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The Rare Diseases Clinical Research Network: a model for clinical trial readiness.

Autor: Lumsden JM; Division of Rare Diseases Research Innovation, National Center for Advancing Translational Sciences, National Institutes of Health, 6801 Democracy Boulevard, Bethesda, MD 20892-0001, USA., Urv TK; Division of Rare Diseases Research Innovation, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.

Publikováno v: Therapeutic advances in rare disease [Ther Adv Rare Dis] 2023 Dec 26; Vol. 4, pp. 26330040231219272. Date of Electronic Publication: 2023 Dec 26 (Print Publication: 2023).

Gene-targeted therapies: Overview and implications.

Autor: Brooks PJ; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland, USA., Urv TK; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland, USA., Parisi MA; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.

Publikováno v: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2023 Mar; Vol. 193 (1), pp. 13-18. Date of Electronic Publication: 2023 Mar 02.

When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective.

Autor: Parisi MA; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Caggana M; Wadsworth Center, New York State Department of Health, Division of Genetics, Albany, New York, USA., Cohen JL; Duke University School of Medicine, Durham, North Carolina, USA., Gold NB; Massachusetts General Hospital for Children, Boston, Massachusetts, USA., Morris JA; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA., Orsini JJ; New York State Department of Health, Wadsworth Center, Albany, New York, USA., Urv TK; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland, USA., Wasserstein MP; Albert Einstein College of Medicine and the Children's Hospital at Montefiore, Bronx, New York, USA.

Publikováno v: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2023 Mar; Vol. 193 (1), pp. 44-55. Date of Electronic Publication: 2023 Mar 06.

