Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities-Reference-Cited by-同舟云学术

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

Published:2019-08-13 Issue:10 Volume:179 Page:2056-2066
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Karaca Ender¹,Posey Jennifer E.¹^ORCID,Bostwick Bret¹²,Liu Pengfei¹,Gezdirici Alper³,Yesil Gozde⁴,Coban Akdemir Zeynep¹,Bayram Yavuz¹,Harms Frederike L.⁵,Meinecke Peter⁵,Alawi Malik⁶⁷⁸,Bacino Carlos A.¹²,Sutton V. Reid¹²,Kortüm Fanny⁵,Lupski James R.¹²⁹¹⁰

Affiliation:

1. Department of Molecular and Human GeneticsBaylor College of Medicine Houston Texas

2. Texas Children's HospitalBaylor College of Medicine Houston Texas

3. Department of Medical GeneticsKanuni Sultan Suleyman Training and Research Hospital Istanbul Turkey

4. Department of Medical GeneticsBezmialem University Istanbul Turkey

5. Institute of Human GeneticsUniversity Medical Center Hamburg‐Eppendorf Hamburg Germany

6. Bioinformatics Service FacilityUniversity Medical Center Hamburg–Eppendorf Hamburg Germany

7. Center for BioinformaticsUniversity of Hamburg Hamburg Germany

8. Heinrich Pette InstituteLeibniz Institute for Experimental Virology Virus Genomics, Hamburg Germany

9. Human Genome Sequencing CenterBaylor College of Medicine Houston Texas

10. Department of PediatricsBaylor College of Medicine 1 Baylor Plaza, Houston Texas

Funder

Deutsche Forschungsgemeinschaft

National Human Genome Research Institute

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61315

Reference37 articles.

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4. The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome;European Journal of Human Genetics;2023-04-14

5. Prognostic Value of DONSON Expression in Different Tumors and Use of qRT-PCR for the Verification of mRNA Expression in Breast Cancer and Non-Cancer Cell Lines;J BIOL REG HOMEOS AG;2022