Cuk M, Unal B, Jandrica N, Hayes CP, Walker M, Abraamyan F, Gornik KC, Ghazani AA. Novel RAI1:c.2736delC Variant in Smith–Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis. Journal of Personalized Medicine. 2024; 14(9):901. https://doi.org/10.3390/jpm14090901

Ćuk M, Unal B, Hayes CP, Walker M, Bevanda A, Antolović V, Ghazani AA. Whole genome joint analysis reveals ATM:C.1564_1565del variant segregating with Ataxia-Telangiectasia and breast cancer. Cancer Genet. 2024 Aug;286-287:43-47. doi: 10.1016/j.cancergen.2024.07.002. Epub 2024 Jul 25. PMID: 39067332.  PubMed

Cuk M, Unal B, Bevanda A, Hayes CP, Walker M, Abraamyan F, Beluzic R, Gornik KC, Ozretic D, Prutki M, Nie Q, Reddi HV, Ghazani AA. Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping. Genes (Basel). 2024 Jul 19;15(7):946. doi: 10.3390/genes15070946. PMID: 39062725; PMCID: PMC11276144.  PubMed

Ćuk M, Lovrenčić L, Unal B, Walker M, Hayes CP, Krakar G, Beluzić R, Sansović I, Pavliša G, Ghazani AA. Novel de Novo Nonsense Variants in AGO3 and KHSRP: Insights into Global Developmental Delay and Autism Spectrum Disorders through Whole Genome Analysis. Am J Case Rep. 2024 Jul 12;25:e943641. doi: 10.12659/AJCR.943641. PMID: 38995884; PMCID: PMC11315612.  PubMed

Kipnis LM, Breen KM, Koeller DR, Levine AS, Yang Z, Jun H, Tayob N, Stokes SM, Hayes CP, Ghazani AA, Hill SJ, Rana HQ. Germline and Somatic Fumarate Hydratase Testing in Atypical Uterine Leiomyomata. Cancer Prev Res (Phila). 2024 May 2;17(5):201-208. doi: 10.1158/1940-6207.CAPR-23-0535. PMID: 38638033.  PubMed

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. Advancing Precision Oncology in Hereditary Paraganglioma-Pheochromocytoma Syndromes: Integrated Interpretation and Data Sharing of the Germline and Tumor Genomes. Cancers (Basel). 2024 Feb 26;16(5):947. doi: 10.3390/cancers16050947. PMID: 38473309; PMCID: PMC10931192.  PubMed

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. Development and evaluation of INT2GRATE: a platform for comprehensive assessment of the role of germline variants informed by tumor signature profile in Lynch syndrome. Front Oncol. 2024 Jan 24;13:1284690. doi: 10.3389/fonc.2023.1284690. PMID: 38344144; PMCID: PMC10854004.  PubMed

Agaoglu NB, Unal B, Hayes CP, Walker M, Ng OH, Doganay L, Can ND, Rana HQ, Ghazani AA. Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients. Cancer Med. 2024 Feb;13(3):e6852. doi: 10.1002/cam4.6852. Epub 2024 Feb 2. PMID: 38308423; PMCID: PMC10905328.  PubMed

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. An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes. Front Oncol. 2022;12:94274.  PubMed

Koeller DR, Schwartz A, DeSimone MS, Rana HQ, Rojas-Rudilla V, Russell-Goldman E, Laga AC, Lindeman NI, Garber JE, Ghazani AA. Vulvar Melanoma in association with germline MITF p.E318K variant. Cancer Genet 2022; 262-263:102-106.  PubMed

Agaoglu NB, Ng OH, Unal B, Dogan OA, Amanvermez U, Yildiz J, Doganay L, Ghazani AA, Rana HQ. Concurrent Pathogenic Variants of BRCA1, MUTYH and CHEK2 in a Hereditary Cancer Family. Cancer Genet 2022; 268-269:128-136. PubMed

Koeller DR, Manning DK, Schwartz A, Chittenden A, Hayes CP, Abraamyan F, Rana HQ, Lindeman NI, Garber JE, Ghazani AA. An optimized protocol for evaluating pathogenicity of germline variants in patients suspected with von Hippel-Lindau syndrome: Using somatic genome to inform the role of germline variants. MethodsX 2022; 9:101761.  PubMed

Manning DK, Shivdasani P, Koeller DR, Schwartz A, Rana HQ, Garber JE, Lindeman NI, Ghazani AA. Assessment of genomic alterations in non-syndromic von Hippel-Lindau: Insight from integrating somatic and germline next generation sequencing genomic data. Data Brief 2021; 39:107653.  PubMed

Rana HQ, Koeller DR, Schwartz A, Manning DK, Schneider KA, Krajewski KM, Choueiri TK, Lindeman NI, Garber JE, Ghazani AA. Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results. Eur J Med Genet 2021; 64:104359.  PubMed

Ghazani AA, Breen KM, Dwan M, Barletta JA, Vatnick DR, Stokes SM, Block C, Doherty GM, Cohn AY, Marqusee E, Garber JE, Rana HQ. Unexpected Pathogenic RET p.V804M Variant Leads to the Clinical Diagnosis and Management of Medullary Thyroid Carcinoma. Am J Case Rep 2020; 21:e927415.  PubMed

Koeller DR, Schwartz A, Manning DK, Dong F, Lindeman NI, Garber JE, Ghazani AA. Novel Pathogenic Germline Variant of the Adenomatous Polyposis Coli (APC) Gene, p.S2627Gfs*12 Identified in a Mild Phenotype of APC-Associated Polyposis: A Case Report. Am J Case Rep 2020; 21:e927293.  PubMed

