Literature DB >> 26765341

Parental DNA sequence is critical family history in clinical genomics.

Michael F Murray1.   

Abstract

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Year:  2016        PMID: 26765341     DOI: 10.1038/gim.2015.177

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


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  8 in total

1.  The family history--more important than ever.

Authors:  Alan E Guttmacher; Francis S Collins; Richard H Carmona
Journal:  N Engl J Med       Date:  2004-11-25       Impact factor: 91.245

2.  Carrier detection in Duchenne muscular dystrophy. Evidence from a study of obligatory carriers and mothers of isolated cases.

Authors:  J R Sibert; P S Harper; R J Thompson; R G Newcombe
Journal:  Arch Dis Child       Date:  1979-07       Impact factor: 3.791

3.  Molecular findings among patients referred for clinical whole-exome sequencing.

Authors:  Yaping Yang; Donna M Muzny; Fan Xia; Zhiyv Niu; Richard Person; Yan Ding; Patricia Ward; Alicia Braxton; Min Wang; Christian Buhay; Narayanan Veeraraghavan; Alicia Hawes; Theodore Chiang; Magalie Leduc; Joke Beuten; Jing Zhang; Weimin He; Jennifer Scull; Alecia Willis; Megan Landsverk; William J Craigen; Mir Reza Bekheirnia; Asbjorg Stray-Pedersen; Pengfei Liu; Shu Wen; Wendy Alcaraz; Hong Cui; Magdalena Walkiewicz; Jeffrey Reid; Matthew Bainbridge; Ankita Patel; Eric Boerwinkle; Arthur L Beaudet; James R Lupski; Sharon E Plon; Richard A Gibbs; Christine M Eng
Journal:  JAMA       Date:  2014-11-12       Impact factor: 56.272

4.  Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Authors:  Hane Lee; Joshua L Deignan; Naghmeh Dorrani; Samuel P Strom; Sibel Kantarci; Fabiola Quintero-Rivera; Kingshuk Das; Traci Toy; Bret Harry; Michael Yourshaw; Michelle Fox; Brent L Fogel; Julian A Martinez-Agosto; Derek A Wong; Vivian Y Chang; Perry B Shieh; Christina G S Palmer; Katrina M Dipple; Wayne W Grody; Eric Vilain; Stanley F Nelson
Journal:  JAMA       Date:  2014-11-12       Impact factor: 56.272

Review 5.  Family history: the three-generation pedigree.

Authors:  Daniel J Wattendorf; Donald W Hadley
Journal:  Am Fam Physician       Date:  2005-08-01       Impact factor: 3.292

6.  Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Authors:  Yaping Yang; Donna M Muzny; Jeffrey G Reid; Matthew N Bainbridge; Alecia Willis; Patricia A Ward; Alicia Braxton; Joke Beuten; Fan Xia; Zhiyv Niu; Matthew Hardison; Richard Person; Mir Reza Bekheirnia; Magalie S Leduc; Amelia Kirby; Peter Pham; Jennifer Scull; Min Wang; Yan Ding; Sharon E Plon; James R Lupski; Arthur L Beaudet; Richard A Gibbs; Christine M Eng
Journal:  N Engl J Med       Date:  2013-10-02       Impact factor: 91.245

7.  Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

Authors:  Kelly D Farwell; Layla Shahmirzadi; Dima El-Khechen; Zöe Powis; Elizabeth C Chao; Brigette Tippin Davis; Ruth M Baxter; Wenqi Zeng; Cameron Mroske; Melissa C Parra; Stephanie K Gandomi; Ira Lu; Xiang Li; Hong Lu; Hsiao-Mei Lu; David Salvador; David Ruble; Monica Lao; Soren Fischbach; Jennifer Wen; Shela Lee; Aaron Elliott; Charles L M Dunlop; Sha Tang
Journal:  Genet Med       Date:  2014-11-13       Impact factor: 8.822

8.  Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General's My Family Health Portrait.

Authors:  W Gregory Feero; Flavia M Facio; Emily A Glogowski; Heather L Hampel; Jill E Stopfer; Haley Eidem; Amy M Pizzino; David K Barton; Leslie G Biesecker
Journal:  Genet Med       Date:  2014-12-18       Impact factor: 8.822

  8 in total

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