المؤلفون: Brownstein, CA, Beggs, AH, Homer, N, Merriman, B, Yu, TW, Flannery, KC, DeChene, ET, Towne, MC, Savage, SK, Price, EN, Holm, IA, Luquette, LJ, Lyon, E, Majzoub, J, Neupert, P, McCallie, D, Szolovits, P, Willard, HF, Mendelsohn, NJ, Temme, R, Finkel, RS, Yum, SW, Medne, L, Sunyaev, SR, Adzhubey, I, Cassa, CA, de Bakker, PIW, Duzkale, H, Dworzynski, P, Fairbrother, W, Francioli, L, Funke, BH, Giovanni, MA, Handsaker, RE, Lage, K, Lebo, MS, Lek, M, Leshchiner, I, MacArthur, DG, McLaughlin, HM, Murray, MF, Pers, TH, Polak, PP, Raychaudhuri, S, Rehm, HL, Soemedi, R, Stitziel, NO, Vestecka, S, Supper, J, Gugenmus, C, Klocke, B, Hahn, A, Schubach, M, Menzel, M, Biskup, S, Freisinger, P, Deng, M, Braun, M, Perner, S, Smith, RJH, Andorf, JL, Huang, J, Ryckman, K, Sheffield, VC, Stone, EM, Bair, T, Black-Ziegelbein, EA, Braun, TA, Darbro, B, DeLuca, AP, Kolbe, DL, Scheetz, TE, Shearer, AE, Sompallae, R, Wang, K, Bassuk, AG, Edens, E, Mathews, K, Moore, SA, Shchelochkov, OA, Trapane, P, Bossler, A, Campbell, CA, Heusel, JW, Kwitek, A, Maga, T, Panzer, K, Wassink, T, Van Daele, D, Azaiez, H, Booth, K, Meyer, N, Segal, MM, Williams, MS, Tromp, G, White, P, Corsmeier, D, Fitzgerald-Butt, S, Herman, G, Lamb-Thrush, D, McBride, KL, Newsom, D, Pierson, CR, Rakowsky, AT, Maver, A, Lovrecic, L, Palandacic, A, Peterlin, B, Torkamani, A, Wedell, A, Huss, M, Alexeyenko, A, Lindvall, JM, Magnusson, M, Nilsson, D, Stranneheim, H, Taylan, F, Gilissen, C, Hoischen, A, van Bon, B, Yntema, H, Nelen, M, Zhang, WD, Sager, J, Zhang, L, Blair, K, Kural, D, Cariaso, M, Lennon, GG, Javed, A, Agrawal, S, Ng, PC, Sandhu, KS, Krishna, S, Veeramachaneni, V, Isakov, O, Halperin, E, Friedman, E, Shomron, N, Glusman, G, Roach, JC, Caballero, J, Cox, HC, Mauldin, D, Ament, SA, Rowen, L, Richards, DR, San Lucas, FA, Gonzalez-Garay, ML, Caskey, CT, Bai, Y, Huang, Y, Fang, F, Zhang, Y, Wang, ZY, Barrera, J, Garcia-Lobo, JM, Gonzalez-Lamuno, D, Llorca, J, Rodriguez, MC, Varela, I, Reese, MG, De la Vega, FM, Kiruluta, E, Cargill, M, Hart, RK, Sorenson, JM, Lyon, GJ, Stevenson, DA, Bray, BE, Moore, BM, Eilbeck, K, Yandell, M, Zhao, HY, Hou, L, Chen, XW, Yan, XT, Chen, MJ, Li, C, Yang, C, Gunel, M, Li, PN, Kong, Y, Alexander, AC, Albertyn, ZI, Boycott, KM, Bulman, DE, Gordon, PMK, Innes, AM, Knoppers, BM, Majewski, J, Marshall, CR, Parboosingh, JS, Sawyer, SL, Samuels, ME, Schwartzentruber, J, Kohane, IS, Margulies, DM

المصدر: Genome biology. 15(3):R53

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:129420736

المؤلفون: Kennedy BJ; Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, Ohio, USA., Savage SK; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Kaler SG; Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, Ohio, USA.; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 May; Vol. 12 (5), pp. e2436.

