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- [1] Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorderGENETICS IN MEDICINE, 2025, 27 (03)Elkhateeb, Nour论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, England Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandCrookes, Renarta论文数: 0 引用数: 0 h-index: 0机构: Sheffield Childrens NHS Fdn Trust, Sheffield Diagnost Genet Serv, Sheffield, England Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandSpiller, Michael论文数: 0 引用数: 0 h-index: 0机构: Sheffield Childrens NHS Fdn Trust, Sheffield Diagnost Genet Serv, Sheffield, England Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandPavinato, Lisa论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Med Sci, Turin, Italy Bellinzona Inst Sci BIOS, Inst Oncol Res IOR, Bellinzona, Switzerland Univ Svizzera italiana, Fac Biomed Sci, Lugano, Switzerland Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandPalermo, Flavia论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandBrusco, Alfredo论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Neurosci Rita Levi Montalcini, Turin, Italy Citta Salute & Sci Univ Hosp, Med Genet Unit, Turin, Italy Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandParker, Michael论文数: 0 引用数: 0 h-index: 0机构: Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, England Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandPark, Soo-Mi论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandMendes, Ariana Costa论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Coimbra, Unidade Local Saude ULS Coimbra, Dept Med Genet, Coimbra, Portugal Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandSaraiva, Jorge M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat Coimbra, Unidade Local Saude ULS Coimbra, Dept Med Genet, Coimbra, Portugal Univ Coimbra, Univ Clin Pediat, Fac Med, Coimbra, Portugal Hosp Pediat Coimbra, Clin Acad Ctr Coimbra CACC, Coimbra, Portugal Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandNazaryan-Petersen, Lusine论文数: 0 引用数: 0 h-index: 0机构: Rigshosp, Dept Genet, Copenhagen, Denmark Univ Copenhagen, Fac Hlth & Med Sci, Dept Cellular & Mol Med, Copenhagen, Denmark Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandBarakat, Tahsin Stefan论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC Univ Med Ctr, Dept Clin Genet, Rotterdam, Netherlands Erasmus MC Univ Med Ctr, Dept Clin Genet, Discovery Unit, Rotterdam, Netherlands Erasmus MC Univ Med Ctr, ENCORE Expertise Ctr Neurodev Disorders, Rotterdam, Netherlands Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandWilke, Martina论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC Univ Med Ctr, Dept Clin Genet, Rotterdam, Netherlands Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandBhoj, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA USA Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandAhrens-Nicklas, Rebecca C.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA USA Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandLi, Dong论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA USA Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandNomakuchi, Tomoki论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA USA Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandBrilstra, Eva H.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Univ Med Ctr Utrecht, Brain Ctr, Utrecht, Netherlands Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandHunt, David论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Trust, Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, England Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandJohnson, Diana论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandMansour, Sahar论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ Hosp NHS Fdn Trust, South West Thames Reg Genet Serv, London, England Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandOprych, Kathryn论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ Hosp NHS Fdn Trust, South West Thames Reg Genet Serv, London, England Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandMehta, Sarju G.论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandPlatzer, Konrad论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ London, Sch Biol & Mol Sci, London, England Univ Leipzig, Med Ctr, Inst Human Genet, Leipzig, Germany Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandSchnabel, Franziska论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ London, Sch Biol & Mol Sci, London, England Univ Leipzig, Med Ctr, Inst Human Genet, Leipzig, Germany Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandKiep, Henriette论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leipzig, Hosp Children & Adolescents, Div Neuropediat, Leipzig, Germany Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandFaust, Helene论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandPrinzing, Gillian论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandWiltrout, Kimberly论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Neurol, Boston, MA USA Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandRadley, Jessica A.