Europe PMC requires Javascript to function effectively.

Either your web browser doesn't support Javascript or it is currently turned off. In the latter case, please turn on Javascript support in your web browser and reload this page.

Search life-sciences literature (45,100,050 articles, preprints and more)

Suggested authors matching "AUTH:Ellard S" with an ORCID

Sian Ellard
Royal Devon and Exeter NHS Foundation Trust
477
Publications
26,438
Citations
View profile
Susan Ellard
No affiliation detected
43
Publications
7,614
Citations
View profile

Search results

1-25 of 711 results

Sort by:

Relevance ^{Relevance: This is determined based on a ranking of criteria including term frequency, rarity of term, recency of article, whether there is a Title or Author field match, etc.}

Times cited

Date

1 2 3 Next ...

Randomized Phase II Study of Durvalumab with or without Tremelimumab in Patients with Metastatic Castration Resistant Prostate Cancer.
Winquist E, Hotte SJ, Chi K, Sridhar S, Ellard S, Ong M, Iqbal N, Salim M, Emmenegger U, Gingerich JR, Lalani AK, Major P, Kollmannsberger C, Yip S, Hansen A, Finch D, Canil C, Hutchenreuther J, Vera-Badillo F, [...] Seymour L
Clin Cancer Res, 08 Nov 2024
Cited by: 0 articles | PMID: 39513948
Add to export list
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).
Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, Rowlands CF, McVeigh T, Hanson H, Turnbull C, CanVIG-UK
Genet Med, 101305, 24 Oct 2024
Cited by: 0 articles | PMID: 39489894
Add to export list
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access.
Ellard S, Morgan S, Wynn SL, Walker S, Parrish A, Mein R, Juett A, Ahn JW, Berry I, Cassidy EJ, Durkie M, Fish L, Hall R, Howard E, Rankin J, Wright CF, Deans ZC, Scott RH, Hill SL, [...] Association for Clinical Genomic Science Rare Disease Position Statement Working Group
J Med Genet, jmg-2024-110228, 07 Oct 2024
Cited by: 0 articles | PMID: 39327040
Add to export list
Final analysis of the ALTTO trial: adjuvant trastuzumab in sequence or in combination with lapatinib in patients with HER2-positive early breast cancer [BIG 2-06/NCCTG N063D (Alliance)].
de Azambuja E, Piccart-Gebhart M, Fielding S, Townend J, Hillman DW, Colleoni M, Roylance R, Kelly CM, Lombard J, El-Abed S, Choudhury A, Korde L, Vicente M, Chumsri S, Rodeheffer R, Ellard SL, Wolff AC, Holtschmidt J, Lang I, [...] Moreno-Aspitia A
ESMO Open, 9(11):103938, 16 Oct 2024
Cited by: 0 articles | PMID: 39418883 | PMCID: PMC11532431
Add to export list
This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
Free full text in Europe PMC
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.
Rowlands CF, Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, McVeigh TP, Hanson H, Whiffin N, Jones M, Turnbull C, CanVIG-UK
J Med Genet, 61(10):983-991, 24 Sep 2024
Cited by: 0 articles | PMID: 39227160 | PMCID: PMC11503184
Add to export list
This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
Free full text in Europe PMC
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.
Stenton SL, Pejaver V, Bergquist T, Biesecker LG, Byrne AB, Nadeau EAW, Greenblatt MS, Harrison SM, Tavtigian SV, Radivojac P, Brenner SE, O'Donnell-Luria A, ClinGen Sequence Variant Interpretation Working Group
Genet Med, 26(11):101213, 25 Jul 2024
Cited by: 2 articles | PMID: 39030733
Add to export list
Exploring the benefits, harms and costs of genomic newborn screening for rare diseases.
Baple EL, Scott RH, Banka S, Buchanan J, Fish L, Wynn S, Wilkinson D, Ellard S, MacArthur DG, Stark Z
Nat Med, 30(7):1823-1825, 01 Jul 2024
Cited by: 2 articles | PMID: 38898121
Add to export list
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Pagnamenta AT, Yu J, Walker S, Noble AJ, Lord J, Dutta P, Hashim M, Camps C, Green H, Devaiah S, Nashef L, Parr J, Fratter C, Ibnouf Hussein R, Lindsay SJ, Lalloo F, Banos-Pinero B, Evans D, Mallin L, [...] Taylor JC
Am J Hum Genet, 111(6):1140-1164, 21 May 2024
Cited by: 1 article | PMID: 38776926 | PMCID: PMC11179413
Add to export list
This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
Free full text in Europe PMC
De novo variants in KCNA3 cause developmental and epileptic encephalopathy.
Soldovieri MV, Ambrosino P, Mosca I, Servettini I, Pietrunti F, Belperio G, KCNA3 study group, Syrbe S, Taglialatela M, Lemke JR
Ann Neurol, 95(2):365-376, 28 Dec 2023
Cited by: 2 articles | PMID: 37964487
Add to export list
The impact of erythropoiesis-stimulating agents administration concomitantly with adjuvant anti-HER2 treatments on the outcomes of patients with early breast cancer: a sub-analysis of the ALTTO study.
Martins-Branco D, Kassapian M, Debien V, Caparica R, Eiger D, Dafni U, Andriakopoulou C, El-Abed S, Ellard SL, Izquierdo M, Vicente M, Chumsri S, Piccart-Gebhart M, Moreno-Aspitia A, Knop AS, Lombard J, de Azambuja E
Breast Cancer Res Treat, 203(3):497-509, 08 Nov 2023
Cited by: 0 articles | PMID: 37938495
Add to export list
Primate-specific ZNF808 is essential for pancreatic development in humans.
De Franco E, Owens NDL, Montaser H, Wakeling MN, Saarimäki-Vire J, Triantou A, Ibrahim H, Balboa D, Caswell RC, Jennings RE, Kvist JA, Johnson MB, Muralidharan S, Ellard S, Wright CF, Maddirevula S, Alkuraya FS, Pancreatic Agenesis Gene Discovery Consortium, Hanley NA, [...] Imbeault M
Nat Genet, 55(12):2075-2081, 16 Nov 2023
Cited by: 9 articles | PMID: 37973953 | PMCID: PMC10703691
Add to export list
This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
Free full text in Europe PMC
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen JP, Parolin Schnekenberg R, McGowan S, Sims D, McEntagart M, Elmslie F, Shears D, Stewart H, Tofaris GK, Dabir T, Morrison PJ, Johnson D, Hadjivassiliou M, Ellard S, Shaw-Smith C, Znaczko A, Dixit A, Suri M, Sarkar A, [...] Németh AH
Mov Disord, 39(1):141-151, 14 Nov 2023