نوع المنشور: Journal Article; Case Reports; Review; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Trisomy*/genetics, Humans ; Male ; Chromosome Duplication ; Child, Preschool ; Twins, Monozygotic/genetics ; Polymorphism, Single Nucleotide

المؤلفون: Gordon EJ; Department of Surgery, Center for Biomedical Ethics and Society, Vanderbilt University Medical Center, 1161 21St Avenue South, D-4314 Medical Center North Nashville, Nashville, TN, 37232-2730, USA. elisa.gordon@vumc.org., Gacki-Smith J; Center for Health Services and Outcomes Research, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Gooden MJ; Center for Health Services and Outcomes Research, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Waite P; Center for Health Services and Outcomes Research, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Yacat R; Medstar Georgetown Transplant Institute, Georgetown University Hospital, Washington, DC, USA., Abubakari ZR; Medstar Georgetown Transplant Institute, Georgetown University Hospital, Washington, DC, USA., Duquette D; Medicine, Cardiology Division, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Agrawal A; Division of Nephrology and Hypertension, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Friedewald J; Division of Nephrology and Hypertension, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Savage SK; Invitae Corporation, San Francisco, CA, USA., Cooper M; Froedtert Hospital Center for Advanced Care, Froedtert Memorial Lutheran Hospital Children's Hospital of Wisconsin Medical College of Wisconsin, Milwaukee, WI, USA.; Children's Hospital of Wisconsin, Milwaukee, WI, USA.; Medical College of Wisconsin, Milwaukee, WI, USA.; Froedtert Hospital Center for Advanced Care, Milwaukee, WI, USA., Gilbert A; Medstar Georgetown Transplant Institute, Georgetown University Hospital, Washington, DC, USA., Muhammad LN; Department of Preventive Medicine, Division of Biostatistics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Wicklund C; Department of Obstetrics and Gynecology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.

المصدر: Journal of community genetics [J Community Genet] 2024 Apr; Vol. 15 (2), pp. 205-216. Date of Electronic Publication: 2024 Feb 13.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Country of Publication: Germany NLM ID: 101551501 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1868-310X (Print) Linking ISSN: 1868310X NLM ISO Abbreviation: J Community Genet Subsets: PubMed not MEDLINE

المؤلفون: Savage SK; Invitae Corporation, San Francisco, CA, United States., LoTempio J; Institute for Clinical and Translational Science, University of California, Irvine, CA, United States., Smith ED; Invitae Corporation, San Francisco, CA, United States., Andrew EH; Division of Genetics and Metabolism, Children's National Rare Disease Institute, Washington, DC, United States.; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, United States., Mas G; Invitae Corporation, San Francisco, CA, United States., Kahn-Kirby AH; Invitae Corporation, San Francisco, CA, United States.; Institute for Clinical and Translational Science, University of California, Irvine, CA, United States., Délot E; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, United States.; Department of Genomics and Precision Medicine, George Washington University, Washington, DC, United States., Cohen AJ; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, United States., Pitsava G; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, United States., Nussbaum R; Invitae Corporation, San Francisco, CA, United States., Fusaro VA; Invitae Corporation, San Francisco, CA, United States.; Institute for Clinical and Translational Science, University of California, Irvine, CA, United States., Berger S; Division of Genetics and Metabolism, Children's National Rare Disease Institute, Washington, DC, United States.; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, United States.; Department of Genomics and Precision Medicine, George Washington University, Washington, DC, United States., Vilain E; Institute for Clinical and Translational Science, University of California, Irvine, CA, United States.; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, United States.; Department of Genomics and Precision Medicine, George Washington University, Washington, DC, United States.

