Literature DB >> 27959696

When One Diagnosis Is Not Enough.

Kym M Boycott1, A Micheil Innes1.   

Abstract

Mesh:

Year:  2016        PMID: 27959696     DOI: 10.1056/NEJMe1614384

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


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  12 in total

1.  Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.

Authors:  Fernanda S Jehee; Valdirene T de Oliveira; Juliana Gurgel-Giannetti; Rafaella X Pietra; Fernando V M Rubatino; Natália V Carobin; Gabrielle S Vianna; Mariana L de Freitas; Karla S Fernandes; Beatriz S V Ribeiro; Hennie T Brüggenwirth; Roza Ali-Amin; Janson J White; Zeynep C Akdemir; Shalini N Jhangiani; Richard A Gibbs; James R Lupski; Monica C Varela; Célia Koiffmann; Carla Rosenberg; Cláudia M B Carvalho
Journal:  Am J Med Genet A       Date:  2017-06-20       Impact factor: 2.802

Review 2.  Paediatric genomics: diagnosing rare disease in children.

Authors:  Caroline F Wright; David R FitzPatrick; Helen V Firth
Journal:  Nat Rev Genet       Date:  2018-02-05       Impact factor: 53.242

3.  22q and two: 22q11.2 deletion syndrome and coexisting conditions.

Authors:  Jennifer L Cohen; Terrence B Crowley; Daniel E McGinn; Carey McDougall; Marta Unolt; Michele P Lambert; Beverly S Emanuel; Elaine H Zackai; Donna M McDonald-McGinn
Journal:  Am J Med Genet A       Date:  2018-09-23       Impact factor: 2.802

4.  Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.

Authors:  Vikas Bansal; Johann Gassenhuber; Tierney Phillips; Glenn Oliveira; Rebecca Harbaugh; Nikki Villarasa; Eric J Topol; Thomas Seufferlein; Bernhard O Boehm
Journal:  BMC Med       Date:  2017-12-06       Impact factor: 8.775

5.  Lessons learned from additional research analyses of unsolved clinical exome cases.

Authors:  Mohammad K Eldomery; Zeynep Coban-Akdemir; Tamar Harel; Jill A Rosenfeld; Tomasz Gambin; Asbjørg Stray-Pedersen; Sébastien Küry; Sandra Mercier; Davor Lessel; Jonas Denecke; Wojciech Wiszniewski; Samantha Penney; Pengfei Liu; Weimin Bi; Seema R Lalani; Christian P Schaaf; Michael F Wangler; Carlos A Bacino; Richard Alan Lewis; Lorraine Potocki; Brett H Graham; John W Belmont; Fernando Scaglia; Jordan S Orange; Shalini N Jhangiani; Theodore Chiang; Harsha Doddapaneni; Jianhong Hu; Donna M Muzny; Fan Xia; Arthur L Beaudet; Eric Boerwinkle; Christine M Eng; Sharon E Plon; V Reid Sutton; Richard A Gibbs; Jennifer E Posey; Yaping Yang; James R Lupski
Journal:  Genome Med       Date:  2017-03-21       Impact factor: 11.117

6.  Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

Authors:  Christine Neuhaus; Tobias Eisenberger; Christian Decker; Sandra Nagl; Cornelia Blank; Markus Pfister; Ingo Kennerknecht; Cornelie Müller-Hofstede; Peter Charbel Issa; Raoul Heller; Bodo Beck; Klaus Rüther; Diana Mitter; Klaus Rohrschneider; Ute Steinhauer; Heike M Korbmacher; Dagmar Huhle; Solaf M Elsayed; Hesham M Taha; Shahid M Baig; Heidi Stöhr; Markus Preising; Susanne Markus; Fabian Moeller; Birgit Lorenz; Kerstin Nagel-Wolfrum; Arif O Khan; Hanno J Bolz
Journal:  Mol Genet Genomic Med       Date:  2017-07-06       Impact factor: 2.183

7.  SLE: reconciling heterogeneity.

Authors:  Michael D Lockshin; Medha Barbhaiya; Peter Izmirly; Jill P Buyon; Mary K Crow
Journal:  Lupus Sci Med       Date:  2019-02-04

8.  The blended phenotype of a germline RIT1 and a mosaic PIK3CA variant.

Authors:  Siren Berland; Jørgen Jareld; Nicholas Hickson; Helene Schlecht; Gunnar Houge; Sofia Douzgou
Journal:  Cold Spring Harb Mol Case Stud       Date:  2021-12-09

9.  Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies.

Authors:  Colleen C Muraresku; Elizabeth M McCormick; Marni J Falk
Journal:  Curr Genet Med Rep       Date:  2018-05-02

10.  Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Authors:  Caroline F Wright; Ben West; Marcus Tuke; Samuel E Jones; Kashyap Patel; Thomas W Laver; Robin N Beaumont; Jessica Tyrrell; Andrew R Wood; Timothy M Frayling; Andrew T Hattersley; Michael N Weedon
Journal:  Am J Hum Genet       Date:  2019-01-18       Impact factor: 11.025

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