Cited by: 2 articles | PMID: 37964426 | PMCID: PMC10952845
Add to export list
This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
Free full text in Europe PMC
Antitumor Activity and Safety of Dostarlimab Monotherapy in Patients With Mismatch Repair Deficient Solid Tumors: A Nonrandomized Controlled Trial.
André T, Berton D, Curigliano G, Sabatier R, Tinker AV, Oaknin A, Ellard S, de Braud F, Arkenau HT, Trigo J, Gravina A, Kristeleit R, Moreno V, Abdeddaim C, Vano YA, Samouëlian V, Miller R, Boni V, Torres AA, [...] Banerjee S
JAMA Netw Open, 6(11):e2341165, 01 Nov 2023
Cited by: 10 articles | PMID: 37917058 | PMCID: PMC10623195
Add to export list
This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
Free full text in Europe PMC
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
Walker LC, Hoya M, Wiggins GAR, Lindy A, Vincent LM, Parsons MT, Canson DM, Bis-Brewer D, Cass A, Tchourbanov A, Zimmermann H, Byrne AB, Pesaran T, Karam R, Harrison SM, Spurdle AB, ClinGen Sequence Variant Interpretation Working Group
Am J Hum Genet, 110(7):1046-1067, 22 Jun 2023
Cited by: 51 articles | PMID: 37352859 | PMCID: PMC10357475
Add to export list Free full text in Europe PMC
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Deshwar AR, Cytrynbaum C, Murthy H, Zon J, Chitayat D, Volpatti J, Newbury-Ecob R, Ellard S, Allen HL, Yu EP, Noche R, Walker S, Scherer SW, Mahida S, Elitt CM, Nicolas G, Goldenberg A, Saugier-Veber P, Lecoquierre F, [...] Weksberg R
Brain, 146(6):2285-2297, 01 Jun 2023
Cited by: 7 articles | PMID: 36477332
Add to export list
A perspective on in person scientific meetings.
Lefresne S, Brown M, Ellard S, Duncan G, Rose J, Darud M, Caon J, Lund C, Mariano C
Radiother Oncol, 184:109691, 06 May 2023
Cited by: 0 articles | PMID: 37150448 | PMCID: PMC10162852
Add to export list
This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
Free full text in Europe PMC
Symptom-specific effects of counselling for depression compared to cognitive-behavioural therapy.
O'Driscoll C, Buckman JEJ, Saunders R, Ellard S, Naqvi SA, Singh S, Wheatley J, Pilling S
BMJ Ment Health, 26(1):e300621, 01 Feb 2023
Cited by: 3 articles | PMID: 36792174 | PMCID: PMC10035778
Add to export list
This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
Free full text in Europe PMC
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Ververi A, Zagaglia S, Menzies L, Baptista J, Caswell R, Baulac S, Ellard S, Lynch S, Genomics England Research Consortium, Jacques TS, Chawla MS, Heier M, Kulseth MA, Mero IL, Våtevik AK, Kraoua I, Ben Rhouma H, Ben Younes T, Miladi Z, [...] Hurst JA
Hum Mol Genet, 32(4):580-594, 01 Jan 2023
Cited by: 2 articles | PMID: 36067010 | PMCID: PMC9896472
Add to export list
This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
Free full text in Europe PMC
Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans.
Guimier A, de Pontual L, Braddock SR, Torti E, Pérez-Jurado LA, Muñoz-Cabello P, Arumí M, Monaghan KG, Lee H, Wang LK, Pluym ID, Lynch SA, Stals K, Ellard S, Muller C, Houyel L, Cohen L, Lyonnet S, Bajolle F, [...] Gordon CT
Hum Mol Genet, 32(3):353-356, 01 Jan 2023
Cited by: 2 articles | PMID: 35396997
Add to export list
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Adamo CS, Beyens A, Schiavinato A, Keene DR, Tufa SF, Mörgelin M, Brinckmann J, Sasaki T, Niehoff A, Dreiner M, Pottie L, Muiño-Mosquera L, Gulec EY, Gezdirici A, Braghetta P, Bonaldo P, Wagener R, Paulsson M, Bornaun H, [...] Callewaert B
Am J Hum Genet, 109(12):2230-2252, 08 Nov 2022
Cited by: 4 articles | PMID: 36351433 | PMCID: PMC9748297
Add to export list Free full text in Europe PMC
Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism.
Wakeling MN, Owens NDL, Hopkinson JR, Johnson MB, Houghton JAL, Dastamani A, Flaxman CS, Wyatt RC, Hewat TI, Hopkins JJ, Laver TW, van Heugten R, Weedon MN, De Franco E, Patel KA, Ellard S, Morgan NG, Cheesman E, Banerjee I, [...] Flanagan SE
Nat Genet, 54(11):1615-1620, 04 Nov 2022
Cited by: 18 articles | PMID: 36333503 | PMCID: PMC7614032
Add to export list
This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
Free full text in Europe PMC
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V, Byrne AB, Feng BJ, Pagel KA, Mooney SD, Karchin R, O'Donnell-Luria A, Harrison SM, Tavtigian SV, Greenblatt MS, Biesecker LG, Radivojac P, Brenner SE, ClinGen Sequence Variant Interpretation Working Group
Am J Hum Genet, 109(12):2163-2177, 21 Nov 2022
Cited by: 139 articles | PMID: 36413997 | PMCID: PMC9748256
Add to export list
This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
Free full text in Europe PMC
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.
Happ HC, Sadleir LG, Zemel M, de Valles-Ibáñez G, Hildebrand MS, McConkie-Rosell A, McDonald M, May H, Sands T, Aggarwal V, Elder C, Feyma T, Bayat A, Møller RS, Fenger CD, Klint Nielsen JE, Datta AN, Gorman KM, King MD, [...] Carvill GL
Neurology, 100(6):e603-e615, 28 Oct 2022
Cited by: 8 articles | PMID: 36307226 | PMCID: PMC9946193
Add to export list Free full text in Europe PMC
Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ-adducin model.
Sanchez Marco SB, Buhl E, Firth R, Zhu B, Gainsborough M, Beleza-Meireles A, Moore S, Caswell R, Stals K, Ellard S, Kennedy C, Hodge JJL, Majumdar A
Clin Genet, 102(6):494-502, 18 Sep 2022
Cited by: 1 article | PMID: 36046955
Add to export list
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.
Janssen BDE, van den Boogaard MH, Lichtenbelt K, Seaby EG, Stals K, Ellard S, Newbury-Ecob R, Dixit A, Roht L, Pajusalu S, Õunap K, Firth HV, Buckley M, Wilson M, Roscioli T, Tidwell T, Mao R, Ennis S, Holwerda SJ, [...] van Jaarsveld RH
Hum Mutat, 43(12):1844-1851, 10 Aug 2022
Cited by: 4 articles | PMID: 35904126 | PMCID: PMC10087332
Add to export list
This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
Free full text in Europe PMC

