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The impact of clinical genome sequencing in a global population with suspected rare genetic disease.

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Title: The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Authors: Thorpe E; Illumina Inc, San Diego, CA, USA., Williams T; Genetic and Genomic Services PBC, Houston, TX, USA., Shaw C; Genetic and Genomic Services PBC, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Statistics, Rice University, Houston, TX, USA., Chekalin E; Illumina Inc, San Diego, CA, USA., Ortega J; Illumina Inc, San Diego, CA, USA; C2N Diagnostics, St. Louis, MO, USA., Robinson K; Illumina Inc, San Diego, CA, USA., Button J; Illumina Inc, San Diego, CA, USA., Jones MC; Rady Children's Hospital, San Diego, CA, USA; University of California, San Diego, San Diego, CA, USA., Campo MD; Rady Children's Hospital, San Diego, CA, USA; University of California, San Diego, San Diego, CA, USA., Basel D; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA., McCarrier J; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA., Keppen LD; Sanford USD Medical Center, Sioux Falls, SD, USA., Royer E; Sanford Children's Specialty Clinics at Sanford Health, USD Sanford School of Medicine, Sioux Falls, SD, USA., Foster-Bonds R; Rare Genomics Institute, Los Angeles, CA, USA., Duenas-Roque MM; Servicio de Genética, Hospital Edgardo Rebagliati Martins - EsSalud, Lima, Peru., Urraca N; University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, TN, USA., Bosfield K; University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, TN, USA., Brown CW; University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, TN, USA., Lydigsen H; University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, TN, USA., Mroczkowski HJ; University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, TN, USA., Ward J; University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, TN, USA., Sirchia F; Department of Molecular Medicine, University of Pavia, Pavia, Italy; Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy., Giorgio E; Department of Molecular Medicine, University of Pavia, Pavia, Italy; Medical Genetics Unit, IRCCS Mondino Foundation, Pavia, Italy., Vaux K; Point Loma Pediatrics, San Diego, CA, USA., Salguero HP; Padrino Children's Foundation, Todos Santos, B.C.S., Mexico., Lumaka A; Centre de Genetique Humaine, Universite de Kinshasa, Kinshasa, Democratic Republic of the Congo; Center for Human Genetics, Centre Hospitalier Universitaire, Liège, Belgium., Mubungu G; Centre de Genetique Humaine, Universite de Kinshasa, Kinshasa, Democratic Republic of the Congo., Makay P; Centre de Genetique Humaine, Universite de Kinshasa, Kinshasa, Democratic Republic of the Congo., Ngole M; Centre de Genetique Humaine, Universite de Kinshasa, Kinshasa, Democratic Republic of the Congo., Lukusa PT; Centre de Genetique Humaine, Universite de Kinshasa, Kinshasa, Democratic Republic of the Congo., Vanderver A; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Muirhead K; Ambry Genetics, Aliso Viejo, CA, USA., Sherbini O; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Lah MD; Indiana University School of Medicine, Indianapolis, IN, USA., Anderson K; Indiana University School of Medicine, Indianapolis, IN, USA., Bazalar-Montoya J; Instituto Nacional de Salud del Niño-San Borja, Lima, Peru., Rodriguez RS; Instituto Nacional de Salud del Niño-San Borja, Lima, Peru., Cornejo-Olivas M; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurologicas, Lima, Peru; Neurogenetics Working Group, Universidad Científica del Sur, Lima, Peru., Milla-Neyra K; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurologicas, Lima, Peru., Shinawi M; Washington University, St. Louis, MO, USA; St. Louis Children's Hospital, St. Louis, MO, USA., Magoulas P; Texas Children's Hospital, Houston, TX, USA., Henry D; UCSF Benioff Children's Hospitals, San Francisco, CA, USA., Gibson K; Canterbury District Health Board, Canterbury, New Zealand., Wiafe S; Rare Disease Ghana Initiative, Accra, Ghana., Jayakar P; Nicklaus Children's Health System, Miami, FL, USA., Salyakina D; Nicklaus Children's Health System, Miami, FL, USA., Masser-Frye D; Rady Children's Hospital, San Diego, CA, USA; San Diego-Imperial Counties Developmental Services, Inc., San Diego, CA, USA., Serize A; South Miami Hospital, South Miami, FL, USA., Perez JE; South Miami Hospital, South Miami, FL, USA., Taylor A; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Shenbagam S; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates., Abou Tayoun A; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates., Malhotra A; Illumina Inc, San Diego, CA, USA., Bennett M; Illumina Inc, San Diego, CA, USA., Rajan V; Illumina Inc, San Diego, CA, USA; Veracyte, San Diego, CA, USA., Avecilla J; Illumina Inc, San Diego, CA, USA., Warren A; Illumina Inc, San Diego, CA, USA., Arseneault M; Illumina Inc, San Diego, CA, USA., Kalista T; Illumina Inc, San Diego, CA, USA., Crawford A; Illumina Inc, San Diego, CA, USA., Ajay SS; Illumina Inc, San Diego, CA, USA., Perry DL; Illumina Inc, San Diego, CA, USA., Belmont J; Genetic and Genomic Services PBC, Houston, TX, USA., Taft RJ; Illumina Inc, San Diego, CA, USA. Electronic address: rtaft@geneticalliance.org.
