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- [1] ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndromeJOURNAL OF HUMAN GENETICS, 2017, 62 (08) : 741 - 746论文数: 引用数: h-index:机构:Okamoto, Nobuhiko论文数: 0 引用数: 0 h-index: 0机构: Osaka Med Ctr, Dept Med Genet, Osaka, Japan Res Inst Maternal & Child Hlth, Osaka, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, JapanStark, Zornitza论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, JapanNabetani, Makoto论文数: 0 引用数: 0 h-index: 0机构: Yodogawa Christians Hosp, Dept Pediat, Osaka, Osaka, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, JapanTsurusaki, Yoshinori论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, JapanNakashima, Mitsuko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, JapanMiyake, Noriko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, JapanMizuguchi, Takeshi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, JapanOhtake, Akira论文数: 0 引用数: 0 h-index: 0机构: Saitama Med Univ, Fac Med, Dept Pediat, Saitama, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan论文数: 引用数: h-index:机构:Matsumoto, Naomichi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan
- [2] A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndromeJournal of Human Genetics, 2017, 62 : 739 - 740Tadashi Kaname论文数: 0 引用数: 0 h-index: 0机构: National Center for Child Health and Development,Department of Genome MedicineKumiko Yanagi论文数: 0 引用数: 0 h-index: 0机构: National Center for Child Health and Development,Department of Genome Medicine
- [3] ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndromeJournal of Human Genetics, 2017, 62 : 741 - 746Satoko Miyatake论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsNobuhiko Okamoto论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsZornitza Stark论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsMakoto Nabetani论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsYoshinori Tsurusaki论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsMitsuko Nakashima论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsNoriko Miyake论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsTakeshi Mizuguchi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsAkira Ohtake论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsHirotomo Saitsu论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsNaomichi Matsumoto论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human Genetics
- [4] ANKRD11 variants: KBG syndrome and beyondCLINICAL GENETICS, 2021, 100 (02) : 187 - 200Parenti, Ilaria论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyMallozzi, Mark B.论文数: 0 引用数: 0 h-index: 0机构: Thomas Jefferson Univ Hosp, Dept Internal Med, Philadelphia, PA 19107 USA Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyHuening, Irina论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Humangenet, Lubeck, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, Germany论文数: 引用数: h-index:机构:Kuechler, Alma论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyAgolini, Emanuele论文数: 0 引用数: 0 h-index: 0机构: IRCCS, Med Genet Lab, Osped Pediat Bambino Gesu, Rome, Italy Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyAlbrecht, Beate论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyBaquero-Montoya, Carolina论文数: 0 引用数: 0 h-index: 0机构: Hosp Pablo Tobon Uribe, Dept Pediat, Medellin, Colombia Sura Ayudas Diagnost, Genet Unit, Medellin, Colombia Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyBohring, Axel论文数: 0 引用数: 0 h-index: 0机构: Westfalische Wilhelms Univ, Inst Humangenet, Munster, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyBramswig, Nuria C.论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyBusche, Andreas论文数: 0 引用数: 0 h-index: 0机构: Westfalische Wilhelms Univ, Inst Humangenet, Munster, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyDalski, Andreas论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Humangenet, Lubeck, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyGuo, Yiran论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Ctr Data Driven Discovery Biomed, Philadelphia, PA 19104 USA Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyHanker, Britta论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Humangenet, Lubeck, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyHellenbroich, Yorck论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Humangenet, Lubeck, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyHorn, Denise论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Inst Med & Human Genet, Berlin, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyInnes, A. Micheil论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Dept Med Genet, Calgary, AB, Canada Univ Calgary, Alberta Childrens Hosp Res Inst, Calgary, AB, Canada Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyLeoni, Chiara论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli IRCCS, Dept Woman & Child Hlth & Publ Hlth, Ctr Rare Dis & Birth Defects, Rome, Italy Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyLi, Yun R.