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- [1] Translocation and gross deletion breakpolints in human inherited disease and cancer I: Nucleotide composition and recomblination-assocliated motifs[J]. HUMAN MUTATION, 2003, 22 (03) : 229 - 244Abeysinghe, SS论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, WalesChuzhanova, N论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, WalesKrawczak, M论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, WalesBall, EV论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, WalesCooper, DN论文数: 0 引用数: 0 h-index: 0机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
- [2] Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies[J]. GENOME MEDICINE, 2019, 11 (1)Arts, Peer论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands SA Pathol, Ctr Canc Biol, Dept Genet & Mol Pathol, Adelaide, SA, Australia Univ South Australia, Adelaide, SA, Australia Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsSimons, Annet论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsAlZahrani, Mofareh S.论文数: 0 引用数: 0 h-index: 0机构: Childrens Specialist Hosp, King Fahad Med City, Dept Pediat, Riyadh, Saudi Arabia Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsYilmaz, Elanur论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Akdeniz Univ, Dept Med Biol, Fac Med, Antalya, Turkey Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsAlIdrissi, Eman论文数: 0 引用数: 0 h-index: 0机构: Childrens Specialist Hosp, King Fahad Med City, Dept Pediat, Riyadh, Saudi Arabia Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlandsvan Aerde, Koen J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Pediat Immunol, Pediat, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsAlenezi, Njood论文数: 0 引用数: 0 h-index: 0机构: Childrens Specialist Hosp, King Fahad Med City, Dept Pediat, Riyadh, Saudi Arabia Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsAlGhamdi, Hamza A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Specialist Hosp, King Fahad Med City, Dept Pediat, Riyadh, Saudi Arabia Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsAlJubab, Hadeel A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Specialist Hosp, King Fahad Med City, Dept Pediat, Riyadh, Saudi Arabia Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsAl-Hussaini, Abdulrahman A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Specialist Hosp, King Fahad Med City, Dept Pediat, Riyadh, Saudi Arabia Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsAlManjomi, Fahad论文数: 0 引用数: 0 h-index: 0机构: King Fahad Med City, Comprehens Canc Ctr, Dept Pediat Hematol & Oncol, Riyadh, Saudi Arabia Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsAlsaad, Alaa B.论文数: 0 引用数: 0 h-index: 0机构: Childrens Specialist Hosp, King Fahad Med City, Dept Pediat, Riyadh, Saudi Arabia Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsAlsaleem, Badr论文数: 0 引用数: 0 h-index: 0机构: Childrens Specialist Hosp, King Fahad Med City, Dept Pediat, Riyadh, Saudi Arabia Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsAndijani, Abdulrahman A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Specialist Hosp, King Fahad Med City, Dept Pediat, Riyadh, Saudi Arabia Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsAsery, Ali论文数: 0 引用数: 0 h-index: 0机构: Childrens Specialist Hosp, King Fahad Med City, Dept Pediat, Riyadh, Saudi Arabia Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsBallourah, Walid论文数: 0 引用数: 0 h-index: 0机构: King Fahad Med City, Comprehens Canc Ctr, Dept Pediat Hematol & Oncol, Riyadh, Saudi Arabia Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsBleeker-Rovers, Chantal P.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Internal Med, Radboud Expertise Ctr Immunodeficiency & Autoinf, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlandsvan Deuren, Marcel论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Internal Med, Radboud Expertise Ctr Immunodeficiency & Autoinf, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlandsvan der Flier, Michiel论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Pediat Immunol, Pediat, Nijmegen, Netherlands Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Dept Pediat Infect Dis & Immunol, Utrecht, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsGerkes, Erica H.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsGilissen, Christian论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsHabazi, Murad K.论文数: 0 引用数: 0 h-index: 0机构: Childrens Specialist Hosp, King Fahad Med City, Dept Pediat, Riyadh, Saudi Arabia Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsHehir-Kwa, Jayne Y.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Princess Maxima Ctr Pediat Oncol, Utrecht, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsHenriet, Stefanie S.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Pediat Immunol, Pediat, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsHoppenreijs, Esther P.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Pediat Rheumatol, Pediat, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsHortillosa, Sarah论文数: 0 引用数: 0 h-index: 0机构: Childrens Specialist Hosp, King Fahad Med City, Dept Pediat, Riyadh, Saudi Arabia Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsKerkhofs, Chantal H.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsKeski-Filppula, Riikka论文数: 0 引用数: 0 h-index: 0机构: Univ Oulu, PEDEGO Res Unit, Oulu, Finland Univ Oulu, Med Res Ctr Oulu, Oulu, Finland Oulu Univ Hosp, Dept Clin Genet, Oulu, Finland Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsLelieveld, Stefan H.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsLone, Khurram论文数: 0 引用数: 0 h-index: 0机构: Childrens Specialist Hosp, King Fahad Med City, Dept Pediat, Riyadh, Saudi Arabia Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsMacKenzie, Marius A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Hematol, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsMensenkamp, Arjen R.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsMoilanen, Jukka论文数: 0 引用数: 0 h-index: 0机构: Univ Oulu, PEDEGO Res Unit, Oulu, Finland Univ Oulu, Med Res Ctr Oulu, Oulu, Finland Oulu Univ Hosp, Dept Clin Genet, Oulu, Finland Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsNelen, Marcel论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlandsten Oever, Jaap论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Internal Med, Radboud Expertise Ctr Immunodeficiency & Autoinf, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsPotjewijd, Judith论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Clin Immunol, Maastricht, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlandsvan Paassen, Pieter论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Clin Immunol, Maastricht, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsSchuurs-Hoeijmakers, Janneke H. M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsSimon, Anna论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Internal Med, Radboud Expertise Ctr Immunodeficiency & Autoinf, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsStokowy, Tomasz论文数: 0 引用数: 0 h-index: 0机构: Univ Bergen, Computat Biol Unit, Dept Informat, Dept Clin Sci, N-5020 Bergen, Norway Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlandsvan de Vorst, Maartje论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsVreeburg, Maaike论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsWagner, Anja论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr, Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlandsvan Well, Gijs T. J.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Sch Nutr & Translat Res Metab NUTRIM, Dept Pediat, Maastricht, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsZafeiropoulou, Dimitra论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsZonneveld-Huijssoon, Evelien论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsVeltman, Joris A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlandsvan Zelst-Stams, Wendy A. G.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, NetherlandsFaqeih, Eissa A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Specialist Hosp, King Fahad Med City, Dept Pediat, Riyadh, Saudi Arabia Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlandsvan de Veerdonk, Frank L.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Internal Med, Radboud Expertise Ctr Immunodeficiency & Autoinf, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands
- [3] Bessa J, 2011, METHODS MOL BIOL, V772, P397, DOI 10.1007/978-1-61779-228-1_23
- [4] Zebrafish Enhancer Detection (ZED) Vector: A New Tool to Facilitate Transgenesis and the Functional Analysis of cis-Regulatory Regions in Zebrafish[J]. DEVELOPMENTAL DYNAMICS, 2009, 238 (09) : 2409 - 2417Bessa, Jose论文数: 0 引用数: 0 h-index: 0机构: Univ Pablo Olavide, CABD, CSIC, E-41013 Seville, Spain Univ Pablo Olavide, CABD, CSIC, E-41013 Seville, SpainTena, Juan J.论文数: 0 引用数: 0 h-index: 0机构: Univ Pablo Olavide, CABD, CSIC, E-41013 Seville, Spain Univ Pablo Olavide, CABD, CSIC, E-41013 Seville, Spainde la Calle-Mustienes, Elisa论文数: 0 引用数: 0 h-index: 0机构: Univ Pablo Olavide, CABD, CSIC, E-41013 Seville, Spain Univ Pablo Olavide, CABD, CSIC, E-41013 Seville, SpainFernandez-Minan, Ana论文数: 0 引用数: 0 h-index: 0机构: Univ Pablo Olavide, CABD, CSIC, E-41013 Seville, Spain Univ Pablo Olavide, CABD, CSIC, E-41013 Seville, SpainNaranjo, Silvia论文数: 0 引用数: 0 h-index: 0机构: Univ Pablo Olavide, CABD, CSIC, E-41013 Seville, Spain Univ Pablo Olavide, CABD, CSIC, E-41013 Seville, SpainFernandez, Almudena论文数: 0 引用数: 0 h-index: 0机构: ISCIII, CIBERER, Madrid, Spain ISCIII, CSIC, CNB, Madrid, Spain Univ Pablo Olavide, CABD, CSIC, E-41013 Seville, SpainMontoliu, Lluis论文数: 0 引用数: 0 h-index: 0机构: ISCIII, CIBERER, Madrid, Spain ISCIII, CSIC, CNB, Madrid, Spain Univ Pablo Olavide, CABD, CSIC, E-41013 Seville, SpainAkalin, Altuna论文数: 0 引用数: 0 h-index: 0机构: Univ Bergen, Computat Biol Unit, Bergen Ctr Computat Sci, Bergen, Norway Univ Pablo Olavide, CABD, CSIC, E-41013 Seville, Spain论文数: 引用数: h-index:机构:Casares, Fernando论文数: 0 引用数: 0 h-index: 0机构: Univ Pablo Olavide, CABD, CSIC, E-41013 Seville, Spain Univ Pablo Olavide, CABD, CSIC, E-41013 Seville, SpainLuis Gomez-Skarmeta, Jose论文数: 0 引用数: 0 h-index: 0机构: Univ Pablo Olavide, CABD, CSIC, E-41013 Seville, Spain Univ Pablo Olavide, CABD, CSIC, E-41013 Seville, Spain
- [5] Prdm13 forms a feedback loop with Ptf1a and is required for glycinergic amacrine cell genesis in the Xenopus Retina[J]. NEURAL DEVELOPMENT, 2017, 12Bessodes, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Univ Libre Bruxelles, Neurosci Inst UNI, B-6041 Gosselies, Belgium Univ Paris Saclay, Univ Paris Sud, CNRS, Paris Saclay Inst Neurosci,UMR 9197,NeuroPSI, Bat 445, F-91405 Orsay, France Univ Libre Bruxelles, Neurosci Inst UNI, B-6041 Gosselies, BelgiumParain, Karine论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, Univ Paris Sud, CNRS, Paris Saclay Inst Neurosci,UMR 9197,NeuroPSI, Bat 445, F-91405 Orsay, France Univ Libre Bruxelles, Neurosci Inst UNI, B-6041 Gosselies, BelgiumBronchain, Odile论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, Univ Paris Sud, CNRS, Paris Saclay Inst Neurosci,UMR 9197,NeuroPSI, Bat 445, F-91405 Orsay, France Univ Libre Bruxelles, Neurosci Inst UNI, B-6041 Gosselies, BelgiumBellefroid, Eric J.论文数: 0 引用数: 0 h-index: 0机构: Univ Libre Bruxelles, Neurosci Inst UNI, B-6041 Gosselies, Belgium Univ Libre Bruxelles, Neurosci Inst UNI, B-6041 Gosselies, BelgiumPerron, Muriel论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, Univ Paris Sud, CNRS, Paris Saclay Inst Neurosci,UMR 9197,NeuroPSI, Bat 445, F-91405 Orsay, France Retina France, Ctr Etud & Rech Therapeut Ophtalmol, Orsay, France Univ Libre Bruxelles, Neurosci Inst UNI, B-6041 Gosselies, Belgium
