InpherNet accelerates monogenic disease diagnosis using patients' candidate genes' neighbors.

Autor: Yoo B; Department of Computer Science, Stanford School of Engineering, Stanford, CA, USA., Birgmeier J; Department of Computer Science, Stanford School of Engineering, Stanford, CA, USA., Bernstein JA; Department of Pediatrics, Stanford School of Medicine, Stanford, CA, USA., Bejerano G; Department of Computer Science, Stanford School of Engineering, Stanford, CA, USA. bejerano@stanford.edu.; Department of Pediatrics, Stanford School of Medicine, Stanford, CA, USA. bejerano@stanford.edu.; Department of Developmental Biology, Stanford School of Medicine, Stanford, CA, USA. bejerano@stanford.edu.; Department of Biomedical Data Science, Stanford School of Medicine, Stanford, CA, USA. bejerano@stanford.edu.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Oct; Vol. 23 (10), pp. 1984-1992. Date of Electronic Publication: 2021 Jul 06.

Pheno-Ranker: a toolkit for comparison of phenotypic data stored in GA4GH standards and beyond.

Autor: Leist, Ivo C.^1,2 (AUTHOR) ivo.leist@cnag.eu, Rivas-Torrubia, María³ (AUTHOR) maria.rivas@genyo.es, Alarcón-Riquelme, Marta E.^3,4 (AUTHOR) marta.alarcon@genyo.es, Barturen, Guillermo^3,5,6 (AUTHOR) guillermo.barturen@genyo.es, Consortium, PRECISESADS Clinical³ (AUTHOR) tania.gomes@genyo.es, Gut, Ivo G.^1,2 (AUTHOR) ivo.gut@cnag.eu, Rueda, Manuel^1,2 (AUTHOR) manuel.rueda@cnag.eu

Publikováno v: BMC Bioinformatics. 12/4/2024, Vol. 25 Issue 1, p1-20. 20p.

Transcription factor expression defines subclasses of developing projection neurons highly similar to single-cell RNA-seq subtypes.

Autor: Heavner WE; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101.; Department of Biology, Stanford University, Stanford, CA 94305., Ji S; Department of Biology, Stanford University, Stanford, CA 94305., Notwell JH; Department of Computer Science, Stanford University, Stanford, CA 94305., Dyer ES; Stanford Institute for Theoretical Physics, Stanford University, Stanford, CA 94305.; Department of Physics and Astronomy, The Johns Hopkins University, Baltimore, MD 21218.; Google, Mountain View, CA 94043., Tseng AM; Department of Computer Science, Stanford University, Stanford, CA 94305., Birgmeier J; Department of Computer Science, Stanford University, Stanford, CA 94305., Yoo B; Department of Computer Science, Stanford University, Stanford, CA 94305., Bejerano G; Department of Computer Science, Stanford University, Stanford, CA 94305.; Department of Developmental Biology, Stanford University, Stanford, CA 94305.; Department of Pediatrics, Stanford University School of Medicine, Stanford University, Stanford, CA 94305.; Department of Biomedical Data Science, Stanford University, Stanford, CA 94305., McConnell SK; Department of Biology, Stanford University, Stanford, CA 94305; suemcc@stanford.edu.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2020 Oct 06; Vol. 117 (40), pp. 25074-25084. Date of Electronic Publication: 2020 Sep 18.

Twenty-first century mouse genetics is again at an inflection point.

Autor: Fang Z; Department of Anesthesia, Pain and Perioperative Medicine, Stanford University School of Medicine, Stanford, CA, USA., Peltz G; Department of Anesthesia, Pain and Perioperative Medicine, Stanford University School of Medicine, Stanford, CA, USA. gpeltz@stanford.edu.

Publikováno v: Lab animal [Lab Anim (NY)] 2024 Nov 26. Date of Electronic Publication: 2024 Nov 26.

