Literature DB >> 31056084

Exome Sequencing and Molecular Diagnosis.

William D Graf1.   

Abstract

Mesh：

Year:  2019        PMID： 31056084      PMCID： PMC6514380          DOI： 10.3238/arztebl.2019.0195

Source DB:  PubMed          Journal:  Dtsch Arztebl Int        ISSN： 1866-0452            Impact factor:   5.594


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  10 in total

1.  Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study).

Authors:  Aline Chassagne; Aurore Pélissier; Françoise Houdayer; Elodie Cretin; Elodie Gautier; Dominique Salvi; Sarah Kidri; Aurélie Godard; Christel Thauvin-Robinet; Alice Masurel; Daphné Lehalle; Nolwenn Jean-Marçais; Julien Thevenon; Gaetan Lesca; Audrey Putoux; Marie-Pierre Cordier; Sophie Dupuis-Girod; Marianne Till; Yannis Duffourd; Jean-Baptiste Rivière; Lorraine Joly; Christine Juif; Olivier Putois; Pierre Ancet; Anne-Sophie Lapointe; Paulette Morin; Patrick Edery; Massimiliano Rossi; Damien Sanlaville; Sophie Béjean; Christine Peyron; Laurence Faivre
Journal:  Eur J Hum Genet       Date:  2019-02-01       Impact factor: 4.246

2.  Genome sequencing identifies major causes of severe intellectual disability.

Authors:  Christian Gilissen; Jayne Y Hehir-Kwa; Djie Tjwan Thung; Maartje van de Vorst; Bregje W M van Bon; Marjolein H Willemsen; Michael Kwint; Irene M Janssen; Alexander Hoischen; Annette Schenck; Richard Leach; Robert Klein; Rick Tearle; Tan Bo; Rolph Pfundt; Helger G Yntema; Bert B A de Vries; Tjitske Kleefstra; Han G Brunner; Lisenka E L M Vissers; Joris A Veltman
Journal:  Nature       Date:  2014-06-04       Impact factor: 49.962

3.  Guidelines for diagnostic next-generation sequencing.

Authors:  Gert Matthijs; Erika Souche; Mariëlle Alders; Anniek Corveleyn; Sebastian Eck; Ilse Feenstra; Valérie Race; Erik Sistermans; Marc Sturm; Marjan Weiss; Helger Yntema; Egbert Bakker; Hans Scheffer; Peter Bauer
Journal:  Eur J Hum Genet       Date:  2016-10       Impact factor: 4.246

Review 4.  Genome sequencing in the clinic: the past, present, and future of genomic medicine.

Authors:  Jeremy W Prokop; Thomas May; Kim Strong; Stephanie M Bilinovich; Caleb Bupp; Surender Rajasekaran; Elizabeth A Worthey; Jozef Lazar
Journal:  Physiol Genomics       Date:  2018-05-04       Impact factor: 3.107

5.  Exome Sequencing in Children.

Authors:  Elisa A Mahler; Jessika Johannsen; Konstantinos Tsiakas; Katja Kloth; Sabine Lüttgen; Chris Mühlhausen; Bader Alhaddad; Tobias B Haack; Tim M Strom; Fanny Kortüm; Thomas Meitinger; Ania C Muntau; René Santer; Christian Kubisch; Davor Lessel; Jonas Denecke; Maja Hempel
Journal:  Dtsch Arztebl Int       Date:  2019-03-22       Impact factor: 5.594

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.  Known unknowns: building an ethics of uncertainty into genomic medicine.

Authors:  Ainsley J Newson; Samantha J Leonard; Alison Hall; Clara L Gaff
Journal:  BMC Med Genomics       Date:  2016-09-01       Impact factor: 3.063

8.  A taxonomy of medical uncertainties in clinical genome sequencing.

Authors:  Paul K J Han; Kendall L Umstead; Barbara A Bernhardt; Robert C Green; Steven Joffe; Barbara Koenig; Ian Krantz; Leo B Waterston; Leslie G Biesecker; Barbara B Biesecker
Journal:  Genet Med       Date:  2017-01-19       Impact factor: 8.822

9.  An anatomically comprehensive atlas of the adult human brain transcriptome.

Authors:  Michael J Hawrylycz; Ed S Lein; Angela L Guillozet-Bongaarts; Elaine H Shen; Lydia Ng; Jeremy A Miller; Louie N van de Lagemaat; Kimberly A Smith; Amanda Ebbert; Zackery L Riley; Chris Abajian; Christian F Beckmann; Amy Bernard; Darren Bertagnolli; Andrew F Boe; Preston M Cartagena; M Mallar Chakravarty; Mike Chapin; Jimmy Chong; Rachel A Dalley; Barry David Daly; Chinh Dang; Suvro Datta; Nick Dee; Tim A Dolbeare; Vance Faber; David Feng; David R Fowler; Jeff Goldy; Benjamin W Gregor; Zeb Haradon; David R Haynor; John G Hohmann; Steve Horvath; Robert E Howard; Andreas Jeromin; Jayson M Jochim; Marty Kinnunen; Christopher Lau; Evan T Lazarz; Changkyu Lee; Tracy A Lemon; Ling Li; Yang Li; John A Morris; Caroline C Overly; Patrick D Parker; Sheana E Parry; Melissa Reding; Joshua J Royall; Jay Schulkin; Pedro Adolfo Sequeira; Clifford R Slaughterbeck; Simon C Smith; Andy J Sodt; Susan M Sunkin; Beryl E Swanson; Marquis P Vawter; Derric Williams; Paul Wohnoutka; H Ronald Zielke; Daniel H Geschwind; Patrick R Hof; Stephen M Smith; Christof Koch; Seth G N Grant; Allan R Jones
Journal:  Nature       Date:  2012-09-20       Impact factor: 49.962

10.  Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.

Authors:  David L Veenstra; Jonathan S Berg; Robert C Green; Leslie G Biesecker; Lucia A Hindorff; M Ragan Hart; Barbara B Biesecker; Carrie L Blout; Kurt D Christensen; Laura M Amendola; Katie L Bergstrom; Sawona Biswas; Kevin M Bowling; Kyle B Brothers; Laura K Conlin; Greg M Cooper; Matthew C Dulik; Kelly M East; Jessica N Everett; Candice R Finnila; Arezou A Ghazani; Marian J Gilmore; Katrina A B Goddard; Gail P Jarvik; Jennifer J Johnston; Tia L Kauffman; Whitley V Kelley; Joel B Krier; Katie L Lewis; Amy L McGuire; Carmit McMullen; Jeffrey Ou; Sharon E Plon; Heidi L Rehm; C Sue Richards; Edward J Romasko; Ane Miren Sagardia; Nancy B Spinner; Michelle L Thompson; Erin Turbitt; Jason L Vassy; Benjamin S Wilfond
Journal:  Genet Med       Date:  2018-10-05       Impact factor: 8.822
  10 in total

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