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Ctr Data Driven Discovery Biomed, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Med Scientist Training Program, Philadelphia, PA 19104 USA Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyLynch, Sally Ann论文数: 0 引用数: 0 h-index: 0机构: Childrens Hlth Ireland CHI Crumlin, Dept Clin Genet, Dublin, Ireland Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyMariani, Milena论文数: 0 引用数: 0 h-index: 0机构: ASST Lariana St Anna Hosp, Dept Pediat, Ctr Fdn Mariani Bambino Fragile, San Fermo Della Battagli, Como, Italy Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyMedne, Livija论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Penn, Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyMikat, Barbara论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyMilani, Donatella论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore Policlin Milan, Milan, Italy Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyOnesimo, Roberta论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli IRCCS, Dept Woman & Child Hlth & Publ Hlth, Ctr Rare Dis & Birth Defects, Rome, Italy Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyOrtiz-Gonzalez, Xilma论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Dept Pediat, Epilepsy Neurogenet Initiat, Philadelphia, PA 19104 USA Univ Penn, Dept Neurol, Perelman Sch Med, Philadelphia, PA 19104 USA Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyPrott, Eva Christina论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, Germany Inst Praenatale Med & Humangenet, Wuppertal, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyReutter, Heiko论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bonn, Inst Human Genet, Bonn, Germany Univ Hosp Bonn, Dept Neonatol & Pediat Intens Care, Bonn, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyRossier, Eva论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Angew Genom, Tubingen, Germany Genet Counselling & Diagnost, Genetikum Stuttgart, Stuttgart, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanySelicorni, Angelo论文数: 0 引用数: 0 h-index: 0机构: ASST Lariana St Anna Hosp, Dept Pediat, Ctr Fdn Mariani Bambino Fragile, San Fermo Della Battagli, Como, Italy Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyWieacker, Peter论文数: 0 引用数: 0 h-index: 0机构: Westfalische Wilhelms Univ, Inst Humangenet, Munster, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyWilkens, Alisha论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyWieczorek, Dagmar论文数: 0 引用数: 0 h-index: 0机构: Heinrich Heine Univ Dusseldorf, Fac Med, Inst Human Genet, Dusseldorf, Germany Heinrich Heine Univ Dusseldorf, Univ Hosp Dusseldorf, Dusseldorf, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyZackai, Elaine H.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA Univ Penn, Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyZampino, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli IRCCS, Dept Woman & Child Hlth & Publ Hlth, Ctr Rare Dis & Birth Defects, Rome, Italy Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyZirn, Birgit论文数: 0 引用数: 0 h-index: 0机构: Genet Counselling & Diagnost, Genetikum Stuttgart, Stuttgart, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyHakonarson, Hakon论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Ctr Data Driven Discovery Biomed, Philadelphia, PA 19104 USA Univ Penn, Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyDeardorff, Matthew A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Los Angeles, Dept Pathol & Lab Med & Pediat, Los Angeles, CA 90027 USA Univ Southern Calif, Keck Sch Med, Los Angeles, CA 90007 USA Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyGillessen-Kaesbach, Gabriele论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Humangenet, Lubeck, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, GermanyKaiser, Frank J.论文数: 0 引用数: 0 h-index: 0机构: Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, Germany Univ Med Essen, Essener Zentrum Seltene Erkrankungen EZSE, Essen, Germany Univ Duisburg Essen, Univ Klinikum Essen, Inst Humangenet, Hufelandstr 55, D-45122 Essen, Germany