论文数: 0 引用数: 0 h-index: 0机构: London North West Univ Healthcare NHS Trust, Northwick Pk Hosp, North West Thames Reg Genet Serv, London, England Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, England论文数: 引用数: h-index:机构:Atallah, Isis论文数: 0 引用数: 0 h-index: 0机构: Univ Lausanne, Lausanne Univ Hosp, CH-1011 Lausanne, Switzerland Univ Lausanne, Lausanne, Switzerland Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, England论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Morgan, Angela T.论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Speech & Language, Melbourne, Vic, Australia Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandFagerberg, Christina论文数: 0 引用数: 0 h-index: 0机构: Lillebaelt Hosp, Locat Vejle Hosp, Dept Clin Oncol, Vejle, Denmark Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandAndersen, Ulla A.论文数: 0 引用数: 0 h-index: 0机构: Odense Univ Hosp, Dept Mental Hlth, Odense, Denmark Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandAndersen, Charlotte B.论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandBijlsma, Emilia K.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandBird, Lynne M.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Pediat, Div Genet & Dysmorphol, Rady Childrens Hosp, San Diego, CA USA Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandV. Mullegama, Sureni论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandGreen, Andrew论文数: 0 引用数: 0 h-index: 0机构: Childrens Hlth Ireland Crumlin, Dept Clin Genet, Dublin, Ireland Univ Coll Dublin, Sch Med & Med Sci, Dublin, Ireland Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandIsidor, Bertrand论文数: 0 引用数: 0 h-index: 0机构: Nantes Univ, Inst Thorax, CNRS, INSERM, Nantes, France Nantes Univ, CHU Nantes, CNRS, INSERM,Inst Thorax,Serv Genet, Nantes, France Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandCogne, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandKenny, Janna论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandLynch, Sally A.论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandQuin, Shauna论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandLow, Karen论文数: 0 引用数: 0 h-index: 0机构: Univ Bristol, Bristol Med Sch, Bristol, England Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandHerget, Theresia论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, EnglandKortum, Fanny论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Cambridge Univ Hosp NHS Fdn Trust, Dept Clin Genet, Cambridge, England
- [2] TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical developmentHUMAN MUTATION, 2021, 42 (04) : 445 - 459van Woerden, Geeske M.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands Erasmus MC, ENCORE Expertise Ctr Neurodev Disorders, Rotterdam, Netherlands Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsBos, Melanie论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Human Genet, NL-6500 GA Nijmegen, Netherlands Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlandsde Konink, Charlotte论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands论文数: 引用数: h-index:机构:Avagliano Trezza, Rossella论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsShur, Natasha E.论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Med Ctr, Rare Dis Inst, Div Genet & Metab, Washington, DC 20010 USA Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsBaranano, Kristin论文数: 0 引用数: 0 h-index: 0机构: Kennedy Krieger Inst, Dept Neurogenet, Baltimore, MD USA Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsMahida, Sonal论文数: 0 引用数: 0 h-index: 0机构: Kennedy Krieger Inst, Dept Neurogenet, Baltimore, MD USA Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsChassevent, Anna论文数: 0 引用数: 0 h-index: 0机构: Kennedy Krieger Inst, Dept Neurogenet, Baltimore, MD USA Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsSchreiber, Allison论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin, Genom Med Inst, Cleveland, OH 44106 USA Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsErwin, Angelika L.论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin, Genom Med Inst, Cleveland, OH 44106 USA Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsGripp, Karen W.