

University of Exeter — United Kingdom

Medicine · Health Sciences

118h-index54.5kcitations918works10.62yr avg
OpenAlex↗ORCID↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Pancreatic function and diabetes(414), Hyperglycemia and glycemic control in critically ill and hospitalized patients(227), Diabetes and associated disorders(209), Diabetes Management and Research(149), Metabolism, Diabetes, and Cancer(116)

Publications898 total

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
Genetics in Medicine·2025Open Access
2421P Sacituzumab Tirumotecan (sac-TMT) + Pembrolizumab (Pembro) in metastatic castration-resistant prostate cancer (mCRPC): Results from phase II MK-2870-002/SKB264-II-06 Study
Annals of Oncology·2025
Loss of ERG function causes lymphatic vessel malformations and primary lymphoedema
2025· 1 citedOpen Access
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria
Genetics in Medicine·2025· 30 citedOpen Access
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Annals of Neurology·2025· 2 citedOpen Access
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans
The American Journal of Human Genetics·2025· 5 citedOpen Access
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease
EMBO Molecular Medicine·2024· 3 citedOpen Access
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access
Journal of Medical Genetics·2024· 9 citedOpen Access
Exploring the benefits, harms and costs of genomic newborn screening for rare diseases
Nature Medicine·2024· 28 citedOpen Access
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
The American Journal of Human Genetics·2024· 28 citedOpen Access
Primate-specific ZNF808 is essential for pancreatic development in humans
Nature Genetics·2023· 45 citedOpen Access
Detailed Analysis of <scp><i>ITPR1</i></scp> Missense Variants Guides Diagnostics and Therapeutic Design
Movement Disorders·2023· 13 citedOpen Access
Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism
Yearbook of pediatric endocrinology·2023· 1 cited
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
The American Journal of Human Genetics·2023· 255 citedOpen Access
Variants in <i>CLDN5</i> cause a syndrome characterized by seizures, microcephaly and brain calcifications
Brain·2022· 28 citedOpen Access
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
The American Journal of Human Genetics·2022· 473 citedOpen Access
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis
The American Journal of Human Genetics·2022· 21 citedOpen Access
Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism
Nature Genetics·2022· 57 citedOpen Access
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of <i>KCNH5</i>
Neurology·2022· 21 citedOpen Access
Germline homozygous missense <i>DEPDC5</i> variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
Human Molecular Genetics·2022· 12 citedOpen Access
page 1 of 45Next →

Frequent Co-authors

Andrew T. Hattersley(37), Sarah E. Flanagan(16), Beverley M. Shields(9), Maggie Shepherd(9), Timothy M. Frayling(7), Hana Lango Allen(7), Ann‐Marie Patch(7), Emma L. Edghill(7), Kevin Colclough(7), Anna L. Gloyn(6), Ewan R. Pearson(6), Julian Hamilton‐Shield(6), Michael N. Weedon(5), Lorna W. Harries(5), Deborah Mackay(5), Richard Caswell(5), Elisa De Franco(5), Steven M. Harrison(5), I. Karen Temple(4), Timothy J. McDonald(4)