ZMIZ1::ABL1 Fusion: An Uncommon Molecular Event With Clinical Implications in Pediatric Cancer.

Authors: Booth, Kevin T. A.¹, Schulte, Rachael R.^2,3, Smith, Laurin¹, Hongyu Gao⁴, Stohler, Ryan A.¹, Yunlong Liu⁴, Reshmi, Shalini C.^5,6, Vance, Gail H.^1,7 ghvance@iu.edu

Source: Archives of Pathology & Laboratory Medicine. Feb2025, Vol. 149 Issue 2, p159-164. 6p.

Subject Terms: *TUMORS in children, *STRUCTURAL models, *CHROMOSOME abnormalities, *TRANSCRIPTION factors, *KARYOTYPES, *FLUORESCENCE in situ hybridization, *MOLECULAR structure, *LYMPHOBLASTIC leukemia, *GENETIC testing, *SEQUENCE analysis, BONE marrow examination

The auditory midbrain mediates tactile vibration sensing

Authors: Huey, Erica L. ^{1, 2}, Turecek, Josef ^{1, 2}, Delisle, Michelle M. ^{1, 2}, Mazor, Ofer ¹, Romero, Gabriel E. ¹, Dua, Malvika ^{1, 2}, Sarafis, Zoe K. ^{1, 2}, Hobble, Alexis ^{1, 2}, Booth, Kevin T. ¹, Goodrich, Lisa V. ¹, Corey, David P. ¹, Ginty, David D. ^{1, 2, 3, ∗}

Source: In Cell 9 January 2025 188(1):104-120

LandCoverNet: A global benchmark land cover classification training dataset

Authors: Alemohammad, Hamed, Booth, Kevin

Subject Terms: Computer Science - Computer Vision and Pattern Recognition, Computer Science - Machine Learning

Access URL: http://arxiv.org/abs/2012.03111

Biochemical and molecular confirmation of alkaptonuria in a Sumatran orangutan (Pongo abelii)

Authors: Fayette, Melissa A., Booth, Kevin T.A., Lynnes, Ty C., Luna, Carolina, Minich, David J., Wilson, Theodore E., Miller, Marcus J.

Source: In Molecular Genetics and Metabolism July 2023 139(3)

Expanding the phenotypic spectrum of COLEC10‐Related 3MC syndrome: A glimpse into COLEC10‐Related 3MC syndrome in the Ashkenazi Jewish population

Authors: Rabin, Rachel, Hirsch, Yoel, Chung, Wendy K., Ekstein, Josef, Levy‐Lahad, Ephrat, Zuckerman, Shachar, Mor‐Shaked, Hagar, Meiner, Vardiella, Booth, Kevin T., Pappas, John

Source: American journal of medical genetics.Part A. 188(10):3110-3117

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100166440869.0x000001&indx=1&recIds=ETOCvdc_100166440869.0x000001

