Publications

Titles link to the paper. * marks co-first authorship. Also on Google Scholar and ORCID.

Peer-reviewed articles

• Multi-omic re-analysis increases diagnostic yield in individuals with Cornelia de Lange syndrome Rajagopalan R, Jammihal T, Jadhav T, Kaur M, Szot K, Blair J, Raible SE, Conlin LK, Krantz I npj Genomic Medicine (2026) · doi:10.1038/s41525-026-00602-y
• Novel biallelic LIG3 mutations causing lethal phenotype with immunodeficiency Kilich G, Jadhav T, Maurer K, Breen C, Jammihal T, et al., Rajagopalan R, Sullivan KE American Journal of Medical Genetics Part A 200(7), 1662–1667 (2026) · doi:10.1002/ajmg.a.70104
• Placental malperfusion is associated with adverse outcomes in congenital heart disease and with genetic variants in placental developmental pathways Josowitz R, Woyciechowski S, Jadhav T, Jammihal T, Linn RL, Rychik J, Gaynor JW, Rajagopalan R, Spinner NB JACC 86(19), 1704–1720 (2025) · doi:10.1016/j.jacc.2025.07.069
• An unusual cause of hexokinase 1 deficiency: case report Kilich G, Maurer K, Jadhav T, Jammihal T, et al., Rajagopalan R, Sullivan KE eJHaem 6(4), e70123 (2025) · doi:10.1002/jha2.70123
• Immunogenomic determinants of exceptional response to immune checkpoint inhibition in renal cell carcinoma Jammihal T*, Saliby RM*, Labaki C, et al., Van Allen EM, Choueiri TK, Braun DA, Shukla SA Nature Cancer 6(2), 372–384 (2025) · doi:10.1038/s43018-024-00896-w Co-first author
• Impact of renal cell carcinoma molecular subtypes on immunotherapy and targeted therapy outcomes Saliby RM*, Labaki C, Jammihal T*, et al., Shukla SA, Choueiri TK, Braun DA Cancer Cell 42(5), 732–735 (2024) · doi:10.1016/j.ccell.2024.03.002 Co-first author
• Multidimensional molecular profiling of metastatic triple-negative breast cancer and immune checkpoint inhibitor benefit Barroso-Sousa R, Forman J, Collier KA, Weber ZT, Jammihal TR, Kao KZ, et al., Shukla SA, Tolaney SM JCO Precision Oncology 6, e2100413 (2022) · doi:10.1200/PO.21.00413

Preprints

• Overcoming a diagnostic blindspot: identifying balanced translocations in Mendelian rare disease cohorts Jammihal TR, Szot K, Kaur M, Esteves C, Kobren SN, Undiagnosed Diseases Network, Conlin L, Rajagopalan R medRxiv (2026) · doi:10.64898/2026.09.30.26363717 First author
• PTPN1-related autoinflammation is a common cause of Aicardi-Goutières syndrome with reduced penetrance Calame DG, Wiener EK, et al., Jammihal T, et al., Lupski JR, Gibbs RA, Rajagopalan R, Vanderver A medRxiv (2026) · doi:10.64898/2026.03.27.26345228

Conference abstracts and presentations

Rare disease and clinical genomics

• WAFL: a comprehensive, multi-omic computational workflow for rare disease diagnostics using long read sequencing Rajagopalan R, Jammihal T, Kilich G, Kaur M, Szot K, Maripuri P, Conlin L, Sullivan K, Jadhav T ACMG Annual Clinical Genetics Meeting Genetics in Medicine Open 4, 104340 (2026) Oral presentation
• PTPN1-related autoinflammation is a common cause of Aicardi-Goutières syndrome with reduced penetrance Wiener EK, Calame DG, et al., Jammihal T, et al., Rajagopalan R, Vanderver A ACMG Annual Clinical Genetics Meeting Genetics in Medicine Open 4, 103650 (2026)
• An unusual cause of hexokinase 1 deficiency Kilich G, Maurer K, Jadhav T, Jammihal T, et al., Rajagopalan R, Sullivan K ACMG Annual Clinical Genetics Meeting Genetics in Medicine Open 3, 103265 (2025)
• Immunodeficiency in mitochondrial DNA depletion syndrome 20: a new phenotypic insight into LIG3 mutations Kilich G, Schindewolf E, Lairson L, Maurer K, Jadhav T, Jammihal T, et al., Sullivan KE Clinical Immunology Society Annual Meeting Journal of Human Immunity 1 (2025) · doi:10.70962/cis2025abstract.147
• VPS45 deficiency with features of hemophagocytic lymphohistiocytosis and progressive neurologic involvement Kilich G, Schindewolf E, Maurer K, Jadhav T, Jammihal T, et al., Sullivan K Clinical Immunology Society Annual Meeting Journal of Human Immunity 1 (2025) · doi:10.70962/cis2025abstract.145

Oncology and immuno-oncology

• Peripheral and tumor cytokines in exceptional responders to immunotherapy: results from a phase III trial Saliby RM, Machaalani M, Labaki C, Jammihal T, et al., Shukla SA, Braun DA, Choueiri TK ESMO Congress Annals of Oncology 36, S1304–S1305 (2025)
• Metabolic determinants of exceptional response to immune checkpoint inhibition in renal cell carcinoma Saliby RM, Labaki C, Jammihal T, et al., Choueiri TK, Braun DA ASCO Genitourinary Cancers Symposium Journal of Clinical Oncology 43(5_suppl), 571 (2025)
• AXL receptor tyrosine kinase expression in metastatic renal cell carcinoma: insights from the METEOR trial Laimon YN, Morgan P, Jammihal T, et al., Choueiri TK, Signoretti S USCAP Annual Meeting Laboratory Investigation 105(3), 103064 (2025)
• Determinants of exceptional response to immune checkpoint inhibition in metastatic clear cell renal cell carcinoma Saliby RM, Jammihal T, Labaki C, et al., Shukla SA, Braun DA ESMO Congress Annals of Oncology 34, S1017 (2023) Best Poster, Renal Cancer (Kidney Cancer Association)
• Cross-trial validation of molecular subtypes in patients with metastatic clear cell RCC: the JAVELIN Renal 101 experience Saliby RM*, Jammihal T*, Labaki C, Xie W, Motzer RJ, Powles T, et al., Braun DA, Choueiri TK ASCO Annual Meeting Journal of Clinical Oncology 40(16_suppl), 4531 (2022) · doi:10.1200/JCO.2022.40.16_suppl.4531 Co-first author
• Clonal neoantigen load and tertiary lymphoid structure formation are associated with exceptional response to immune checkpoint inhibition in clear cell renal cell carcinoma Jammihal TR, Saliby RM, Labaki C, McGregor B, El Zarif T, Braun D, et al., Shukla SA Kidney Cancer Research Summit, Philadelphia (2022) Selected oral presentation
• Are the IMmotion151 molecular signatures predictive of treatment outcomes in the JAVELIN Renal 101 trial? Saliby RM*, Jammihal TR*, Labaki C, Xie W, El Zarif T, Motzer R, et al., Braun D Kidney Cancer Research Summit, Philadelphia (2022) Co-first author

Other talks

• Exceptional responder immunogenomics. Research Town Hall, MD Anderson Cancer Center (2022)
• Exceptional responder immunogenomics. New England GU Oncology Young Investigator Forum (2022)