Additive Diagnostic Yield of Homozygosity Regions Identified During Chromosomal microarray Testing in Children with Developmental Delay, Dysmorphic Features or Congenital Anomalies-Reference-Cited by-同舟云学术

Additive Diagnostic Yield of Homozygosity Regions Identified During Chromosomal microarray Testing in Children with Developmental Delay, Dysmorphic Features or Congenital Anomalies

Published:2019-07-04 Issue:1 Volume:58 Page:74-101
ISSN:0006-2928
Container-title:Biochemical Genetics
language:en
Short-container-title:Biochem Genet

Author:

Ali Mohamed A. M.,Hassan Abdelrahman M.,Saafan Mosaab A.,Abdelmagid Adel A.

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine,Ecology, Evolution, Behavior and Systematics,Biochemistry

Link

http://link.springer.com/content/pdf/10.1007/s10528-019-09931-3.pdf

Reference49 articles.

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5. Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE (2011) A copy number variation morbidity map of developmental delay. Nat Genet 43(9):838–846

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3. Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients;American Journal of Medical Genetics Part A;2022-02-23

4. Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investigated by chromosomal microarray analysis;Genetics and Molecular Biology;2022