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- [21] Long read sequencing of patient-parent trios with intellectual disabilityEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1706 - 1707Gilissen, C.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Nijmegen, NetherlandsWenger, A. M.论文数: 0 引用数: 0 h-index: 0机构: Pacific Biosci, Menlo Pk, CA USA Radboud Univ Nijmegen, Med Ctr, Nijmegen, NetherlandsPauper, M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlandsvan de Vorst, M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Nijmegen, NetherlandsYauy, K.论文数: 0 引用数: 0 h-index: 0机构: CHU Montpellier, Montpellier, France Radboud Univ Nijmegen, Med Ctr, Nijmegen, NetherlandsKucuk, E.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Nijmegen, NetherlandsKwint, M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Nijmegen, NetherlandsNelen, M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Nijmegen, NetherlandsNeveling, K.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Nijmegen, NetherlandsBaybayan, P.论文数: 0 引用数: 0 h-index: 0机构: Pacific Biosci, Menlo Pk, CA USA Radboud Univ Nijmegen, Med Ctr, Nijmegen, NetherlandsHickey, L.论文数: 0 引用数: 0 h-index: 0机构: Pacific Biosci, Menlo Pk, CA USA Radboud Univ Nijmegen, Med Ctr, Nijmegen, NetherlandsKorlach, J.论文数: 0 引用数: 0 h-index: 0机构: Pacific Biosci, Menlo Pk, CA USA Radboud Univ Nijmegen, Med Ctr, Nijmegen, NetherlandsBrunner, H. G.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands Maastricht Univ, Med Ctr, Maastricht, Netherlands Radboud Univ Nijmegen, Med Ctr, Nijmegen, NetherlandsVissers, L. E. L. M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Nijmegen, NetherlandsHoischen, A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands
- [22] Benchmarking of long-read correction methodsNAR GENOMICS AND BIOINFORMATICS, 2020, 2 (02)Dohm, Juliane C.论文数: 0 引用数: 0 h-index: 0机构: Univ Life Sci & Nat Resources, Inst Computat Biol, Dept Biotechnol, Vienna BOKU, Muthgasse 18, A-1190 Vienna, Austria Univ Life Sci & Nat Resources, Inst Computat Biol, Dept Biotechnol, Vienna BOKU, Muthgasse 18, A-1190 Vienna, AustriaPeters, Philipp论文数: 0 引用数: 0 h-index: 0机构: Univ Life Sci & Nat Resources, Inst Computat Biol, Dept Biotechnol, Vienna BOKU, Muthgasse 18, A-1190 Vienna, Austria Vienna BioCtr Core Facil, Next Generat Sequencing Facil, Dr Bohr Gasse 3, A-1030 Vienna, Austria Univ Life Sci & Nat Resources, Inst Computat Biol, Dept Biotechnol, Vienna BOKU, Muthgasse 18, A-1190 Vienna, AustriaStralis-Pavese, Nancy论文数: 0 引用数: 0 h-index: 0机构: Univ Life Sci & Nat Resources, Inst Computat Biol, Dept Biotechnol, Vienna BOKU, Muthgasse 18, A-1190 Vienna, Austria Univ Life Sci & Nat Resources, Inst Computat Biol, Dept Biotechnol, Vienna BOKU, Muthgasse 18, A-1190 Vienna, AustriaHimmelbauer, Heinz论文数: 0 引用数: 0 h-index: 0机构: Univ Life Sci & Nat Resources, Inst Computat Biol, Dept Biotechnol, Vienna BOKU, Muthgasse 18, A-1190 Vienna, Austria Univ Life Sci & Nat Resources, Inst Computat Biol, Dept Biotechnol, Vienna BOKU, Muthgasse 18, A-1190 Vienna, Austria
