HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families

Por Imai, Atsuko, Kohda, Masakazu, Nakaya, Akihiro, Sakata, Yasushi, Murayama, Kei, Ohtake, Akira, Lathrop, Mark, Okazaki, Yasushi, Ott, Jurg
Publicado no J Hum Genet (2016)

Homozygosity Mapping on Homozygosity Haplotype Analysis to Detect Recessive Disease-Causing Genes from a Small Number of Unrelated, Outbred Patients

Por Hagiwara, Koichi, Morino, Hiroyuki, Shiihara, Jun, Tanaka, Tomoaki, Miyazawa, Hitoshi, Suzuki, Tomoko, Kohda, Masakazu, Okazaki, Yasushi, Seyama, Kuniaki, Kawakami, Hideshi
Publicado em 2011

Homozygosity Haplotype Allows a Genomewide Search for the Autosomal Segments Shared among Patients

Por Miyazawa, Hitoshi , Kato, Masaaki , Awata, Takuya , Kohda, Masakazu , Iwasa, Hiroyasu , Koyama, Nobuyuki , Tanaka, Tomoaki , Huqun, Kyo, Shunei , Okazaki, Yasushi , Hagiwara, Koichi 
Publicado em 2007

A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data

Por Huqun*, Fukuyama, Shun-ichiro, Morino, Hiroyuki, Miyazawa, Hiroshi, Tanaka, Tomoaki, Suzuki, Tomoko, Kohda, Masakazu, Kawakami, Hideshi, Okazaki, Yasushi, Seyama, Kuniaki, Hagiwara, Koichi
Publicado em 2010

Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction i...

Por Hirono, Keiichi, Ichida, Fukiko, Nishio, Natsuhito, Ogawa‐Tominaga, Minako, Fushimi, Takuya, Feichtinger, Rene′ G., Mayr, Johannes A., Kohda, Masakazu, Kishita, Yoshihito, Okazaki, Yasushi, Ohtake, Akira, Murayama, Kei
Publicado no Clin Case Rep (2019)

A Genome-Wide Association Study for Diabetic Retinopathy in a Japanese Population: Potential Association with a Long Intergenic Non-Coding RNA

Por Awata, Takuya, Yamashita, Hisakuni, Kurihara, Susumu, Morita-Ohkubo, Tomoko, Miyashita, Yumi, Katayama, Shigehiro, Mori, Keisuke, Yoneya, Shin, Kohda, Masakazu, Okazaki, Yasushi, Maruyama, Taro, Shimada, Akira, Yasuda, Kazuki, Nishida, Nao, Tokunaga, Katsushi, Koike, Asako
Publicado no PLoS One (2014)

Correction: A Genome-Wide Association Study for Diabetic Retinopathy in a Japanese Population: Potential Association with a Long Intergenic Non-Coding RNA

Por Awata, Takuya, Yamashita, Hisakuni, Kurihara, Susumu, Morita-Ohkubo, Tomoko, Miyashita, Yumi, Katayama, Shigehiro, Mori, Keisuke, Yoneya, Shin, Kohda, Masakazu, Okazaki, Yasushi, Maruyama, Taro, Shimada, Akira, Yasuda, Kazuki, Nishida, Nao, Tokunaga, Katsushi, Koike, Asako
Publicado no PLoS One (2015)

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

Por Ogawa, Erika, Shimura, Masaru, Fushimi, Takuya, Tajika, Makiko, Ichimoto, Keiko, Matsunaga, Ayako, Tsuruoka, Tomoko, Ishige, Mika, Fuchigami, Tatsuo, Yamazaki, Taro, Mori, Masato, Kohda, Masakazu, Kishita, Yoshihito, Okazaki, Yasushi, Takahashi, Shori, Ohtake, Akira, Murayama, Kei
Publicado no J Inherit Metab Dis (2017)

