Literature DB >> 23192179

Digenic inheritance and Mendelian disease.

James R Lupski1.   

Abstract

Powerful genomic technologies, such as exome sequencing, are providing new insights into the genetics underlying Mendelian traits. A new study identifies a role for digenic inheritance and an epigenetic modifier in facioscapulohumeral muscular dystrophy type 2.

Entities:  

Mesh：

Year:  2012        PMID： 23192179     DOI： 10.1038/ng.2479

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  15 in total

1.  Clan genomics and the complex architecture of human disease.

Authors:  James R Lupski; John W Belmont; Eric Boerwinkle; Richard A Gibbs
Journal:  Cell       Date:  2011-09-30       Impact factor: 41.582

2.  Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci.

Authors:  K Kajiwara; E L Berson; T P Dryja
Journal:  Science       Date:  1994-06-10       Impact factor: 47.728

3.  Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa.

Authors:  C J Loewen; O L Moritz; R S Molday
Journal:  J Biol Chem       Date:  2001-04-10       Impact factor: 5.157

4.  An N-ethyl-N-nitrosourea screen for genes involved in variegation in the mouse.

Authors:  Marnie E Blewitt; Nicola K Vickaryous; Sarah J Hemley; Alyson Ashe; Timothy J Bruxner; Jost I Preis; Ruth Arkell; Emma Whitelaw
Journal:  Proc Natl Acad Sci U S A       Date:  2005-05-12       Impact factor: 11.205

5.  Diagnostic exome sequencing in persons with severe intellectual disability.

Authors:  Joep de Ligt; Marjolein H Willemsen; Bregje W M van Bon; Tjitske Kleefstra; Helger G Yntema; Thessa Kroes; Anneke T Vulto-van Silfhout; David A Koolen; Petra de Vries; Christian Gilissen; Marisol del Rosario; Alexander Hoischen; Hans Scheffer; Bert B A de Vries; Han G Brunner; Joris A Veltman; Lisenka E L M Vissers
Journal:  N Engl J Med       Date:  2012-10-03       Impact factor: 91.245

6.  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

7.  Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Authors:  Santhosh Girirajan; Jill A Rosenfeld; Bradley P Coe; Sumit Parikh; Neil Friedman; Amy Goldstein; Robyn A Filipink; Juliann S McConnell; Brad Angle; Wendy S Meschino; Marjan M Nezarati; Alexander Asamoah; Kelly E Jackson; Gordon C Gowans; Judith A Martin; Erin P Carmany; David W Stockton; Rhonda E Schnur; Lynette S Penney; Donna M Martin; Salmo Raskin; Kathleen Leppig; Heidi Thiese; Rosemarie Smith; Erika Aberg; Dmitriy M Niyazov; Luis F Escobar; Dima El-Khechen; Kisha D Johnson; Robert R Lebel; Kiana Siefkas; Susie Ball; Natasha Shur; Marianne McGuire; Campbell K Brasington; J Edward Spence; Laura S Martin; Carol Clericuzio; Blake C Ballif; Lisa G Shaffer; Evan E Eichler
Journal:  N Engl J Med       Date:  2012-09-12       Impact factor: 91.245

8.  Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants.

Authors:  Ayman W El-Hattab; Feng Zhang; Rolanda Maxim; Katherine M Christensen; Jewell C Ward; Stacy Hines-Dowell; Fernando Scaglia; James R Lupski; Sau Wai Cheung
Journal:  Genet Med       Date:  2010-09       Impact factor: 8.822

9.  TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

Authors:  Erica E Davis; Qi Zhang; Qin Liu; Bill H Diplas; Lisa M Davey; Jane Hartley; Corinne Stoetzel; Katarzyna Szymanska; Gokul Ramaswami; Clare V Logan; Donna M Muzny; Alice C Young; David A Wheeler; Pedro Cruz; Margaret Morgan; Lora R Lewis; Praveen Cherukuri; Baishali Maskeri; Nancy F Hansen; James C Mullikin; Robert W Blakesley; Gerard G Bouffard; Gabor Gyapay; Susanne Rieger; Burkhard Tönshoff; Ilse Kern; Neveen A Soliman; Thomas J Neuhaus; Kathryn J Swoboda; Hulya Kayserili; Tomas E Gallagher; Richard A Lewis; Carsten Bergmann; Edgar A Otto; Sophie Saunier; Peter J Scambler; Philip L Beales; Joseph G Gleeson; Eamonn R Maher; Tania Attié-Bitach; Hélène Dollfus; Colin A Johnson; Eric D Green; Richard A Gibbs; Friedhelm Hildebrandt; Eric A Pierce; Nicholas Katsanis
Journal:  Nat Genet       Date:  2011-01-23       Impact factor: 38.330

