Selected Publications

Rebecca Josowitz, MD, PHD, Stacy Woyciechowski, MS, Tanaya Jadhav, MS, Tejas Jammihal, MS, Rebecca L. Linn, MD, Jack Rychik, MD, J. William Gaynor, MD, Ramakrishnan Rajagopalan, PHD*, Nancy B. Spinner, PHD*: Placental Malperfusion Is Associated With Adverse Outcomes in Congenital Heart Disease and With Genetic Variants in Placental Developmental Pathways. JACC 86(19), Nov 2025.

Schindewolf E, Kilich G, Westerfer D, Vandergrift D, Rajagopalan R, Sullivan KE.: Mastering genetics for your clinic: A step-by-step guide. J Allergy Clin Immunol. August 2025.

Kilich G, Maurer K, Jadhav T, Jammihal T, Zhang Z, Hartung H, Izumi K, Hassey K, Raper A, Schindewolf E, Conlin L, Ganetzky R, Li M, Glader B, Rajagopalan R, Sullivan KE.: An Unusual Cause of Hexokinase 1 Deficiency-Case Report. EJHaem August 2025.

Jadhav T, Aruta M, Conlin LK, Rajagopalan R, Wang J: Advancing mitochondrial DNA analysis: Utility of PacBio long-read sequencing technology in accurate and precise variant detection. American Society of Human Genetics Meeting 2024 October 2024.

Ramakrishnan Rajagopalan, Tejas Jammihal, Tanaya Jadhav, Maninder Kaur, Justin Blair, Sarah Raible, Laura K. Conlin, Ian D. Krantz: Diagnosing the Undiagnosed​: Lessons from a large heterogeneous cohort of patients with Cornelia deLange and related diagnoses​ American Society of Human Genetics Meeting 2024 October 2024.

Bedoukian, EC, Reichert S, Conlin L, Dechene E, Dulik M, Heck A, Hershey J; Marchese M, McManus M, Mulchandani S, Rajagopalan R, Reynoso S, Francis J, Wild T, Wood KH, Krantz ID, Spinner NB.: Development, Implementation, and Preliminary Results of Rapid Targeted Genomic Analysis in the Newborn Period American College of Medical Genetics Meeting 2024 March 2024.

Gonench Kilich, Kelly Hassey, Edward M Behrens, Marni Falk, Adeline Vanderver, Daniel J Rader, Patrick J Cahill, Anna Raper, Zhe Zhang, Dawn Westerfer, Tanaya Jadhav, Laura Conlin, Kosuke Izumi, Ramakrishnan Rajagopalan, Kathleen E Sullivan : Kagami Ogata syndrome: a small deletion refines critical hierarchy for imprinting. NPJ Genom Med. 9(5), Jan 2024.

Gilbert MA, Keefer-Jacques E, Jadhav T, Antfolk D, Ming Q, Valente N, Shaw GT, Sottolano CJ, Matwijec G, Luca VC, Loomes KM, Rajagopalan R, Hayeck TJ, Spinner NB: Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation. American Journal of Human Genetics 111(8), 2024.

Nobuko Yamamoto, Jorune Balciuniene, Tiffiney Hartman, Maria Alejandra Diaz-Miranda, Emma Bedoukian, Batsal Devkota, Audrey Lawrence, Netta Golenberg, Maha Patel, Archana Tare, Robert Chen, Emma Schindler, Jiwon Choi, Maninder Kaur, Sarah Charles, Jiani Chen, Elizabeth A Fanning, Elizabeth Dechene, Kajia Cao, Murrell R Jill, Ramakrishnan Rajagopalan, Yavuz Bayram, Matthew C Dulik, John Germiller, Laura K Conlin, Ian D Krantz, Minjie Luo: Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield. The Journal of Pediatrics 262, July 2023.

Minjie Luo, Laura K Conlin, Ramakrishnan Rajagopalan: Maximizing the Detection of Copy Number Variants in the Highly Homologous Deafness-Infertility Syndrome Locus in Standard-of-care Testing. Clinical Chemistry 69(6), 2023.