New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders

Por Uehara, Natsumi, Mori, Masato, Tokuzawa, Yoshimi, Mizuno, Yosuke, Tamaru, Shunsuke, Kohda, Masakazu, Moriyama, Yohsuke, Nakachi, Yutaka, Matoba, Nana, Sakai, Tetsuro, Yamazaki, Taro, Harashima, Hiroko, Murayama, Kei, Hattori, Keisuke, Hayashi, Jun-Ichi, Yamagata, Takanori, Fujita, Yasunori, Ito, Masafumi, Tanaka, Masashi, Nibu, Ken-ichi, Ohtake, Akira, Okazaki, Yasushi
Publicado em 2014

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

Por Kishita, Yoshihito, Pajak, Aleksandra, Bolar, Nikhita Ajit, Marobbio, Carlo M.T., Maffezzini, Camilla, Miniero, Daniela V., Monné, Magnus, Kohda, Masakazu, Stranneheim, Henrik, Murayama, Kei, Naess, Karin, Lesko, Nicole, Bruhn, Helene, Mourier, Arnaud, Wibom, Rolf, Nennesmo, Inger, Jespers, Ann, Govaert, Paul, Ohtake, Akira, Van Laer, Lut, Loeys, Bart L., Freyer, Christoph, Palmieri, Ferdinando, Wredenberg, Anna, Okazaki, Yasushi, Wedell, Anna
Publicado no Am J Hum Genet (2015)

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ(10) Deficiency

Por Brea-Calvo, Gloria, Haack, Tobias B., Karall, Daniela, Ohtake, Akira, Invernizzi, Federica, Carrozzo, Rosalba, Kremer, Laura, Dusi, Sabrina, Fauth, Christine, Scholl-Bürgi, Sabine, Graf, Elisabeth, Ahting, Uwe, Resta, Nicoletta, Laforgia, Nicola, Verrigni, Daniela, Okazaki, Yasushi, Kohda, Masakazu, Martinelli, Diego, Freisinger, Peter, Strom, Tim M., Meitinger, Thomas, Lamperti, Costanza, Lacson, Atilano, Navas, Placido, Mayr, Johannes A., Bertini, Enrico, Murayama, Kei, Zeviani, Massimo, Prokisch, Holger, Ghezzi, Daniele
Publicado no Am J Hum Genet (2015)

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

Por Kohda, Masakazu, Tokuzawa, Yoshimi, Kishita, Yoshihito, Nyuzuki, Hiromi, Moriyama, Yohsuke, Mizuno, Yosuke, Hirata, Tomoko, Yatsuka, Yukiko, Yamashita-Sugahara, Yzumi, Nakachi, Yutaka, Kato, Hidemasa, Okuda, Akihiko, Tamaru, Shunsuke, Borna, Nurun Nahar, Banshoya, Kengo, Aigaki, Toshiro, Sato-Miyata, Yukiko, Ohnuma, Kohei, Suzuki, Tsutomu, Nagao, Asuteka, Maehata, Hazuki, Matsuda, Fumihiko, Higasa, Koichiro, Nagasaki, Masao, Yasuda, Jun, Yamamoto, Masayuki, Fushimi, Takuya, Shimura, Masaru, Kaiho-Ichimoto, Keiko, Harashima, Hiroko, Yamazaki, Taro, Mori, Masato, Murayama, Kei, Ohtake, Akira, Okazaki, Yasushi
Publicado no PLoS Genet (2016)

Constitutively Activated ALK2 and Increased SMAD1/5 Cooperatively Induce Bone Morphogenetic Protein Signaling in Fibrodysplasia Ossificans Progressiva

Por Fukuda, Toru, Kohda, Masakazu, Kanomata, Kazuhiro, Nojima, Junya, Nakamura, Atsushi, Kamizono, Jyunji, Noguchi, Yasuo, Iwakiri, Kiyofumi, Kondo, Takeo, Kurose, Junichi, Endo, Ken-ichi, Awakura, Takeshi, Fukushi, Junichi, Nakashima, Yasuharu, Chiyonobu, Tomohiro, Kawara, Akira, Nishida, Yoshihiro, Wada, Ikuo, Akita, Masumi, Komori, Tetsuo, Nakayama, Konosuke, Nanba, Akira, Maruki, Yuichi, Yoda, Tetsuya, Tomoda, Hiroshi, Yu, Paul B., Shore, Eileen M., Kaplan, Frederick S., Miyazono, Kohei, Matsuoka, Masaru, Ikebuchi, Kenji, Ohtake, Akira, Oda, Hiromi, Jimi, Eijiro, Owan, Ichiro, Okazaki, Yasushi, Katagiri, Takenobu
Publicado em 2009

