Sian Ellard

Also affiliated with Royal Devon & Exeter NHS Foundation Trust

MedicineBiochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

2in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

Papers

Driven by 24 papers. Top paper: “A Common Variant in the FTO Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity”.

A Common Variant in the FTO Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity

Science(2007)10.1126/science.1141634

N/A

18.0DataRank · unranked

4497 citations

Nicholas J. Timpson, Michael N. Weedon, Eleftheria Zeggini, Rachel M. Freathy, Cecilia M. Lindgren +36 more

Exploring the benefits, harms and costs of genomic newborn screening for rare diseases

Nature Medicine(2024)10.1038/s41591-024-03055-x

N/A

0.546DataRank · unranked

37 citations

Richard H. Scott, Siddharth Banka, James Buchanan, Louise Fish, Sarah Wynn +5 more

Analysis of large-scale sequencing cohorts does not support the role of variants inUCP2as a cause of hyperinsulinaemic hypoglycaemia

Human Mutation(2017)10.1002/humu.23289

N/A

0.449DataRank · unranked

19 citations

Michael N. Weedon, Richard Caswell, Khalid Hussain, Sian Ellard, Sarah E. Flanagan +1 more

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.01.007

N/A

0DataRank · unranked

52 citations

Klaudia Strucinska, Mikel Muñoz Oreja, Andrew Parrish, Richard Caswell, Karen Stals +24 more

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.003

N/A

0DataRank · unranked

48 citations

Tahsin Stefan Barakat, Brittany C. Michel, Nazar Mashtalir, Jennifer B. Phillips, Alfredo M. Valencia +48 more

Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome

Wellcome Open Research(2020)10.12688/wellcomeopenres.15465.2

N/A

0DataRank · unranked

11 citations

Senthil Senniappan, Thomas W. Laver, Richard Caswell, Martin Zenker, Klaus Mohnike +17 more

Update of variants identified in the pancreatic β-cell KATPchannel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

Yearbook of pediatric endocrinology(2020)10.1530/ey.17.2.11

N/A

0DataRank · unranked

1 citations

Cécile Saint‐Martin, Klaus Brusgaard, Knight Johnson, Lydia Aguilar‐Bryan, Pamela Bowman +15 more

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.10.05.318519

N/A

0DataRank · unranked

2 citations

Yohan Park, Saskia B. Wortmann, Adam C. Gunning, Suk‐young Lee, Lita Duraine +13 more

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.01.015

N/A

0DataRank · unranked

93 citations

Kaifang Pang, Andrea Ciolfi, Michael A. Levy, Andrés Hernández, Lucia Pedace +95 more

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

Genome Medicine(2021)10.1186/s13073-021-00873-3

N/A

0DataRank · unranked

32 citations

Yohan Park, Saskia B. Wortmann, Adam C. Gunning, Shlomit Ezer, Sukyeong Lee +15 more

Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.05.010

N/A

0DataRank · unranked

21 citations

Andrew C. Edmondson, Sandrine Duvet, Michael March, Ana Berta Sousa, Anna Lehman +23 more

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

Annals of Neurology(2021)10.1002/ana.26127

N/A

0DataRank · unranked

7 citations

Melanie T. Achleitner, Dietrich Trümbach, Laurence Hubert, Arnold Münnich, Barbara Ahlemeyer +26 more

Absence of islet autoantibodies and modestly raised glucose values at diabetes diagnosis should Lead to testing for MODY: lessons from a 5-year pediatric Swedish National Cohort study

Yearbook of pediatric endocrinology(2021)10.1530/ey.18.10.8

N/A

0DataRank · unranked

1 citations

Maggie Shepherd, Sian Ellard, Michael N. Weedon, Åke Lernmark, Gun Forsander +12 more

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.10.013

N/A

0DataRank · unranked

548 citations

Alicia B. Byrne, Bing Feng, Kymberleigh A. Pagel, Sean D. Mooney, Rachel Karchin +20 more

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.02.001

N/A

0DataRank · unranked

48 citations

Bogdan Polevoda, Kamel Awayda, Ning Tong, Jenna M. Lentini, Thomas Besnard +32 more

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

Neurology(2022)10.1212/wnl.0000000000201492

N/A

0DataRank · unranked

24 citations

Lynette G. Sadleir, Matthew Zemel, Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Allyn McConkie‐Rosell +50 more

Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes

Diabetologia(2022)10.1007/s00125-022-05697-3

N/A

0DataRank · unranked

3 citations

William Hagopian, Bart O. Roep, Kashyap A. Patel, Brittany Resnick, Rebecca Dobbs +8 more

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

medRxiv(2022)10.1101/2022.04.26.22274147

N/A

0DataRank · unranked

0 citations

Lynette G. Sadleir, Matthew Zemel, Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Allyn McConkie‐Rosell +49 more

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)10.1016/j.ajhg.2023.06.002

N/A

0DataRank · unranked

315 citations

Miguel de la Hoya, George A. R. Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T. Parsons +28 more

Primate-specific ZNF808 is essential for pancreatic development in humans

Nature Genetics(2023)10.1038/s41588-023-01565-x

N/A

0DataRank · unranked

49 citations

Nick Owens, Hossam Montaser, Matthew N. Wakeling, Jonna Saarimäki‐Vire, Athina Triantou +34 more

Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations

Genetics in Medicine(2024)10.1016/j.gim.2024.101213

N/A

0DataRank · unranked

16 citations

Vikas Pejaver, Timothy Bergquist, Leslie G. Biesecker, Alicia B. Byrne, Emily A.W. Nadeau +21 more

Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria

Genetics in Medicine(2025)10.1016/j.gim.2025.101402

N/A

0DataRank · unranked

45 citations

Sarah L. Stenton, Emily A.W. Nadeau, Alicia B. Byrne, Marc S. Greenblatt, Steven M. Harrison +20 more

Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.08.016

N/A

0DataRank · unranked

44 citations

Laeya A. Najmi, Amanda J. Bennett, Ingvild Aukrust, Jana K. Rundle, Kevin Colclough +13 more

Update of variants identified in the pancreatic β‐cell K ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

Human Mutation(2020)10.1002/humu.23995

N/A

0DataRank · unranked

175 citations

Cécile Saint‐Martin, Klaus Brusgaard, Amy E. Knight Johnson, Lydia Aguilar‐Bryan, Pamela Bowman +15 more