Placental Malperfusion Is Associated With Adverse Outcomes in Congenital Heart Disease and With Genetic Variants in Placental Developmental Pathways

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*, JACC 86(19): , 2025

Mastering genetics for your clinic: A step-by-step guide.

Schindewolf E, Kilich G, Westerfer D, Vandergrift D, Rajagopalan R, Sullivan KE., J Allergy Clin Immunol., 2025, PMID:40789456

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An Unusual Cause of Hexokinase 1 Deficiency-Case Report.

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., EJHaem, 2025

Advancing mitochondrial DNA analysis: Utility of PacBio long-read sequencing technology in accurate and precise variant detection

Jadhav T, Aruta M, Conlin LK, Rajagopalan R, Wang J, American Society of Human Genetics Meeting 2024, 2024

Diagnosing the Undiagnosed​: Lessons from a large heterogeneous cohort of patients with Cornelia deLange and related diagnoses​

Ramakrishnan Rajagopalan, Tejas Jammihal, Tanaya Jadhav, Maninder Kaur, Justin Blair, Sarah Raible, Laura K. Conlin, Ian D. Krantz, American Society of Human Genetics Meeting 2024, 2024

Development, Implementation, and Preliminary Results of Rapid Targeted Genomic Analysis in the Newborn Period

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., American College of Medical Genetics Meeting 2024, 2024

Kagami Ogata syndrome: a small deletion refines critical hierarchy for imprinting

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, NPJ Genom Med. 9(5): , 2024, PMID:38212313

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Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation

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, American Journal of Human Genetics 111(8): , 2024, PMID:39043182

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Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield

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, The Journal of Pediatrics 262(): , 2023, PMID:37473993

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Maximizing the Detection of Copy Number Variants in the Highly Homologous Deafness-Infertility Syndrome Locus in Standard-of-care Testing

Minjie Luo, Laura K Conlin, Ramakrishnan Rajagopalan, Clinical Chemistry 69(6): , 2023, PMID:37170750

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