论文数: 0 引用数: 0 h-index: 0机构: Nemours AI DuPont Hosp Children, Div Med Genet, Wilmington, DE USA Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsRehman, Fatima论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsBrulleman, Saskia论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsMcCormack, Roisin论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlandsde Geus, Gwynna论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsKalsner, Louisa论文数: 0 引用数: 0 h-index: 0机构: Connecticut Childrens Med Ctr, Dept Neurol, Farmington, CT USA Connecticut Childrens Med Ctr, Dept Pediat, Farmington, CT USA Univ Connecticut, Sch Med, Farmington, CT USA Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsSorlin, Arthur论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne Franche Comte, UMR1231, GAD, INSERM, Dijon, France CHU Dijon Bourgogne, FHU TRANSLAD, Unite Fonct Innovat Diagnost Genom Malad Rares, Dijon, France CHU Dijon Bourgogne, FHU TRANSLAD, Ctr Genet, Ctr Reference Malad Rares Anomalies Dev & Syndrom, Dijon, France Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsBruel, Ange-Line论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne Franche Comte, UMR1231, GAD, INSERM, Dijon, France CHU Dijon Bourgogne, FHU TRANSLAD, Unite Fonct Innovat Diagnost Genom Malad Rares, Dijon, France CHU Dijon Bourgogne, FHU TRANSLAD, Ctr Genet, Ctr Reference Malad Rares Anomalies Dev & Syndrom, Dijon, France Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsKoolen, David A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Human Genet, NL-6500 GA Nijmegen, Netherlands Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsGabriel, Melissa K.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Dept Clin Diagnost, Aliso Viejo, CA USA Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsRossi, Mari论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Dept Clin Diagnost, Aliso Viejo, CA USA Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsFitzpatrick, David R.论文数: 0 引用数: 0 h-index: 0机构: Univ Edinburgh, MRC Human Genet Unit, MRC IGMM, Edinburgh, Midlothian, Scotland Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsWilkie, Andrew O. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, MRC Weatherall Inst Mol Med, Clin Genet Grp, Oxford, England Oxford Univ Hosp NHS Fdn Trust, John Radcliffe Hosp, Oxford Craniofacial Unit, Oxford, England Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsCalpena, Eduardo论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, MRC Weatherall Inst Mol Med, Clin Genet Grp, Oxford, England Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsJohnson, David论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, John Radcliffe Hosp, Oxford Craniofacial Unit, Oxford, England Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsBrooks, Alice论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlandsvan Slegtenhorst, Marjon论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsFleischer, Julie论文数: 0 引用数: 0 h-index: 0机构: SIU Sch Med, Dept Pediat, Springfield, IL USA Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsGroepper, Daniel论文数: 0 引用数: 0 h-index: 0机构: SIU Sch Med, Dept Pediat, Springfield, IL USA Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsLindstrom, Kristin论文数: 0 引用数: 0 h-index: 0机构: Phoenix Childrens Hosp, Div Genet & Metab, Phoenix, AZ USA Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsInnes, 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, Cumming Sch Med, Calgary, AB, Canada Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsGoodwin, Allison论文数: 0 引用数: 0 h-index: 0机构: Clin Genet Serv, VCU Med Ctr, Richmond, VA USA Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsHumberson, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Univ Virginia, Med Ctr, Dept Pediat, Div Pediat Genet, Charlottesville, VA USA Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsNoyes, Amanda论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsLangley, Katherine G.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsTelegrafi, Aida论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsBlevins, Amy论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsHoffman, Jessica论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsGuillen Sacoto, Maria J.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsJuusola, Jane论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsMonaghan, Kristin G.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsPunj, Sumit论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsSimon, Marleen论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsPfundt, Rolph论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Human Genet, NL-6500 GA Nijmegen, Netherlands Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsElgersma, Ype论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands Erasmus MC, ENCORE Expertise Ctr Neurodev Disorders, Rotterdam, Netherlands Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, NetherlandsKleefstra, Tjitske论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Human Genet, NL-6500 GA Nijmegen, Netherlands Erasmus MC, Dept Neurosci, Dr Molewaterpl 40, NL-3015 GD Rotterdam, Netherlands
- [3] Neurodevelopmental disorder-associated mutations in TAOK1 reveal its function as a plasma membrane remodeling kinaseSCIENCE SIGNALING, 2023, 16 (766)Beeman, Neal论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pharmacol, Seattle, WA 98195 USA Univ Washington, Dept Pharmacol, Seattle, WA 98195 USASapre, Tanmay论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pharmacol, Seattle, WA 98195 USA Univ Washington, Dept Pharmacol, Seattle, WA 98195 USAOng, Shao-En论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pharmacol, Seattle, WA 98195 USA Univ Washington, Dept Pharmacol, Seattle, WA 98195 USAYadav, Smita论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pharmacol, Seattle, WA 98195 USA Univ Washington, Dept Pharmacol, Seattle, WA 98195 USA