- [23] Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencingJOURNAL OF MEDICAL GENETICS, 2022, 59 (11) : 1133 - 1138Sano, Yusuke论文数: 0 引用数: 0 h-index: 0机构: Kyushu Univ, Grad Sch Med Sci, Dept Ophthalmol, Fukuoka, Fukuoka, Japan Univ Tokyo, Grad Sch Med, Dept Human Genet, Bunkyo Ku, Tokyo, Japan Kyushu Univ, Grad Sch Med Sci, Dept Ophthalmol, Fukuoka, Fukuoka, JapanKoyanagi, Yoshito论文数: 0 引用数: 0 h-index: 0机构: Kyushu Univ, Grad Sch Med Sci, Dept Ophthalmol, Fukuoka, Fukuoka, Japan RIKEN Ctr Integrat Med Sci, Lab Stat & Translat Genet, Yokohama, Kanagawa, Japan Kyushu Univ, Grad Sch Med Sci, Dept Ophthalmol, Fukuoka, Fukuoka, JapanWong, Jing Hao论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Med, Dept Human Genet, Bunkyo Ku, Tokyo, Japan Kyushu Univ, Grad Sch Med Sci, Dept Ophthalmol, Fukuoka, Fukuoka, Japan论文数: 引用数: h-index:机构:Fujiwara, Kohta论文数: 0 引用数: 0 h-index: 0机构: Kyushu Univ, Grad Sch Med Sci, Dept Ophthalmol, Fukuoka, Fukuoka, Japan Kyushu Univ, Grad Sch Med Sci, Dept Ophthalmol, Fukuoka, Fukuoka, JapanEndo, Mikiko论文数: 0 引用数: 0 h-index: 0机构: RIKEN Ctr Integrat Med Sci, Lab Genotyping Dev, Yokohama, Kanagawa, Japan Kyushu Univ, Grad Sch Med Sci, Dept Ophthalmol, Fukuoka, Fukuoka, JapanAoi, Tomomi论文数: 0 引用数: 0 h-index: 0机构: RIKEN Ctr Integrat Med Sci, Lab Genotyping Dev, Yokohama, Kanagawa, Japan Kyushu Univ, Grad Sch Med Sci, Dept Ophthalmol, Fukuoka, Fukuoka, JapanHashimoto, Kazuki论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Dept Ophthalmol, Grad Sch Med, Sendai, Miyagi, Japan Kyushu Univ, Grad Sch Med Sci, Dept Ophthalmol, Fukuoka, Fukuoka, JapanNakazawa, Toru论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Dept Ophthalmol, Grad Sch Med, Sendai, Miyagi, Japan Tohoku Univ, Dept Adv Ophthalm Med, Grad Sch Med, Sendai, Miyagi, Japan Kyushu Univ, Grad Sch Med Sci, Dept Ophthalmol, Fukuoka, Fukuoka, JapanWada, Yuko论文数: 0 引用数: 0 h-index: 0机构: Yuko WADA Eye Clin, Sendai, Miyagi, Japan Kyushu Univ, Grad Sch Med Sci, Dept Ophthalmol, Fukuoka, Fukuoka, JapanUeno, Shinji论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Dept Ophthalmol, Grad Sch Med, Nagoya, Aichi, Japan Kyushu Univ, Grad Sch Med Sci, Dept Ophthalmol, Fukuoka, Fukuoka, JapanGao, Dan论文数: 0 引用数: 0 h-index: 0机构: Juntendo Univ, Dept Ophthalmol, Grad Sch Med, Bunkyo Ku, Tokyo, Japan Kyushu Univ, Grad Sch Med Sci, Dept Ophthalmol, Fukuoka, Fukuoka, JapanMurakami, Akira论文数: 0 引用数: 0 h-index: 0机构: Juntendo Univ, Dept Ophthalmol, Grad Sch Med, Bunkyo Ku, Tokyo, Japan Kyushu Univ, Grad Sch Med Sci, Dept Ophthalmol, Fukuoka, Fukuoka, JapanHotta, Yoshihiro论文数: 0 引用数: 0 h-index: 0机构: Hamamatsu Univ Sch Med, Dept Ophthalmol, Shizuoka, Japan Kyushu Univ, Grad Sch Med Sci, Dept Ophthalmol, Fukuoka, Fukuoka, JapanIkeda, Yasuhiro论文数: 0 引用数: 0 h-index: 0机构: Univ Miyazaki, Fac Med, Dept Ophthalmol, Miyazaki, Japan Kyushu Univ, Grad Sch Med Sci, Dept Ophthalmol, Fukuoka, Fukuoka, JapanNishiguchi, Koji M.论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Dept Ophthalmol, Grad Sch Med, Nagoya, Aichi, Japan Kyushu Univ, Grad Sch Med Sci, Dept Ophthalmol, Fukuoka, Fukuoka, JapanMomozawa, Yukihide论文数: 0 引用数: 0 h-index: 0机构: RIKEN Ctr Integrat Med Sci, Lab Genotyping Dev, Yokohama, Kanagawa, Japan Kyushu Univ, Grad Sch Med Sci, Dept Ophthalmol, Fukuoka, Fukuoka, JapanSonoda, Koh-Hei论文数: 0 引用数: 0 h-index: 0机构: Kyushu Univ, Grad Sch Med Sci, Dept Ophthalmol, Fukuoka, Fukuoka, Japan Kyushu Univ, Grad Sch Med Sci, Dept Ophthalmol, Fukuoka, Fukuoka, Japan论文数: 引用数: h-index:机构:Fujimoto, Akihiro论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Med, Dept Human Genet, Bunkyo Ku, Tokyo, Japan Kyushu Univ, Grad Sch Med Sci, Dept Ophthalmol, Fukuoka, Fukuoka, Japan
