Literature DB >> 26917736

Inherited DDX41 mutations: 11 genes and counting.

Kiran Tawana1, Jude Fitzgibbon1.   

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Year:  2016        PMID： 26917736     DOI： 10.1182/blood-2016-01-690909

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


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  8 in total

1.  Familial predisposition to TP53/complex karyotype MDS and leukemia in DNA repair-deficient xeroderma pigmentosum.

Authors:  Alain Sarasin; Samuel Quentin; Nathalie Droin; Mourad Sahbatou; Véronique Saada; Nathalie Auger; Yannick Boursin; Philippe Dessen; Anna Raimbault; Vahid Asnafi; Jean-Luc Schmutz; Alain Taïeb; Carlos F M Menck; Filippo Rosselli; Laurianne Drieu La Rochelle; Caroline Robert; Flore Sicre de Fontbrune; Marie Sébert; Thierry Leblanc; Patricia Kannouche; Stéphane De Botton; Eric Solary; Jean Soulier
Journal:  Blood       Date:  2019-03-26       Impact factor: 22.113

2.  Re-emergence of acute myeloid leukemia in donor cells following allogeneic transplantation in a family with a germline DDX41 mutation.

Authors:  G Berger; E van den Berg; B Sikkema-Raddatz; K M Abbott; R J Sinke; L B Bungener; A B Mulder; E Vellenga
Journal:  Leukemia       Date:  2016-10-31       Impact factor: 11.528

3.  Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies.

Authors:  Michael W Drazer; Sabah Kadri; Madina Sukhanova; Sushant A Patil; Allison H West; Simone Feurstein; Dalein A Calderon; Matthew F Jones; Caroline M Weipert; Christopher K Daugherty; Adrián A Ceballos-López; Gordana Raca; Mark W Lingen; Zejuan Li; Jeremy P Segal; Jane E Churpek; Lucy A Godley
Journal:  Blood Adv       Date:  2018-01-23

Review 4.  Spliceosomal factor mutations and mis-splicing in MDS.

Authors:  Courtney E Hershberger; Noah J Daniels; Richard A Padgett
Journal:  Best Pract Res Clin Haematol       Date:  2020-08-01       Impact factor: 3.020

Review 5.  Discussing and managing hematologic germ line variants.

Authors:  Wendy Kohlmann; Joshua D Schiffman
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2016-12-02

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

7.  Assessment of technical heterogeneity among diagnostic tests to detect germline risk variants for hematopoietic malignancies.

Authors:  Gregory W Roloff; Lucy A Godley; Michael W Drazer
Journal:  Genet Med       Date:  2020-08-18       Impact factor: 8.864

8.  Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up.

Authors:  Panagiotis Baliakas; Bianca Tesi; Ulla Wartiovaara-Kautto; Asbjørg Stray-Pedersen; Lone Smidstrup Friis; Ingunn Dybedal; Randi Hovland; Kirsi Jahnukainen; Klas Raaschou-Jensen; Per Ljungman; Cecilie F Rustad; Charlotte K Lautrup; Outi Kilpivaara; Astrid Olsnes Kittang; Kirsten Grønbæk; Jörg Cammenga; Eva Hellström-Lindberg; Mette K Andersen
Journal:  Hemasphere       Date:  2019-11-04
  8 in total

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