- [4] De Novo Variants in TAOK1 Cause Neurodevelopmental DisordersAMERICAN JOURNAL OF HUMAN GENETICS, 2019, 105 (01) : 213 - 220Dulovic-Mahlow, Marija论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyTrinh, Joanne论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyKandaswamy, Krishna Kumar论文数: 0 引用数: 0 h-index: 0机构: Centogene AG, D-18055 Rostock, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyBraathen, Geir Julius论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp Trust, Dept Med Genet, N-3710 Skien, Norway Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, Germany论文数: 引用数: h-index:机构:Rahikkala, Elisa论文数: 0 引用数: 0 h-index: 0机构: Univ Oulu, Res Unit Pediat, Pediat Neurol Pediat Surg Child Psychiat Dermatol, Oys Oulu 90029, Finland Univ Oulu, Med Res Ctr Oulu, Oys Oulu 90029, Finland Oulu Univ Hosp, Oys Oulu 90029, Finland Oulu Univ Hosp, Dept Clin Genet, Oys Oulu 90029, Finland Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyBeblo, Skadi论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leipzig, Inst Human Genet, D-04103 Leipzig, Germany Univ Hosp, Hosp Children & Adolescents, Dept Women & Child Hlth, Ctr Pediat Res Leipzig, D-04103 Leipzig, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyWerber, Martin论文数: 0 引用数: 0 h-index: 0机构: Centogene AG, D-18055 Rostock, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyKrajka, Victor论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyBusk, Oyvind L.论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp Trust, Dept Med Genet, N-3710 Skien, Norway Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyBaumann, Hauke论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyAl-Sannaa, Nouriya Abbas论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Aramco Hlth Care, Dept Pediat Serv, Dhahran 34465, Saudi Arabia Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyHinrichs, Frauke论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyAffan, Rabea论文数: 0 引用数: 0 h-index: 0机构: Pronto Diagnost, IL-6158002 Tel Aviv, Israel Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyNavot, Nir论文数: 0 引用数: 0 h-index: 0机构: Pronto Diagnost, IL-6158002 Tel Aviv, Israel Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyAl Balwi, Mohammed A.论文数: 0 引用数: 0 h-index: 0机构: King Saud bin Abdulaziz Univ Hlth Sci, King Abdullah Int Med Res Ctr, King Abdulaziz Med City, Dept Pathol & Lab Med,Coll Med, Riyadh 11426, Saudi Arabia Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyOprea, Gabriela论文数: 0 引用数: 0 h-index: 0机构: Centogene AG, D-18055 Rostock, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyHolla, Oystein L.论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp Trust, Dept Med Genet, N-3710 Skien, Norway Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyWeiss, Maximilian E. R.论文数: 0 引用数: 0 h-index: 0机构: Centogene AG, D-18055 Rostock, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyJamra, Rami A.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leipzig, Inst Human Genet, D-04103 Leipzig, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyKahlert, Anne-Karin论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Dresden, Inst Clin Genet, Dresden, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyKishore, Shivendra论文数: 0 引用数: 0 h-index: 0机构: Centogene AG, D-18055 Rostock, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyTveten, Kristian论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp Trust, Dept Med Genet, N-3710 Skien, Norway Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyVos, Melissa论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyRolfs, Arndt论文数: 0 引用数: 0 h-index: 0机构: Centogene AG, D-18055 Rostock, Germany Univ Rostock, D-18147 Rostock, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, GermanyLohmann, Katja论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, Germany Univ Lubeck, Inst Neurogenet, D-23538 Lubeck, Germany