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time

Authors: Tayoun, Abou, Koleilat, Alaa, Chapin, Alexander, Aburayyan, Amal, Oza, Andrea, Giersch, Anne B., Pandya, Arti, Vona, Barbara, Dorshorst, Ben, Choi, Byung Yoon, Charfeddine, Cherine, Morton, Cynthia, Bai, Donglin, Broeren, Ellie, Edoh, Enyonam, Bademci, Guney, He, Haixian, Duzkale, Hatice, Rehm, Heidi, Azaiez, Hela, Mutai, Hideki, Xu, Hongen, Castillo, Ignacio del, Roux, Isabelle, Schrauwen, Isabelle, Xiang, Jiale, Alexander, John, Ratliff, Julie, Shen, Jun, Zhang, Junyu, Paris, Kelley, Booth, Kevin, Tshering, Kezang, Nara, Kiyomitsu, Poon, Kok Siong, Kernohan, Kristin, Gallagher, Lauren, Downie, Lilian, Schimmenti, Lisa, Hosoya, Makoto, Kenna, Margaret, DiStefano, Marina, Morin, Matias, Moreno-Pelayo, Miguel Angel, Luo, Minjie, Lewis, Morag, Tekin, Mustafa, Rendtorff, Nanna D., Robertson, Pamela Ajuyah, Buonfiglio, Paula, Guan, Qiaoning, Faridi, Rabia, Mkaouar, Rahma, Smith, Richard, Webb, Ryan, Amr, Sami, Homurlu, Seda Nur, Redfield, Shelby, Shaaban, Sherin, Usami, Shin-ichi, Nishio, Shin-ya, Matsunaga, Tatsuo, Sivakumaran, Theru, Friedman, Thomas, Gitau, Vanessa, Albano, Victoria, Siu, Victoria, Dalamon, Viviana, Lu, Yu, Brownstein, Zippi, Ahmed, Zubair, Tshering, Kezang C. ¹, DiStefano, Marina T. ^{1, 2}, Oza, Andrea M. ¹, Ajuyah, Pamela ¹, Aburyyan, Amal ³, Booth, Kevin T.A. ^{7, 8}, Buonfiglio, Paula I. ⁹, Dalamón, Viviana ⁹, Lewis, Morag A. ¹⁷, Schimmenti, Lisa A. ²³, Smith, Richard J. ³⁰, Rehm, Heidi L. ^{1, 2}, Abou Tayoun, Ahmad N. ^{31, 32}, Amr, Sami S. ^{2, ∗}

Source: In Genetics in Medicine February 2025

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

Authors: Patel, Mayher J., DiStefano, Marina T., Oza, Andrea M., Hughes, Madeline Y., Wilcox, Emma H., Hemphill, Sarah E., Cushman, Brandon J., Grant, Andrew R., Siegert, Rebecca K., Shen, Jun, Chapin, Alex, Boczek, Nicole J., Schimmenti, Lisa A., Nara, Kiyomitsu, Kenna, Margaret, Azaiez, Hela, Booth, Kevin T., Avraham, Karen B., Kremer, Hannie, Griffith, Andrew J., Rehm, Heidi L., Amr, Sami S., Tayoun, Ahmad N. Abou, Abdelhak, Sonia, Alexander, John, Brownstein, Zippora, Burt, Rachel, Choi, Byung Yoon, Downie, Lilian, Friedman, Thomas, Giersch, Anne, Greinwald, John, Holt, Jeffrey, Hosoya, Makoto, Kim, Un-Kyung, Krantz, Ian, Leal, Suzanne, Masmoudi, Saber, Matsunaga, Tatsuo, Morín, Matías, Morton, Cynthia, Mutai, Hideki, Pandya, Arti, Smith, Richard, Tekin, Mustafa, Usami, Shin-Ichi, Van Camp, Guy, Yamazawa, Kazuki, Yuan, Hui-Jun, Black-Zeigelbein, Elizabeth, Zhang, Kejian

Source: In Genetics in Medicine November 2021 23(11):2208-2212

Determining the AC susceptibility of thin metal films using the anisotropic magnetoresistance

Authors: Booth, Kevin, Gray, Isaiah, Dan Dahlberg, E.

Source: In Journal of Magnetism and Magnetic Materials 1 April 2021 523

Exome sequencing utility in defining the genetic landscape of hearing loss and novel‐gene discovery in Iran

Authors: Mohseni, Marzieh, Babanejad, Mojgan, Booth, Kevin T., Jamali, Payman, Jalalvand, Khadijeh, Davarnia, Behzad, Ardalani, Fariba, Khoshaeen, Atefeh, Arzhangi, Sanaz, Ghodratpour, Fatemeh, Beheshtian, Maryam, Jahanshad, Faezeh, Otukesh, Hasan, Bahrami, Fatemeh, Seifati, Seyed Morteza, Bazazzadegan, Niloofar, Habibi, Farkhonde, Behravan, Hanieh, Mirzaei, Sepide, Keshavarzi, Fatemeh, Nikzat, Nooshin, Mehrjoo, Zohreh, Thiele, Holger, Nothnagel, Michael, Azaiez, Hela, Smith, Richard J., Kahrizi, Kimia, Najmabadi, Hossein

