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Literature DB >> 26681311

Newborn testing and screening by whole-genome sequencing.

Stephen F Kingsmore¹.

Abstract

Entities: Chemical

Mesh：

Year: 2015 PMID： 26681311 DOI： 10.1038/gim.2015.172

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

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17 in total

1. Clinical whole exome sequencing in child neurology practice.

Authors: Siddharth Srivastava; Julie S Cohen; Hilary Vernon; Kristin Barañano; Rebecca McClellan; Leila Jamal; SakkuBai Naidu; Ali Fatemi
Journal: Ann Neurol Date: 2014-08-30 Impact factor: 10.422

2. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

Authors: Sarah E Soden; Carol J Saunders; Laurel K Willig; Emily G Farrow; Laurie D Smith; Josh E Petrikin; Jean-Baptiste LePichon; Neil A Miller; Isabelle Thiffault; Darrell L Dinwiddie; Greyson Twist; Aaron Noll; Bryce A Heese; Lee Zellmer; Andrea M Atherton; Ahmed T Abdelmoity; Nicole Safina; Sarah S Nyp; Britton Zuccarelli; Ingrid A Larson; Ann Modrcin; Suzanne Herd; Mitchell Creed; Zhaohui Ye; Xuan Yuan; Robert A Brodsky; Stephen F Kingsmore
Journal: Sci Transl Med Date: 2014-12-03 Impact factor: 17.956

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. 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. Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.

Authors: Mei W Baker; Anne E Atkins; Suzanne K Cordovado; Miyono Hendrix; Marie C Earley; Philip M Farrell
Journal: Genet Med Date: 2015-02-12 Impact factor: 8.822

6. Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics.

Authors: Benjamin J Kelly; James R Fitch; Yangqiu Hu; Donald J Corsmeier; Huachun Zhong; Amy N Wetzel; Russell D Nordquist; David L Newsom; Peter White
Journal: Genome Biol Date: 2015-01-20 Impact factor: 13.583

7. SpeedSeq: ultra-fast personal genome analysis and interpretation.

Authors: Colby Chiang; Ryan M Layer; Gregory G Faust; Michael R Lindberg; David B Rose; Erik P Garrison; Gabor T Marth; Aaron R Quinlan; Ira M Hall
Journal: Nat Methods Date: 2015-08-10 Impact factor: 28.547

8. A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.

Authors: Neil A Miller; Emily G Farrow; Margaret Gibson; Laurel K Willig; Greyson Twist; Byunggil Yoo; Tyler Marrs; Shane Corder; Lisa Krivohlavek; Adam Walter; Josh E Petrikin; Carol J Saunders; Isabelle Thiffault; Sarah E Soden; Laurie D Smith; Darrell L Dinwiddie; Suzanne Herd; Julie A Cakici; Severine Catreux; Mike Ruehle; Stephen F Kingsmore
Journal: Genome Med Date: 2015-09-30 Impact factor: 11.117

9. The locked genomes: A perspective from Arabia.

Authors: Fahd Al-Mulla
Journal: Appl Transl Genom Date: 2014-09-28

10. Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.

Authors: Dale L Bodian; Elisabeth Klein; Ramaswamy K Iyer; Wendy S W Wong; Prachi Kothiyal; Daniel Stauffer; Kathi C Huddleston; Amber D Gaither; Irina Remsburg; Alina Khromykh; Robin L Baker; George L Maxwell; Joseph G Vockley; John E Niederhuber; Benjamin D Solomon
Journal: Genet Med Date: 2015-09-03 Impact factor: 8.822

15 in total

1. What Genomic Sequencing Can Offer Universal Newborn Screening Programs.

Authors: Cynthia M Powell
Journal: Hastings Cent Rep Date: 2018-07 Impact factor: 2.683

2. Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis.

Authors: Tobias Fleige; Siegfried Burggraf; Ludwig Czibere; Julia Häring; Birgit Glück; Lisa Marie Keitel; Olfert Landt; Erik Harms; Katharina Hohenfellner; Jürgen Durner; Wulf Röschinger; Marc Becker
Journal: Eur J Hum Genet Date: 2019-09-30 Impact factor: 4.246

Review 3. Evolving health care through personal genomics.

Authors: Heidi L Rehm
Journal: Nat Rev Genet Date: 2017-01-31 Impact factor: 53.242

4. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.

Authors: Ozge Ceyhan-Birsoy; Jaclyn B Murry; Kalotina Machini; Matthew S Lebo; Timothy W Yu; Shawn Fayer; Casie A Genetti; Talia S Schwartz; Pankaj B Agrawal; Richard B Parad; Ingrid A Holm; Amy L McGuire; Robert C Green; Heidi L Rehm; Alan H Beggs
Journal: Am J Hum Genet Date: 2019-01-03 Impact factor: 11.025