Emergent high fatality lung disease in systemic juvenile arthritis.

Autor: Saper VE; Pediatrics, Stanford University, Stanford, California, USA., Chen G; Institute for Immunity, Transplantation and Infection, Center for Biomedical Informatics Research, Medicine, Stanford University, Stanford, California, USA., Deutsch GH; Pathology, Seattle Children's Hospital, Seattle, Washington, USA.; University of Washington School of Medicine, Seattle, Washington, USA., Guillerman RP; Radiology, Baylor College of Medicine, Houston, Texas, USA., Birgmeier J; Genetics, Stanford University, Stanford, California, USA., Jagadeesh K; Genetics, Stanford University, Stanford, California, USA., Canna S; Pediatrics, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA., Schulert G; Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Deterding R; Children's Hospital Colorado, Aurora, Colorado, USA.; University of Colorado School of Medicine, Aurora, Colorado, USA., Xu J; Pediatrics, Stanford University, Stanford, California, USA., Leung AN; Radiology, Stanford University, Stanford, California, USA., Bouzoubaa L; Public Health Services, Biostatistics, University of Miami School of Medicine, Miami, Florida, USA., Abulaban K; Helen DeVos Children's Hospital, Grand Rapids, Michigan, USA.; Michigan State University, East Lansing, Michigan, USA., Baszis K; Pediatrics, Washington University in Saint Louis, Saint Louis, Missouri, USA., Behrens EM; Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; University of Pennsylvania, Philadelphia, Pennsylvania, USA., Birmingham J; Medicine, Metro Health Hospital, Wyoming, Michigan, USA.; University of Michigan, Ann Arbor, Michigan, USA., Casey A; Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA., Cidon M; Pediatrics, Children's Hospital of Los Angeles, Los Angeles, California, USA.; University of Southern California, Los Angeles, California, USA., Cron RQ; Children's of Alabama, Birmingham, Alabama, USA.; University of Alabama at Birmingham, Birmingham, Alabama, USA., De A; Pediatrics, Columbia University Medical Center, New York, New York, USA., De Benedetti F; Rheumatology, Ospedale Pediatrico Bambino Gesu, Roma, Italy., Ferguson I; Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA., Fishman MP; Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA., Goodman SI; Arthritis Associates of South Florida, Delray Beach, Florida, USA., Graham TB; Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee, USA., Grom AA; Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Haines K; Joseph M Sanzari Children's Hospital, Hackensack, New Jersey, USA.; Hackensack University Medical Center, Hackensack, New Jersey, USA., Hazen M; Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA., Henderson LA; Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA., Ho A; Pediatrics, Prince of Wales Hospital, New Territories, Hong Kong.; Faculty of Medicine, Chinese University of Hong Kong, New Territories, Hong Kong., Ibarra M; Children's Mercy Hospitals and Clinics, Kansas City, Missouri, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, Missouri, USA., Inman CJ; Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah, USA., Jerath R; Children's Hospital of Georgia, Augusta, Georgia, USA.; Augusta University, Augusta, Georgia, USA., Khawaja K; Pediatrics, Al Mafraq Hospital, Abu Dhabi, Abu Dhabi, United Arab Emirates., Kingsbury DJ; Randall Children's Hospital at Legacy Emanuel, Portland, Oregon, USA., Klein-Gitelman M; Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Lai K; Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah, USA., Lapidus S; Joseph M Sanzari Children's Hospital, Hackensack, New Jersey, USA.; Hackensack University Medical Center, Hackensack, New Jersey, USA., Lin C; Children's Hospital Colorado, Aurora, Colorado, USA.; University of Colorado School of Medicine, Aurora, Colorado, USA., Lin J; Children's Hospital at Montefiore, Bronx, New York, USA.; Yeshiva University