المصدر: Journal of the American Medical Informatics Association : JAMIA [J Am Med Inform Assoc] 2024 Jan 18; Vol. 31 (2), pp. 472-478.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9430800 Publication Model: Print Cited Medium: Internet ISSN: 1527-974X (Electronic) Linking ISSN: 10675027 NLM ISO Abbreviation: J Am Med Inform Assoc Subsets: MEDLINE

مواضيع طبية MeSH: Informed Consent* , Genomics*, Humans ; Prospective Studies ; Software ; Communication

المؤلفون: Walters NL; Geisinger, 100 N. Academy Avenue, Danville, PA 17822, USA., Lindsey-Mills ZT; Geisinger, 100 N. Academy Avenue, Danville, PA 17822, USA., Brangan A; Geisinger, 100 N. Academy Avenue, Danville, PA 17822, USA., Savage SK; Invitae, 1400 16 Street, San Francisco, CA 94103, USA., Schmidlen TJ; Invitae, 1400 16 Street, San Francisco, CA 94103, USA., Morgan KM; Geisinger, 100 N. Academy Avenue, Danville, PA 17822, USA., Tricou EP; Geisinger, 100 N. Academy Avenue, Danville, PA 17822, USA.; Family Heart Foundation, 959 East Walnut Street Suite 220, Pasadena, CA 91106, USA., Betts MM; Geisinger, 100 N. Academy Avenue, Danville, PA 17822, USA.; WellSpan Health, 45 Monument Road Suite 200, York 17403, PA, USA., Jones LK; Geisinger, 100 N. Academy Avenue, Danville, PA 17822, USA., Sturm AC; Geisinger, 100 N. Academy Avenue, Danville, PA 17822, USA.; 23andMe, 223 N Mathilda Avenue, Sunnyvale, CA 94086, USA., Campbell-Salome G; Geisinger, 100 N. Academy Avenue, Danville, PA 17822, USA.

المصدر: PEC innovation [PEC Innov] 2023 Feb 04; Vol. 2, pp. 100134. Date of Electronic Publication: 2023 Feb 04 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 9918367980406676 Publication Model: eCollection Cited Medium: Internet ISSN: 2772-6282 (Electronic) Linking ISSN: 27726282 NLM ISO Abbreviation: PEC Innov Subsets: PubMed not MEDLINE

المؤلفون: Smith ED; Invitae Corporation, San Francisco, CA, USA., Savage SK; Invitae Corporation, San Francisco, CA, USA., Andrew EH; Children's National Rare Disease Institute, Division of Genetics and Metabolism, Washington, DC, USA.; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA., Martin GM; Invitae Corporation, San Francisco, CA, USA., Kahn-Kirby AH; Invitae Corporation, San Francisco, CA, USA., LoTempio J; Institute for Clinical and Translational Science, University of California, Irvine, CA, USA., Délot E; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.; Department of Genomics and Precision Medicine, George Washington University, Washington, DC, USA., Cohen AJ; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA., Pitsava G; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA., Berger S; Children's National Rare Disease Institute, Division of Genetics and Metabolism, Washington, DC, USA.; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.; Department of Genomics and Precision Medicine, George Washington University, Washington, DC, USA., Fusaro VA; Invitae Corporation, San Francisco, CA, USA., Vilain E; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.; Institute for Clinical and Translational Science, University of California, Irvine, CA, USA.; Department of Genomics and Precision Medicine, George Washington University, Washington, DC, USA.

المصدر: BioRxiv : the preprint server for biology [bioRxiv] 2023 Jan 24. Date of Electronic Publication: 2023 Jan 24.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

المؤلفون: Rigsby CM; Department of Biological Sciences, The University of Rhode Island, Kingston, RI., Kinahan IG; Department of Biological Sciences, The University of Rhode Island, Kingston, RI., May A; Department of Biological Sciences, The University of Rhode Island, Kingston, RI., Kostka A; Department of Biological Sciences, The University of Rhode Island, Kingston, RI., Houseman N; Department of Biological Sciences, The University of Rhode Island, Kingston, RI., Savage SK; Department of Biological Sciences, The University of Rhode Island, Kingston, RI., Whitney ER; Department of Biological Sciences, The University of Rhode Island, Kingston, RI., Preisser EL; Department of Biological Sciences, The University of Rhode Island, Kingston, RI.

المصدر: Environmental entomology [Environ Entomol] 2020 Oct 17; Vol. 49 (5), pp. 1226-1231.

نوع المنشور: Journal Article; Research Support, U.S. Gov't, Non-P.H.S.

