Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients

• Minako Mori,
• Asuka Hira,
• Kenichi Yoshida,
• Hideki Muramatsu,
• Yusuke Okuno,
• Yuichi Shiraishi,
• Michiko Anmae,
• Jun Yasuda,
• Shu Tadaka,
• Kengo Kinoshita,
• Tomoo Osumi,
• Yasushi Noguchi,
• Souichi Adachi,
• Ryoji Kobayashi,
• Hiroshi Kawabata,
• Kohsuke Imai,
• Tomohiro Morio,
• Kazuo Tamura,
• Akifumi Takaori-Kondo,
• Masayuki Yamamoto,
• Satoru Miyano,
• Seiji Kojima,
• Etsuro Ito,
• Seishi Ogawa,
• Keitaro Matsuo,
• Hiromasa Yabe,
• Miharu Yabe,
• Minoru Takata

Affiliations

Minako Mori

Laboratory of DNA Damage Signaling, Department of Late Effects Studies, Radiation Biology Center, Graduate School of Biostudies, Kyoto University, Kyoto, Japan;Department of Hematology and Oncology, Graduate School of Medicine, Kyoto University, Kyoto, Japan

Asuka Hira

Laboratory of DNA Damage Signaling, Department of Late Effects Studies, Radiation Biology Center, Graduate School of Biostudies, Kyoto University, Kyoto, Japan

Kenichi Yoshida

Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan

Hideki Muramatsu

Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan

Yusuke Okuno

Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan

Yuichi Shiraishi

Laboratory of DNA Information Analysis, Human Genome Center, The Institute of Medical Science, University of Tokyo, Tokyo Japan

Michiko Anmae

Medical Genetics Laboratory, Graduate School of Science and Engineering, Kindai University, Osaka, Japan

Jun Yasuda

Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan

Shu Tadaka

Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan

Kengo Kinoshita

Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan;Department of Applied Information Sciences, Graduate School of Information Sciences, Tohoku University, Sendai, Japan;Institute of Development, Aging, and Cancer, Tohoku University, Sendai, Japan

Tomoo Osumi

Children’s Cancer Center, National Center for Child Health and Development, Tokyo, Japan

Yasushi Noguchi

Department of Pediatrics, Japanese Red Cross Narita Hospital, Chiba, Japan

Souichi Adachi

Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan

Ryoji Kobayashi

Department of Pediatrics and Adolescence, Sapporo Hokuyu Hospital, Sapporo, Japan

Hiroshi Kawabata

Department of Hematology and Immunology, Kanazawa Medical University, Uchinada-machi, Japan

Kohsuke Imai

Department of Community Pediatrics, Perinatal and Maternal Medicine, Tokyo Medical and Dental University, Tokyo, Japan

Tomohiro Morio

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan

Kazuo Tamura

Medical Genetics Laboratory, Graduate School of Science and Engineering, Kindai University, Osaka, Japan

Akifumi Takaori-Kondo

Department of Hematology and Oncology, Graduate School of Medicine, Kyoto University, Kyoto, Japan

Masayuki Yamamoto

Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan;Department of Medical Biochemistry, Graduate School of Medicine, Tohoku University, Sendai, Japan

Satoru Miyano

Laboratory of DNA Information Analysis, Human Genome Center, The Institute of Medical Science, University of Tokyo, Tokyo Japan

Seiji Kojima

Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan

Etsuro Ito

Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan

Seishi Ogawa

Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan;Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institute, Stockholm, Sweden

Keitaro Matsuo

Division of Molecular and Clinical Epidemiology, Aichi Cancer Center Research Institute, Nagoya, Japan

Hiromasa Yabe

Department of Innovative Medical Science, Tokai University School of Medicine, Isehara, Kanagawa, Japan

Miharu Yabe

Department of Innovative Medical Science, Tokai University School of Medicine, Isehara, Kanagawa, Japan

Minoru Takata

Laboratory of DNA Damage Signaling, Department of Late Effects Studies, Radiation Biology Center, Graduate School of Biostudies, Kyoto University, Kyoto, Japan