Literature DB >> 31491408

Mendelian Gene Discovery: Fast and Furious with No End in Sight.

Michael J Bamshad1, Deborah A Nickerson2, Jessica X Chong3.   

Abstract

Gene discovery for Mendelian conditions (MCs) offers a direct path to understanding genome function. Approaches based on next-generation sequencing applied at scale have dramatically accelerated gene discovery and transformed genetic medicine. Finding the genetic basis of ∼6,000-13,000 MCs yet to be delineated will require both technical and computational innovation, but will rely to a larger extent on meaningful data sharing.
Copyright © 2019 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Mesh：

Year:  2019        PMID： 31491408      PMCID： PMC6731362          DOI： 10.1016/j.ajhg.2019.07.011

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  34 in total

1.  A de novo paradigm for mental retardation.

Authors:  Lisenka E L M Vissers; Joep de Ligt; Christian Gilissen; Irene Janssen; Marloes Steehouwer; Petra de Vries; Bart van Lier; Peer Arts; Nienke Wieskamp; Marisol del Rosario; Bregje W M van Bon; Alexander Hoischen; Bert B A de Vries; Han G Brunner; Joris A Veltman
Journal:  Nat Genet       Date:  2010-11-14       Impact factor: 38.330

Review 2.  Mendelian disorders deserve more attention.

Authors:  Stylianos E Antonarakis; Jacques S Beckmann
Journal:  Nat Rev Genet       Date:  2006-04       Impact factor: 53.242

3.  Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus.

Authors:  Malte Spielmann; Francesco Brancati; Peter M Krawitz; Peter N Robinson; Daniel M Ibrahim; Martin Franke; Jochen Hecht; Silke Lohan; Katarina Dathe; Anna Maria Nardone; Paola Ferrari; Antonio Landi; Lars Wittler; Bernd Timmermann; Danny Chan; Ulrich Mennen; Eva Klopocki; Stefan Mundlos
Journal:  Am J Hum Genet       Date:  2012-09-27       Impact factor: 11.025

4.  Pediatric data sharing in genomic research: attitudes and preferences of parents.

Authors:  Matthew D Burstein; Jill Oliver Robinson; Susan G Hilsenbeck; Amy L McGuire; Ching C Lau
Journal:  Pediatrics       Date:  2014-03-10       Impact factor: 7.124

5.  A CFTR potentiator in patients with cystic fibrosis and the G551D mutation.

Authors:  Bonnie W Ramsey; Jane Davies; N Gerard McElvaney; Elizabeth Tullis; Scott C Bell; Pavel Dřevínek; Matthias Griese; Edward F McKone; Claire E Wainwright; Michael W Konstan; Richard Moss; Felix Ratjen; Isabelle Sermet-Gaudelus; Steven M Rowe; Qunming Dong; Sally Rodriguez; Karl Yen; Claudia Ordoñez; J Stuart Elborn
Journal:  N Engl J Med       Date:  2011-11-03       Impact factor: 91.245

6.  Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

Authors:  Sarah B Ng; Abigail W Bigham; Kati J Buckingham; Mark C Hannibal; Margaret J McMillin; Heidi I Gildersleeve; Anita E Beck; Holly K Tabor; Gregory M Cooper; Heather C Mefford; Choli Lee; Emily H Turner; Joshua D Smith; Mark J Rieder; Koh-Ichiro Yoshiura; Naomichi Matsumoto; Tohru Ohta; Norio Niikawa; Deborah A Nickerson; Michael J Bamshad; Jay Shendure
Journal:  Nat Genet       Date:  2010-08-15       Impact factor: 38.330

7.  Targeted capture and massively parallel sequencing of 12 human exomes.

Authors:  Sarah B Ng; Emily H Turner; Peggy D Robertson; Steven D Flygare; Abigail W Bigham; Choli Lee; Tristan Shaffer; Michelle Wong; Arindam Bhattacharjee; Evan E Eichler; Michael Bamshad; Deborah A Nickerson; Jay Shendure
Journal:  Nature       Date:  2009-08-16       Impact factor: 49.962

8.  Exome sequencing identifies the cause of a mendelian disorder.

Authors:  Sarah B Ng; Kati J Buckingham; Choli Lee; Abigail W Bigham; Holly K Tabor; Karin M Dent; Chad D Huff; Paul T Shannon; Ethylin Wang Jabs; Deborah A Nickerson; Jay Shendure; Michael J Bamshad
Journal:  Nat Genet       Date:  2009-11-13       Impact factor: 38.330

9.  The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated.

Authors:  Matthew Might; Matt Wilsey
Journal:  Genet Med       Date:  2014-03-20       Impact factor: 8.822

10.  Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.

