Literature DB >> 31019278

The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG).

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Abstract

Entities:  

Keywords:  ACMG 56; ACMG SF v2.0; population screening; secondary findings

Mesh:

Year:  2019        PMID: 31019278     DOI: 10.1038/s41436-019-0502-5

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


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  11 in total

1.  The Need to Improve the Clinical Utility of Direct-to-Consumer Genetic Tests: Either Too Narrow or Too Broad.

Authors:  Madison K Kilbride; Angela R Bradbury
Journal:  JAMA       Date:  2020-04-21       Impact factor: 56.272

2.  Machine learning-based reclassification of germline variants of unknown significance: The RENOVO algorithm.

Authors:  Valentina Favalli; Giulia Tini; Emanuele Bonetti; Gianluca Vozza; Alessandro Guida; Sara Gandini; Pier Giuseppe Pelicci; Luca Mazzarella
Journal:  Am J Hum Genet       Date:  2021-03-23       Impact factor: 11.025

3.  Commentary on ICH guideline on genomic sampling and data management-enabling opportunities in drug development and patient treatment.

Authors:  Falk Ehmann; Jeroen Aerssens; Rebecca Blanchard
Journal:  Br J Clin Pharmacol       Date:  2020-05-18       Impact factor: 4.335

4.  The passivists: Managing risk through institutionalized ignorance in genomic medicine.

Authors:  Kellie Owens
Journal:  Soc Sci Med       Date:  2022-01-10       Impact factor: 4.634

5.  Prevalence of clinically actionable disease variants in exceptionally long-lived families.

Authors:  Paige Carlson; Mary K Wojczynski; Todd Druley; Joseph H Lee; Joseph M Zmuda; Bharat Thyagarajan
Journal:  BMC Med Genomics       Date:  2020-04-10       Impact factor: 3.063

6.  Implementing genomic screening in diverse populations.

Authors:  Noura S Abul-Husn; Emily R Soper; Giovanna T Braganza; Jessica E Rodriguez; Natasha Zeid; Sinead Cullina; Dean Bobo; Arden Moscati; Amanda Merkelson; Ruth J F Loos; Judy H Cho; Gillian M Belbin; Sabrina A Suckiel; Eimear E Kenny
Journal:  Genome Med       Date:  2021-02-05       Impact factor: 11.117

Review 7.  Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls.

Authors:  Aideen M McInerney-Leo; Emma L Duncan
Journal:  Front Endocrinol (Lausanne)       Date:  2021-02-19       Impact factor: 5.555

8.  Precision Population Medicine in Primary Care: The Sanford Chip Experience.

Authors:  Kurt D Christensen; Megan Bell; Carrie L B Zawatsky; Lauren N Galbraith; Robert C Green; Allison M Hutchinson; Leila Jamal; Jessica L LeBlanc; Jennifer R Leonhard; Michelle Moore; Lisa Mullineaux; Natasha Petry; Dylan M Platt; Sherin Shaaban; April Schultz; Bethany D Tucker; Joel Van Heukelom; Elizabeth Wheeler; Emilie S Zoltick; Catherine Hajek
Journal:  Front Genet       Date:  2021-03-12       Impact factor: 4.599

9.  Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.

Authors:  Julia K Goodrich; Moriel Singer-Berk; Rachel Son; Abigail Sveden; Jordan Wood; Eleina England; Joanne B Cole; Ben Weisburd; Nick Watts; Lizz Caulkins; Peter Dornbos; Ryan Koesterer; Zachary Zappala; Haichen Zhang; Kristin A Maloney; Andy Dahl; Carlos A Aguilar-Salinas; Gil Atzmon; Francisco Barajas-Olmos; Nir Barzilai; John Blangero; Eric Boerwinkle; Lori L Bonnycastle; Erwin Bottinger; Donald W Bowden; Federico Centeno-Cruz; John C Chambers; Nathalie Chami; Edmund Chan; Juliana Chan; Ching-Yu Cheng; Yoon Shin Cho; Cecilia Contreras-Cubas; Emilio Córdova; Adolfo Correa; Ralph A DeFronzo; Ravindranath Duggirala; Josée Dupuis; Ma Eugenia Garay-Sevilla; Humberto García-Ortiz; Christian Gieger; Benjamin Glaser; Clicerio González-Villalpando; Ma Elena Gonzalez; Niels Grarup; Leif Groop; Myron Gross; Christopher Haiman; Sohee Han; Craig L Hanis; Torben Hansen; Nancy L Heard-Costa; Brian E Henderson; Juan Manuel Malacara Hernandez; Mi Yeong Hwang; Sergio Islas-Andrade; Marit E Jørgensen; Hyun Min Kang; Bong-Jo Kim; Young Jin Kim; Heikki A Koistinen; Jaspal Singh Kooner; Johanna Kuusisto; Soo-Heon Kwak; Markku Laakso; Leslie Lange; Jong-Young Lee; Juyoung Lee; Donna M Lehman; Allan Linneberg; Jianjun Liu; Ruth J F Loos; Valeriya Lyssenko; Ronald C W Ma; Angélica Martínez-Hernández; James B Meigs; Thomas Meitinger; Elvia Mendoza-Caamal; Karen L Mohlke; Andrew D Morris; Alanna C Morrison; Maggie C Y Ng; Peter M Nilsson; Christopher J O'Donnell; Lorena Orozco; Colin N A Palmer; Kyong Soo Park; Wendy S Post; Oluf Pedersen; Michael Preuss; Bruce M Psaty; Alexander P Reiner; Cristina Revilla-Monsalve; Stephen S Rich; Jerome I Rotter; Danish Saleheen; Claudia Schurmann; Xueling Sim; Rob Sladek; Kerrin S Small; Wing Yee So; Timothy D Spector; Konstantin Strauch; Tim M Strom; E Shyong Tai; Claudia H T Tam; Yik Ying Teo; Farook Thameem; Brian Tomlinson; Russell P Tracy; Tiinamaija Tuomi; Jaakko Tuomilehto; Teresa Tusié-Luna; Rob M van Dam; Ramachandran S Vasan; James G Wilson; Daniel R Witte; Tien-Yin Wong; Noël P Burtt; Noah Zaitlen; Mark I McCarthy; Michael Boehnke; Toni I Pollin; Jason Flannick; Josep M Mercader; Anne O'Donnell-Luria; Samantha Baxter; Jose C Florez; Daniel G MacArthur; Miriam S Udler
Journal:  Nat Commun       Date:  2021-06-09       Impact factor: 17.694

10.  Frequency of ClinVar Pathogenic Variants in Chronic Kidney Disease Patients Surveyed for Return of Research Results at a Cleveland Public Hospital.

Authors:  Dana C Crawford; John Lin; Jessica N Cooke Bailey; Tyler Kinzy; John R Sedor; John F O'Toole; William S Bush
Journal:  Pac Symp Biocomput       Date:  2020
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