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Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene.

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Title: Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene.
Authors: Rudy NL; Greenwood Genetic Center, Greenville, South Carolina, USA., Gomes A; Department of Pediatrics and Rady Children's Hospital, Division of Dysmorphology/Genetics, University of California San Diego, San Diego, California, USA., Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.; Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Tbilisi, Georgia., Abdul-Rahman O; Department of Pediatrics, New York-Presbyterian Weill Cornell Medicine, New York, New York, USA., Cratsenberg D; Genetic Medicine Division, Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska, USA., Pascolini G; Rare Diseases Center, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy., Di Zenzo G; Molecular and Cell Biology Laboratory, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy., Castiglia D; Molecular and Cell Biology Laboratory, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy., Black E; Greenwood Genetic Center, Greenville, South Carolina, USA., Washington C; Greenwood Genetic Center, Greenville, South Carolina, USA., Chad L; The Hospital for Sick Children, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada., Curry C; Department of Pediatrics, Genetic Medicine, University of California San Francisco/Fresno, California, USA., Del Campo M; Department of Pediatrics and Rady Children's Hospital, Division of Dysmorphology/Genetics, University of California San Diego, San Diego, California, USA., Fleischer N; FDNA Inc, Boston, Massachusetts, USA., Bird LM; Department of Pediatrics and Rady Children's Hospital, Division of Dysmorphology/Genetics, University of California San Diego, San Diego, California, USA., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Nov; Vol. 197 (11), pp. e64171. Date of Electronic Publication: 2025 Jul 04.
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
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  Data: Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene.
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  Data: <searchLink fieldCode="AU" term="%22Rudy+NL%22">Rudy NL</searchLink>; Greenwood Genetic Center, Greenville, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Gomes+A%22">Gomes A</searchLink>; Department of Pediatrics and Rady Children's Hospital, Division of Dysmorphology/Genetics, University of California San Diego, San Diego, California, USA.<br /><searchLink fieldCode="AU" term="%22Tkemaladze+T%22">Tkemaladze T</searchLink>; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.; Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Tbilisi, Georgia.<br /><searchLink fieldCode="AU" term="%22Abdul-Rahman+O%22">Abdul-Rahman O</searchLink>; Department of Pediatrics, New York-Presbyterian Weill Cornell Medicine, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Cratsenberg+D%22">Cratsenberg D</searchLink>; Genetic Medicine Division, Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska, USA.<br /><searchLink fieldCode="AU" term="%22Pascolini+G%22">Pascolini G</searchLink>; Rare Diseases Center, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Di+Zenzo+G%22">Di Zenzo G</searchLink>; Molecular and Cell Biology Laboratory, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Castiglia+D%22">Castiglia D</searchLink>; Molecular and Cell Biology Laboratory, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Black+E%22">Black E</searchLink>; Greenwood Genetic Center, Greenville, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Washington+C%22">Washington C</searchLink>; Greenwood Genetic Center, Greenville, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Chad+L%22">Chad L</searchLink>; The Hospital for Sick Children, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Curry+C%22">Curry C</searchLink>; Department of Pediatrics, Genetic Medicine, University of California San Francisco/Fresno, California, USA.<br /><searchLink fieldCode="AU" term="%22Del+Campo+M%22">Del Campo M</searchLink>; Department of Pediatrics and Rady Children's Hospital, Division of Dysmorphology/Genetics, University of California San Diego, San Diego, California, USA.<br /><searchLink fieldCode="AU" term="%22Fleischer+N%22">Fleischer N</searchLink>; FDNA Inc, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Bird+LM%22">Bird LM</searchLink>; Department of Pediatrics and Rady Children's Hospital, Division of Dysmorphology/Genetics, University of California San Diego, San Diego, California, USA.<br /><searchLink fieldCode="AU" term="%22Hurst+ACE%22">Hurst ACE</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2025 Nov; Vol. 197 (11), pp. e64171. <i>Date of Electronic Publication: </i>2025 Jul 04.
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