Literature DB >> 23863830

Incidental swimming with millstones.

Stephen F Kingsmore.   

Abstract

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Year:  2013        PMID: 23863830      PMCID: PMC4286877          DOI: 10.1126/scitranslmed.3006900

Source DB:  PubMed          Journal:  Sci Transl Med        ISSN: 1946-6234            Impact factor:   17.956


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  7 in total

1.  AMP v. Myriad: a surgical strike on Blockbuster business models.

Authors:  Richard E Gold; Robert Cook-Deegan; Tania Bubela
Journal:  Sci Transl Med       Date:  2013-07-03       Impact factor: 17.956

2.  Exome sequencing can improve diagnosis and alter patient management.

Authors:  Stacey B Gabriel; Joseph G Gleeson; Tracy J Dixon-Salazar; Jennifer L Silhavy; Nitin Udpa; Jana Schroth; Stephanie Bielas; Ashleigh E Schaffer; Jesus Olvera; Vineet Bafna; Maha S Zaki; Ghada H Abdel-Salam; Lobna A Mansour; Laila Selim; Sawsan Abdel-Hadi; Naima Marzouki; Tawfeg Ben-Omran; Nouriya A Al-Saana; F Müjgan Sonmez; Figen Celep; Matloob Azam; Kiley J Hill; Adrienne Collazo; Ali G Fenstermaker; Gaia Novarino; Naiara Akizu; Kiran V Garimella; Carrie Sougnez; Carsten Russ
Journal:  Sci Transl Med       Date:  2012-06-13       Impact factor: 17.956

3.  Diagnostic exome sequencing in persons with severe intellectual disability.

Authors:  Joep de Ligt; Marjolein H Willemsen; Bregje W M van Bon; Tjitske Kleefstra; Helger G Yntema; Thessa Kroes; Anneke T Vulto-van Silfhout; David A Koolen; Petra de Vries; Christian Gilissen; Marisol del Rosario; Alexander Hoischen; Hans Scheffer; Bert B A de Vries; Han G Brunner; Joris A Veltman; Lisenka E L M Vissers
Journal:  N Engl J Med       Date:  2012-10-03       Impact factor: 91.245

4.  Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.

Authors:  Carol Jean Saunders; Neil Andrew Miller; Sarah Elizabeth Soden; Darrell Lee Dinwiddie; Aaron Noll; Noor Abu Alnadi; Nevene Andraws; Melanie LeAnn Patterson; Lisa Ann Krivohlavek; Joel Fellis; Sean Humphray; Peter Saffrey; Zoya Kingsbury; Jacqueline Claire Weir; Jason Betley; Russell James Grocock; Elliott Harrison Margulies; Emily Gwendolyn Farrow; Michael Artman; Nicole Pauline Safina; Joshua Erin Petrikin; Kevin Peter Hall; Stephen Francis Kingsmore
Journal:  Sci Transl Med       Date:  2012-10-03       Impact factor: 17.956

5.  ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Authors:  C Sue Richards; Sherri Bale; Daniel B Bellissimo; Soma Das; Wayne W Grody; Madhuri R Hegde; Elaine Lyon; Brian E Ward
Journal:  Genet Med       Date:  2008-04       Impact factor: 8.822

6.  Newborn screening: toward a uniform screening panel and system.

Authors: 
Journal:  Genet Med       Date:  2006-05       Impact factor: 8.822

7.  ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Authors:  Robert C Green; Jonathan S Berg; Wayne W Grody; Sarah S Kalia; Bruce R Korf; Christa L Martin; Amy L McGuire; Robert L Nussbaum; Julianne M O'Daniel; Kelly E Ormond; Heidi L Rehm; Michael S Watson; Marc S Williams; Leslie G Biesecker
Journal:  Genet Med       Date:  2013-06-20       Impact factor: 8.822

  7 in total
  5 in total

1.  Clinical Research Informatics for Big Data and Precision Medicine.

Authors:  C Weng; M G Kahn
Journal:  Yearb Med Inform       Date:  2016-11-10

2.  Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU.

Authors:  Erica F Sanford; Michelle M Clark; Lauge Farnaes; Matthew R Williams; James C Perry; Elizabeth G Ingulli; Nathaly M Sweeney; Ami Doshi; Jeffrey J Gold; Benjamin Briggs; Matthew N Bainbridge; Michele Feddock; Kelly Watkins; Shimul Chowdhury; Shareef A Nahas; David P Dimmock; Stephen F Kingsmore; Nicole G Coufal
Journal:  Pediatr Crit Care Med       Date:  2019-11       Impact factor: 3.624

3.  Grappling with genomic incidental findings in the clinical realm.

Authors:  Sara Chandros Hull; Benjamin E Berkman
Journal:  Chest       Date:  2014-02       Impact factor: 9.410

4.  Utility of next generation sequencing in clinical primary immunodeficiencies.

Authors:  Nikita Raje; Sarah Soden; Douglas Swanson; Christina E Ciaccio; Stephen F Kingsmore; Darrell L Dinwiddie
Journal:  Curr Allergy Asthma Rep       Date:  2014-10       Impact factor: 4.919

5.  Disease variants in genomes of 44 centenarians.

Authors:  Yun Freudenberg-Hua; Jan Freudenberg; Vladimir Vacic; Avinash Abhyankar; Anne-Katrin Emde; Danny Ben-Avraham; Nir Barzilai; Dayna Oschwald; Erika Christen; Jeremy Koppel; Blaine Greenwald; Robert B Darnell; Soren Germer; Gil Atzmon; Peter Davies
Journal:  Mol Genet Genomic Med       Date:  2014-06-15       Impact factor: 2.183

  5 in total

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