Publications

Selected

Advancing the Landscape of Clinical Actionability in Von Hippel-Lindau Syndrome: An Evidence-Based Framework from the INT²GRATE Oncology Consortium.

Diane R Koeller, McKenzie Walker, Busra Unal, Anu Chittenden, Alison Schwartz Levine, Connor P Hayes, Paul C Oramasionwu, Monica D Manam, Ryan M Buehler, Israel Gomy, Wilson Araujo Silva Jr, Jordan Lerner-Ellis, Selina Casalino, Radhika Mahajan, Nicholas Watkins, Nihat Bugra Agaoglu, Danielle K Manning, Justine A Barletta, Jason L Hornick, Neal I Lindeman, Lynette M Sholl, Huma Q Rana, Judy E Garber, Arezou A Ghazani. Cancers (Basel) 2025 Jun 27;17(13):2173. doi: 10.3390/cancers17132173. PMID: 40647474.

Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes.

Rana HQ, Koeller DR, Walker M, Unal B, Levine AS, Chittenden A, Isidro RA, Hayes CP, Manam MD, Buehler RM, Manning DK, Barletta JA, Hornick JL, Garber JE, Ghazani AA, Int2grate Oncology Consortium.Cancers (Basel). 2024 Feb 26;16(5):947. doi: 10.3390/cancers16050947. PMID: 38473309.

Development and evaluation of INT²GRATE: a platform for comprehensive assessment of the role of germline variants informed by tumor signature profile in Lynch syndrome.

Isidro RA, Chittenden A, Walker M, Schwartz A, Koeller DR, Hayes CP, Unal B, Manam MD, Buehler RM, Manning DK, Sholl LM, Redston MS, Yurgelun MB, Rana HQ, Garber JE, Ghazani AA.Front Oncol. 2024 Jan 24;13:1284690. doi: 10.3389/fonc.2023.1284690. eCollection 2023. PMID: 38344144.

An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes.

Schwartz A, Manning DK, Koeller DR, Chittenden A, Isidro RA, Hayes CP, Abraamyan F, Manam MD, Dwan M, Barletta JA, Sholl LM, Yurgelun MB, Rana HQ, Garber JE, Ghazani AA.Front Oncol. 2022 Aug 25;12:942741. doi: 10.3389/fonc.2022.942741. eCollection 2022. PMID: 36091175.

An optimized protocol for evaluating pathogenicity of VHL germline variants in patients suspected with von Hippel-Lindau syndrome: Using somatic genome to inform the role of germline variants.

Koeller DR, Manning DK, Schwartz A, Chittenden A, Hayes CP, Abraamyan F, Rana HQ, Lindeman NI, Garber JE, Ghazani AA.MethodsX. 2022 Jun 18;9:101761. doi: 10.1016/j.mex.2022.101761. eCollection 2022.PMID: 35774415.

Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results.

Rana HQ, Koeller DR, Schwartz A, Manning DK, Schneider KA, Krajewski KM, Choueiri TK, Lindeman NI, Garber JE, Ghazani AA.Eur J Med Genet. 2021 Dec;64(12):104359. doi: 10.1016/j.ejmg.2021.104359. Epub 2021 Oct 8.PMID: 34628056.

Assessment of genomic alterations in non-syndromic von Hippel-Lindau: Insight from integrating somatic and germline next generation sequencing genomic data.

Manning DK, Shivdasani P, Koeller DR, Schwartz A, Rana HQ, Garber JE, Lindeman NI, Ghazani AA. Data Brief. 2021 Dec 1;39:107653. doi: 10.1016/j.dib.2021.107653. eCollection 2021 Dec.PMID: 34934780.