Authors:  Cornelis A Albers; Dirk S Paul; Harald Schulze; Kathleen Freson; Jonathan C Stephens; Peter A Smethurst; Jennifer D Jolley; Ana Cvejic; Myrto Kostadima; Paul Bertone; Martijn H Breuning; Najet Debili; Panos Deloukas; Rémi Favier; Janine Fiedler; Catherine M Hobbs; Ni Huang; Matthew E Hurles; Graham Kiddle; Ingrid Krapels; Paquita Nurden; Claudia A L Ruivenkamp; Jennifer G Sambrook; Kenneth Smith; Derek L Stemple; Gabriele Strauss; Chantal Thys; Chris van Geet; Ruth Newbury-Ecob; Willem H Ouwehand; Cedric Ghevaert
Journal:  Nat Genet       Date:  2012-02-26       Impact factor: 38.330
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  52 in total

Review 1.  The frontiers of sequencing in undiagnosed neurodevelopmental diseases.

Authors:  Hane Lee; Stanley F Nelson
Journal:  Curr Opin Genet Dev       Date:  2020-06-27       Impact factor: 5.578

2.  MendelVar: gene prioritisation at GWAS loci using phenotypic enrichment of mendelian disease genes.

Authors:  Sobczyk M K; Gaunt T R; Paternoster L
Journal:  Bioinformatics       Date:  2021-01-16       Impact factor: 6.937

3.  Clinical genomics and contextualizing genome variation in the diagnostic laboratory.

Authors:  James R Lupski; Pengfei Liu; Pawel Stankiewicz; Claudia M B Carvalho; Jennifer E Posey
Journal:  Expert Rev Mol Diagn       Date:  2020-10-10       Impact factor: 5.225

Review 4.  Using Drosophila to drive the diagnosis and understand the mechanisms of rare human diseases.

Authors:  Nichole Link; Hugo J Bellen
Journal:  Development       Date:  2020-09-28       Impact factor: 6.868

5.  The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders.

Authors:  Sarah J Beecroft; Phillipa J Lamont; Samantha Edwards; Hayley Goullée; Mark R Davis; Nigel G Laing; Gianina Ravenscroft
Journal:  Mol Diagn Ther       Date:  2020-09-30       Impact factor: 4.074

Review 6.  Closing in on Mechanisms of Open Neural Tube Defects.

Authors:  Sangmoon Lee; Joseph G Gleeson
Journal:  Trends Neurosci       Date:  2020-05-15       Impact factor: 13.837

Review 7.  Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.

Authors:  Zornitza Stark; Rebecca E Foulger; Eleanor Williams; Bryony A Thompson; Chirag Patel; Sebastian Lunke; Catherine Snow; Ivone U S Leong; Arina Puzriakova; Louise C Daugherty; Sarah Leigh; Christopher Boustred; Olivia Niblock; Antonio Rueda-Martin; Oleg Gerasimenko; Kevin Savage; William Bellamy; Victor San Kho Lin; Roman Valls; Lavinia Gordon; Helen K Brittain; Ellen R A Thomas; Ana Lisa Taylor Tavares; Meriel McEntagart; Susan M White; Tiong Y Tan; Alison Yeung; Lilian Downie; Ivan Macciocca; Elena Savva; Crystle Lee; Ain Roesley; Paul De Fazio; Jane Deller; Zandra C Deans; Sue L Hill; Mark J Caulfield; Kathryn N North; Richard H Scott; Augusto Rendon; Oliver Hofmann; Ellen M McDonagh
Journal:  Am J Hum Genet       Date:  2021-07-29       Impact factor: 11.025

8.  MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes.

Authors:  M K Sobczyk; T R Gaunt; L Paternoster
Journal:  Bioinformatics       Date:  2021-04-09       Impact factor: 6.937

9.  Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry.

Authors:  Juliann M Savatt; Danielle R Azzariti; David H Ledbetter; Emily Palen; Heidi L Rehm; Erin Rooney Riggs; Christa Lese Martin
Journal:  Genet Med       Date:  2021-05-18       Impact factor: 8.822

10.  Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network.

Authors:  Kimberly LeBlanc; Emily G Kelley; Anna Nagy; Jorick Bater; Tala Berro; Molly A McGuinness; Courtney Studwell; Matthew Might
Journal:  Orphanet J Rare Dis       Date:  2021-05-10       Impact factor: 4.123
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