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 7502320 Publication Model: Print Cited Medium: Internet ISSN: 1938-2936 (Electronic) Linking ISSN: 0046225X NLM ISO Abbreviation: Environ Entomol Subsets: MEDLINE

مواضيع طبية MeSH: Hemiptera* , Hemlock* , Pinaceae*, Animals ; Cyclopentanes ; Oxylipins ; Pinales ; Tsuga

المؤلفون: Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Addissie YA; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Tekendo-Ngongang C; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Jones KL; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia., Savage SK; FDNA Inc., Boston, Massachusetts., Gupta N; Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India., Sirisena ND; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Dissanayake VHW; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Paththinige CS; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Aravena T; Departamento de Medicina, Hospital Clínico de la Universidad de Chile, Santiago, Chile., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Kerala, India., Yesodharan D; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Kerala, India., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Patil SJ; Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospital, Bangalore, India., Jamuar SS; Genetics service, KK Women's and Children's Hospital, Singapore, Singapore.; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore, Singapore.; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore., Goh JC; Division of Nursing - Nursing Specialist Services, KK Women's and Children's Hospital, Singapore, Singapore., Utari A; Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia., Sihombing N; Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia., Mishra R; Division of Human Genetics, Civil Service Hospital, Kathmandu, Nepal., Chitrakar NS; Division of Human Genetics, Civil Service Hospital, Kathmandu, Nepal., Iriele BC; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Lulseged E; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Megarbane A; Institut Jérôme Lejeune, Paris, France., Uwineza A; College of Medicine and Pharmacy, School of Medicine and Pharmacy, Center of Human Genetics, University of Rwanda, Kigali, Rwanda., Oyenusi EE; Department of Pediatrics, Faculty of Clinical Sciences, College of Medicine, University of Lagos, Lagos, Nigeria., Olopade OB; Department of Medicine, Faculty of Clinical Sciences, College of Medicine, University of Lagos, Lagos, Nigeria., Fasanmade OA; Department of Medicine, Faculty of Clinical Sciences, College of Medicine, University of Lagos, Lagos, Nigeria., Duenas-Roque MM; Servicio de Genética, Hospital Nacional Edgardo Rebagliati Martins, EsSalud, Lima, Peru., Thong MK; Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Tung JYL; Department of Paediatrics, Hong Kong Children's Hospital, Hong Kong, China., Mok GTK; Department of Paediatrics, Hong Kong Children's Hospital, Hong Kong, China., Fleischer N; FDNA Inc., Boston, Massachusetts., Rwegerera GM; Department of Internal Medicine, University of Botswana, Gaborone, Botswana., de Herreros MB; National Secretariat for the Rights of People with Disabilities (SENADIS), Fernando de la Mora, Paraguay., Watts J; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Fieggen K; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Huckstadt V; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Moresco A; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Obregon MG; Servicio de Genética, Hospital de Pediatría Garrahan, Buenos Aires, Argentina., Hussen DF; Department of Human Cytogenetics, The National Research Centre, Cairo, Egypt., Ashaat NA; Faculty of Women for Science, Ain Shams University, Cairo, Egypt., Ashaat EA; Clinical Genetics Department, The National Research Centre, Cairo, Egypt., Chung BHY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China., Badoe E; Department of Child Health, University of Ghana Medical School, Accra, Ghana., Faradz SMH; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore., El Ruby MO; Clinical Genetics Department, The National Research Centre, Cairo, Egypt., Shotelersuk V; Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand., Wonkam A; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Ekure EN; Department of Pediatrics, Faculty of Clinical Sciences, College of Medicine, University of Lagos, Lagos, Nigeria., Phadke SR; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India., Richieri-Costa A; Hospital for the Rehabilitation of Craniofacial Anomalies, São Paulo University, Bauru, Brazil., Muenke M; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Feb; Vol. 182 (2), pp. 303-313. Date of Electronic Publication: 2019 Dec 19.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: Abnormalities, Multiple/*epidemiology , Face/*abnormalities , Noonan Syndrome/*epidemiology , Turner Syndrome/*epidemiology, Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Abnormalities, Multiple/physiopathology ; Adolescent ; Adult ; Asian People/genetics ; Child ; Child, Preschool ; Chromosomes, Human, X/genetics ; Face/pathology ; Facial Recognition ; Female ; Hispanic or Latino/genetics ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Noonan Syndrome/diagnosis ; Noonan Syndrome/genetics ; Noonan Syndrome/physiopathology ; Phenotype ; Population Surveillance ; Turner Syndrome/diagnosis ; Turner Syndrome/genetics ; Turner Syndrome/physiopathology ; White People/genetics ; Young Adult

