Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss
Tanaka, Akemi J., Cho, Megan T., Millan, Francisca, Juusola, Jane, Retterer, Kyle, Joshi, Charuta, Niyazov, Dmitriy, Garnica, Adolfo, Gratz, Edward, Deardorff, Matthew, Wilkins, Alisha, Ortiz-Gonzalez, Xilma, Mathews, Katherine, Panzer, Karin, Brilstra, Eva, van Gassen, Koen L.I., Volker-Touw, Catharina M.L., van Binsbergen, Ellen, Sobreira, Nara, Hamosh, Ada, McKnight, Dianalee, Monaghan, Kristin G., Chung, Wendy K.
Published in American journal of human genetics (03.09.2015)
Published in American journal of human genetics (03.09.2015)
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Journal Article
Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results
Cho, Ahra, Lima de Carvalho, Jr, Jose Ronaldo, Tanaka, Akemi J, Jauregui, Ruben, Levi, Sarah R, Bassuk, Alexander G, Mahajan, Vinit B, Tsang, Stephen H
Published in Orphanet journal of rare diseases (30.01.2020)
Published in Orphanet journal of rare diseases (30.01.2020)
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Journal Article
Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders
Tabansky, Inna, Tanaka, Akemi J., Wang, Jiayao, Zhang, Guanglan, Dujmovic, Irena, Mader, Simone, Jeganathan, Venkatesh, DeAngelis, Tracey, Funaro, Michael, Harel, Asaff, Messina, Mark, Shabbir, Maya, Nursey, Vishaan, DeGouvia, William, Laurent, Micheline, Blitz, Karen, Jindra, Peter, Gudesblatt, Mark, King, Alejandra, Drulovic, Jelena, Yunis, Edmond, Brusic, Vladimir, Shen, Yufeng, Keskin, Derin B., Najjar, Souhel, Stern, Joel N. H.
Published in Frontiers in immunology (04.10.2022)
Published in Frontiers in immunology (04.10.2022)
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Journal Article
Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis
Ragi, Sara D, Lima de Carvalho, Jr, Jose Ronaldo, Tanaka, Akemi J, Park, Karen Sophia, Mahajan, Vinit B, Maumenee, Irene H, Tsang, Stephen H
Published in Cold Spring Harbor molecular case studies (01.12.2019)
Published in Cold Spring Harbor molecular case studies (01.12.2019)
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Journal Article
Recent insights into peroxisome biogenesis and associated diseases
Fujiki, Yukio, Abe, Yuichi, Imoto, Yuuta, Tanaka, Akemi J, Okumoto, Kanji, Honsho, Masanori, Tamura, Shigehiko, Miyata, Non, Yamashita, Toshihide, Chung, Wendy K, Kuroiwa, Tsuneyoshi
Published in Journal of cell science (01.05.2020)
Published in Journal of cell science (01.05.2020)
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Journal Article
Human embryos commonly form abnormal nuclei during development: a mechanism of DNA damage, embryonic aneuploidy, and developmental arrest
Kort, Daniel H., Chia, Gloryn, Treff, Nathan R., Tanaka, Akemi J., Xing, Tongji, Vensand, Lauren Bauer, Micucci, Stephanie, Prosser, Robert, Lobo, Roger A., Sauer, Mark V., Egli, Dieter
Published in Human reproduction (Oxford) (01.02.2016)
Published in Human reproduction (Oxford) (01.02.2016)
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Journal Article
Spectrum of Disease Severity and Phenotype in Choroideremia Carriers
Jauregui, Ruben, Park, Karen Sophia, Tanaka, Akemi J., Cho, Ahra, Paavo, Maarjaliis, Zernant, Jana, Francis, Jasmine H., Allikmets, Rando, Sparrow, Janet R., Tsang, Stephen H.
