Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting-Reference-Cited by-同舟云学术

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Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting

Published:2008 Issue:1-4 Volume:123 Page:65-78
ISSN:1424-8581
Container-title:Cytogenetic and Genome Research
language:en
Short-container-title:Cytogenet Genome Res

Author:

Goobie S.,Knijnenburg J.,FitzPatrick D.,Sharkey F.H.,Lionel A.C.,Marshall C.R.,Azam T.,Shago M.,Chong K.,Mendoza-Londono R.,den Hollander N.S.,Ruivenkamp C.,Maher E.,Tanke H.J.,Szuhai K.,Wintle R.F.,Scherer S.W.

Publisher

S. Karger AG

Subject

Genetics(clinical),Genetics,Molecular Biology

Cited by 40 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. 3q29 duplications: A cohort of 46 patients and a literature review;American Journal of Medical Genetics Part A;2024-02-29

2. High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing;Genome Medicine;2023-05-10

3. Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome;Clinical Dysmorphology;2023-02-17

4. Multi-modal investigation of the schizophrenia-associated 3q29 genomic interval reveals global genetic diversity with unique haplotypes and segments that increase the risk for non-allelic homologous recombination;2021-11-15

5. The conserved ASTN2/BRINP1 locus at 9q33.1–33.2 is associated with major psychiatric disorders in a large pedigree from Southern Spain;Scientific Reports;2021-07-15

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