Zhang H - Search Results

1

Amabile S, Jeffries L, McGrath JM, Ji W, Spencer-Manzon M, Zhang H, Lakhani SA. Amabile S, et al. Among authors: zhang h. Am J Med Genet A. 2020 Sep;182(9):2049-2057. doi: 10.1002/ajmg.a.61729. Epub 2020 Jul 13. Am J Med Genet A. 2020. PMID: 32656949

2

Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement.

Li P, Zhang HZ, Huff S, Nimmakayalu M, Qumsiyeh M, Yu J, Szekely A, Xu T, Pober BR. Li P, et al. Am J Med Genet A. 2006 Dec 15;140(24):2721-9. doi: 10.1002/ajmg.a.31498. Am J Med Genet A. 2006. PMID: 17103440

3

A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.

Chai H, DiAdamo A, Grommisch B, Xu F, Zhou Q, Wen J, Mahoney M, Bale A, McGrath J, Spencer-Manzon M, Li P, Zhang H. Chai H, et al. Among authors: zhang h. Front Genet. 2019 Nov 20;10:1162. doi: 10.3389/fgene.2019.01162. eCollection 2019. Front Genet. 2019. PMID: 31850057 Free PMC article.

4

[A review of consensus statements, practice resources, standards and guidelines for clinical applications of next-generation sequencing technologies in the United States].

Zhao C, Xie X, Ji W, Qi M, Zhou Q, Li M, Li P, Jiang Y, Zhang H. Zhao C, et al. Among authors: zhang h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Jun 10;38(6):513-520. doi: 10.3760/cma.j.cn511374-20200924-00691. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 34096016 Review. Chinese.

5

D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia.

Werner KM, Cox AJ, Qian E, Jain P, Ji W, Tikhonova I, Castaldi C, Bilguvar K, Knight J, Ferdinandusse S, Fawaz R, Jiang YH, Gallagher PG, Bizzarro M, Gruen JR, Bale A, Zhang H. Werner KM, et al. Among authors: zhang h. Am J Med Genet A. 2022 Jan;188(1):357-363. doi: 10.1002/ajmg.a.62520. Epub 2021 Oct 8. Am J Med Genet A. 2022. PMID: 34623748 Free PMC article.

6

Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.

Wen J, Chai H, Grommisch B, DiAdamo A, Dykas D, Ma D, Popa A, Zhao C, Spencer-Manzon M, Jiang YH, McGrath J, Li P, Bale A, Zhang H. Wen J, et al. Among authors: zhang h. Am J Med Genet A. 2022 Jun;188(6):1728-1738. doi: 10.1002/ajmg.a.62693. Epub 2022 Feb 23. Am J Med Genet A. 2022. PMID: 35199448

7

A retrospective cohort analysis of the Yale pediatric genomics discovery program.

Al-Ali S, Jeffries L, Faustino EVS, Ji W, Mis E, Konstantino M, Zerillo C, Jiang YH, Spencer-Manzon M, Bale A, Zhang H, McGlynn J, McGrath JM, Tremblay T, Brodsky NN, Lucas CL, Pierce R, Deniz E, Khokha MK, Lakhani SA. Al-Ali S, et al. Among authors: zhang h. Am J Med Genet A. 2022 Oct;188(10):2869-2878. doi: 10.1002/ajmg.a.62918. Epub 2022 Jul 28. Am J Med Genet A. 2022. PMID: 35899841 Free PMC article.

8

Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142 : A Case Report and Review of the UPD2 Literature.

Kelkar J, DiMaio M, Ma D, Zhang H. Kelkar J, et al. Among authors: zhang h. Glob Med Genet. 2024 Mar 26;11(1):100-112. doi: 10.1055/s-0044-1785442. eCollection 2024 Jan. Glob Med Genet. 2024. PMID: 38533443 Free PMC article. Review.

9

FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6.

Zhang HZ, Li P, Wang D, Huff S, Nimmakayalu M, Qumsiyeh M, Pober BR. Zhang HZ, et al. Am J Med Genet A. 2004 Jan 30;124A(3):280-7. doi: 10.1002/ajmg.a.20413. Am J Med Genet A. 2004. PMID: 14708101 Review.

10

Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss.

Zhao C, Chai H, Zhou Q, Wen J, Reddy UM, Kastury R, Jiang Y, Mak W, Bale AE, Zhang H, Li P. Zhao C, et al. Among authors: zhang h. Genet Med. 2021 Mar;23(3):435-442. doi: 10.1038/s41436-020-01008-6. Epub 2020 Oct 26. Genet Med. 2021. PMID: 33100332 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

119,463 results

Search Page