Retrospective Cohort Study on the Limitations of Direct-to-Consumer Genetic Screening in Hereditary Breast and Ovarian Cancer.

Autor: Desai NV; Levine Cancer Institute, Atrium Health, Charlotte, NC., Barrows ED; Division of Hematology-Oncology, MedStar Georgetown University Hospital, Washington, DC.; Georgetown University Medical Center, Lombardi Comprehensive Cancer Center, Washington, DC., Nielsen SM; Invitae Corp, San Francisco, CA., Hatchell KE; Invitae Corp, San Francisco, CA., Anderson MJ; Invitae Corp, San Francisco, CA., Haverfield EV; Invitae Corp, San Francisco, CA., Herrera B; Invitae Corp, San Francisco, CA., Esplin ED; Invitae Corp, San Francisco, CA., Lucassen A; Department of Clinical Ethics and Law at Southampton, University of Southampton, Southampton, United Kingdom.; Welcome Centre for Human Genetics, University of Oxford, Oxford, United Kingdom., Tung NM; Division of Hematology-Oncology, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA.; Harvard Medical School, Boston, MA., Isaacs C; Division of Hematology-Oncology, MedStar Georgetown University Hospital, Washington, DC.; Georgetown University Medical Center, Lombardi Comprehensive Cancer Center, Washington, DC.

Publikováno v: JCO precision oncology [JCO Precis Oncol] 2023 Aug; Vol. 7, pp. e2200695.

Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Autor: Haverfield EV; Invitae, 1400 16th Street, San Francisco, CA, 94103, USA. eden.haverfield@invitae.com., Esplin ED; Invitae, 1400 16th Street, San Francisco, CA, 94103, USA., Aguilar SJ; Invitae, 1400 16th Street, San Francisco, CA, 94103, USA., Hatchell KE; Invitae, 1400 16th Street, San Francisco, CA, 94103, USA., Ormond KE; Stanford University School of Medicine, Stanford, CA, USA., Hanson-Kahn A; Stanford University School of Medicine, Stanford, CA, USA., Atwal PS; Mayo Clinic, Jacksonville, FL, USA.; Atwal Clinic, Palm Beach, FL, USA.; PWNHealth, New York, NY, USA., Macklin-Mantia S; Mayo Clinic, Jacksonville, FL, USA., Hines S; Mayo Clinic, Jacksonville, FL, USA., Sak CW; Tucker Medical, Singapore, Singapore., Tucker S; Tucker Medical, Singapore, Singapore., Bleyl SB; Genome Medical, San Francisco, CA, USA., Hulick PJ; NorthShore University Health System, Chicago, IL, USA., Gordon OK; Providence Research Network, St John Cancer Institute, Los Angeles, CA, USA.; University of California, Los Angeles, CA, USA., Velsher L; Medcan, Toronto, Ontario, Canada., Gu JYJ; Medcan, Toronto, Ontario, Canada., Weissman SM; Genome Medical, San Francisco, CA, USA.; Chicago Genetic Consultants, Northbrook, IL, USA., Kruisselbrink T; Mayo Clinic, Rochester, MN, USA., Abel C; Cooper Clinic, Dallas, TX, USA., Kettles M; Cooper Clinic, Dallas, TX, USA., Slavotinek A; University of California San Francisco, San Francisco, CA, USA., Mendelsohn BA; Kaiser Permanente, Oakland, CA, USA., Green RC; Brigham and Women's Hospital, Boston, MA, USA.; The Broad Institute, Boston, MA, USA.; Ariadne Labs, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Aradhya S; Invitae, 1400 16th Street, San Francisco, CA, 94103, USA., Nussbaum RL; Invitae, 1400 16th Street, San Francisco, CA, 94103, USA.; Volunteer Faculty, University of California San Francisco, San Francisco, CA, USA.

Publikováno v: BMC medicine [BMC Med] 2021 Nov 03; Vol. 19 (1), pp. 288. Date of Electronic Publication: 2021 Nov 03.

Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.

Autor: Sturm AC; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania., Truty R; Invitae, San Francisco, California., Callis TE; Invitae, San Francisco, California., Aguilar S; Invitae, San Francisco, California., Esplin ED; Invitae, San Francisco, California., Garcia S; Invitae, San Francisco, California., Haverfield EV; Invitae, San Francisco, California., Morales A; Invitae, San Francisco, California., Nussbaum RL; Invitae, San Francisco, California., Rojahn S; Invitae, San Francisco, California., Vatta M; Invitae, San Francisco, California., Rader DJ; Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia.; Cardiovascular Institute, Perelman School of Medicine at the University of Pennsylvania, Philadelphia.

Publikováno v: JAMA cardiology [JAMA Cardiol] 2021 Aug 01; Vol. 6 (8), pp. 902-909.

SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.

Autor: Liu J; Division of Human and Molecular Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104-4318, USA., Feldman R, Zhang Z, Deardorff MA, Haverfield EV, Kaur M, Li JR, Clark D, Kline AD, Waggoner DJ, Das S, Jackson LG, Krantz ID

Publikováno v: Human mutation [Hum Mutat] 2009 Nov; Vol. 30 (11), pp. 1535-42.

Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.

Autor: Haverfield EV; Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA., Whited AJ, Petras KS, Dobyns WB, Das S

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2009 Jul; Vol. 17 (7), pp. 911-8. Date of Electronic Publication: 2008 Dec 03.