DPH1

Publications

Alazami AM et al. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep. 2015; 10(2), 148-161. PMID: 25558065.

Chen CM et al. Ovca1 regulates cell proliferation, embryonic development, and tumorigenesis. Genes Dev. 2004;18(3), 320-332. PMID: 14744934.

Cheng SSW et al. An adult Chinese patient with developmental delay with short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome). Am J Med Genet A. 2021;185(6), 1925-1931. PMID: 33704902.

Collier RJ. Understanding the mode of action of diphtheria toxin: a perspective on progress during the 20th century. Toxicon. 2001; 39(11). PMID: 11595641.

Hao C et al. Exome sequencing as the first-tier test for pediatric respiratory diseases: A single-center study. Hum Mutat. 2021; 42(7), 891-900. PMID: 33942430.

Jensen MR et al. OVCA1: emerging as a bona fide tumor suppressor. Genes Dev. 2004; 18(3), 245-248. PMID: 14871925.

Lefebvre M et al. Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations. J Med Genet. 2021; 58(6):400-413. PMID: 32732226.

Liu M et al. Diphthamide Biosynthesis 1 is a Novel Oncogene in Colorectal Cancer Cells and is Regulated by MiR-218-5p. Cell Physiol Biochem. 2017; 44(2), 505-514. PMID: 29145210.

Monies D et al. Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population. Am J Hum Genet. 2019;105(4), 879. PMID: 31130284.

Nakajima J et al. Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities. J Hum Genet. 2018; 63(4), 529-532. PMID: 29362492.

Powis Z et al. Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis. Genet Med. 2018; 20(11), 1468-1471. PMID: 29565416.

Riazuddin S et al. Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. Mol Psychiatry. 2017; 22(11):1604-1614. PMID: 27457812.

Sekiguchi F et al. A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features. J Hum Genet. 2018;63(4), 487-491. PMID: 29410513.

Shamseldin HE et al. Lethal variants in humans: lessons learned from a large molecular autopsy cohort. Genome Med. 2021; 13(1), 161. PMID: 34645488.

Urreizti R et al. DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. Eur J Hum Genet. 2020; 28(1), 64-75. PMID: 30877278.