Source: Clinical genetics. 100(1):59-78

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100122583826.0x000001&indx=1&recIds=ETOCvdc_100122583826.0x000001

A change of pace

Authors: Booth, Kevin, Nixon, Mark

Source: BAR international series. 3066:153-162

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN628843271&indx=1&recIds=ETOCRN628843271

79 The functional consequence of two CFI ultra rare variants in complement-mediated diseases: Insights from in vitro splicing assay

Authors: Heinen, Cobey, Azaiez, Hela, Booth, Kevin, Nester, Carla, Smith, Richard, Zhang, Yuzhou

Source: Immunobiology. 228(5)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100195973287.0x000001&indx=1&recIds=ETOCvdc_100195973287.0x000001

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

Authors: Shen, Jun, Oza, Andrea M., del Castillo, Ignacio, Duzkale, Hatice, Matsunaga, Tatsuo, Pandya, Arti, Kang, Hyunseok P., Mar-Heyming, Rebecca, Guha, Saurav, Moyer, Krista, Lo, Christine, Kenna, Margaret, Alexander, John J., Zhang, Yan, Hirsch, Yoel, Luo, Minjie, Cao, Ye, Wai Choy, Kwong, Cheng, Yen-Fu, Avraham, Karen B., Hu, Xinhua, Garrido, Gema, Moreno-Pelayo, Miguel A., Greinwald, John, Zhang, Kejian, Zeng, Yukun, Brownstein, Zippora, Basel-Salmon, Lina, Davidov, Bella, Frydman, Moshe, Weiden, Tzvi, Nagan, Narasimhan, Willis, Alecia, Hemphill, Sarah E., Grant, Andrew R., Siegert, Rebecca K., DiStefano, Marina T., Amr, Sami S., Rehm, Heidi L., Abou Tayoun, Ahmad N., Azaiez, Hela, Booth, Kevin T., Smith, Richard J., Giersch, Anne B., Morton, Cynthia C., Liu, Xue Z., Tekin, Mustafa, Lu, Yu, Yuan, Huijun, Mutai, Hideki, Schimmenti, Lisa

Source: In Genetics in Medicine November 2019 21(11):2442-2452

ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

Authors: DiStefano, Marina T., Hemphill, Sarah E., Oza, Andrea M., Siegert, Rebecca K., Grant, Andrew R., Hughes, Madeline Y., Cushman, Brandon J., Azaiez, Hela, Booth, Kevin T., Chapin, Alex, Duzkale, Hatice, Matsunaga, Tatsuo, Shen, Jun, Zhang, Wenying, Kenna, Margaret, Schimmenti, Lisa A., Tekin, Mustafa, Rehm, Heidi L., Tayoun, Ahmad N. Abou, Amr, Sami S., Abdelhak, Sonia, Alexander, John, Avraham, Karen, Bhatia, Neha, Bai, Donglin, Boczek, Nicole, Brownstein, Zippora, Burt, Rachel, Bylstra, Yasmin, del Castillo, Ignacio, Choi, Byung Yoon, Downie, Lilian, Friedman, Thomas, Giersch, Anne, Goh, Jasmine, Greinwald, John, Griffith, Andrew J., Hernandez, Amy, Holt, Jeffrey, Hosoya, Makoto, Ying, Lim Jiin, Jain, Kanika, Kim, Un-Kyung, Kremer, Hannie, Krantz, Ian, Leal, Suzanne, Lewis, Morag, Liu, Xue Zhong, Low, Wendy, Lu, Yu, Luo, Minjie, Masmoudi, Saber, Ming, Tan Yuen, Moreno-Pelayo, Miguel Angel, Morín, Matías, Morton, Cynthia, Murray, Jaclyn, Mutai, Hideki, Nara, Kiyomitsu, Pandya, Arti, Pei-Rong, Sylvia Kam, Smith, Richard J.H., Jamuar, Saumya Shekhar, Suer, Funda Elif, Usami, Shin-Ichi, Van Camp, Guy, Yamazawa, Kazuki, Yuan, Hui-Jun, Black-Zeigelbein, Elizabeth, Zhang, Keijan

Source: In Genetics in Medicine October 2019 21(10):2239-2247

Defective Tmprss3-Associated Hair Cell Degeneration in Inner Ear Organoids

Authors: Tang, Pei-Ciao, Alex, Alpha L., Nie, Jing, Lee, Jiyoon, Roth, Adam A., Booth, Kevin T., Koehler, Karl R., Hashino, Eri, Nelson, Rick F.