Hart MR, Biesecker BB, Blout CL, Christensen KD, Amendola LM, Bergstrom KL, Biswas S, Bowling KM, Brothers KB, Conlin LK, Cooper GM, Dulik MC, East KM, Everett JN, Finnila CR, Ghazani AA, Gilmore MJ, Goddard KAB, Jarvik GP, Johnston JJ, Kauffman TL, Kelley WV, Krier JB, Lewis KL, McGuire AL, McMullen C, Ou J, Plon SE, Rehm HL, Richards CS, Romasko EJ, Sagardia AM, Spinner NB, Thompson ML, Turbitt E, Vassy JL, Wilfond BS, Veenstra DL, Berg JS, Green RC, Biesecker LG, Hindorff LA. Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. Genet Med 2019; 21:1261-1262.  PubMed

Hart MR, Biesecker BB, Blout CL, Christensen KD, Amendola LM, Bergstrom KL, Biswas S, Bowling KM, Brothers KB, Conlin LK, Cooper GM, Dulik MC, East KM, Everett JN, Finnila CR, Ghazani AA, Gilmore MJ, Goddard KAB, Jarvik GP, Johnston JJ, Kauffman TL, Kelley WV, Krier JB, Lewis KL, McGuire AL, McMullen C, Ou J, Plon SE, Rehm HL, Richards CS, Romasko EJ, Miren Sagardia A, Spinner NB, Thompson ML, Turbitt E, Vassy JL, Wilfond BS, Veenstra DL, Berg JS, Green RC, Biesecker LG, Hindorff LA. Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. Genet Med 2019; 21:1100-1110.  PubMed

Porter KM, Kauffman TL, Koenig BA, Lewis KL, Rehm HL, Richards CS, Strande NT, Tabor HK, Wolf SM, Yang Y, Amendola LM, Azzariti DR, Berg JS, Bergstrom K, Biesecker LG, Biswas S, Bowling KM, Chung WK, Clayton EW, Conlin LK, Cooper GM, Dulik MC, Garraway LA, Ghazani AA, Green RC, Hiatt SM, Jamal SM, Jarvik GP, Goddard KAB, Wilfond BS, . Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience. Mol Genet Genomic Med 2018.  PubMed

Aguirre AJ, Nowak JA, Camarda ND, Moffitt RA, Ghazani AA, Hazar-Rethinam M, Raghavan S, Kim J, Brais LK, Ragon D, Welch MW, Reilly E, McCabe D, Marini L, Anderka K, Helvie K, Oliver N, Babic A, Da Silva A, Nadres B, Van Seventer EE, Shahzade HA, St Pierre JP, Burke KP, Clancy TE, Cleary JM, Doyle LA, Jajoo K, McCleary NJ, Meyerhardt JA, Murphy JE, Ng K, Patel AK, Perez K, Rosenthal MH, Rubinson DA, Ryou M, Shapiro GI, Sicinska E, Silverman SG, Nagy RJ, Lanman RB, Knoerzer D, Welsch DJ, Yurgelun MB, Fuchs CS, Garraway LA, Getz G, Hornick JL, Johnson BE, Kulke MH, Mayer RJ, Miller JW, Shyn PB, Tuveson DA, Wagle N, Yeh JJ, Hahn WC, Corcoran RB, Carter SL, Wolpin BM. Real-time genomic characterization of advanced pancreatic cancer to enable precision medicine. 2018.  PubMed

Ghazani AA, Oliver NM, St Pierre JP, Garofalo A, Rainville IR, Hiller E, Treacy DJ, Rojas-Rudilla V, Wood S, Bair E, Parello M, Huang F, Giannakis M, Wilson FH, Stover EH, Corsello SM, Nguyen T, Rana HQ, Church AJ, Lowenstein C, Cibulskis C, Amin-Mansour A, Heng J, Brais L, Santos A, Bauer P, Waldron A, Lo P, Gorman M, Lydon CA, Welch M, McNamara P, Gabriel S, Sholl LM, Lindeman NI, Garber JE, Joffe S, Van Allen EM, Gray SW, Ja Nne PA, Garraway LA, Wagle N. Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study. Genet Med 2017.  PubMed

O’Daniel JM, McLaughlin HM, Amendola LM, Bale SJ, Berg JS, Bick D, Bowling KM, Chao EC, Chung WK, Conlin LK, Cooper GM, Das S, Deignan JL, Dorschner MO, Evans JP, Ghazani AA, Goddard KA, Gornick M, Farwell Hagman KD, Hambuch T, Hegde M, Hindorff LA, Holm IA, Jarvik GP, Knight Johnson A, Mighion L, Morra M, Plon SE, Punj S, Richards CS, Santani A, Shirts BH, Spinner NB, Tang S, Weck KE, Wolf SM, Yang Y, Rehm HL. A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. Genet Med 2017; 19:575-582.  PubMed

Gee MS, Ghazani AA, Haq R, Wargo JA, Sebas M, Sullivan RJ, Lee H, Weissleder R. Point of care assessment of melanoma tumor signaling and metastatic burden from μNMR analysis of tumor fine needle aspirates and peripheral blood. 2016.  PubMed

Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet 2016; 98:1067-1076.  PubMed

Garofalo A, Sholl L, Reardon B, Taylor-Weiner A, Amin-Mansour A, Miao D, Liu D, Oliver N, MacConaill L, Ducar M, Rojas-Rudilla V, Giannakis M, Ghazani A, Gray S, Janne P, Garber J, Joffe S, Lindeman N, Wagle N, Garraway LA, Van Allen EM. The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine. Genome Med 2016; 8:79.  PubMed

Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet 2016; 99:247.  PubMed