Bonthron DT - Search Results

1

Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.

Luyckx I, Walton IS, Boeckx N, Van Schil K, Pang C, De Praeter M, Lord H, Watson CM, Bonthron DT, Van Laer L, Wilkie AOM, Loeys B. Luyckx I, et al. Among authors: bonthron dt. J Med Genet. 2024 Mar 21;61(4):363-368. doi: 10.1136/jmg-2023-109151. J Med Genet. 2024. PMID: 38290823 Free PMC article.

2

Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12.

Walker K, Mistry A, Watson CM, Nadat F, O'Callaghan E, Care M, Crinnion LA, Arumugakani G, Bonthron DT, Carter C, Doody GM, Savic S. Walker K, et al. Among authors: bonthron dt. J Clin Immunol. 2023 Oct;43(7):1543-1556. doi: 10.1007/s10875-023-01511-w. Epub 2023 May 29. J Clin Immunol. 2023. PMID: 37246174 Free PMC article.

3

Long-read sequencing to resolve the parent of origin of a de novo pathogenic UBE3A variant.

Watson CM, Jackson L, Crinnion LA, Bonthron DT, Sheridan E. Watson CM, et al. Among authors: bonthron dt. J Med Genet. 2022 Nov;59(11):1082-1086. doi: 10.1136/jmedgenet-2021-108314. Epub 2022 Apr 12. J Med Genet. 2022. PMID: 35414530

4

Long-read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis.

Watson CM, Holliday DL, Crinnion LA, Bonthron DT. Watson CM, et al. Among authors: bonthron dt. Prenat Diagn. 2022 Feb;42(2):226-232. doi: 10.1002/pd.6089. Epub 2022 Jan 18. Prenat Diagn. 2022. PMID: 35014072 Free PMC article.

5

Long-read nanopore sequencing enables accurate confirmation of a recurrent PMS2 insertion-deletion variant located in a region of complex genomic architecture.

Watson CM, Crinnion LA, Simmonds J, Camm N, Adlard J, Bonthron DT. Watson CM, et al. Among authors: bonthron dt. Cancer Genet. 2021 Aug;256-257:122-126. doi: 10.1016/j.cancergen.2021.05.012. Epub 2021 May 28. Cancer Genet. 2021. PMID: 34116445

6

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.

Chai G, Webb A, Li C, Antaki D, Lee S, Breuss MW, Lang N, Stanley V, Anzenberg P, Yang X, Marshall T, Gaffney P, Wierenga KJ, Chung BH, Tsang MH, Pais LS, Lovgren AK, VanNoy GE, Rehm HL, Mirzaa G, Leon E, Diaz J, Neumann A, Kalverda AP, Manfield IW, Parry DA, Logan CV, Johnson CA, Bonthron DT, Valleley EMA, Issa MY, Abdel-Ghafar SF, Abdel-Hamid MS, Jennings P, Zaki MS, Sheridan E, Gleeson JG. Chai G, et al. Among authors: bonthron dt. Neuron. 2021 Jan 20;109(2):241-256.e9. doi: 10.1016/j.neuron.2020.10.035. Epub 2020 Nov 20. Neuron. 2021. PMID: 33220177 Free PMC article.

7

Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions.

Watson CM, Crinnion LA, Lindsay H, Mitchell R, Camm N, Robinson R, Joyce C, Tanteles GA, Halloran DJO, Pena SDJ, Carr IM, Bonthron DT. Watson CM, et al. Among authors: bonthron dt. Lab Invest. 2021 Apr;101(4):442-449. doi: 10.1038/s41374-020-00489-y. Epub 2020 Sep 28. Lab Invest. 2021. PMID: 32989232 Free article.

8

Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome.

Watson CM, Dean P, Camm N, Bates J, Carr IM, Gardiner CA, Bonthron DT. Watson CM, et al. Among authors: bonthron dt. Hum Mutat. 2020 Feb;41(2):525-531. doi: 10.1002/humu.23940. Epub 2019 Nov 11. Hum Mutat. 2020. PMID: 31663672 Free article.

9

Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications.

Watson CM, Crinnion LA, Hewitt S, Bates J, Robinson R, Carr IM, Sheridan E, Adlard J, Bonthron DT. Watson CM, et al. Among authors: bonthron dt. Lab Invest. 2020 Jan;100(1):135-146. doi: 10.1038/s41374-019-0283-0. Epub 2019 Jul 4. Lab Invest. 2020. PMID: 31273287 Free PMC article.

10

RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency.

Watson CM, Stockdale C, Berry I, Crinnion LA, Carr IM, Cant A, Bonthron DT, Savic S. Watson CM, et al. Among authors: bonthron dt. J Clin Immunol. 2019 Apr;39(3):270-273. doi: 10.1007/s10875-019-00625-4. Epub 2019 Apr 16. J Clin Immunol. 2019. PMID: 30989467 Free article. No abstract available.

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