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Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.
Lin, Sheng-Jia; Vona, Barbara; Barbalho, Patricia G; Kaiyrzhanov, Rauan; Maroofian, Reza; Petree, Cassidy; Severino, Mariasavina; Stanley, Valentina; Varshney, Pratishtha; Bahena, Paulina; Alzahrani, Fatema; Alhashem, Amal; Pagnamenta, Alistair T; Aubertin, Gudrun; Estrada-Veras, Juvianee I; Hernández, Héctor Adrián Díaz; Mazaheri, Neda; Oza, Andrea; Thies, Jenny; Renaud, Deborah L; Dugad, Sanmati; McEvoy, Jennifer; Sultan, Tipu; Pais, Lynn S; Tabarki, Brahim; Villalobos-Ramirez, Daniel; Rad, Aboulfazl; Galehdari, Hamid; Ashrafzadeh, Farah; Sahebzamani, Afsaneh; Saeidi, Kolsoum; Torti, Erin; Elloumi, Houda Z; Mora, Sara; Palculict, Timothy B; Yang, Hui; Wren, Jonathan D; Joshi, Manali; Behra, Martine; Burgess, Shawn M; Nath, Swapan K; Hanna, Michael G; Kenna, Margaret; Merritt, J Lawrence; Houlden, Henry; Karimiani, Ehsan Ghayoor; Zaki, Maha S; Haaf, Thomas; Alkuraya, Fowzan S; Gleeson, Joseph G.
Affiliation
  • Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
  • Vona B; Department of Otolaryngology-Head & Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University of Tübingen, Tübingen, Germany.
  • Barbalho PG; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany.
  • Kaiyrzhanov R; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
  • Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
  • Petree C; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
  • Severino M; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
  • Stanley V; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Varshney P; Department of Neurosciences, Rady Children's Institute for Genomic Medicine, University of California San Diego, La Jolla, CA, USA.
  • Bahena P; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
  • Alzahrani F; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany.
  • Alhashem A; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Pagnamenta AT; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • Aubertin G; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Estrada-Veras JI; Division of Medical Genetics, Department of Pathology and Lab Medicine, Island Health, Victoria General Hospital, Victoria, BC, Canada.
  • Hernández HAD; Henry M Jackson Foundation for the Advancement of Military Medicine, Bethesda, MD, USA.
  • Mazaheri N; Pediatric Subspecialty Genetics Walter Reed National Military Medical Center, Bethesda, MD, USA.
  • Oza A; Murtha Cancer Center / Research Program, Department of Surgery, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.
  • Thies J; Department of Gastrointestinal Endoscopy, National Institute of Medical Sciences and Nutrition Salvador Zubirán, Mexico City, Mexico.
  • Renaud DL; Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
  • Dugad S; Narges Medical Genetics and Prenatal Diagnostics Laboratory, East Mihan Ave., Kianpars, Iran.
  • McEvoy J; Otolaryngology and Communication Enhancement, Boston Children's Hospital, and Dept. of Otolaryngology, Harvard medical School, Boston, USA.
  • Sultan T; Department of Biochemical Genetics, Seattle Children's Hospital, Seattle, WA, USA.
  • Pais LS; Departments of Neurology and Pediatrics, Mayo Clinic College of Medicine and Science, Rochester, MN, USA.
  • Tabarki B; Bioinformatics Centre, S. P. Pune University, Pune, India.
  • Villalobos-Ramirez D; Department of Neurosciences, Rady Children's Institute for Genomic Medicine, University of California San Diego, La Jolla, CA, USA.
  • Rad A; Department of Pediatric Neurology, Children's Hospital and Institute of Child Health, Lahore, Pakistan.
  • Galehdari H; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • Ashrafzadeh F; Department of Bioinformatics, Biocenter, University of Würzburg, Würzburg, Germany.
  • Sahebzamani A; Department of Otolaryngology-Head & Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University of Tübingen, Tübingen, Germany.
  • Torti E; Department of Gastrointestinal Endoscopy, National Institute of Medical Sciences and Nutrition Salvador Zubirán, Mexico City, Mexico.
  • Elloumi HZ; Department of Pediatric Diseases, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Mora S; Pediatric and Genetic Counselling Center, Kerman Welfare Organization, Kerman, Iran.
  • Palculict TB; Neuroscience Research Center, Institute of Neuropharmacology, Kerman University of Medical Sciences, Kerman, Iran.
  • Yang H; GeneDx, 207 Perry Parkway Gaithersburg, Gaithersburg, MD, USA.
  • Wren JD; GeneDx, 207 Perry Parkway Gaithersburg, Gaithersburg, MD, USA.
  • Ben Fowler; GeneDx, 207 Perry Parkway Gaithersburg, Gaithersburg, MD, USA.
  • Joshi M; GeneDx, 207 Perry Parkway Gaithersburg, Gaithersburg, MD, USA.
  • Behra M; GeneDx, 207 Perry Parkway Gaithersburg, Gaithersburg, MD, USA.
  • Burgess SM; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
  • Nath SK; Imaging core facility, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
  • Hanna MG; Bioinformatics Centre, S. P. Pune University, Pune, India.
  • Kenna M; Department of Neurobiology, University of Puerto Rico, San Juan, PR, USA.
  • Merritt JL; Translational & Functional Genomics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
  • Houlden H; Arthritis & Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.
  • Karimiani EG; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
  • Zaki MS; Otolaryngology and Communication Enhancement, Boston Children's Hospital, and Dept. of Otolaryngology, Harvard medical School, Boston, USA.
  • Haaf T; Department of Pediatrics, Biochemical Genetics, University of Washington, Seattle, WA, USA.
  • Alkuraya FS; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.
Genet Med ; 23(10): 1933-1943, 2021 10.
Article in En | MEDLINE | ID: mdl-34172899
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurodevelopmental Disorders / Hearing Loss / Lysine-tRNA Ligase Type of study: Prognostic_studies / Risk_factors_studies Limits: Animals / Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos
Fulltext
Add to My VHL
Print
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurodevelopmental Disorders / Hearing Loss / Lysine-tRNA Ligase Type of study: Prognostic_studies / Risk_factors_studies Limits: Animals / Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos