Recurrent missense variant identified in two unrelated families with MPZL2‐related hearing loss, expanding the variant spectrum associated with DFNB111
Lo, Emma, Blair, Justin, Yamamoto, Nobuko, Diaz‐Miranda, Maria Alejandra, Bedoukian, Emma, Gray, Christopher, Lawrence, Audrey, Dedhia, Kavita, Elden, Lisa M., Germiller, John A., Kazahaya, Ken, Sobol, Steven E., Luo, Minjie, Krantz, Ian D., Hartman, Tiffiney R.
Published in American journal of medical genetics. Part A (01.05.2024)
Published in American journal of medical genetics. Part A (01.05.2024)
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Journal Article
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss
Chen, Robert, Diaz‐Miranda, Maria Alejandra, Aref‐Eshghi, Erfan, Hartman, Tiffiney R., Griffith, Christopher, Morrison, Jennifer L., Wheeler, Patricia G., Torti, Erin, Richard, Gabriele, Kenna, Margaret, Dechene, Elizabeth T., Spinner, Nancy B., Bai, Renkui, Conlin, Laura K., Krantz, Ian D., Amr, Sami S., Luo, Minjie
Published in Human mutation (01.12.2022)
Published in Human mutation (01.12.2022)
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P581: Multiple mitochondrial DNA deletions in patients with myopathy
Wang, Jing, Chan, Ada, Peterson, James, Wood, Kathleen, Diaz-Miranda, Maria Alejandra, Tara, Archana, Goldstein, Amy, Zolkipli-Cunningham, Zarazuela, McCormick, Elizabeth M., Muraresku, Colleen, Dulik, Matthew, Wallace, Douglas, Falk, Marni
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield
Yamamoto, Nobuko, Balciuniene, Jorune, Hartman, Tiffiney, Diaz-Miranda, Maria Alejandra, Bedoukian, Emma, Devkota, Batsal, Lawrence, Audrey, Golenberg, Netta, Patel, Maha, Tare, Archana, Chen, Robert, Schindler, Emma, Choi, Jiwon, Kaur, Maninder, Charles, Sarah, Chen, Jiani, Fanning, Elizabeth A., Dechene, Elizabeth, Cao, Kajia, Jill, Murrell R., Rajagopalan, Ramakrishnan, Bayram, Yavuz, Dulik, Matthew C., Germiller, John, Conlin, Laura K., Krantz, Ian D., Luo, Minjie
Published in The Journal of pediatrics (01.11.2023)
Published in The Journal of pediatrics (01.11.2023)
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Advanced approaches for comprehensive mtDNA testing of mitochondrial disorders
Wang, Jing, Diaz-Miranda, Maria Alejandra, Balciuniene, Jorune, Ayaraman, Pushkala, Jung, Hou-Sung, Troiani, Juliana, Moseley, Alicia, Fan, Zhiqian, McCormick, Elizabeth, Wallace, Douglas, Falk, Marni, Dulik, Matthew
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
OP332 - Advanced approaches for comprehensive mtDNA testing of mitochondrial disorders
Wang, Jing, Diaz-Miranda, Maria Alejandra, Balciuniene, Jorune, Ayaraman, Pushkala, Jung, Hou-Sung, Troiani, Juliana, Moseley, Alicia, Fan, Zhiqian, McCormick, Elizabeth, Wallace, Douglas, Falk, Marni, Dulik, Matthew
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease
Wang, Jing, Balciuniene, Jorune, Diaz-Miranda, Maria Alejandra, McCormick, Elizabeth M., Aref-Eshghi, Erfan, Muir, Alison M., Cao, Kajia, Troiani, Juliana, Moseley, Alicia, Fan, Zhiqian, Zolkipli-Cunningham, Zarazuela, Goldstein, Amy, Ganetzky, Rebecca D., Muraresku, Colleen C., Peterson, James T., Spinner, Nancy B., Wallace, Douglas C., Dulik, Matthew C., Falk, Marni J.
Published in Molecular genetics and metabolism (01.01.2022)
Published in Molecular genetics and metabolism (01.01.2022)
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