- [5] Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded proteinGENETICS IN MEDICINE, 2022, 24 (10) : 2051 - 2064de Boer, Elke论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsOckeloen, Charlotte W.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsKampen, Rosalie A.论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Psycholinguist, Language & Genet Dept, Nijmegen, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsHampstead, Juliet E.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Netherlands Radboudumc, Radboud Inst Mol Life Sci, Nijmegen, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsDingemans, Alexander J. M.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsRots, Dmitrijs论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsLutje, Lukas论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Psycholinguist, Language & Genet Dept, Nijmegen, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsAshraf, Tazeen论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, Dept Clin Genet, London, England Guys & St Thomas NHS Fdn Trust, Clin Genet, London, England Radboudumc, Dept Human Genet, Nijmegen, NetherlandsBaker, Rachel论文数: 0 引用数: 0 h-index: 0机构: Advocate Childrens Hosp, Park Ridge, IL USA Radboudumc, Dept Human Genet, Nijmegen, NetherlandsBarat-Houari, Mouna论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Montpellier, Dept Med Genet Rare Dis & Personalized Med, Genet Lab Rare & Autoinflammatory Dis, Montpellier, France Radboudumc, Dept Human Genet, Nijmegen, NetherlandsAngle, Brad论文数: 0 引用数: 0 h-index: 0机构: Advocate Childrens Hosp, Park Ridge, IL USA Radboudumc, Dept Human Genet, Nijmegen, Netherlands论文数: 引用数: h-index:机构:Denomme-Pichon, Anne-Sophie论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne Franche Comte, UMR1231, INSERM, Genet Anomalies Dev, Dijon, France Ctr Hosp Univ Dijon, Lab Genet Chromosom & Mol, UF6254 Innovat Diagnost Genom Malad Rares, Dijon, France Radboudumc, Dept Human Genet, Nijmegen, NetherlandsDevinsky, Orrin论文数: 0 引用数: 0 h-index: 0机构: NYU Langone Hlth, NYU Grossman Sch Med, Dept Neurol, New York, NY USA Radboudumc, Dept Human Genet, Nijmegen, NetherlandsDubourg, Christele论文数: 0 引用数: 0 h-index: 0机构: CHU Rennes, Serv Genet Mol & Genom Med, Rennes, France Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France Radboudumc, Dept Human Genet, Nijmegen, NetherlandsElmslie, Frances论文数: 0 引用数: 0 h-index: 0机构: Univ London, St Georges Hosp, South West Thames Reg Clin Genet Serv, London, England Radboudumc, Dept Human Genet, Nijmegen, NetherlandsElloumi, Houda Zghal论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Radboudumc, Dept Human Genet, Nijmegen, NetherlandsFaivre, Laurence论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne Franche Comte, UMR1231, INSERM, Genet Anomalies Dev, Dijon, France Ctr Hosp Univ Dijon, Ctr Genet, Dijon, France Ctr Hosp Univ Dijon, Ctr Reference Anomaies Dev & Syndromes Malformati, Dijon, France Ctr Hosp Univ Dijon, Federat Hosp Univ Med Translat & Anomalies Dev TR, Dijon, France Radboudumc, Dept Human Genet, Nijmegen, NetherlandsFitzgerald-Butt, Sarah论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA Radboudumc, Dept Human Genet, Nijmegen, NetherlandsGenevieve, David论文数: 0 引用数: 0 h-index: 0机构: Montpellier Univ, CHU Montpellier, Med Genet Dept, Rare Dis & Personalized Med,Inserm,U1183, Montpellier, France Radboudumc, Dept Human Genet, Nijmegen, NetherlandsGoos, Jacqueline A. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Rotterdam, Erasmus MC, Dutch Craniofacial Ctr, Dept Plast & Reconstruct Surg & Hand Surg, Rotterdam, Netherlands Univ Med Ctr Rotterdam, Erasmus MC, Dept Bioinformat, Rotterdam, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsHelm, Benjamin M.论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA Indiana Univ, Richard M Fairbanks Sch Publ Hlth, Dept Epidemiol, Indianapolis, IN 46204 USA Radboudumc, Dept Human Genet, Nijmegen, Netherlands论文数: 引用数: h-index:机构:Lasa-Aranzasti, Amaia论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Univ Hosp, Dept Clin & Mol Genet, Barcelona, Spain Vall dHebron Res Inst, Med Genet Grp, Barcelona, Spain Radboudumc, Dept Human Genet, Nijmegen, NetherlandsLesca, Gaetan论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Serv Genet, Bron, France Univ Claude Bernard Lyon 1, INSERM, U1217, Inst NeuroMyoGene,CNRS,UMR5310, Lyon, France Radboudumc, Dept Human Genet, Nijmegen, NetherlandsLynch, Sally A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hlth Ireland Crumlin & Temple St, Dept Clin Genet, Dublin, Ireland Radboudumc, Dept Human Genet, Nijmegen, NetherlandsMathijssen, Irene M. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Rotterdam, Erasmus MC, Dutch Craniofacial Ctr, Dept Plast & Reconstruct Surg & Hand Surg, Rotterdam, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsMcGowan, Ruth论文数: 0 引用数: 0 h-index: 0机构: Queen Elizabeth Univ Hosp, Scottish Genomes Partnership, West Scotland Ctr Genom Med, Glasgow, Lanark, Scotland Radboudumc, Dept Human Genet, Nijmegen, NetherlandsMonaghan, Kristin G.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Radboudumc, Dept Human Genet, Nijmegen, NetherlandsOdent, Sylvie论文数: 0 引用数: 0 h-index: 0机构: Hop Sud, CHU Rennes, Serv Genet Clin, Ctr Reference Malad Rares CLAD Ouest,ERN ITHACA, Rennes, France Radboudumc, Dept Human Genet, Nijmegen, NetherlandsPfundt, Rolph论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsPutoux, Audrey论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Serv Genet, Ctr Reference Anomalies Dev, Bron, France Univ Claude Bernard Lyon 1, CNRS, UMR5292, INSERM,U1028,Ctr Rech Neurosci Lyon,Equipe GENDEV, Lyon, France Radboudumc, Dept Human Genet, Nijmegen, Netherlandsvan Reeuwijk, Jeroen论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsSanten, Gijs W. E.