- [24] Effect of inbreeding on intellectual disability revisited by trio sequencingCLINICAL GENETICS, 2019, 95 (01) : 151 - 159Kahrizi, Kimia论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranHu, Hao论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Mol Genet, Ihnestr 63-73, D-14195 Berlin, Germany Guangzhou Women & Childrens Med Ctr, Guangzhou Inst Pediat, 9 Jinsui Rd, Guangzhou 510623, Guangdong, Peoples R China Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranHosseini, Masoumeh论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranKalscheuer, Vera M.论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Mol Genet, Ihnestr 63-73, D-14195 Berlin, Germany Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranFattahi, Zohreh论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranBeheshtian, Maryam论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranSuckow, Vanessa论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Mol Genet, Ihnestr 63-73, D-14195 Berlin, Germany Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranMohseni, Marzieh论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranLipkowitz, Bettina论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Mol Genet, Ihnestr 63-73, D-14195 Berlin, Germany Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranMehvari, Sepideh论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranMehrjoo, Zohreh论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranAkhtarkhavari, Tara论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranGhaderi, Zhila论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranRahimi, Maryam论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranArzhangi, Sanaz论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranJamali, Payman论文数: 0 引用数: 0 h-index: 0机构: Shahrood Genet Counseling Ctr, Welf Off, Semnan, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranChian, Milad Falahat论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranNikuei, Pooneh论文数: 0 引用数: 0 h-index: 0机构: Hormozgan Univ Med Sci, Hormozgan Hlth Inst, Mol Med Res Ctr, Bandar Abbas, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranKermani, Farahnaz Sabbagh论文数: 0 引用数: 0 h-index: 0机构: Univ Med Sci, Afzalipour Hosp, Clin Res Unit, Kerman, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranSadeghinia, Farnaz论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranJazayeri, Roshanak论文数: 0 引用数: 0 h-index: 0机构: Alborz Univ Med Sci, Fac Med, Dept Biochem Genet & Nutr, Karaj, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran论文数: 引用数: h-index:机构:Khoshaeen, Atefeh论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranHabibi, Haleh论文数: 0 引用数: 0 h-index: 0机构: Hamedan Univ Med Sci, Hamadan, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranPourfatemi, Fatemeh论文数: 0 引用数: 0 h-index: 0机构: Sari Genet Counseling Ctr, Welf Off, Sari, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranMojahedi, Faezeh论文数: 0 引用数: 0 h-index: 0机构: Mashhad Med Genet Counseling Ctr, Mashhad, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranKhodaie-Ardakani, Mohammad-Reza论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Razi Hosp, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranNajafipour, Reza论文数: 0 引用数: 0 h-index: 0机构: Qazvin Univ Med Sci, Dept Genet, Cellular & Mol Res Ctr, Qazvin, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranWienker, Thomas F.论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Mol Genet, Ihnestr 63-73, D-14195 Berlin, Germany Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranNajmabadi, Hossein论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, IranRopers, Hans-Hilger论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Mol Genet, Ihnestr 63-73, D-14195 Berlin, Germany Univ Med Mainz, Inst Human Genet, Mainz, Germany Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran
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