Literature DB >> 28340351

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.

Teri A Manolio1, Douglas M Fowler2, Lea M Starita2, Melissa A Haendel3, Daniel G MacArthur4, Leslie G Biesecker5, Elizabeth Worthey6, Rex L Chisholm7, Eric D Green5, Howard J Jacob6, Howard L McLeod8, Dan Roden9, Laura Lyman Rodriguez5, Marc S Williams10, Gregory M Cooper6, Nancy J Cox11, Gail E Herman12, Stephen Kingsmore13, Cecilia Lo14, Cathleen Lutz15, Calum A MacRae16, Robert L Nussbaum17, Jose M Ordovas18, Erin M Ramos5, Peter N Robinson19, Wendy S Rubinstein20, Christine Seidman21, Barbara E Stranger22, Haoyi Wang23, Monte Westerfield24, Carol Bult23.   

Abstract

Genome sequencing has revolutionized the diagnosis of genetic diseases. Close collaborations between basic scientists and clinical genomicists are now needed to link genetic variants with disease causation. To facilitate such collaborations, we recommend prioritizing clinically relevant genes for functional studies, developing reference variant-phenotype databases, adopting phenotype description standards, and promoting data sharing. Published by Elsevier Inc.

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Year:  2017        PMID： 28340351      PMCID： PMC5511379          DOI： 10.1016/j.cell.2017.03.005

Source DB:  PubMed          Journal:  Cell        ISSN： 0092-8674            Impact factor:   41.582


  15 in total

1.  CRISPR, the disruptor.

Authors:  Heidi Ledford
Journal:  Nature       Date:  2015-06-04       Impact factor: 49.962

2.  Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.

Authors:  Lea M Starita; David L Young; Muhtadi Islam; Jacob O Kitzman; Justin Gullingsrud; Ronald J Hause; Douglas M Fowler; Jeffrey D Parvin; Jay Shendure; Stanley Fields
Journal:  Genetics       Date:  2015-03-30       Impact factor: 4.562

Review 3.  Controlling complexity: the clinical relevance of mouse complex genetics.

Authors:  Klaus Schughart; Claude Libert; Martien J Kas
Journal:  Eur J Hum Genet       Date:  2013-05-01       Impact factor: 4.246

4.  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

5.  The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.

Authors:  William A Gahl; John J Mulvihill; Camilo Toro; Thomas C Markello; Anastasia L Wise; Rachel B Ramoni; David R Adams; Cynthia J Tifft
Journal:  Mol Genet Metab       Date:  2016-01-22       Impact factor: 4.797

6.  Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data.

Authors:  Joshua C Denny; Lisa Bastarache; Marylyn D Ritchie; Robert J Carroll; Raquel Zink; Jonathan D Mosley; Julie R Field; Jill M Pulley; Andrea H Ramirez; Erica Bowton; Melissa A Basford; David S Carrell; Peggy L Peissig; Abel N Kho; Jennifer A Pacheco; Luke V Rasmussen; David R Crosslin; Paul K Crane; Jyotishman Pathak; Suzette J Bielinski; Sarah A Pendergrass; Hua Xu; Lucia A Hindorff; Rongling Li; Teri A Manolio; Christopher G Chute; Rex L Chisholm; Eric B Larson; Gail P Jarvik; Murray H Brilliant; Catherine A McCarty; Iftikhar J Kullo; Jonathan L Haines; Dana C Crawford; Daniel R Masys; Dan M Roden
Journal:  Nat Biotechnol       Date:  2013-12       Impact factor: 54.908

7.  Parlez-vous VUS?

Authors:  Gregory M Cooper
Journal:  Genome Res       Date:  2015-10       Impact factor: 9.043

8.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

9.  ClinVar: public archive of interpretations of clinically relevant variants.

Authors:  Melissa J Landrum; Jennifer M Lee; Mark Benson; Garth Brown; Chen Chao; Shanmuga Chitipiralla; Baoshan Gu; Jennifer Hart; Douglas Hoffman; Jeffrey Hoover; Wonhee Jang; Kenneth Katz; Michael Ovetsky; George Riley; Amanjeev Sethi; Ray Tully; Ricardo Villamarin-Salomon; Wendy Rubinstein; Donna R Maglott
Journal:  Nucleic Acids Res       Date:  2015-11-17       Impact factor: 16.971

