Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
8 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Genet Med. 2021 Dec;23(12):2360-2368. doi: 10.1038/s41436-021-01297-5. Epub 2021 Aug 25.
Genet Med. 2021.
PMID: 34429528
Free PMC article.
The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.
Lippincott MF, Xu W, Smith AA, Miao X, Lafont A, Shennib O, Farley GJ, Sabbagh R, Delaney A, Stamou M, Plummer L, Salnikov K, Georgopoulos NA, Mericq V, Quinton R, Mau-Them FT, Nambot S, Hamad A, Brittain H, Tooze RS, Calpena E, Wilkie AOM, Willems M, Crowley WF, Balasubramanian R, Lamarche-Vane N, Davis EE, Seminara SB.
Lippincott MF, et al. Among authors: tooze rs.
Genet Med. 2022 Dec;24(12):2501-2515. doi: 10.1016/j.gim.2022.08.025. Epub 2022 Sep 30.
Genet Med. 2022.
PMID: 36178483
Free PMC article.
Item in Clipboard
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function.
Tooze RS, Calpena E, Twigg SRF, D'Arco F; Genomics England Research Consortium; Wakeling EL, Wilkie AOM.
Tooze RS, et al.
J Med Genet. 2023 Jul;60(7):712-716. doi: 10.1136/jmg-2022-108946. Epub 2022 Dec 21.
J Med Genet. 2023.
PMID: 36543535
Free PMC article.
Item in Clipboard
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.
Tooze RS, Calpena E, Weber A, Wilson LC, Twigg SRF, Wilkie AOM.
Tooze RS, et al.
Genes (Basel). 2023 Feb 28;14(3):615. doi: 10.3390/genes14030615.
Genes (Basel). 2023.
PMID: 36980886
Free PMC article.
Item in Clipboard
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Tooze RS, Miller KA, Swagemakers SMA, Calpena E, McGowan SJ, Boute O, Collet C, Johnson D, Laffargue F, de Leeuw N, Morton JV, Noons P, Ockeloen CW, Phipps JM, Tan TY, Timberlake AT, Vanlerberghe C, Wall SA, Weber A, Wilson LC, Zackai EH, Mathijssen IMJ, Twigg SRF, Wilkie AOM.
Tooze RS, et al.
Genet Med. 2023 Sep;25(9):100883. doi: 10.1016/j.gim.2023.100883. Epub 2023 May 5.
Genet Med. 2023.
PMID: 37154149
Free article.
Item in Clipboard
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.
Miller KA, Cruz Walma DA, Pinkas DM, Tooze RS, Bufton JC, Richardson W, Manning CE, Hunt AE, Cros J, Hartill V, Parker MJ, McGowan SJ, Twigg SRF, Chalk R, Staunton D, Johnson D, Wilkie AOM, Bullock AN.
Miller KA, et al. Among authors: tooze rs.
J Med Genet. 2024 Apr 19;61(5):490-501. doi: 10.1136/jmg-2023-109531.
J Med Genet. 2024.
PMID: 38296633
Free PMC article.
Item in Clipboard
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.
Watts LM, Bertoli M, Attie-Bitach T, Roux N, Rausell A, Paschal CR, Zambonin JL, Curry CJ, Martin B, Tooze RS, Hawkes L, Kini U, Twigg SRF, Wilkie AOM.
Watts LM, et al. Among authors: tooze rs.
Eur J Hum Genet. 2024 May 17. doi: 10.1038/s41431-024-01624-9. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 38760421
Item in Clipboard
Navigating an early career in genomics and data science, written from the perspective of a current PhD student.
Tooze R.
Tooze R.
Patterns (N Y). 2022 Jul 8;3(7):100548. doi: 10.1016/j.patter.2022.100548. eCollection 2022 Jul 8.
Patterns (N Y). 2022.
PMID: 35845831
Free PMC article.
Item in Clipboard
Cite
Cite