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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  25 in total

1.  GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II.

Authors:  Roberta Russo; Immacolata Andolfo; Antonella Gambale; Gianluca De Rosa; Francesco Manna; Alessandra Arillo; Farooq Wandroo; Maria Grazia Bisconte; Achille Iolascon
Journal:  Haematologica       Date:  2017-05-26       Impact factor: 9.941

Review 2.  Clinical genomics: from a truly personal genome viewpoint.

Authors:  James R Lupski
Journal:  Hum Genet       Date:  2016-05-25       Impact factor: 4.132

3.  Understanding mutational effects in digenic diseases.

Authors:  Andrea Gazzo; Daniele Raimondi; Dorien Daneels; Yves Moreau; Guillaume Smits; Sonia Van Dooren; Tom Lenaerts
Journal:  Nucleic Acids Res       Date:  2017-09-06       Impact factor: 16.971

4.  PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis.

Authors:  Immacolata Andolfo; Francesco Manna; Gianluca De Rosa; Barbara Eleni Rosato; Antonella Gambale; Giovanna Tomaiuolo; Antonio Carciati; Roberta Marra; Lucia De Franceschi; Achille Iolascon; Roberta Russo
Journal:  Haematologica       Date:  2017-11-30       Impact factor: 9.941

Review 5.  Genetic advances in craniosynostosis.

Authors:  Wanda Lattanzi; Marta Barba; Lorena Di Pietro; Simeon A Boyadjiev
Journal:  Am J Med Genet A       Date:  2017-02-04       Impact factor: 2.802

6.  The simplest explanation does not have to be preferred: co-occurrence of pathogenic variants in cancer-predisposing genes.

Authors:  Sergi Castellví-Bel
Journal:  Eur J Hum Genet       Date:  2022-01-04       Impact factor: 4.246

Review 7.  Somatic mosaicism: implications for disease and transmission genetics.

Authors:  Ian M Campbell; Chad A Shaw; Pawel Stankiewicz; James R Lupski
Journal:  Trends Genet       Date:  2015-04-21       Impact factor: 11.639

Review 8.  Multiplicity of hormone-secreting tumors: common themes about cause, expression, and management.

Authors:  Stephen J Marx
Journal:  J Clin Endocrinol Metab       Date:  2013-06-14       Impact factor: 5.958

9.  2012 highlights in translational 'omics.

Authors:  Charles Auffray; Timothy Caulfield; Muin J Khoury; James R Lupski; Matthias Schwab; Timothy Veenstra
Journal:  Genome Med       Date:  2013-01-31       Impact factor: 11.117

Review 10.  Insights into genetics, human biology and disease gleaned from family based genomic studies.

Authors:  Jennifer E Posey; Anne H O'Donnell-Luria; Jessica X Chong; Tamar Harel; Shalini N Jhangiani; Zeynep H Coban Akdemir; Steven Buyske; Davut Pehlivan; Claudia M B Carvalho; Samantha Baxter; Nara Sobreira; Pengfei Liu; Nan Wu; Jill A Rosenfeld; Sushant Kumar; Dimitri Avramopoulos; Janson J White; Kimberly F Doheny; P Dane Witmer; Corinne Boehm; V Reid Sutton; Donna M Muzny; Eric Boerwinkle; Murat Günel; Deborah A Nickerson; Shrikant Mane; Daniel G MacArthur; Richard A Gibbs; Ada Hamosh; Richard P Lifton; Tara C Matise; Heidi L Rehm; Mark Gerstein; Michael J Bamshad; David Valle; James R Lupski
Journal:  Genet Med       Date:  2019-01-18       Impact factor: 8.822
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