1-25 of 711 results

1 2 3 Next ...

Search life-sciences literature (45,100,050 articles, preprints and more)

Suggested authors matching "AUTH:Ellard S" with an ORCID

Search results

Randomized Phase II Study of Durvalumab with or without Tremelimumab in Patients with Metastatic Castration Resistant Prostate Cancer.

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).

Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access.

Final analysis of the ALTTO trial: adjuvant trastuzumab in sequence or in combination with lapatinib in patients with HER2-positive early breast cancer [BIG 2-06/NCCTG N063D (Alliance)].

The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.

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

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

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.

De novo variants in KCNA3 cause developmental and epileptic encephalopathy.

The impact of erythropoiesis-stimulating agents administration concomitantly with adjuvant anti-HER2 treatments on the outcomes of patients with early breast cancer: a sub-analysis of the ALTTO study.

Primate-specific ZNF808 is essential for pancreatic development in humans.

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.

Antitumor Activity and Safety of Dostarlimab Monotherapy in Patients With Mismatch Repair Deficient Solid Tumors: A Nonrandomized Controlled Trial.

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

A perspective on in person scientific meetings.

Symptom-specific effects of counselling for depression compared to cognitive-behavioural therapy.

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.

Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans.

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.

Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism.

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

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

Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ-adducin model.

De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.

Partnerships & funding

Search life-sciences literature (45,100,050 articles, preprints and more)

Suggested authors matching "AUTH:Ellard S" with an ORCID Suggested authors have linked their articles in Europe PMC to their ORCID iD. Up to two suggested authors with a matching surname and initial are shown, ordered by the total number of publications they have in Europe PMC.

Search results

Partnerships & funding

Suggested authors matching "AUTH:Ellard S" with an ORCID