Source: American journal of human genetics [Am J Hum Genet] 2024 Jul 11; Vol. 111 (7), pp. 1271-1281. Date of Electronic Publication: 2024 Jun 05.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 38843839
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
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  Data: The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
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University of Tennessee Health Science Center, Le Bonheur Children's Hospital, Memphis, TN, USA.<br /><searchLink fieldCode="AU" term="%22Sirchia+F%22">Sirchia F</searchLink>; Department of Molecular Medicine, University of Pavia, Pavia, Italy; Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Giorgio+E%22">Giorgio E</searchLink>; Department of Molecular Medicine, University of Pavia, Pavia, Italy; Medical Genetics Unit, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Vaux+K%22">Vaux K</searchLink>; Point Loma Pediatrics, San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Salguero+HP%22">Salguero HP</searchLink>; Padrino Children's Foundation, Todos Santos, B.C.S., Mexico.<br /><searchLink fieldCode="AU" term="%22Lumaka+A%22">Lumaka A</searchLink>; Centre de Genetique Humaine, Universite de Kinshasa, Kinshasa, Democratic Republic of the Congo; Center for Human Genetics, Centre Hospitalier Universitaire, Liège, Belgium.<br /><searchLink fieldCode="AU" term="%22Mubungu+G%22">Mubungu G</searchLink>; 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Illumina Inc, San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Bennett+M%22">Bennett M</searchLink>; Illumina Inc, San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Rajan+V%22">Rajan V</searchLink>; Illumina Inc, San Diego, CA, USA; Veracyte, San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Avecilla+J%22">Avecilla J</searchLink>; Illumina Inc, San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Warren+A%22">Warren A</searchLink>; Illumina Inc, San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Arseneault+M%22">Arseneault M</searchLink>; Illumina Inc, San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Kalista+T%22">Kalista T</searchLink>; Illumina Inc, San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Crawford+A%22">Crawford A</searchLink>; Illumina Inc, San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Ajay+SS%22">Ajay SS</searchLink>; Illumina Inc, San Diego, CA, USA.<br /><searchLink fieldCode="AU" term="%22Perry+DL%22">Perry DL</searchLink>; 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          Name:
            NameFull: Malhotra A
      – PersonEntity:
          Name:
            NameFull: Bennett M
      – PersonEntity:
          Name:
            NameFull: Rajan V
      – PersonEntity:
          Name:
            NameFull: Avecilla J
      – PersonEntity:
          Name:
            NameFull: Warren A
      – PersonEntity:
          Name:
            NameFull: Arseneault M
      – PersonEntity:
          Name:
            NameFull: Kalista T
      – PersonEntity:
          Name:
            NameFull: Crawford A
      – PersonEntity:
          Name:
            NameFull: Ajay SS
      – PersonEntity:
          Name:
            NameFull: Perry DL
      – PersonEntity:
          Name:
            NameFull: Belmont J
      – PersonEntity:
          Name:
            NameFull: Taft RJ
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 11
              M: 07
              Text: 2024 Jul 11
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 1537-6605
          Numbering:
            – Type: volume
              Value: 111
            – Type: issue
              Value: 7
          Titles:
            – TitleFull: American journal of human genetics
              Type: main
ResultId 1