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsSasaki, Erina论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, Oxford Ctr Genom Med, Oxford, England Radboudumc, Dept Human Genet, Nijmegen, NetherlandsSorlin, Arthur论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne Franche Comte, UMR1231, INSERM, Genet Anomalies Dev, Dijon, France Ctr Hosp Univ Dijon, Ctr Genet, Dijon, France Ctr Hosp Univ Dijon, Ctr Reference Anomaies Dev & Syndromes Malformati, Dijon, France Radboudumc, Dept Human Genet, Nijmegen, Netherlandsvan der Spek, Peter J.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Rotterdam, Erasmus MC, Dept Bioinformat, Rotterdam, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsStegmann, Alexander P. A.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Netherlands Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsSwagemakers, Sigrid M. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Rotterdam, Erasmus MC, Dept Bioinformat, Rotterdam, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsValenzuela, Irene论文数: 0 引用数: 0 h-index: 0机构: Vall dHebron Univ Hosp, Dept Clin & Mol Genet, Barcelona, Spain Vall dHebron Res Inst, Med Genet Grp, Barcelona, Spain Radboudumc, Dept Human Genet, Nijmegen, NetherlandsViora-Dupont, Eleonore论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Dijon, Ctr Genet, Dijon, France Ctr Hosp Univ Dijon, Ctr Reference Anomaies Dev & Syndromes Malformati, Dijon, France Radboudumc, Dept Human Genet, Nijmegen, NetherlandsVitobello, Antonio论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne Franche Comte, UMR1231, INSERM, Genet Anomalies Dev, Dijon, France Ctr Hosp Univ Dijon, Lab Genet Chromosom & Mol, UF6254 Innovat Diagnost Genom Malad Rares, Dijon, France Radboudumc, Dept Human Genet, Nijmegen, NetherlandsWare, Stephanie M.论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA Indiana Univ Sch Med, Dept Pediat, Indianapolis, IN 46202 USA Radboudumc, Dept Human Genet, Nijmegen, NetherlandsWeber, Mathys论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Dijon, Ctr Genet, Dijon, France Ctr Hosp Univ Dijon, Ctr Reference Anomaies Dev & Syndromes Malformati, Dijon, France Radboudumc, Dept Human Genet, Nijmegen, NetherlandsGilissen, Christian论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Netherlands Radboudumc, Radboud Inst Mol Life Sci, Nijmegen, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsLow, Karen J.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bristol & Weston NHS Fdn Trust, Dept Clin Genet, Bristol, Avon, England Radboudumc, Dept Human Genet, Nijmegen, NetherlandsFisher, Simon E.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Max Planck Inst Psycholinguist, Language & Genet Dept, Nijmegen, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsVissers, Lisenka E. L. M.论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsWong, Maggie M. K.论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Psycholinguist, Language & Genet Dept, Nijmegen, Netherlands Radboudumc, Dept Human Genet, Nijmegen, NetherlandsKleefstra, Tjitske论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Vincent van Gogh Inst Psychiat, Ctr Excellence Neuropsychiat, Venray, Netherlands Radboudumc, Dept Human Genet, Nijmegen, Netherlands
- [6] Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded proteinEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 444 - 445de Boer, Elke论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Human Genet, Nijmegen, Netherlands Donders Inst, Nijmegen, Netherlands Radboudumc, Human Genet, Nijmegen, NetherlandsOckeloen, Charlotte论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Human Genet, Nijmegen, Netherlands Radboudumc, Human Genet, Nijmegen, NetherlandsKampen, Rosalie A.论文数: 0 引用数: 0 h-index: 0机构: MPI Psycholinguist, Nijmegen, Netherlands Radboudumc, Human Genet, Nijmegen, NetherlandsHampstead, Juliet论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Human Genet, Nijmegen, Netherlands RIMLS, Nijmegen, Netherlands Radboudumc, Human Genet, Nijmegen, NetherlandsDingemans, Alexander论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Human Genet, Nijmegen, Netherlands Donders Inst, Nijmegen, Netherlands Radboudumc, Human Genet, Nijmegen, NetherlandsRots, Dmitrijs论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Human Genet, Nijmegen, Netherlands Donders Inst, Nijmegen, Netherlands Radboudumc, Human Genet, Nijmegen, NetherlandsAshraf, Tazeen论文数: 0 引用数: 0 h-index: 0机构: Great Ormond Str Hosp Children NHS, London, England Guys & St Thomas NHS, London, England Radboudumc, Human Genet, Nijmegen, NetherlandsBaker, Rachel论文数: 0 引用数: 0 h-index: 0机构: Advocate