Hilton BA - Search Results

1

Paternal UPD14 with sSMC derived from chromosome 14 in Kagami-Ogata syndrome.

Wang J, Lichty A, Johnson J, Couick C, Moore MA, Christensen B, Howard K, Lee JA, DuPont BR, Clarkson L, Hilton BA. Wang J, et al. Among authors: hilton ba. Chromosome Res. 2023 Jan 19;31(1):1. doi: 10.1007/s10577-023-09712-0. Chromosome Res. 2023. PMID: 36656404 No abstract available.

2

Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing.

Sahajpal NS, Mondal AK, Fee T, Hilton B, Layman L, Hastie AR, Chaubey A, DuPont BR, Kolhe R. Sahajpal NS, et al. J Mol Diagn. 2023 Apr;25(4):234-246. doi: 10.1016/j.jmoldx.2023.01.006. Epub 2023 Feb 8. J Mol Diagn. 2023. PMID: 36758723 Free article.

3

Clinical Utility of Optical Genome Mapping and 523-Gene Next Generation Sequencing Panel for Comprehensive Evaluation of Myeloid Cancers.

Sahajpal NS, Mondal AK, Singh H, Vashisht A, Ananth S, Saul D, Hastie AR, Hilton B, DuPont BR, Savage NM, Kota V, Chaubey A, Cortes JE, Kolhe R. Sahajpal NS, et al. Cancers (Basel). 2023 Jun 16;15(12):3214. doi: 10.3390/cancers15123214. Cancers (Basel). 2023. PMID: 37370824 Free PMC article.

4

17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation.

Sahajpal NS, Jeffrey DHF, DuPont BR, Hilton B. Sahajpal NS, et al. Mol Cytogenet. 2023 Jul 10;16(1):15. doi: 10.1186/s13039-023-00644-2. Mol Cytogenet. 2023. PMID: 37430334 Free PMC article.

5

The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development.

Sajan SA, Brown CM, Davis-Keppen L, Burns K, Royer E, Coleman JAC, Hilton BA, DuPont BR, Perry DL, Taft RJ, Kesari A. Sajan SA, et al. Among authors: hilton ba. Am J Med Genet A. 2023 Dec;191(12):2831-2836. doi: 10.1002/ajmg.a.63367. Epub 2023 Aug 8. Am J Med Genet A. 2023. PMID: 37551848

6

Optical Genome Mapping: Integrating Structural Variations for Precise Homologous Recombination Deficiency Score Calculation.

Sahajpal NS, Mondal AK, Vashisht A, Singh H, Pang AWC, Saul D, Nivin O, Hilton B, DuPont BR, Kota V, Savage NM, Hastie AR, Chaubey A, Kolhe R. Sahajpal NS, et al. Genes (Basel). 2023 Aug 25;14(9):1683. doi: 10.3390/genes14091683. Genes (Basel). 2023. PMID: 37761823 Free PMC article.

7

Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.

Kerkhof J, Rastin C, Levy MA, Relator R, McConkey H, Demain L, Dominguez-Garrido E, Kaat LD, Houge SD, DuPont BR, Fee T, Fletcher RS, Gokhale D, Haukanes BI, Henneman P, Hilton S, Hilton BA, Jenkinson S, Lee JA, Louie RJ, Motazacker MM, Rzasa J, Stevenson RE, Plomp A, van der Laan L, van der Smagt J, Walden KK, Banka S, Mannens M, Skinner SA, Friez MJ, Campbell C, Tedder ML, Alders M, Sadikovic B. Kerkhof J, et al. Among authors: hilton ba. Genet Med. 2024 May;26(5):101075. doi: 10.1016/j.gim.2024.101075. Epub 2024 Jan 18. Genet Med. 2024. PMID: 38251460

8

Large Chromosome 2p Duplication-Associated Mechanisms and Clinical Presentations.

Fang X, Hilton B, Clarkson K, Rogers RC, Schroer R, Childers A, Patterson WG, Davis JM, Everman DB, DuPont BR. Fang X, et al. Cytogenet Genome Res. 2023;163(1-2):14-23. doi: 10.1159/000533218. Epub 2023 Jul 27. Cytogenet Genome Res. 2023. PMID: 37497920 Free article.

9

Bench to Bedside: Rapid Leber Hereditary Optic Neuropathy Diagnosis.

Hilton B. Hilton B. J Mol Diagn. 2023 Aug;25(8):536-539. doi: 10.1016/j.jmoldx.2023.06.001. J Mol Diagn. 2023. PMID: 37517823 Free article. No abstract available.

10

A multicenter analysis of individuals with a 47,XXY/46,XX karyotype.

Guess T, Wheeler FC, Yenamandra A, Schilit SLP, Anderson HS, Bone KM, Carstens B, Conlin L, Dulik MC, Dupont BR, Fanning E, Gardner JA, Haag M, Hilton BA, Johnson J, Kogan J, Murry J, Polonis K, Quigley DI, Repnikova EA, Rowsey RA, Spinner N, Stoeker M, Thurston V, Wiley M, Zhang L. Guess T, et al. Among authors: hilton ba. Genet Med. 2024 Oct;26(10):101212. doi: 10.1016/j.gim.2024.101212. Epub 2024 Jul 14. Genet Med. 2024. PMID: 39011769

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