Literature DB >> 29661788

Germ line tissues for optimal detection of somatic variants in myelodysplastic syndromes.

Eric Padron1, Markus C Ball1, Jamie K Teer2, Jeffrey S Painter3, Sean J Yoder4, Chaomei Zhang4, Ling Zhang5, Lynn C Moscinski5, Dana E Rollison6, Steven D Gore7, Rafael Bejar8, Matthew J Walter9, Mikkael A Sekeres10, Rami S Komrokji1, Pearlie K Epling-Burnette1,3.   

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Year:  2018        PMID: 29661788      PMCID: PMC5969383          DOI: 10.1182/blood-2018-01-827881

Source DB:  PubMed          Journal:  Blood        ISSN: 0006-4971            Impact factor:   22.113


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  12 in total

1.  VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing.

Authors:  Daniel C Koboldt; Qunyuan Zhang; David E Larson; Dong Shen; Michael D McLellan; Ling Lin; Christopher A Miller; Elaine R Mardis; Li Ding; Richard K Wilson
Journal:  Genome Res       Date:  2012-02-02       Impact factor: 9.043

Review 2.  Myelodysplastic syndromes classification and risk stratification.

Authors:  Rami S Komrokji; Ling Zhang; John M Bennett
Journal:  Hematol Oncol Clin North Am       Date:  2010-04       Impact factor: 3.722

3.  Circos: an information aesthetic for comparative genomics.

Authors:  Martin Krzywinski; Jacqueline Schein; Inanç Birol; Joseph Connors; Randy Gascoyne; Doug Horsman; Steven J Jones; Marco A Marra
Journal:  Genome Res       Date:  2009-06-18       Impact factor: 9.043

4.  High concordance of genomic and cytogenetic aberrations between peripheral blood and bone marrow in myelodysplastic syndrome (MDS).

Authors:  A M Mohamedali; J Gäken; M Ahmed; F Malik; A E Smith; S Best; S Mian; T Gaymes; R Ireland; A G Kulasekararaj; G J Mufti
Journal:  Leukemia       Date:  2015-05-06       Impact factor: 11.528

5.  Utility of peripheral blood for cytogenetic and mutation analysis in myelodysplastic syndrome.

Authors:  Azim M Mohamedali; Heba Alkhatabi; Austin Kulasekararaj; Sneha Shinde; Syed Mian; Farooq Malik; Alexander E Smith; Joop Gäken; Ghulam J Mufti
Journal:  Blood       Date:  2013-06-12       Impact factor: 22.113

6.  Strelka: accurate somatic small-variant calling from sequenced tumor-normal sample pairs.

Authors:  Christopher T Saunders; Wendy S W Wong; Sajani Swamy; Jennifer Becq; Lisa J Murray; R Keira Cheetham
Journal:  Bioinformatics       Date:  2012-05-10       Impact factor: 6.937

7.  Integrative genomics viewer.

Authors:  James T Robinson; Helga Thorvaldsdóttir; Wendy Winckler; Mitchell Guttman; Eric S Lander; Gad Getz; Jill P Mesirov
Journal:  Nat Biotechnol       Date:  2011-01       Impact factor: 54.908

8.  Comprehensive molecular characterization of human colon and rectal cancer.

Authors: 
Journal:  Nature       Date:  2012-07-18       Impact factor: 49.962

9.  Evaluating somatic tumor mutation detection without matched normal samples.

Authors:  Jamie K Teer; Yonghong Zhang; Lu Chen; Eric A Welsh; W Douglas Cress; Steven A Eschrich; Anders E Berglund
Journal:  Hum Genomics       Date:  2017-09-04       Impact factor: 4.639

10.  Clinical and biological implications of driver mutations in myelodysplastic syndromes.

Authors:  Elli Papaemmanuil; Moritz Gerstung; Luca Malcovati; Sudhir Tauro; Gunes Gundem; Peter Van Loo; Chris J Yoon; Peter Ellis; David C Wedge; Andrea Pellagatti; Adam Shlien; Michael John Groves; Simon A Forbes; Keiran Raine; Jon Hinton; Laura J Mudie; Stuart McLaren; Claire Hardy; Calli Latimer; Matteo G Della Porta; Sarah O'Meara; Ilaria Ambaglio; Anna Galli; Adam P Butler; Gunilla Walldin; Jon W Teague; Lynn Quek; Alex Sternberg; Carlo Gambacorti-Passerini; Nicholas C P Cross; Anthony R Green; Jacqueline Boultwood; Paresh Vyas; Eva Hellstrom-Lindberg; David Bowen; Mario Cazzola; Michael R Stratton; Peter J Campbell
Journal:  Blood       Date:  2013-09-12       Impact factor: 22.113

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  10 in total

1.  The National MDS Natural History Study: design of an integrated data and sample biorepository to promote research studies in myelodysplastic syndromes.

