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Literature DB >> 35450748

Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine.

Abstract

The path to completion of the functional annotation of the haploid human genome reference build, exploration of the clan genomics hypothesis, understanding human gene and genome functional biology, and gene genome and organismal evolution, is in reach.

Entities: Chemical

Keywords: clinical genomics; genome mutation; genomic disorders; mirror traits; precision medicine; rare disease

Mesh：

Year: 2022 PMID： 35450748 PMCID： PMC9222541 DOI： 10.1016/j.tig.2022.03.001

Source DB: PubMed Journal: Trends Genet ISSN： 0168-9525 Impact factor: 11.821

109 in total

1. alpha-Synuclein locus triplication causes Parkinson's disease.

Authors: A B Singleton; M Farrer; J Johnson; A Singleton; S Hague; J Kachergus; M Hulihan; T Peuralinna; A Dutra; R Nussbaum; S Lincoln; A Crawley; M Hanson; D Maraganore; C Adler; M R Cookson; M Muenter; M Baptista; D Miller; J Blancato; J Hardy; K Gwinn-Hardy
Journal: Science Date: 2003-10-31 Impact factor: 47.728

2. Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).

Authors: Katherina Walz; Richard Paylor; Jiong Yan; Weimin Bi; James R Lupski
Journal: J Clin Invest Date: 2006-10-05 Impact factor: 14.808

3. DNA duplication associated with Charcot-Marie-Tooth disease type 1A.

Authors: J R Lupski; R M de Oca-Luna; S Slaugenhaupt; L Pentao; V Guzzetta; B J Trask; O Saucedo-Cardenas; D F Barker; J M Killian; C A Garcia; A Chakravarti; P I Patel
Journal: Cell Date: 1991-07-26 Impact factor: 41.582

4. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.

Authors: Marc Cruts; Ilse Gijselinck; Julie van der Zee; Sebastiaan Engelborghs; Hans Wils; Daniel Pirici; Rosa Rademakers; Rik Vandenberghe; Bart Dermaut; Jean-Jacques Martin; Cornelia van Duijn; Karin Peeters; Raf Sciot; Patrick Santens; Tim De Pooter; Maria Mattheijssens; Marleen Van den Broeck; Ivy Cuijt; Krist'l Vennekens; Peter P De Deyn; Samir Kumar-Singh; Christine Van Broeckhoven
Journal: Nature Date: 2006-07-16 Impact factor: 49.962

5. DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.

Authors: L Potocki; K S Chen; T Koeuth; J Killian; S T Iannaccone; S K Shapira; C D Kashork; A S Spikes; L G Shaffer; J R Lupski
Journal: Am J Hum Genet Date: 1999-02 Impact factor: 11.025

6. Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

Authors: Claudia Gonzaga-Jauregui; Tamar Harel; Tomasz Gambin; Maria Kousi; Laurie B Griffin; Ludmila Francescatto; Burcak Ozes; Ender Karaca; Shalini N Jhangiani; Matthew N Bainbridge; Kim S Lawson; Davut Pehlivan; Yuji Okamoto; Marjorie Withers; Pedro Mancias; Anne Slavotinek; Pamela J Reitnauer; Meryem T Goksungur; Michael Shy; Thomas O Crawford; Michel Koenig; Jason Willer; Brittany N Flores; Igor Pediaditrakis; Onder Us; Wojciech Wiszniewski; Yesim Parman; Anthony Antonellis; Donna M Muzny; Nicholas Katsanis; Esra Battaloglu; Eric Boerwinkle; Richard A Gibbs; James R Lupski
Journal: Cell Rep Date: 2015-08-06 Impact factor: 9.423

7. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

Authors: Helen V Firth; Shola M Richards; A Paul Bevan; Stephen Clayton; Manuel Corpas; Diana Rajan; Steven Van Vooren; Yves Moreau; Roger M Pettett; Nigel P Carter
Journal: Am J Hum Genet Date: 2009-04-02 Impact factor: 11.025

8. Protective role of Engrailed in a Drosophila model of Huntington's disease.

Authors: Bruno Mugat; Marie-Laure Parmentier; Nathalie Bonneaud; Ho Yin Edwin Chan; Florence Maschat
Journal: Hum Mol Genet Date: 2008-08-20 Impact factor: 6.150

9. Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.

Authors: B B Roa; C A Garcia; U Suter; D A Kulpa; C A Wise; J Mueller; A A Welcher; G J Snipes; E M Shooter; P I Patel; J R Lupski
Journal: N Engl J Med Date: 1993-07-08 Impact factor: 91.245

10. The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

Authors: Christina DiVincenzo; Christopher D Elzinga; Adam C Medeiros; Izabela Karbassi; Jeremiah R Jones; Matthew C Evans; Corey D Braastad; Crystal M Bishop; Malgorzata Jaremko; Zhenyuan Wang; Khalida Liaquat; Carol A Hoffman; Michelle D York; Sat D Batish; James R Lupski; Joseph J Higgins
Journal: Mol Genet Genomic Med Date: 2014-08-21 Impact factor: 2.183

3 in total

1. Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant.

Authors: Jonathan Rodgers; Paweł Stankiewicz; Esra Yıldız Bölükbaşı; Justyna A Karolak; Przemyslaw Szafranski; Tomasz Gambin; Admire Matsika; Sam McManus; Hamish S Scott; Peer Arts; Thuong Ha; Christopher P Barnett
Journal: Eur J Hum Genet Date: 2022-07-28 Impact factor: 5.351

2. Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.

Authors: Ruizhi Duan; Hadia Hijazi; Elif Yilmaz Gulec; Hatice Koçak Eker; Silvia R Costa; Yavuz Sahin; Zeynep Ocak; Sedat Isikay; Ozge Ozalp; Sevcan Bozdogan; Huseyin Aslan; Nursel Elcioglu; Débora R Bertola; Alper Gezdirici; Haowei Du; Jawid M Fatih; Christopher M Grochowski; Gulsen Akay; Shalini N Jhangiani; Ender Karaca; Shen Gu; Zeynep Coban-Akdemir; Jennifer E Posey; Yavuz Bayram; V Reid Sutton; Claudia M B Carvalho; Davut Pehlivan; Richard A Gibbs; James R Lupski
Journal: HGG Adv Date: 2022-08-04

3. Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.

Authors: Bo Yuan; Katharina V Schulze; Nurit Assia Batzir; Jefferson Sinson; Hongzheng Dai; Wenmiao Zhu; Francia Bocanegra; Chin-To Fong; Jimmy Holder; Joanne Nguyen; Christian P Schaaf; Yaping Yang; Weimin Bi; Christine Eng; Chad Shaw; James R Lupski; Pengfei Liu
Journal: Genome Med Date: 2022-09-30 Impact factor: 15.266

3 in total