10.  A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.

Authors:  Jessica Ezzell Hunter; Stephanie A Irving; Leslie G Biesecker; Adam Buchanan; Brian Jensen; Kristy Lee; Christa Lese Martin; Laura Milko; Kristin Muessig; Annie D Niehaus; Julianne O'Daniel; Margaret A Piper; Erin M Ramos; Sheri D Schully; Alan F Scott; Anne Slavotinek; Nara Sobreira; Natasha Strande; Meredith Weaver; Elizabeth M Webber; Marc S Williams; Jonathan S Berg; James P Evans; Katrina A B Goddard
Journal:  Genet Med       Date:  2016-04-28       Impact factor: 8.822
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  54 in total

1.  High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance.

Authors:  Carlos G Vanoye; Reshma R Desai; Katarina L Fabre; Shannon L Gallagher; Franck Potet; Jean-Marc DeKeyser; Daniela Macaya; Jens Meiler; Charles R Sanders; Alfred L George
Journal:  Circ Genom Precis Med       Date:  2018-11

2.  Detecting the Presence of an Individual in Phenotypic Summary Data.

Authors:  Yongtai Liu; Zhiyu Wan; Weiyi Xia; Murat Kantarcioglu; Yevgeniy Vorobeychik; Ellen Wright Clayton; Abel Kho; David Carrell; Bradley A Malin
Journal:  AMIA Annu Symp Proc       Date:  2018-12-05

Review 3.  Variations of type IV collagen-encoding genes in patients with histological diagnosis of focal segmental glomerulosclerosis.

Authors:  Erol Demir; Yasar Caliskan
Journal:  Pediatr Nephrol       Date:  2019-06-28       Impact factor: 3.714

Review 4.  Model organism data evolving in support of translational medicine.

Authors:  Douglas G Howe; Judith A Blake; Yvonne M Bradford; Carol J Bult; Brian R Calvi; Stacia R Engel; James A Kadin; Thomas C Kaufman; Ranjana Kishore; Stanley J F Laulederkind; Suzanna E Lewis; Sierra A T Moxon; Joel E Richardson; Cynthia Smith
Journal:  Lab Anim (NY)       Date:  2018-09-17       Impact factor: 12.625

Review 5.  Biophysical and Mechanistic Models for Disease-Causing Protein Variants.

Authors:  Amelie Stein; Douglas M Fowler; Rasmus Hartmann-Petersen; Kresten Lindorff-Larsen
Journal:  Trends Biochem Sci       Date:  2019-01-31       Impact factor: 13.807

6.  Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms.

Authors:  Christine M Clarke; Vincent T Fok; Jennifer A Gustafson; Matthew D Smyth; Andrew E Timms; Chris D Frazar; Joshua D Smith; Craig B Birgfeld; Amy Lee; Richard G Ellenbogen; Joseph S Gruss; Richard A Hopper; Michael L Cunningham
Journal:  Am J Med Genet A       Date:  2017-11-23       Impact factor: 2.802

7.  Variant Interpretation: Functional Assays to the Rescue.

Authors:  Lea M Starita; Nadav Ahituv; Maitreya J Dunham; Jacob O Kitzman; Frederick P Roth; Georg Seelig; Jay Shendure; Douglas M Fowler
Journal:  Am J Hum Genet       Date:  2017-09-07       Impact factor: 11.025

Review 8.  Genomic medicine for kidney disease.

Authors:  Emily E Groopman; Hila Milo Rasouly; Ali G Gharavi
Journal:  Nat Rev Nephrol       Date:  2018-01-08       Impact factor: 28.314

9.  Utility of chromosomal microarray in anomalous fetuses.

Authors:  Jacqueline G Parchem; Teresa N Sparks; Kristen Gosnell; Mary E Norton
Journal:  Prenat Diagn       Date:  2018-01       Impact factor: 3.050

10.  Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project.

Authors:  Stacey Pereira; Jill Oliver Robinson; Amanda M Gutierrez; Devan K Petersen; Rebecca L Hsu; Caroline H Lee; Talia S Schwartz; Ingrid A Holm; Alan H Beggs; Robert C Green; Amy L McGuire
Journal:  Pediatrics       Date:  2019-01       Impact factor: 7.124
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