Authors:  Mikkael A Sekeres; Steven D Gore; Donald M Stablein; Nancy DiFronzo; Gregory A Abel; Amy E DeZern; Jesse D Troy; Dana E Rollison; John W Thomas; Myron A Waclawiw; Jane Jijun Liu; Tareq Al Baghdadi; Matthew J Walter; Rafael Bejar; Edward J Gorak; Daniel T Starczynowski; James M Foran; James R Cerhan; Lynn C Moscinski; Rami S Komrokji; H Joachim Deeg; Pearlie K Epling-Burnette
Journal:  Leuk Lymphoma       Date:  2019-05-21

2.  Genetic predisposition to MDS: diagnosis and management.

Authors:  Elissa Furutani; Akiko Shimamura
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2019-12-06

Review 3.  Role of Germline Predisposition to Therapy-Related Myeloid Neoplasms.

Authors:  Anmol Baranwal; Christopher N Hahn; Mithun Vinod Shah; Devendra K Hiwase
Journal:  Curr Hematol Malig Rep       Date:  2022-08-20       Impact factor: 4.213

Review 4.  Somatic mosaicism in inherited bone marrow failure syndromes.

Authors:  Fernanda Gutierrez-Rodrigues; Sushree S Sahoo; Marcin W Wlodarski; Neal S Young
Journal:  Best Pract Res Clin Haematol       Date:  2021-06-27       Impact factor: 3.670

Review 5.  Germline CHEK2 and ATM Variants in Myeloid and Other Hematopoietic Malignancies.

Authors:  Ryan J Stubbins; Sophia Korotev; Lucy A Godley
Journal:  Curr Hematol Malig Rep       Date:  2022-06-08       Impact factor: 4.213

Review 6.  Hereditary Myelodysplastic Syndrome and Acute Myeloid Leukemia: Diagnosis, Questions, and Controversies.

Authors:  Imo J Akpan; Afaf E G Osman; Michael W Drazer; Lucy A Godley
Journal:  Curr Hematol Malig Rep       Date:  2018-12       Impact factor: 3.952

Review 7.  Genetic Predisposition to Myelodysplastic Syndrome in Clinical Practice.

Authors:  Kristen E Schratz; Amy E DeZern
Journal:  Hematol Oncol Clin North Am       Date:  2020-01-06       Impact factor: 3.722

8.  "Somatic" and "pathogenic" - is the classification strategy applicable in times of large-scale sequencing?

Authors:  Constance Baer; Wencke Walter; Stephan Hutter; Sven Twardziok; Manja Meggendorfer; Wolfgang Kern; Torsten Haferlach; Claudia Haferlach
Journal:  Haematologica       Date:  2019-07-04       Impact factor: 9.941

9.  Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.

Authors:  Lia DeRoin; Marcela Cavalcante de Andrade Silva; Kristin Petras; Kelly Arndt; Nathaniel Phillips; Pankhuri Wanjari; Hari Prasanna Subramanian; David Montes; James McElherne; Megan Theissen; Renee Briese; Soma Das; Lucy A Godley; Jeremy Segal; Daniela Del Gaudio; Carrie Fitzpatrick; Jane E Churpek
Journal:  Hum Mutat       Date:  2022-04-14       Impact factor: 4.700

10.  Unique ethnic features of DDX41 mutations in patients with idiopathic cytopenia of undetermined significance, myelodysplastic syndrome, or acute myeloid leukemia.

Authors:  Eun-Ji Choi; Young-Uk Cho; Eun-Hye Hur; Seongsoo Jang; Nayoung Kim; Han-Seung Park; Jung-Hee Lee; Kyoo-Hyung Lee; Si-Hwan Kim; Sang-Hyun Hwang; Eul-Ju Seo; Chan-Jeoung Park; Je-Hwan Lee
Journal:  Haematologica       Date:  2022-02-01       Impact factor: 9.941

  10 in total

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