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Por Desai, Radha, Frazier, Ann E., Durigon, Romina, Patel, Harshil, Jones, Aleck W., Dalla Rosa, Ilaria, Lake, Nicole J., Compton, Alison G., Mountford, Hayley S., Tucker, Elena J., Mitchell, Alice L. R., Jackson, Deborah, Sesay, Abdul, Di Re, Miriam, van den Heuvel, Lambert P., Burke, Derek, Francis, David, Lunke, Sebastian, McGillivray, George, Mandelstam, Simone, Mochel, Fanny, Keren, Boris, Jardel, Claude, Turner, Anne M., Ian Andrews, P., Smeitink, Jan, Spelbrink, Johannes N., Heales, Simon J., Kohda, Masakazu, Ohtake, Akira, Murayama, Kei, Okazaki, Yasushi, Lombès, Anne, Holt, Ian J., Thorburn, David R., Spinazzola, Antonella
Publicado no Brain (2017)

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

Por Haack, Tobias B, Jackson, Christopher B, Murayama, Kei, Kremer, Laura S, Schaller, André, Kotzaeridou, Urania, de Vries, Maaike C, Schottmann, Gudrun, Santra, Saikat, Büchner, Boriana, Wieland, Thomas, Graf, Elisabeth, Freisinger, Peter, Eggimann, Sandra, Ohtake, Akira, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Sauer, Sascha, Memari, Yasin, Kolb-Kokocinski, Anja, Durbin, Richard, Hasselmann, Oswald, Cremer, Kirsten, Albrecht, Beate, Wieczorek, Dagmar, Engels, Hartmut, Hahn, Dagmar, Zink, Alexander M, Alston, Charlotte L, Taylor, Robert W, Rodenburg, Richard J, Trollmann, Regina, Sperl, Wolfgang, Strom, Tim M, Hoffmann, Georg F, Mayr, Johannes A, Meitinger, Thomas, Bolognini, Ramona, Schuelke, Markus, Nuoffer, Jean-Marc, Kölker, Stefan, Prokisch, Holger, Klopstock, Thomas
Publicado no Ann Clin Transl Neurol (2015)

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

Por Feichtinger, René G., Oláhová, Monika, Kishita, Yoshihito, Garone, Caterina, Kremer, Laura S., Yagi, Mikako, Uchiumi, Takeshi, Jourdain, Alexis A., Thompson, Kyle, D’Souza, Aaron R., Kopajtich, Robert, Alston, Charlotte L., Koch, Johannes, Sperl, Wolfgang, Mastantuono, Elisa, Strom, Tim M., Wortmann, Saskia B., Meitinger, Thomas, Pierre, Germaine, Chinnery, Patrick F., Chrzanowska-Lightowlers, Zofia M., Lightowlers, Robert N., DiMauro, Salvatore, Calvo, Sarah E., Mootha, Vamsi K., Moggio, Maurizio, Sciacco, Monica, Comi, Giacomo P., Ronchi, Dario, Murayama, Kei, Ohtake, Akira, Rebelo-Guiomar, Pedro, Kohda, Masakazu, Kang, Dongchon, Mayr, Johannes A., Taylor, Robert W., Okazaki, Yasushi, Minczuk, Michal, Prokisch, Holger
Publicado no Am J Hum Genet (2017)

Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

Por Kopajtich, Robert, Nicholls, Thomas J., Rorbach, Joanna, Metodiev, Metodi D., Freisinger, Peter, Mandel, Hanna, Vanlander, Arnaud, Ghezzi, Daniele, Carrozzo, Rosalba, Taylor, Robert W., Marquard, Klaus, Murayama, Kei, Wieland, Thomas, Schwarzmayr, Thomas, Mayr, Johannes A., Pearce, Sarah F., Powell, Christopher A., Saada, Ann, Ohtake, Akira, Invernizzi, Federica, Lamantea, Eleonora, Sommerville, Ewen W., Pyle, Angela, Chinnery, Patrick F., Crushell, Ellen, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Assouline, Zahra, Rio, Marlène, Feillet, François, Mousson de Camaret, Bénédict, Chretien, Dominique, Munnich, Arnold, Menten, Björn, Sante, Tom, Smet, Joél, Régal, Luc, Lorber, Abraham, Khoury, Asaad, Zeviani, Massimo, Strom, Tim M., Meitinger, Thomas, Bertini, Enrico S., Van Coster, Rudy, Klopstock, Thomas, Rötig, Agnès, Haack, Tobias B., Minczuk, Michal, Prokisch, Holger
Publicado no Am J Hum Genet (2014)

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Por Martin, Carol-Anne, Sarlós, Kata, Logan, Clare V., Thakur, Roshan Singh, Parry, David A., Bizard, Anna H., Leitch, Andrea, Cleal, Louise, Ali, Nadia Shaukat, Al-Owain, Mohammed A., Allen, William, Altmüller, Janine, Aza-Carmona, Miriam, Barakat, Bushra A.Y., Barraza-García, Jimena, Begtrup, Amber, Bogliolo, Massimo, Cho, Megan T., Cruz-Rojo, Jaime, Dhahrabi, Hassan Ali Mundi, Elcioglu, Nursel H., Gorman, Gráinne S., Jobling, Rebekah, Kesterton, Ian, Kishita, Yoshihito, Kohda, Masakazu, Le Quesne Stabej, Polona, Malallah, Asam Jassim, Nürnberg, Peter, Ohtake, Akira, Okazaki, Yasushi, Pujol, Roser, Ramirez, Maria José, Revah-Politi, Anya, Shimura, Masaru, Stevens, Paul, Taylor, Robert W., Turner, Lesley, Williams, Hywel, Wilson, Carolyn, Yigit, Gökhan, Zahavich, Laura, Alkuraya, Fowzan S., Surralles, Jordi, Iglesais, Alejandro, Murayama, Kei, Wollnik, Bernd, Dattani, Mehul, Heath, Karen E., Hickson, Ian D., Jackson, Andrew P.
Publicado no Am J Hum Genet (2018)

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Por Martin, Carol-Anne, Sarlós, Kata, Logan, Clare V., Thakur, Roshan Singh, Parry, David A., Bizard, Anna H., Leitch, Andrea, Cleal, Louise, Ali, Nadia Shaukat, Al-Owain, Mohammed A., Allen, William, Altmüller, Janine, Aza-Carmona, Miriam, Barakat, Bushra A.Y., Barraza-García, Jimena, Begtrup, Amber, Bogliolo, Massimo, Cho, Megan T., Cruz-Rojo, Jaime, Dhahrabi, Hassan Ali Mundi, Elcioglu, Nursel H., Gorman, Gráinne S., Jobling, Rebekah, Kesterton, Ian, Kishita, Yoshihito, Kohda, Masakazu, Le Quesne Stabej, Polona, Malallah, Asam Jassim, Nürnberg, Peter, Ohtake, Akira, Okazaki, Yasushi, Pujol, Roser, Ramirez, Maria José, Revah-Politi, Anya, Shimura, Masaru, Stevens, Paul, Taylor, Robert W., Turner, Lesley, Williams, Hywel, Wilson, Carolyn, Yigit, Gökhan, Zahavich, Laura, Alkuraya, Fowzan S., Surralles, Jordi, Iglesias, Alejandro, Murayama, Kei, Wollnik, Bernd, Dattani, Mehul, Heath, Karen E., Hickson, Ian D., Jackson, Andrew P.
Publicado no Am J Hum Genet (2018)