Selected Publications

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.

Maninder Kaur, Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Audrey Lawrence, Jiwoo Kim, Wonwook Do, Benjamin Semeo, Olivia Katz, Devanshi Mehta, Nobuko Yamamoto, Emma Schindler, Zayd Al Rawi, Nina Wallace, Jonathan J. Wilde, Jennifer McCallum, Jinglan Liu, Dongbin Xu, Marie Jackson, Stefan Rentas, Ahmad Abou Tayoun, Zhang Zhe, Omar Abdul-Rahman, Bill Allen, Moris A. Angula, Kwame Anyane-Yeboa, Jesús Argente, Pamela H. Arn, Linlea Armstrong, Lina Basel-Salmon, Gareth Baynam, Lynne M. Bird, Daniel Bruegger, Gaik-Siew Ch'ng, David Chitayat, Robin Clark, Gerald F. Cox, Usha Dave, Elfrede DeBaere, Michael Field, John M. Graham Jr, Karen W. Gripp, Robert Greenstein, Neerja Gupta, Randy Heidenreich, Jodi Hoffman, Robert J. Hopkin, Kenneth L. Jones, Marilyn C. Jones, Ariana Kariminejad, Jillene Kogan, Baiba Lace, Julian Leroy, Sally Ann Lynch, Marie McDonald, Kirsten Meagher, Nancy Mendelsohn, Ieva Micule, John Moeschler, Sheela Nampoothiri, Kaoru Ohashi, Cynthia M. Powell, Subhadra Ramanathan, Salmo Raskin, Elizabeth Roeder, Marlene Rio, Alan F. Rope, Karan Sangha, Angela E. Scheuerle, Adele Schneider, Stavit Shalev, Victoria Siu, Rosemarie Smith, Cathy Stevens, Tinatin Tkemaladze, John Toimie, Helga Toriello, Anne Turner, Patricia G. Wheeler, Susan M. White, Terri Young, Kathleen M. Loomes, Mary Pipan, Ann Tokay Harrington, Elaine Zackai, Ramakrishnan Rajagopalan, Laura Conlin, Matthew A. Deardorff, Deborah McEldrew, Juan Pie, Feliciano Ramos, Antonio Musio, Antonie D. Kline, Kosuke Izumi, Sarah E. Raible, Ian D. Krantz: Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms. American Journal of Medical Genetics Part A 191(8), 2023.

Laura K. Conlin, Erfan Aref-Eshghi, Deborah A. McEldrew, Minjie Luo, Ramakrishnan Rajagopalan: Long‐read sequencing for molecular diagnostics in constitutional genetic disorders. Human Mutation 43(11): 1531-1544, November 2022.

Ramakrishnan Rajagopalan, Deborah McEldrew, Minjie Luo, Laura K. Conlin : Clinical utility of long read sequencing in resolving inconclusive diagnoses due to gene conversions and unknown phase. American Society of Human Genetics Meeting 2021 2021.