Ji W - Search Results

1

Ring chromosome formation by intra-strand repairing of subtelomeric double stand breaks and clinico-cytogenomic correlations for ring chromosome 9.

Chai H, Ji W, Wen J, DiAdamo A, Grommisch B, Hu Q, Szekely AM, Li P. Chai H, et al. Among authors: ji w. Am J Med Genet A. 2020 Dec;182(12):3023-3028. doi: 10.1002/ajmg.a.61890. Epub 2020 Sep 26. Am J Med Genet A. 2020. PMID: 32978894

2

A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.

Jeffries L, Shima H, Ji W, Panisello-Manterola D, McGrath J, Bird LM, Konstantino M, Narumi S, Lakhani S. Jeffries L, et al. Among authors: ji w. Am J Med Genet A. 2018 Feb;176(2):415-420. doi: 10.1002/ajmg.a.38557. Epub 2017 Dec 21. Am J Med Genet A. 2018. PMID: 29266745

3

Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.

Jeffries L, Olivieri JE, Ji W, Spencer-Manzon M, Bale A, Konstantino M, Lakhani SA. Jeffries L, et al. Among authors: ji w. Eur J Med Genet. 2019 Sep;62(9):103551. doi: 10.1016/j.ejmg.2018.10.003. Epub 2018 Oct 6. Eur J Med Genet. 2019. PMID: 30300710

4

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.

Sega AG, Mis EK, Lindstrom K, Mercimek-Andrews S, Ji W, Cho MT, Juusola J, Konstantino M, Jeffries L, Khokha MK, Lakhani SA. Sega AG, et al. Among authors: ji w. J Med Genet. 2019 Feb;56(2):113-122. doi: 10.1136/jmedgenet-2018-105322. Epub 2018 Oct 15. J Med Genet. 2019. PMID: 30323019

5

Amabile S, Jeffries L, McGrath JM, Ji W, Spencer-Manzon M, Zhang H, Lakhani SA. Amabile S, et al. Among authors: ji w. 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

6

The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence.

Mis EK, Al-Ali S, Ji W, Spencer-Manzon M, Konstantino M, Khokha MK, Jeffries L, Lakhani SA. Mis EK, et al. Among authors: ji w. Am J Med Genet A. 2020 Oct;182(10):2291-2296. doi: 10.1002/ajmg.a.61783. Epub 2020 Aug 19. Am J Med Genet A. 2020. PMID: 32812332

7

Expansion of NEUROD2 phenotypes to include developmental delay without seizures.

Mis EK, Sega AG, Signer RH, Cartwright T, Ji W, Martinez-Agosto JA, Nelson SF, Palmer CGS, Lee H, Mitzelfelt T, Konstantino M; Undiagnosed Diseases Network; Jeffries L, Khokha MK, Marco E, Martin MG, Lakhani SA. Mis EK, et al. Among authors: ji w. Am J Med Genet A. 2021 Apr;185(4):1076-1080. doi: 10.1002/ajmg.a.62064. Epub 2021 Jan 13. Am J Med Genet A. 2021. PMID: 33438828 Free PMC article.

8

[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: ji w. 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.

9

Correlating genomic copy number alterations with clinicopathologic findings in 75 cases of hepatocellular carcinoma.

Peng G, Chai H, Ji W, Lu Y, Wu S, Zhao H, Li P, Hu Q. Peng G, et al. Among authors: ji w. BMC Med Genomics. 2021 Jun 8;14(1):150. doi: 10.1186/s12920-021-00998-9. BMC Med Genomics. 2021. PMID: 34103027 Free PMC article.

10

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: ji w. 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.

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