换一批
换一批Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
第一作者：
Nour,Elkhateeb
第一单位：
Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom. Electronic address: nour.elkhateeb@nhs.net.
作者：
Nour,Elkhateeb [1]
;
Renarta,Crookes [2]
;
Michael,Spiller [2]
;
Lisa,Pavinato [3]
;
Flavia,Palermo [4]
;
Alfredo,Brusco [5]
;
Michael,Parker [6]
;
Soo-Mi,Park [7]
;
Ariana Costa,Mendes [8]
;
Jorge M,Saraiva [9]
;
Trine Bjørg,Hammer [10]
;
Lusine,Nazaryan-Petersen [11]
;
Tahsin Stefan,Barakat [12]
;
Martina,Wilke [13]
;
Elizabeth,Bhoj [14]
;
Rebecca C,Ahrens-Nicklas [14]
;
Dong,Li [14]
;
Tomoki,Nomakuchi [14]
;
Eva H,Brilstra [15]
;
David,Hunt [16]
;
Diana,Johnson [6]
;
Sahar,Mansour [17]
;
Kathryn,Oprych [18]
;
Sarju G,Mehta [7]
;
Konrad,Platzer [19]
;
Franziska,Schnabel [19]
;
Henriette,Kiep [19]
;
Helene,Faust [19]
;
Gillian,Prinzing [20]
;
Kimberly,Wiltrout [20]
;
Jessica A,Radley [21]
;
Alvaro H,Serrano Russi [22]
;
Isis,Atallah [23]
;
Belinda,Campos-Xavier [23]
;
David J,Amor [24]
;
Angela T,Morgan [24]
;
Christina,Fagerberg [25]
;
Ulla A,Andersen [26]
;
Charlotte B,Andersen [27]
;
Emilia K,Bijlsma [28]
;
Lynne M,Bird [29]
;
Sureni V,Mullegama [30]
;
Andrew,Green [31]
;
Bertrand,Isidor [32]
;
Benjamin,Cogné [33]
;
Janna,Kenny [34]
;
Sally A,Lynch [34]
;
Shauna,Quin [34]
;
Karen,Low [35]
;
Theresia,Herget [36]
;
Fanny,Kortüm [36]
;
Rebecca J,Levy [37]
;
Jennifer L,Morrison [38]
;
Patricia G,Wheeler [38]
;
TaraChandra,Narumanch [39]
;
Kristina,Peron [39]
;
Nicole,Matthews [39]
;
Jillian,Uhlman [40]
;
Lauren,Bell [40]
;
Lewis,Pang [41]
;
Ingrid,Scurr [42]
;
Rebecca S,Belles [43]
;
Bonnie Anne,Salbert [43]
;
Gerald Bradley,Schaefer [44]
;
Sarah,Green [44]
;
Andrea,Ros [45]
;
Agustí,Rodríguez-Palmero [46]
;
Tanja,Višnjar [47]
;
Karin,Writzl [48]
;
Pradeep C,Vasudevan [49]
;
Meena,Balasubramanian [50]
作者单位：
Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom. Electronic address: nour.elkhateeb@nhs.net.
[1]
Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, United Kingdom.
[2]
Department of Medical Sciences, University of Turin, Turin, Italy; Institute of Oncology Research (IOR), Bellinzona Institutes of Science (BIOS(+)), Bellinzona, Switzerland; Faculty of Biomedical Sciences, Università della Svizzera Italiana, Lugano, Switzerland.
[3]
Department of Medical Sciences, University of Turin, Turin, Italy.
[4]
Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy.
[5]
Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom.
[6]
Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.
[7]
Medical Genetics Department, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.
[8]
Medical Genetics Department, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal; University Clinic of Pediatrics, Faculty of Medicine, University of Coimbra, Portugal; Clinical Academic Center of Coimbra, Hospital Pediátrico de Coimbra, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.