- [5] De novo mutations in TAOK1 cause neurodevelopmental disordersEUROPEAN JOURNAL OF NEUROLOGY, 2019, 26 : 82 - 82Braathen, G. J.论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp Trust, Dept Med Genet, Skien, Norway Telemark Hosp Trust, Dept Med Genet, Skien, NorwayDulovic-Mahlow, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, Germany Telemark Hosp Trust, Dept Med Genet, Skien, NorwayTrinh, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, Germany Telemark Hosp Trust, Dept Med Genet, Skien, NorwayKandaswamy, K. K.论文数: 0 引用数: 0 h-index: 0机构: Centogene AG, Rostock, Germany Telemark Hosp Trust, Dept Med Genet, Skien, NorwayWerber, M.论文数: 0 引用数: 0 h-index: 0机构: Centogene AG, Rostock, Germany Telemark Hosp Trust, Dept Med Genet, Skien, NorwayKrajka, V.论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, Germany Telemark Hosp Trust, Dept Med Genet, Skien, NorwayBusk, O. L.论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp Trust, Dept Med Genet, Skien, Norway Telemark Hosp Trust, Dept Med Genet, Skien, NorwayOprea, G.论文数: 0 引用数: 0 h-index: 0机构: Centogene AG, Rostock, Germany Telemark Hosp Trust, Dept Med Genet, Skien, NorwayHolla, O. L.论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp Trust, Dept Med Genet, Skien, Norway Telemark Hosp Trust, Dept Med Genet, Skien, NorwayDidonato, N.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Dresden, Inst Clin Genet, Dresden, Germany Telemark Hosp Trust, Dept Med Genet, Skien, NorwayWeiss, M. E.论文数: 0 引用数: 0 h-index: 0机构: Centogene AG, Rostock, Germany Telemark Hosp Trust, Dept Med Genet, Skien, NorwayKahlert, A. -K.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Dresden, Inst Clin Genet, Dresden, Germany Telemark Hosp Trust, Dept Med Genet, Skien, NorwayKishore, S.论文数: 0 引用数: 0 h-index: 0机构: Centogene AG, Rostock, Germany Telemark Hosp Trust, Dept Med Genet, Skien, NorwayTveten, K.论文数: 0 引用数: 0 h-index: 0机构: Telemark Hosp Trust, Dept Med Genet, Skien, Norway Telemark Hosp Trust, Dept Med Genet, Skien, NorwayVos, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, Germany Telemark Hosp Trust, Dept Med Genet, Skien, NorwayRolfs, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Rostock, Rostock, Germany Telemark Hosp Trust, Dept Med Genet, Skien, NorwayLohmann, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Neurogenet, Lubeck, Germany Telemark Hosp Trust, Dept Med Genet, Skien, Norway
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- [10] Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disordersBMC MEDICAL GENOMICS, 2024, 17 (01)Cavalli, Anna论文数: 0 引用数: 0 h-index: 0机构: Azienda USL IRCCS Reggio Emilia, Arcispedale Santa Maria Nuova, Dipartimento Maternoinfantile, Child Neurol & Psychiat Unit, I-42123 Reggio Emilia, Italy Azienda USL IRCCS Reggio Emilia, Arcispedale Santa Maria Nuova, Dipartimento Maternoinfantile, Child Neurol & Psychiat Unit, I-42123 Reggio Emilia, ItalyCaraffi, Stefano Giuseppe论文数: 0 引用数: 0 h-index: 0机构: Azienda USL IRCCS Reggio Emilia, Dipartimento Maternoinfantile, Med Genet Unit, Arcispedale Santa Maria Nuova, I-42123 Reggio Emilia, Italy Azienda USL IRCCS Reggio Emilia, Arcispedale Santa Maria Nuova, Dipartimento Maternoinfantile, Child Neurol & Psychiat Unit, I-42123 Reggio Emilia, ItalyRizzi, Susanna论文数: 0 引用数: 0 h-index: 0机构: Azienda USL IRCCS Reggio Emilia, Arcispedale Santa Maria Nuova, Dipartimento Maternoinfantile, Child Neurol & Psychiat Unit, I-42123 Reggio Emilia, Italy Azienda USL IRCCS Reggio Emilia, Arcispedale Santa Maria Nuova, Dipartimento Maternoinfantile, Child Neurol & Psychiat Unit, I-42123 Reggio Emilia, ItalyTrimarchi, Gabriele论文数: 0 引用数: 0 h-index: 0机构: Azienda USL IRCCS Reggio Emilia, Dipartimento Maternoinfantile, Med Genet Unit, Arcispedale Santa Maria Nuova, I-42123 Reggio Emilia, Italy Azienda USL IRCCS Reggio Emilia, Arcispedale Santa Maria Nuova, Dipartimento Maternoinfantile, Child Neurol & Psychiat Unit, I-42123 Reggio Emilia, ItalyNapoli, Manuela论文数: 0 引用数: 0 h-index: 0机构: Azienda USL IRCCS Reggio Emilia, Neuroradiol Unit, Arcispedale Santa Maria Nuova, I-42123 Reggio Emilia, Italy Azienda USL IRCCS Reggio Emilia, Arcispedale Santa Maria Nuova, Dipartimento Maternoinfantile, Child Neurol & Psychiat Unit, I-42123 Reggio Emilia, ItalyFrattini, Daniele论文数: 0 引用数: 0 h-index: 0机构: Azienda USL IRCCS Reggio Emilia, Arcispedale Santa Maria Nuova, Dipartimento Maternoinfantile, Child Neurol & Psychiat Unit, I-42123 Reggio Emilia, Italy Azienda USL IRCCS Reggio Emilia, Arcispedale Santa Maria Nuova, Dipartimento Maternoinfantile, Child Neurol & Psychiat Unit, I-42123 Reggio Emilia, ItalySpagnoli, Carlotta论文数: 0 引用数: 0 h-index: 0机构: Azienda USL IRCCS Reggio Emilia, Arcispedale Santa Maria Nuova, Dipartimento Maternoinfantile, Child Neurol & Psychiat Unit, I-42123 Reggio Emilia, Italy Azienda USL IRCCS Reggio Emilia, Arcispedale Santa Maria Nuova, Dipartimento Maternoinfantile, Child Neurol & Psychiat Unit, I-42123 Reggio Emilia, ItalyGaravelli, Livia论文数: 0 引用数: 0 h-index: 0机构: Azienda USL IRCCS Reggio Emilia, Dipartimento Maternoinfantile, Med Genet Unit, Arcispedale Santa Maria Nuova, I-42123 Reggio Emilia, Italy Azienda USL IRCCS Reggio Emilia, Arcispedale Santa Maria Nuova, Dipartimento Maternoinfantile, Child Neurol & Psychiat Unit, I-42123 Reggio Emilia, ItalyFusco, Carlo论文数: 0 引用数: 0 h-index: 0机构: Azienda USL IRCCS Reggio Emilia, Arcispedale Santa Maria Nuova, Dipartimento Maternoinfantile, Child Neurol & Psychiat Unit, I-42123 Reggio Emilia, Italy Azienda USL IRCCS Reggio Emilia, Arcispedale Santa Maria Nuova, Dipartimento Maternoinfantile, Child Neurol & Psychiat Unit, I-42123 Reggio Emilia, Italy