Ennis S - Search Results

1

Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.

Josephs KS, Seaby EG, May P, Theotokis P, Yu J, Andreou A, Sinclair H, Morris-Rosendahl D, Thomas ERA, Ennis S, Roberts AM, Ware JS. Josephs KS, et al. Among authors: ennis s. Genome Med. 2024 Oct 29;16(1):125. doi: 10.1186/s13073-024-01390-9. Genome Med. 2024. PMID: 39472908 Free PMC article.

2

A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine Service.

Seaby EG, Thomas NS, Hunt D, Baralle D, Rehm HL, O'Donnell-Luria A, Ennis S. Seaby EG, et al. Among authors: ennis s. medRxiv [Preprint]. 2023 Feb 1:2023.01.31.23285025. doi: 10.1101/2023.01.31.23285025. medRxiv. 2023. Update in: Healthcare (Basel). 2023 Dec 15;11(24):3179. doi: 10.3390/healthcare11243179. PMID: 36778464 Free PMC article. Updated. Preprint.

3

A gene pathogenicity tool 'GenePy' identifies missed biallelic diagnoses in the 100,000 Genomes Project.

Seaby EG, Leggatt G, Cheng G, Thomas NS, Ashton JJ, Stafford I; Genomics England Consortium; Baralle D, Rehm HL, O'Donnell-Luria A, Ennis S. Seaby EG, et al. Among authors: ennis s. medRxiv [Preprint]. 2023 Mar 30:2023.03.21.23287545. doi: 10.1101/2023.03.21.23287545. medRxiv. 2023. Update in: Genet Med. 2024 Apr;26(4):101073. doi: 10.1016/j.gim.2024.101073. PMID: 37034701 Free PMC article. Updated. Preprint.

4

A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.

Seaby EG, Leggatt G, Cheng G, Thomas NS, Ashton JJ, Stafford I, Baralle D, Rehm HL, O'Donnell-Luria A, Ennis S; Genomics England Research Consortium. Seaby EG, et al. Among authors: ennis s. Genet Med. 2024 Apr;26(4):101073. doi: 10.1016/j.gim.2024.101073. Epub 2024 Jan 18. Genet Med. 2024. PMID: 38245859 Free article.

5

The Pediatric Crohn Disease Morbidity Index (PCD-MI): Development of a Tool to Assess Long-Term Disease Burden Using a Data-Driven Approach.

Ashton JJ, Gurung A, Davis C, Seaby EG, Coelho T, Batra A, Afzal NA, Ennis S, Beattie RM. Ashton JJ, et al. Among authors: ennis s. J Pediatr Gastroenterol Nutr. 2023 Jul 1;77(1):70-78. doi: 10.1097/MPG.0000000000003793. Epub 2023 Apr 20. J Pediatr Gastroenterol Nutr. 2023. PMID: 37079872 Free PMC article.

6

A Role for Genetic Modifiers in Tubulointerstitial Kidney Diseases.

Leggatt GP, Seaby EG, Veighey K, Gast C, Gilbert RD, Ennis S. Leggatt GP, et al. Among authors: ennis s. Genes (Basel). 2023 Aug 3;14(8):1582. doi: 10.3390/genes14081582. Genes (Basel). 2023. PMID: 37628633 Free PMC article. Review.

7

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.

Seaby EG, Godwin A, Meyer-Dilhet G, Clerc V, Grand X, Fletcher T, Monteiro L, Kerkhofs M, Carelli V, Palombo F, Seri M, Olivucci G, Grippa M, Ciaccio C, D'Arrigo S, Iascone M, Bermudez M, Fischer J, Di Donato N, Goesswein S, Leung ML, Koboldt DC, Myers C, Arnadottir GA, Stefansson K, Sulem P, Goldberg EM, Bruel AL, Tran Mau Them F, Willems M, Bjornsson HT, Hognason HB, Thorolfsdottir ET, Agolini E, Novelli A, Zampino G, Onesimo R, Lachlan K, Baralle D, Rehm HL, O'Donnell-Luria A, Courchet J, Guille M, Bourgeois CF, Ennis S. Seaby EG, et al. Among authors: ennis s. Brain. 2024 Oct 15:awae320. doi: 10.1093/brain/awae320. Online ahead of print. Brain. 2024. PMID: 39405200

8

A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project).

Leggatt G, Cheng G, Narain S, Briseño-Roa L, Annereau JP; Genomics England Research Consortium; Gast C, Gilbert RD, Ennis S. Leggatt G, et al. Among authors: ennis s. Sci Rep. 2023 Jun 9;13(1):9369. doi: 10.1038/s41598-023-32169-4. Sci Rep. 2023. PMID: 37296294 Free PMC article.

9

Supervised Machine Learning Classifies Inflammatory Bowel Disease Patients by Subtype Using Whole Exome Sequencing Data.

Stafford IS, Ashton JJ, Mossotto E, Cheng G, Mark Beattie R, Ennis S. Stafford IS, et al. Among authors: ennis s. J Crohns Colitis. 2023 Nov 8;17(10):1672-1680. doi: 10.1093/ecco-jcc/jjad084. J Crohns Colitis. 2023. PMID: 37205778 Free PMC article.

10

Pharmacogenomic Assessment of Genes Implicated in Thiopurine Metabolism and Toxicity in a UK Cohort of Pediatric Patients With Inflammatory Bowel Disease.

Coelho T, Cheng G, Lewis S, Ashton JJ, Barakat F, Driscoll KCT, Sholeye-Bolaji AE, Batra A, Afzal NA, Beattie RM, Ennis S. Coelho T, et al. Among authors: ennis s. Inflamm Bowel Dis. 2024 Jul 16:izae126. doi: 10.1093/ibd/izae126. Online ahead of print. Inflamm Bowel Dis. 2024. PMID: 39011784

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