Published in American journal of ophthalmology (01.11.2019)
Published in American journal of ophthalmology (01.11.2019)
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Journal Article
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
Voisin, Norine, Schnur, Rhonda E., Douzgou, Sofia, Hiatt, Susan M., Rustad, Cecilie F., Brown, Natasha J., Earl, Dawn L., Keren, Boris, Levchenko, Olga, Geuer, Sinje, Verheyen, Sarah, Johnson, Diana, Zarate, Yuri A., Hančárová, Miroslava, Amor, David J., Bebin, E. Martina, Blatterer, Jasmin, Brusco, Alfredo, Cappuccio, Gerarda, Charrow, Joel, Chatron, Nicolas, Cooper, Gregory M., Courtin, Thomas, Dadali, Elena, Delafontaine, Julien, Del Giudice, Ennio, Doco, Martine, Douglas, Ganka, Eisenkölbl, Astrid, Funari, Tara, Giannuzzi, Giuliana, Gruber-Sedlmayr, Ursula, Guex, Nicolas, Heron, Delphine, Holla, Øystein L., Hurst, Anna C.E., Juusola, Jane, Kronn, David, Lavrov, Alexander, Lee, Crystle, Lorrain, Séverine, Merckoll, Else, Mikhaleva, Anna, Norman, Jennifer, Pradervand, Sylvain, Prchalová, Darina, Rhodes, Lindsay, Sanders, Victoria R., Sedláček, Zdeněk, Seebacher, Heidelis A., Sellars, Elizabeth A., Sirchia, Fabio, Takenouchi, Toshiki, Tanaka, Akemi J., Taska-Tench, Heidi, Tønne, Elin, Tveten, Kristian, Vitiello, Giuseppina, Vlčková, Markéta, Uehara, Tomoko, Nava, Caroline, Yalcin, Binnaz, Kosaki, Kenjiro, Donnai, Dian, Mundlos, Stefan, Brunetti-Pierri, Nicola, Chung, Wendy K., Reymond, Alexandre
Published in American journal of human genetics (06.05.2021)
Published in American journal of human genetics (06.05.2021)
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Journal Article
Harnessing the Stem Cell Potential: The path to prevent mitochondrial disease
Tanaka, Akemi J, Sauer, Mark V, Egli, Dieter, Kort, Daniel H
Published in Nature medicine (01.12.2013)
Published in Nature medicine (01.12.2013)
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Journal Article
The path to prevent mitochondrial disease
Tanaka, Akemi J, Sauer, Mark V, Egli, Dieter, Kort, Daniel H
Published in Nature medicine (01.12.2013)
Published in Nature medicine (01.12.2013)
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Journal Article
Quasidominance in autosomal recessive RDH12-Leber congenital amaurosis
Jauregui, Ruben, Cho, Ahra, Xu, Christine L., Tanaka, Akemi J., Sparrow, Janet R., Tsang, Stephen H.
Published in Ophthalmic genetics (03.03.2020)
Published in Ophthalmic genetics (03.03.2020)
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Journal Article
A newly identified mutation in the PEX26 gene is associated with a milder form of Zellweger spectrum disorder
Tanaka, Akemi J, Okumoto, Kanji, Tamura, Shigehiko, Abe, Yuichi, Hirsch, Yoel, Deng, Liyong, Ekstein, Joseph, Chung, Wendy K, Fujiki, Yukio
Published in Cold Spring Harbor molecular case studies (01.02.2019)
Published in Cold Spring Harbor molecular case studies (01.02.2019)
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Journal Article
Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa
Lin, Yuchen, Xu, Christine L., Velez, Gabriel, Yang, Jing, Tanaka, Akemi J., Breazzano, Mark P., Mahajan, Vinit B., Sparrow, Janet R., Tsang, Stephen H.
Published in Documenta ophthalmologica (01.02.2020)
Published in Documenta ophthalmologica (01.02.2020)
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Journal Article
Mononuclear muscle cells in Drosophila ovaries revealed by GFP protein traps
Hudson, Andrew M., Petrella, Lisa N., Tanaka, Akemi J., Cooley, Lynn
Published in Developmental biology (15.02.2008)
Published in Developmental biology (15.02.2008)
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Journal Article
Progressive RPE atrophy and photoreceptor death in KIZ -associated autosomal recessive retinitis pigmentosa
Lin, Yuchen, Xu, Christine L, Breazzano, Mark P, Tanaka, Akemi J, Ryu, Joseph, Levi, Sarah R, Yao, Ke, Sparrow, Janet R, Tsang, Stephen H
Published in Ophthalmic genetics (01.02.2020)
Published in Ophthalmic genetics (01.02.2020)
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Journal Article
De novo mutations in PURA are associated with hypotonia and developmental delay
Tanaka, Akemi J, Bai, Renkui, Cho, Megan T, Anyane-Yeboa, Kwame, Ahimaz, Priyanka, Wilson, Ashley L, Kendall, Fran, Hay, Beverly, Moss, Timothy, Nardini, Monica, Bauer, Mislen, Retterer, Kyle, Juusola, Jane, Chung, Wendy K
Published in Cold Spring Harbor molecular case studies (01.10.2015)
Published in Cold Spring Harbor molecular case studies (01.10.2015)
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Journal Article
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism
Tanaka, Akemi J, Cho, Megan T, Willaert, Rebecca, Retterer, Kyle, Zarate, Yuri A, Bosanko, Katie, Stefans, Vikki, Oishi, Kimihiko, Williamson, Amy, Wilson, Golder N, Basinger, Alice, Barbaro-Dieber, Tina, Ortega, Lucia, Sorrentino, Susanna, Gabriel, Melissa K, Anderson, Ilse J, Sacoto, Maria J Guillen, Schnur, Rhonda E, Chung, Wendy K
Published in Cold Spring Harbor molecular case studies (01.11.2017)
Published in Cold Spring Harbor molecular case studies (01.11.2017)
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Journal Article
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features
Tanaka, Akemi J, Cho, Megan T, Retterer, Kyle, Jones, Julie R, Nowak, Catherine, Douglas, Jessica, Jiang, Yong-Hui, McConkie-Rosell, Allyn, Schaefer, G Bradley, Kaylor, Julie, Rahman, Omar A, Telegrafi, Aida, Friedman, Bethany, Douglas, Ganka, Monaghan, Kristin G, Chung, Wendy K
Published in Cold Spring Harbor molecular case studies (01.01.2016)
Published in Cold Spring Harbor molecular case studies (01.01.2016)
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Journal Article