Childrens Hosp, Park Ridge, IL USA Radboudumc, Human Genet, Nijmegen, NetherlandsBarat-Houari, Mouna论文数: 0 引用数: 0 h-index: 0机构: CHU Montpellier, Montpellier, France Radboudumc, Human Genet, Nijmegen, NetherlandsAngle, Brad论文数: 0 引用数: 0 h-index: 0机构: Advocate Childrens Hosp, Park Ridge, IL USA Radboudumc, Human Genet, Nijmegen, NetherlandsChatron, Nicolas论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Lyon, France Inst NeuroMyoGene, Lyon, France Radboudumc, Human Genet, Nijmegen, NetherlandsDenomme-Pichon, Anne-Sophie论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne Franche Comte, Dijon, France Lab Genet Chromosom & Mol, Dijon, 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Netherlandsvan der Spek, Peter论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Human Genet, Nijmegen, NetherlandsStegmann, Alexander论文数: 0 引用数: 0 h-index: 0机构: Maastricht UMC, AzM, Maastricht, Netherlands Radboudumc, Human Genet, Nijmegen, NetherlandsSwagemakers, Sigrid论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Human Genet, Nijmegen, NetherlandsViora-Dupont, Eleonore论文数: 0 引用数: 0 h-index: 0机构: Ctr Genet, Dijon, France Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France Radboudumc, Human Genet, Nijmegen, NetherlandsVitobello, Antonio论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne Franche Comte, Dijon, France Lab Genet Chromosom & Mol, Dijon, France Radboudumc, Human Genet, Nijmegen, Netherlands论文数: 引用数: h-index:机构:Weber, Mathys论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Human Genet, Nijmegen, NetherlandsGilissen, Christian论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Human Genet, Nijmegen, Netherlands RIMLS, Nijmegen, Netherlands Radboudumc, Human Genet, Nijmegen, NetherlandsLow, Karen论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bristol, Weston NHS, Bristol, England Radboudumc, Human Genet, Nijmegen, NetherlandsFisher, Simon论文数: 0 引用数: 0 h-index: 0机构: MPI Psycholinguist, Nijmegen, Netherlands Radboudumc, Human Genet, Nijmegen, NetherlandsVissers, Lisenka论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Human Genet, Nijmegen, Netherlands Donders Inst, Nijmegen, Netherlands Radboudumc, Human Genet, Nijmegen, NetherlandsWong, Maggie论文数: 0 引用数: 0 h-index: 0机构: MPI Psycholinguist, Nijmegen, Netherlands Radboudumc, Human Genet, Nijmegen, NetherlandsKleefstra, Tjitske论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Human Genet, Nijmegen, Netherlands Donders Inst, Nijmegen, Netherlands Vincent van Gogh Inst, Venray, Netherlands Radboudumc, Human Genet, Nijmegen, Netherlands
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- [9] Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and MacrodontiaAMERICAN JOURNAL OF HUMAN GENETICS, 2011, 89 (02) : 289 - 294Sirmaci, Asli论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USASpiliopoulos, Michail论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USABrancati, Francesco论文数: 0 引用数: 0 h-index: 0机构: IRCCS Casa Sollievo Sofferenza, Mendel Lab, I-00198 Rome, Italy Univ Roma Tor Vergata, Dept Biopathol & Diagnost Imaging, I-00133 Rome, Italy DAnnunzio Univ, Dept Biomed Sci, I-66100 Chieti, Italy Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USAPowell, Eric论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USADuman, Duygu论文数: 0 引用数: 0 h-index: 0机构: Ankara Univ, Sch Med, Div Pediat Genet, TR-06100 Ankara, Turkey Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USAAbrams, Alex论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USABademci, Guney论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USAAgolini, Emanuele论文数: 0 引用数: 0 h-index: 0机构: IRCCS Casa Sollievo Sofferenza, Mendel Lab, I-00198 Rome, Italy Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USAGuo, Shengru论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USAKonuk, Berrin论文数: 0 引用数: 0 h-index: 0机构: Ankara Univ, Sch Med, Div Pediat Genet, TR-06100 Ankara, Turkey Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USAKavaz, Asli论文数: 0 引用数: 0 h-index: 0机构: Ankara Univ, Sch Med, Div Pediat Genet, TR-06100 Ankara, Turkey Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USABlanton, Susan论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USADigilio, Maria Christina论文数: 0 引用数: 0 h-index: 0机构: IRCCS Bambino Gesu Children Hosp, I-00198 Rome, Italy Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USADallapiccola, Bruno论文数: 0 引用数: 0 h-index: 0机构: IRCCS Bambino Gesu Children Hosp, I-00198 Rome, Italy Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USAYoung, Juan论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USAZuchner, Stephan论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USATekin, Mustafa论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USA Ankara Univ, Sch Med, Div Pediat Genet, TR-06100 Ankara, Turkey Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA
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