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Autor: Camp KM; Office of Dietary Supplements, National Institutes of Health, Bethesda, MD 20982, USA. Electronic address: campkm@od.nih.gov., Parisi MA; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: parisima@mail.nih.gov., Acosta PB; Emory University, Atlanta, GA 30033, USA. Electronic address: pja1933@gmail.com., Berry GT; Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address: gerard.berry@childrens.harvard.edu., Bilder DA; Department of Psychiatry, University of Utah, Salt Lake City, UT 84108, USA. Electronic address: deborah.bilder@hsc.utah.edu., Blau N; University Children's Hospital, Heidelberg, Germany; University Children's Hospital, Zürich, Switzerland. Electronic address: nenad.blau@med.uni-heidelberg.de., Bodamer OA; University of Miami Miller School of Medicine, Miami, FL 33136, USA. Electronic address: obodamer@med.miami.edu., Brosco JP; University of Miami Mailman Center for Child Development, Miami, FL 33101, USA. Electronic address: jbrosco@med.miami.edu., Brown CS; National PKU Alliance, USA. Electronic address: christine.brown@npkua.org., Burlina AB; University Hospital, 35128 Padova, Italy. Electronic address: alberto.burlina@unipd.it., Burton BK; Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA. Electronic address: bburton@luriechildrens.org., Chang CS; Agency for Healthcare Research and Quality, Rockville, MD 20850, USA. Electronic address: christine.chang@ahrq.hhs.gov., Coates PM; Office of Dietary Supplements, National Institutes of Health, Bethesda, MD 20982, USA. Electronic address: coatesp@od.nih.gov., Cunningham AC; Tulane University Medical School, Hayward Genetics Center, New Orleans, LA 70112, USA. Electronic address: acunnin@tulane.edu., Dobrowolski SF; University of Pittsburgh, Pittsburgh, PA 15224, USA. Electronic address: dobrowolskis@upmc.edu., Ferguson JH; Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD 20982, USA. Electronic address: jferg@helix.nih.gov., Franklin TD; National PKU Alliance, USA. Electronic address: tom.franklin@npkua.org., Frazier DM; University of North Carolina, Chapel Hill, NC 27599, USA. Electronic address: dianne_frazier@med.unc.edu., Grange DK; Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63110, USA. Electronic address: grange_d@kids.wustl.edu., Greene CL; University of Maryland School of Medicine, Baltimore, MD 21201, USA. Electronic address: cgreene@peds.umaryland.edu., Groft SC; Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD 20982, USA. Electronic address: stephen.groft@nih.gov., Harding CO; Oregon Health & Science University, Portland, OR 97239, USA. Electronic address: hardingc@ohsu.edu., Howell RR; University of Miami Miller School of Medicine, Miami, FL 33136, USA. Electronic address: rhowell@miami.edu., Huntington KL; Oregon Health & Science University, Portland, OR 97239, USA. Electronic address: huntingt@ohsu.edu., Hyatt-Knorr HD; Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD 20982, USA. Electronic address: henrietta.hyatt-knorr@nih.gov., Jevaji IP; Office of Research on Women's Health, National Institutes of Health, Bethesda, MD 20817, USA. Electronic address: indira.jevaji@cms.hhs.gov., Levy HL; Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address: harvey.levy@childrens.harvard.edu., Lichter-Konecki U; George Washington University, Children's National Medical Center, Washington, DC 20010, USA. Electronic address: ulichter@cnmc.org., Lindegren ML; Vanderbilt University School of Medicine, Nashville TN 37203, USA. Electronic address: marylou.lindegren@vanderbilt.edu., Lloyd-Puryear MA; Office of Dietary Supplements, National Institutes of Health, Bethesda, MD 20982, USA. Electronic address: lloydpuryearma@od.nih.gov., Matalon K; University of Houston, Houston, TX 77204, USA. Electronic address: kmatalon@uh.edu., MacDonald A; Birmingham Children's Hospital, Birmingham B4 6NH, UK. Electronic address: anita.macdonald@bch.nhs.uk., McPheeters ML; Vanderbilt Evidence-based Practice Center, Institute for Medicine and Public Health, Nashville, TN 37203, USA. Electronic address: melissa.mcpheeters@vanderbilt.edu., Mitchell JJ; McGill University Health Center, Montreal, Quebec H3H 1P3, Canada. Electronic address: john.mitchell@muhc.mcgill.ca., Mofidi S; Maria Fareri Children's Hospital of Westchester Medical Center, Valhalla, NY 10595, USA. Electronic address: shideh_mofidi@nymc.edu., Moseley KD; University of Southern California Keck School of Medicine, Los Angeles, CA 90033, USA. Electronic address: kmoseley@usc.edu., Mueller CM; Office of Orphan Products Development, U.S. Food and Drug Administration, Silver Spring, MD 20993, USA. Electronic address: christine.mueller@nih.gov., Mulberg AE; Center for Drug Evaluation and Research, U.S. Food and Drug Administration, Silver Spring, MD 20993, USA. Electronic address: andrew.mulberg@fda.hhs.gov., Nerurkar LS; Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD 20982, USA. Electronic address: lnerurkar@gmail.com., Ogata BN; University of Washington, Seattle, WA 98195, USA. Electronic address: bogata@uw.edu., Pariser AR; Center for Drug Evaluation and Research, U.S. Food and Drug Administration, Silver Spring, MD 20993, USA. Electronic address: anne.pariser@fda.hhs.gov., Prasad S; BioMarin Pharmaceutical Inc., San Rafael, CA 94901, USA. Electronic address: sprasad@bmrn.com., Pridjian G; Tulane University Medical School, Hayward Genetics Center, New Orleans, LA 70112, USA. Electronic address: pridjian@tulane.edu., Rasmussen SA; Centers for Disease Control and Prevention, Atlanta, GA 30333, USA. Electronic address: skr9@cdc.gov., Reddy UM; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: reddyu@mail.nih.gov., Rohr FJ; Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: frances.rohr@childrens.harvard.edu., Singh RH; Emory University, Atlanta, GA 30033, USA. Electronic address: rsingh@emory.edu., Sirrs SM; Vancouver General Hospital, University of British Columbia, Vancouver V5Z 1M9, Canada. Electronic address: sandra.sirrs@vch.ca., Stremer SE; PKU & Allied Disorders of Wisconsin, Madison, WI 53705, USA. Electronic address: sstremer@yahoo.com., Tagle DA; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: danilo.tagle@nih.gov., Thompson SM; The Children's Hospital at Westmead, Sydney, NSW 2145, Australia. Electronic address: sue.thompson@health.nsw.gov.au., Urv TK; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: urvtiin@mail.nih.gov., Utz JR; University of Minnesota, Minneapolis, MN 55455, USA. Electronic address: jutz1@fairview.org., van Spronsen F; University of Groningen, University Medical Center of Groningen, Beatrix Children's Hospital, Netherlands. Electronic address: f.j.van.spronsen@umcg.nl., Vockley J; University of Pittsburgh, Pittsburgh, PA 15224, USA. Electronic address: vockleyg@upmc.edu., Waisbren SE; Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address: susan.waisbren@childrens.harvard.edu., Weglicki LS; National Institute of Nursing Research, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: weglickils@mail.nih.gov., White DA; Department of Psychology, Washington University, St. Louis, MO 63130, USA. Electronic address: dawhite@wustl.edu., Whitley CB; University of Minnesota, Minneapolis, MN 55455, USA. Electronic address: whitley@umn.edu., Wilfond BS; Seattle Children's Research Institute, University of Washington School of Medicine, Seattle, WA 98101, USA. Electronic address: benjamin.wilfond@seattlechildrens.org., Yannicelli S; Nutricia North America, Rockville, MD 20850, USA. Electronic address: steven.yannicelli@nutricia.com., Young JM; The Young Face, Facial Plastic and Reconstructive Surgery, Cumming, GA 30041, USA. Electronic address: jmichaelyoung@yahoo.com.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2014 Jun; Vol. 112 (2), pp. 87-122. Date of Electronic Publication: 2014 Mar 06.