Albert Einstein College of Medicine, Bronx, New York, USA., Liptzin DR; Children's Hospital Colorado, Aurora, Colorado, USA.; University of Colorado School of Medicine, Aurora, Colorado, USA., Milojevic D; Johns Hopkins All Children's Hospital, Saint Petersburg, Florida, USA., Mombourquette J; Pediatrics, Kaiser Permanente Roseville Medical Center, Roseville, California, USA., Onel K; Pediatrics, Hospital for Special Surgery, New York, New York, USA.; Weill Cornell Medical College, New York, New York, USA., Ozen S; Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Perez M; Cook Children's Medical Center, Fort Worth, Texas, USA., Phillippi K; Akron Children's Hospital, Akron, Ohio, USA.; Northeast Ohio Medical University, Rootstown, Ohio, USA., Prahalad S; Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA.; Children's Healthcare of Atlanta, Atlanta, Georgia, USA., Radhakrishna S; Rady Children's Hospital, San Diego, California, USA.; Pediatrics, University of California San Diego, La Jolla, California, USA., Reinhardt A; Pediatrics, University of Nebraska Medical Center College of Medicine, Omaha, Nebraska, USA., Riskalla M; Pediatrics, University of Minnesota Medical School Twin Cities, Minneapolis, Minnesota, USA.; University of Minnesota Masonic Children's Hospital, Minneapolis, Minnesota, USA., Rosenwasser N; Pediatrics, Hospital for Special Surgery, New York, New York, USA.; Weill Cornell Medical College, New York, New York, USA., Roth J; Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Schneider R; Hospital for Sick Children, Toronto, Ontario, Canada.; Pediatrics, University of Toronto, Toronto, Ontario, Canada., Schonenberg-Meinema D; Emma Children's Hospital AMC, Amsterdam, The Netherlands.; University of Amsterdam, Amsterdam, Noord-Holland, The Netherlands., Shenoi S; University of Washington School of Medicine, Seattle, Washington, USA.; Pediatrics, Seattle Children's Hospital, Seattle, Washington, USA., Smith JA; Pediatrics, University of Wisconsin Madison School of Medicine and Public Health, Madison, Wisconsin, USA., Sönmez HE; Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey., Stoll ML; Children's of Alabama, Birmingham, Alabama, USA.; University of Alabama at Birmingham, Birmingham, Alabama, USA., Towe C; Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Vargas SO; Harvard Medical School, Boston, Massachusetts, USA.; Pathology, Boston Children's Hospital, Boston, Massachusetts, USA., Vehe RK; Pediatrics, University of Minnesota Medical School Twin Cities, Minneapolis, Minnesota, USA.; University of Minnesota Masonic Children's Hospital, Minneapolis, Minnesota, USA., Young LR; Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; University of Pennsylvania, Philadelphia, Pennsylvania, USA., Yang J; Institute for Immunity, Transplantation and Infection, Center for Biomedical Informatics Research, Medicine, Stanford University, Stanford, California, USA., Desai T; Medicine, Institute for Stem Cell Biology and Regenerative Medicine, Stanford University, Stanford, California, USA., Balise R; Public Health Services, Biostatistics, University of Miami School of Medicine, Miami, Florida, USA., Lu Y; Biomedical Data Science, Stanford University, Stanford, California, USA., Tian L; Biomedical Data Science, Stanford University, Stanford, California, USA., Bejerano G; Genetics, Stanford University, Stanford, California, USA., Davis MM; Institute for Immunity, Transplantation and Infection, Microbiology and Immunology, Stanford University, Stanford, California, USA., Khatri P; Institute for Immunity, Transplantation and Infection, Center for Biomedical Informatics Research, Medicine, Stanford University, Stanford, California, USA., Mellins ED; Pediatrics, Stanford University, Stanford, California, USA mellins@stanford.edu.

Publikováno v: Annals of the rheumatic diseases [Ann Rheum Dis] 2019 Dec; Vol. 78 (12), pp. 1722-1731. Date of Electronic Publication: 2019 Sep 27.