- [6] Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2013, 93 (06) : 1126 - 1134论文数: 引用数: h-index:机构:Bengani, Hemant论文数: 0 引用数: 0 h-index: 0机构: Univ Edinburgh, MRC Human Genet Unit, MRC IGMM, Edinburgh EH4 2XU, Midlothian, Scotland Univ Edinburgh, MRC Human Genet Unit, MRC IGMM, Edinburgh EH4 2XU, Midlothian, ScotlandFish, Margaret论文数: 0 引用数: 0 h-index: 0机构: Univ Virginia, Dept Biol, Charlottesville, VA 22904 USA Univ Edinburgh, MRC Human Genet Unit, MRC IGMM, Edinburgh EH4 2XU, Midlothian, ScotlandBrown, Alison论文数: 0 引用数: 0 h-index: 0机构: Univ Edinburgh, MRC Human Genet Unit, MRC IGMM, Edinburgh EH4 2XU, Midlothian, Scotland Univ Edinburgh, MRC Human Genet Unit, MRC IGMM, Edinburgh EH4 2XU, Midlothian, ScotlandDivizia, Maria Teresa论文数: 0 引用数: 0 h-index: 0机构: Gaslini Childrens Hosp, Med Genet Unit, I-16147 Genoa, Italy Univ Edinburgh, MRC Human Genet Unit, MRC IGMM, Edinburgh EH4 2XU, Midlothian, Scotlandde Marco, Riccardo论文数: 0 引用数: 0 h-index: 0机构: Inst G Gaslini, Ophtalmol Unit, I-16147 Genoa, Italy Univ Edinburgh, MRC Human Genet Unit, MRC IGMM, Edinburgh EH4 2XU, Midlothian, ScotlandDamante, Guiseppe论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ S Maria della Misericordia, Dipartimento Med Lab, I-33100 Udine, Italy Univ Edinburgh, MRC Human Genet Unit, MRC IGMM, Edinburgh EH4 2XU, Midlothian, Scotland论文数: 引用数: h-index:机构:van Heyningen, Veronica论文数: 0 引用数: 0 h-index: 0机构: Univ Edinburgh, MRC Human Genet Unit, MRC IGMM, Edinburgh EH4 2XU, Midlothian, Scotland Univ Edinburgh, MRC Human Genet Unit, MRC IGMM, Edinburgh EH4 2XU, Midlothian, ScotlandKleinjan, Dirk A.论文数: 0 引用数: 0 h-index: 0机构: Univ Edinburgh, MRC Human Genet Unit, MRC IGMM, Edinburgh EH4 2XU, Midlothian, Scotland Univ Edinburgh, MRC Human Genet Unit, MRC IGMM, Edinburgh EH4 2XU, Midlothian, Scotland
- [7] Identification of the vertebrate Iroquois homeobox gene family with overlapping expression during early development of the nervous system[J]. MECHANISMS OF DEVELOPMENT, 1997, 69 (1-2) : 169 - 181Bosse, A论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Biophys Chem, Dept Mol Cell Biol, D-37077 Gottingen, Germany Max Planck Inst Biophys Chem, Dept Mol Cell Biol, D-37077 Gottingen, GermanyZülch, A论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Biophys Chem, Dept Mol Cell Biol, D-37077 Gottingen, GermanyBecker, MB论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Biophys Chem, Dept Mol Cell Biol, D-37077 Gottingen, GermanyTorres, M论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Biophys Chem, Dept Mol Cell Biol, D-37077 Gottingen, GermanyGómez-Skarmeta, JL论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Biophys Chem, Dept Mol Cell Biol, D-37077 Gottingen, GermanyModolell, J论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Biophys Chem, Dept Mol Cell Biol, D-37077 Gottingen, GermanyGruss, P论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Biophys Chem, Dept Mol Cell Biol, D-37077 Gottingen, Germany
- [8] Bowne SJ, 2016, MOL VIS, V22, P1239
- [9] Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2017, 100 (01) : 75 - 90Carss, Keren J.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource Rare Dis, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England论文数: 引用数: h-index:机构:Erwood, Marie论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource Rare Dis, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England论文数: 引用数: h-index:机构:Sanchis-Juan, Alba论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource Rare Dis, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Dewhurst, Eleanor论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource Rare Dis, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandMalka, Samantha论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Inst Ophthalmol, London EC1V 9EL, England Moorfields Eye Hosp, London EC1V 2PD, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandPlagnol, Vincent论文数: 0 引用数: 0 h-index: 0机构: UCL, Genet Inst, London WC1E 6BT, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England论文数: 引用数: h-index:机构:Stirrups, Kathleen论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource Rare Dis, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandRizzo, Roberta论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, London EC1V 2PD, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandWright, Genevieve论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, London EC1V 2PD, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandJosifova, Dragana论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource Rare Dis, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Guys Hosp, Clin Genet Dept, Great Maze Pond, London SE1 9RT, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandBitner-Glindzicz, Maria论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource Rare Dis, Cambridge Biomed Campus, Cambridge CB2 0QQ, England UCL Great Ormond St Inst Child Hlth, 30 Guilford St, London WC1N 1EH, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandScott, Richard H.论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource Rare Dis, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Great Ormond St Hosp Sick Children, North East Thames Reg Genet Serv, London WC1N 3JH, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandClement, Emma论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource Rare Dis, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Great Ormond St Hosp Sick Children, Great Ormond St, London WC1N 3JH, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England论文数: 引用数: h-index:机构:Armstrong, Ruth论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource 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NHS Fdn Trust, Dept Paediat Neurol, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandChitre, Manali论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource Rare Dis, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Cambridge Univ Hosp NHS Fdn Trust, Dept Med Genet, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Cambridge Univ Hosp NHS Fdn Trust, Dept Paediat Neurol, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandHenderson, Robert H. 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- [10] Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications[J]. BIOINFORMATICS, 2016, 32 (08) : 1220 - 1222Chen, Xiaoyu论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, 5200 Illumina Way, San Diego, CA 92122 USA Illumina Inc, 5200 Illumina Way, San Diego, CA 92122 USASchulz-Trieglaff, Ole论文数: 0 引用数: 0 h-index: 0机构: Illumina Cambridge Ltd, Chesterford Res Pk, Saffron Walden CB10 1XL, Essex, England Illumina Inc, 5200 Illumina Way, San Diego, CA 92122 USAShaw, Richard论文数: 0 引用数: 0 h-index: 0机构: Illumina Cambridge Ltd, Chesterford Res Pk, Saffron Walden CB10 1XL, Essex, England Illumina Inc, 5200 Illumina Way, San Diego, CA 92122 USABarnes, Bret论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, 5200 Illumina Way, San Diego, CA 92122 USA Illumina Inc, 5200 Illumina Way, San Diego, CA 92122 USASchlesinger, Felix论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, 5200 Illumina Way, San Diego, CA 92122 USA Illumina Inc, 5200 Illumina Way, San Diego, CA 92122 USAKallberg, Morten论文数: 0 引用数: 0 h-index: 0机构: Illumina Cambridge Ltd, Chesterford Res Pk, Saffron Walden CB10 1XL, Essex, England Illumina Inc, 5200 Illumina Way, San Diego, CA 92122 USACox, Anthony J.论文数: 0 引用数: 0 h-index: 0机构: Illumina Cambridge Ltd, Chesterford Res Pk, Saffron Walden CB10 1XL, Essex, England Illumina Inc, 5200 Illumina Way, San Diego, CA 92122 USAKruglyakl, Semyon论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, 5200 Illumina Way, San Diego, CA 92122 USA Illumina Inc, 5200 Illumina Way, San Diego, CA 92122 USASaunders, Christopher T.论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, 5200 Illumina Way, San Diego, CA 92122 USA Illumina Inc, 5200 Illumina Way, San Diego, CA 92122 USA