المؤلفون: Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Hu T; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Hong S; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Signer R; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California., Cogné B; Service de génétique médicale, Hôtel-Dieu, Nantes, France., Isidor B; Service de génétique médicale, Hôtel-Dieu, Nantes, France., Mazzola SE; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Giltay JC; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., England EM; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Pais L; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Sanchez-Lara PA; Keck School of Medicine, University of Southern California, Los Angeles, California.; Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, California., Kinning E; West of Scotland Genetics Service, Queen Elizabeth Hospitals, Glasgow, Scotland., Adams DJ; Personalized Genomic Medicine and Pediatric Genetics, Atlantic Health System, Morristown, New Jersey., Treat K; Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana., Torres-Martinez W; Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana., Bedeschi MF; Medical Genetic Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Iascone M; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy., Blaney S; Genetics, Vaccine Preventable Diseases, and Sexual Health, Algoma Public Health, Sault Ste. Marie, Ontario, Canada., Bell O; Keck School of Medicine, University of Southern California, Los Angeles, California., Tan TY; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Melbourne, Victoria, Australia., Delrue MA; Département de pédiatrie, Service de génétique médicale, Centre Hospitalier Universitaire Ste-Justine, Université de Montréal, Montréal, Québec, Canada., Jurgens J; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Barry BJ; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Howard Hughes Medical Institute, Chevy Chase, Maryland., Engle EC; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Howard Hughes Medical Institute, Chevy Chase, Maryland.; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Savage SK; FDNA, Inc., Boston, Massachusetts., Fleischer N; FDNA, Inc., Boston, Massachusetts., Martinez-Agosto JA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California., Boycott K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Zackai EH; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Muenke M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Oct; Vol. 179 (10), pp. 2075-2082. Date of Electronic Publication: 2019 Jul 30.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: DNA-Binding Proteins/*genetics , Nerve Tissue Proteins/*genetics , Transcription Factors/*genetics, Adolescent ; Adult ; Child ; Child, Preschool ; Facies ; Female ; Humans ; Infant ; Male ; Phenotype ; Syndrome

المؤلفون: Mitchell PB; 1 Johns Hopkins University, Baltimore, MD, USA., Ziniel SI; 2 Center for Patient Safety and Quality Research, Boston, MA, USA.; 3 University of Colorado, Aurora, USA.; 4 Children's Hospital Colorado, Aurora, USA., Savage SK; 5 Facial Dysmorphology Analysis, Inc., Boston, MA, USA., Christensen KD; 6 Harvard University, Boston, MA, USA., Weitzman ER; 6 Harvard University, Boston, MA, USA.; 7 Boston Children's Hospital, MA, USA., Green RC; 6 Harvard University, Boston, MA, USA.; 8 Brigham and Women's Hospital, Boston, MA, USA., Huntington NL; 6 Harvard University, Boston, MA, USA.; 7 Boston Children's Hospital, MA, USA., Mathews DJ; 1 Johns Hopkins University, Baltimore, MD, USA., Holm IA; 6 Harvard University, Boston, MA, USA.; 7 Boston Children's Hospital, MA, USA.

المصدر: Journal of empirical research on human research ethics : JERHRE [J Empir Res Hum Res Ethics] 2018 Apr; Vol. 13 (2), pp. 125-138. Date of Electronic Publication: 2018 Feb 23.

نوع المنشور: Journal Article; Randomized Controlled Trial; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Sage Country of Publication: United States NLM ID: 101273949 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1556-2654 (Electronic) Linking ISSN: 15562646 NLM ISO Abbreviation: J Empir Res Hum Res Ethics Subsets: MEDLINE

مواضيع طبية MeSH: Biological Specimen Banks*, Parents/*psychology , Patient Preference/*psychology, Adult ; Biomedical Research ; Child ; Female ; Humans ; Informed Consent/psychology ; Male ; Personal Satisfaction