Refining the phenotype associated with biallelic DNAJC21 mutations-Reference-Cited by-同舟云学术

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Refining the phenotype associated with biallelic DNAJC21 mutations

Published:2018-06-07 Issue:2 Volume:94 Page:252-258
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

D'Amours G.¹²^ORCID,Lopes F.³⁴⁵,Gauthier J.⁶,Saillour V.³⁷,Nassif C.³,Wynn R.⁸,Alos N.⁹¹⁰,Leblanc T.¹¹,Capri Y.¹²,Nizard S.¹¹⁰,Lemyre E.¹¹⁰,Michaud J.L.¹³⁷¹⁰,Pelletier V.-A.¹⁰¹³,Pastore Y.D.¹⁰¹⁴,Soucy J.-F.¹⁶¹⁰

Affiliation:

1. Service de Génétique Médicale; CHU Sainte-Justine; Montréal Canada

2. Faculté de Médecine; Université de Montréal; Montréal Canada

3. Centre de Recherche; CHU Sainte-Justine; Montréal Canada

4. Life and Health Sciences Research Institute (ICVS), School of Medicine; University of Minho; Braga Portugal

5. ICVS/3B's - PT Government Associate Laboratory; Braga/Guimarães Portugal

6. Laboratoire de Diagnostic Moléculaire; CHU Sainte-Justine; Montréal Canada

7. Centre Intégré de Génomique Clinique Pédiatrique; Montréal Canada

8. Blood and Marrow Transplant Unit; Royal Manchester Children's Hospital; Manchester UK

9. Service d'Endocrinologie; CHU Sainte-Justine; Montréal Canada

10. Département de Pédiatrie; Université de Montréal; Montréal Canada

11. Département d'Hématologie Pédiatrique; CHU Robert-Debré; Paris France

12. Service de Génétique Clinique; CHU Robert-Debré; Paris France

13. Département de Pédiatrie; CHU Sainte-Justine; Montréal Canada

14. Service d'Hématologie-Oncologie; CHU Sainte-Justine; Montréal Canada

Funder

FCT - Fundação para a Ciência e a Tecnologia

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13370/fullpdf

Reference10 articles.

1. The genomics of inherited bone marrow failure: from mechanism to the clinic;Wegman-Ostrosky;Br J Haematol,2017

2. DNAJC21 mutations link a cancer-prone bone marrow failure syndrome to corruption in 60S ribosome subunit maturation;Tummala;Am J Hum Genet,2016

3. Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome;Dhanraj;Blood,2017

4. A landscape of germline mutations in a cohort of inherited bone marrow failure patients;Bluteau;Blood,2018

5. ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007;Richards;Genet Med,2008

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1. Germline predisposition to myeloid neoplasms: Characteristics and management of high versus variable penetrance disorders;Best Practice & Research Clinical Haematology;2024-02

2. Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants;Haematologica;2023-05-25

3. DNAJC21‐related thrombocytopenia in a young adult female;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2023-04-26

4. Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle;Frontiers in Oncology;2023-04-06

5. Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances;Blood;2023-03-30

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