Source: In Stem Cell Reports 9 July 2019 13(1):147-162

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37

Authors: Booth, Kevin T., Askew, James W., Talebizadeh, Zohreh, Huygen, Patrick L.M., Eudy, James, Kenyon, Judith, Hoover, Denise, Hildebrand, Michael S., Smith, Katherine R., Bahlo, Melanie, Kimberling, William J., Smith, Richard J.H., Azaiez, Hela, Smith, Shelley D.

Source: In Genetics in Medicine April 2019 21(4):948-954

Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss

Authors: Booth, Kevin T., Ghaffar, Amama, Rashid, Muhammad, Hovey, Luke T., Hussain, Mureed, Frees, Kathy, Renkes, Erika M., Nishimura, Carla J., Shahzad, Mohsin, Smith, Richard J., Ahmed, Zubair, Azaiez, Hela, Riazuddin, Saima

Source: Human genetics. 139(12):1565-1574

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100175984698.0x000001&indx=1&recIds=ETOCvdc_100175984698.0x000001

A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations

Authors: Walls, W. Daniel, Moteki, Hideaki, Thomas, Taylor R., Nishio, Shin-ya, Yoshimura, Hidekane, Iwasa, Yoichiro, Frees, Kathy L., Nishimura, Carla J., Azaiez, Hela, Booth, Kevin T., Marini, Robert J., Kolbe, Diana L., Weaver, A. Monique, Schaefer, Amanda M., Wang, Kai, Braun, Terry A., Usami, Shin-ichi, Barr-Gillespie, Peter G., Richardson, Guy P., Smith, Richard J., Casavant, Thomas L.

Source: Human genetics. 139(10):1315-1323

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100167978753.0x000001&indx=1&recIds=ETOCvdc_100167978753.0x000001

Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss

Authors: Stiff, Heather A., Sloan-Heggen, Christina M., Ko, Ashley, Pfeifer, Wanda L., Kolbe, Diana L., Nishimura, Carla J., Frees, Kathy L., Booth, Kevin T., Wang, Donghong, Weaver, Amy E., Azaiez, Hela, Kamholz, John, Smith, Richard J. H., Drack, Arlene V.

Source: Ophthalmic genetics. 41(2):151-158

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100111350034.0x000001&indx=1&recIds=ETOCvdc_100111350034.0x000001

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes

Authors: Azaiez, Hela, Booth, Kevin T., Ephraim, Sean S., Crone, Bradley, Black-Ziegelbein, Elizabeth A., Marini, Robert J., Shearer, A. Eliot, Sloan-Heggen, Christina M., Kolbe, Diana, Casavant, Thomas, Schnieders, Michael J., Nishimura, Carla, Braun, Terry, Smith, Richard J.H.

Source: In The American Journal of Human Genetics 4 October 2018 103(4):484-497

P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature

Authors: Booth, Kevin, Jangam, Sharayu, Man Chun Chui, Martin, Treat, Kayla, Graziani, Lorenzo, Soldano, Alessia, White, Kerry, Christensen, Celanie, Lynnes, Ty, Yamamoto, Shinya, Kanca, Oguz, Tsang, Mandy, Lynch, Sally, Mullegama, Sureni, Baptista, Julia, Iancu, Daniela, Joss, Shelag, CY Mak, Christopher, Kwong, Anna, Bellen, Hugo, Conboy, Erin, Sanges, Remo, Wangler, Michael F., Hon-Yin Chung, Brian, Vetrini, Francesco

Source: In Genetics in Medicine Open 2024 2 Supplement 1