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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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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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

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, American Journal of Medical Genetics Part A 191(8): , 2023, PMID:37377026

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Long‐read sequencing for molecular diagnostics in constitutional genetic disorders

Laura K. Conlin, Erfan Aref-Eshghi, Deborah A. McEldrew, Minjie Luo, Ramakrishnan Rajagopalan, Human Mutation 43(11): 1531-1544, 2022, PMID:36086952

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Clinical utility of long read sequencing in resolving inconclusive diagnoses due to gene conversions and unknown phase

Ramakrishnan Rajagopalan, Deborah McEldrew, Minjie Luo, Laura K. Conlin, American Society of Human Genetics Meeting 2021, 2021

Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results

Rajagopalan R*, Gilbert MA*, McEldrew DA, Nassur JA, Loomes KM, Piccoli DA, Krantz ID, Conlin LK, Spinner NB, Genetics In Medicine 23(2): 323-330, 2021

A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data,

Rajagopalan R, Murrell JR, Luo M, Conlin LK., Genome Medicine 12(1): 14, 2020

Exome sequencing in individuals with isolated Biliary Atresia

Rajagopalan R, Tsai EA, Grochowski CM, Kelly SM, Loomes KM, Spinner NB, Devoto M, Scientific Reports 10(2709): , 2020

Impaired redox and protein homeostasis as risk factors and therapeutic targets in toxin-induced biliary atresia

Zhao X, Lorent K, Escobar-Zarate D, Rajagopalan R, Loomes KM, Gillespie K, Mesaros C, Estrada MA, Blair I, Winkler JD, Spinner NB, Devoto M, Pack MA., Gastroenterology 159(3): 1068-1084, 2020