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Page 1
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, Dabaj I, Meddaugh H, Marble M, Keppler-Noreuil KM, Drayson L, Barañano KW, Chassevent A, Agre K, Létard P, Bilan F, Le Guyader G, Laquerrière A, Ramsey K, Henderson L, Brady L, Tarnopolsky M, Bainbridge M, Friedman J, Capri Y, Athayde L, Kok F, Gurgel-Giannetti J, Ramos LLP, Blaser S, Dowling JJ, Weksberg R. Deshwar AR, et al. Among authors: ellard s. Brain. 2023 Jun 1;146(6):2285-2297. doi: 10.1093/brain/awac461. Brain. 2023. PMID: 36477332
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, Linhares ND, Burton BK, Paras A, Ellard S, Rankin J, Shukla A, Majethia P, Olson RJ, Muthusamy K, Schimmenti LA, Starnes K, Sedláčková L, Štěrbová K, Vlčková M, Laššuthová P, Jahodová A, Porter BE, Couque N, Colin E, Prouteau C, Collet C, Smol T, Caumes R, Vansenne F, Bisulli F, Licchetta L, Person R, Torti E, McWalter K, Webster R, Gerard EE, Lesca G, Szepetowski P, Scheffer IE, Mefford HC, Carvill GL. Happ HC, et al. Among authors: ellard s. Neurology. 2023 Feb 7;100(6):e603-e615. doi: 10.1212/WNL.0000000000201492. Epub 2022 Oct 28. Neurology. 2023. PMID: 36307226 Free PMC article.
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. Pejaver V, et al. Am J Hum Genet. 2022 Dec 1;109(12):2163-2177. doi: 10.1016/j.ajhg.2022.10.013. Epub 2022 Nov 21. Am J Hum Genet. 2022. PMID: 36413997 Free PMC article.
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, De Rycke R, De Bruyne M, Baeke F, Devine WP, Gangaram B, Tam A, Balasubramanian M, Ellard S, Moore S, Symoens S, Shen J, Cole S, Schwarze U, Holmes KW, Hayflick SJ, Wiszniewski W, Nampoothiri S, Davis EC, Sakai LY, Sengle G, Callewaert B. Adamo CS, et al. Among authors: ellard s. Am J Hum Genet. 2022 Dec 1;109(12):2230-2252. doi: 10.1016/j.ajhg.2022.10.010. Epub 2022 Nov 8. Am J Hum Genet. 2022. PMID: 36351433 Free PMC article.
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, Waite A, Evans J, Newman A, Allen Z, Perez-Becerril C, Ryan G, Hart R, Taylor J, Bedenham T, Clement E, Blair E, Hay E, Forzano F, Higgs J, Canham N, Majumdar A, McEntagart M, Lahiri N, Stewart H, Smithson S, Calpena E, Jackson A, Banka S, Titheradge H, McGowan R, Rankin J, Shaw-Smith C, Evans DG, Burghel GJ, Smith MJ, Anderson E, Madhu R, Firth H, Ellard S, Brennan P, Anderson C, Taupin D, Rogers MT, Cook JA, Durkie M, East JE, Fowler D, Wilson L, Igbokwe R, Gardham A, Tomlinson I, Baralle D, Uhlig HH, Taylor JC. Pagnamenta AT, et al. Among authors: ellard s. Am J Hum Genet. 2024 May 16:S0002-9297(24)00159-9. doi: 10.1016/j.ajhg.2024.04.018. Online ahead of print. Am J Hum Genet. 2024. PMID: 38776926 Free article.
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, Flanagan SE, Otonkoski T, Hattersley AT, Imbeault M. De Franco E, et al. Among authors: ellard s. Nat Genet. 2023 Dec;55(12):2075-2081. doi: 10.1038/s41588-023-01565-x. Epub 2023 Nov 16. Nat Genet. 2023. PMID: 37973953 Free PMC article.
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, Harrison RE, Jones G, Houlden H, Ceravolo G, Jarvis J, Williams J, Shanks ME, Clouston P, Rankin J, Blumkin L, Lerman-Sagie T, Ponger P, Raskin S, Granath K, Uusimaa J, Conti H, McCann E, Joss S, Blakes AJM, Metcalfe K, Kingston H, Bertoli M, Kneen R, Lynch SA, Martínez Albaladejo I, Moore AP, Jones WD; Genomics England Research Consortium; Becker EBE, Németh AH. Tolonen JP, et al. Among authors: ellard s. Mov Disord. 2024 Jan;39(1):141-151. doi: 10.1002/mds.29651. Epub 2023 Nov 14. Mov Disord. 2024. PMID: 37964426 Free PMC article.
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. Martins-Branco D, et al. Among authors: ellard sl. Breast Cancer Res Treat. 2024 Feb;203(3):497-509. doi: 10.1007/s10549-023-07159-9. Epub 2023 Nov 8. Breast Cancer Res Treat. 2024. PMID: 37938495 Free PMC article.
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, Gilbert L, Brown J, Dewal N, Dabrowski C, Antony G, Zografos E, Veneris J, Banerjee S. André T, et al. Among authors: ellard s. JAMA Netw Open. 2023 Nov 1;6(11):e2341165. doi: 10.1001/jamanetworkopen.2023.41165. JAMA Netw Open. 2023. PMID: 37917058 Free PMC article. Clinical Trial.
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