Literature DB >> 29048418

Recommending inclusion of HFE C282Y homozygotes in the ACMG actionable gene list: cop-out or stealth move toward population screening?

Anne-Marie Laberge1,2.   

Abstract

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Year:  2017        PMID： 29048418     DOI： 10.1038/gim.2017.161

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  15 in total

1.  A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

Authors:  J N Feder; A Gnirke; W Thomas; Z Tsuchihashi; D A Ruddy; A Basava; F Dormishian; R Domingo; M C Ellis; A Fullan; L M Hinton; N L Jones; B E Kimmel; G S Kronmal; P Lauer; V K Lee; D B Loeb; F A Mapa; E McClelland; N C Meyer; G A Mintier; N Moeller; T Moore; E Morikang; C E Prass; L Quintana; S M Starnes; R C Schatzman; K J Brunke; D T Drayna; N J Risch; B R Bacon; R K Wolff
Journal:  Nat Genet       Date:  1996-08       Impact factor: 38.330

2.  Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis.

Authors:  M B Delatycki; K J Allen; A E Nisselle; V Collins; S Metcalfe; D du Sart; J Halliday; M A Aitken; I Macciocca; V Hill; A Wakefield; A Ritchie; A A Gason; A J Nicoll; L W Powell; R Williamson
Journal:  Lancet       Date:  2005 Jul 23-29       Impact factor: 79.321

3.  Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.

Authors:  Ernest Beutler; Vincent J Felitti; James A Koziol; Ngoc J Ho; Terri Gelbart
Journal:  Lancet       Date:  2002-01-19       Impact factor: 79.321

Review 4.  A Systematic Review and Narrative Synthesis of Health Economic Studies Conducted for Hereditary Haemochromatosis.

Authors:  Barbara de Graaff; Amanda Neil; Kristy Sanderson; Lei Si; Kwang Chien Yee; Andrew J Palmer
Journal:  Appl Health Econ Health Policy       Date:  2015-10       Impact factor: 2.561

Review 5.  Screening for iron overload: lessons from the hemochromatosis and iron overload screening (HEIRS) study.

Authors:  Paul Adams; James C Barton; Gordon D McLaren; Ronald T Acton; Mark Speechley; Christine E McLaren; David M Reboussin; Catherine Leiendecker-Foster; Emily L Harris; Beverly M Snively; Thomas Vogt; Phyliss Sholinsky; Elizabeth Thomson; Fitzroy W Dawkins; Victor R Gordeuk; John H Eckfeldt
Journal:  Can J Gastroenterol       Date:  2009-11       Impact factor: 3.522

6.  Screening for hemochromatosis and iron overload: satisfaction with results notification and understanding of mailed results in unaffected participants of the HEIRS study.

Authors:  Helen F Harrison; Barbara W Harrison; Ann P Walker; Kurt Lohman; Shellie D Ellis; Mark A Hall; Jacob Reiss; Paul C Adams; Joan Holup; Ronald T Acton; Thomas Bent; Charles Rivers; Margaret Fadojutimi-Akinsiku
Journal:  Genet Test       Date:  2008-12

7.  Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Authors:  Sarah S Kalia; Kathy Adelman; Sherri J Bale; Wendy K Chung; Christine Eng; James P Evans; Gail E Herman; Sophia B Hufnagel; Teri E Klein; Bruce R Korf; Kent D McKelvey; Kelly E Ormond; C Sue Richards; Christopher N Vlangos; Michael Watson; Christa L Martin; David T Miller
Journal:  Genet Med       Date:  2016-11-17       Impact factor: 8.822

8.  Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network.

Authors:  Stephanie M Fullerton; Wendy A Wolf; Kyle B Brothers; Ellen Wright Clayton; Dana C Crawford; Joshua C Denny; Philip Greenland; Barbara A Koenig; Kathleen A Leppig; Noralane M Lindor; Catherine A McCarty; Amy L McGuire; Eugenia R McPeek Hinz; Daniel B Mirel; Erin M Ramos; Marylyn D Ritchie; Maureen E Smith; Carol J Waudby; Wylie Burke; Gail P Jarvik
Journal:  Genet Med       Date:  2012-02-23       Impact factor: 8.822

Review 9.  Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes.

Authors:  Scott D Grosse; Lyle C Gurrin; Nadine A Bertalli; Katrina J Allen
Journal:  Genet Med       Date:  2017-08-03       Impact factor: 8.822

10.  Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.

Authors:  Carlos J Gallego; Amber Burt; Agnes S Sundaresan; Zi Ye; Christopher Shaw; David R Crosslin; Paul K Crane; S Malia Fullerton; Kris Hansen; David Carrell; Helena Kuivaniemi; Kimberly Derr; Mariza de Andrade; Catherine A McCarty; Terrie E Kitchner; Brittany K Ragon; Sarah C Stallings; Gabriella Papa; Joseph Bochenek; Maureen E Smith; Sharon A Aufox; Jennifer A Pacheco; Vaibhav Patel; Elisha M Friesema; Angelika Ludtke Erwin; Omri Gottesman; Glenn S Gerhard; Marylyn Ritchie; Arno G Motulsky; Iftikhar J Kullo; Eric B Larson; Gerard Tromp; Murray H Brilliant; Erwin Bottinger; Joshua C Denny; Dan M Roden; Marc S Williams; Gail P Jarvik
Journal:  Am J Hum Genet       Date:  2015-09-10       Impact factor: 11.025
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  2 in total

1.  Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG).

Authors:  David T Miller; Kristy Lee; Adam S Gordon; Laura M Amendola; Kathy Adelman; Sherri J Bale; Wendy K Chung; Michael H Gollob; Steven M Harrison; Gail E Herman; Ray E Hershberger; Teri E Klein; Kent McKelvey; C Sue Richards; Christopher N Vlangos; Douglas R Stewart; Michael S Watson; Christa Lese Martin
Journal:  Genet Med       Date:  2021-05-20       Impact factor: 8.822

Review 2.  Twenty-Five Years of Contemplating Genotype-Based Hereditary Hemochromatosis Population Screening.

Authors:  Jörg Schmidtke
Journal:  Genes (Basel)       Date:  2022-09-09       Impact factor: 4.141
  2 in total

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