[9]
Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Department of Genetics, Rigshospitalet, Copenhagen, Denmark.
[10]
Department of Genetics, Rigshospitalet, Copenhagen, Denmark; Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
[11]
Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
[12]
Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
[13]
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
[14]
Department of Genetics and Brain Center, University Medical Center Utrecht, The Netherlands.
[15]
Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Trust, Southampton, United Kingdom.
[16]
South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, United Kingdom; School of Biological and Molecular Sciences, St George's University of London, London, United Kingdom.
[17]
South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, United Kingdom.
[18]
Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany; Division of Neuropaediatrics, Hospital for Children and Adolescents, University Hospital Leipzig, Leipzig, Germany.
[19]
Department of Neurology, Boston Children's Hospital, Boston, MA.
[20]
North West Thames Regional Genomics Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, United Kingdom.
[21]
Division of Genetics, Department of Pediatrics, East Tennessee State University (ETSU), Quillen College of Medicine, TN.
[22]
Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
[23]
Speech and Language, Murdoch Children's Research Institute, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
[24]
Department of Clinical Genetics, Odense University Hospital, Odense, Denmark; Department of Clinical Genetics, Lillebaelt Hospital, location Vejle Hospital, Vejle, Denmark.
[25]
Department of Mental Health, Odense University Hospital, Odense, Denmark.
[26]
Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
[27]
Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
[28]
Division of Genetics and Dysmorphology, Department of Pediatrics, University of California San Diego, Rady Children's Hospital, San Diego, CA.
[29]
GeneDx, Gaithersburg, MD.
[30]
Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland; University College Dublin School of Medicine and Medical Science, Dublin, Ireland.
[31]
Nantes Université, CNRS, INSERM, l'institut du thorax, Nantes, France; CHU Nantes, Service de Génétique Médicale, Nantes Université, CNRS, INSERM, l'institut du thorax, Nantes, France.
[32]
Nantes Université, CNRS, INSERM, l'institut du thorax, Nantes, France.
[33]
Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland.
[34]
Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom; Bristol Medical School, University of Bristol, United Kingdom.
[35]
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
[36]
Neurology and Neurological Sciences, Division of Child Neurology, Stanford University and Lucile Packard Children's Hospital, Palo Alto, CA.
[37]
Division of Genetics, Arnold Palmer Hospital for Children, Orlando, FL.
[38]
Division of Genetics, Department of Pediatrics, West Virginia University, Morgantown, WV.
[39]
University of Illinois College of Medicine, Peoria, IL.
[40]
Exeter Genomics Laboratory, RILD Building, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
[41]
Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.
[42]
Geisinger Health System, Danville, PA.
[43]
University of Arkansas for Medical Sciences, Little Rock, AR.
[44]
Department of Genetics, Hospital Universitari Germans Trias i Pujol, Catalonia, Spain.
[45]
Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Catalonia, Spain; Germans Trias i Pujol Research Institute (IGTP), Badalona, Barcelona, Spain.
[46]
Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
[47]
Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
[48]
Department of Clinical Genetics, Leicester Royal Infirmary, University Hospitals of Leicester NHS Trust, Leicester, United Kingdom.
[49]
Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom; Division of Clinical Medicine, University of Sheffield, Sheffield, United Kingdom. Electronic address: m.balasubramanian@sheffield.ac.uk.
[50]
主题词
人类(Humans);男(雄)性(Male);女(雌)性(Female);儿童(Child);表型(Phenotype);儿童, 学龄前(Child, Preschool);青少年(Adolescent);基因型(Genotype);回顾性研究(Retrospective Studies);婴儿(Infant);肌张力过低(Muscle Hypotonia);成年人(Adult);突变, 误义(Mutation, Missense);孤独性障碍(Autistic Disorder);肥胖症(Obesity)
DOI
10.1016/j.gim.2024.101348
PMID
39737487
发布时间
2025-03-08
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Genetics in medicine
Genetics in medicine
101348页
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