Výsledky vyhledávání - "Runjun D. Kumar"

Akademický článek

A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing

Autor: Runjun D. Kumar, Lindsay C. Burrage, Jan Bartos, Saima Ali, Eric Schmitt, Sandesh C.S. Nagamani, Cynthia LeMons

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100706- (2021)

Pathogenic variants in non-coding regions of genes encoding enzymes or transporters of the urea cycle can lead to urea cycle disorders (UCDs). However, not all commercially available testing platforms interrogate these regions. Here, we used a gene p

Externí odkaz: https://doaj.org/article/b0d253dea5db4d75ab6cef3563b339b2

Zobrazit plný text záznamu

Akademický článek

A TMPRSS2‐ERG gene signature predicts prognosis of patients with prostate adenocarcinoma

Autor: Emily Zhou, Baoyi Zhang, Kenneth Zhu, Evelien Schaafsma, Runjun D. Kumar, Chao Cheng

Publikováno v: Clinical and Translational Medicine, Vol 10, Iss 8, Pp n/a-n/a (2020)

Externí odkaz: https://doaj.org/article/1fa73fd513514ebb8db86b2aeefbc7dd

Zobrazit plný text záznamu

Akademický článek

Analysis of somatic mutations across the kinome reveals loss-of-function mutations in multiple cancer types

Autor: Runjun D. Kumar, Ron Bose

Publikováno v: Scientific Reports, Vol 7, Iss 1, Pp 1-12 (2017)

Abstract In this study we use somatic cancer mutations to identify important functional residues within sets of related genes. We focus on protein kinases, a superfamily of phosphotransferases that share homologous sequences and structural motifs and

Externí odkaz: https://doaj.org/article/2c968a60686444bfb6cc99fa031b2e91

Zobrazit plný text záznamu

Plný text ve formátu HTML

Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis

Autor: Runjun D. Kumar, Linyan Meng, Pengfei Liu, Christina Y. Miyake, Kim C. Worley, Weimin Bi, Seema R. Lalani

Publikováno v: Am J Med Genet A

BACKGROUND: Stroke causes significant disability and is a common cause of death worldwide. Previous studies have estimated that 1-5% of stroke is attributable to monogenic etiologies. We set out to assess the utility of clinical exome sequencing (ES)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb6664afc8b8e250d1f0dd1ec220ebc2
https://doi.org/10.1002/ajmg.a.62967

Zobrazit plný text záznamu

Clinical genome sequencing: three years’ experience at a tertiary children’s hospital

Autor: Runjun D. Kumar, Lisa F. Saba, Haley Streff, Dolores Lopez-Terrada, Jennifer Scull

IntroductionGenome sequencing (GS) may shorten the diagnostic odyssey for patients, but clinical experience with this assay in non-research settings remains limited. Texas Children’s Hospital began offering GS as a clinical test to admitted patient

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9a96e764a1762b97ed16652edeb43148
https://doi.org/10.1101/2023.02.10.23285786

Zobrazit plný text záznamu

Selection for or against escape from nonsense mediated decay is a novel signature for the detection of cancer genes

Autor: Chad A. Shaw, Pamela N. Luna, Paul J. Vandeventer, Runjun D. Kumar, Briana A. Burns

Publikováno v: Cancer Genetics. :80-84

Escape from nonsense mediated decay (NMD-) can produce activated or inactivated gene products, and bias in rates of escape can identify functionally important genes in germline disease. We hypothesized that the same would be true of cancer genes, and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3326461e9a4dd8e9d0dfdfb3396d59a
https://doi.org/10.1016/j.cancergen.2021.09.003

Zobrazit plný text záznamu

Clinical exome sequencing for stroke evaluation uncovers a high frequency of Mendelian disorders: a retrospective analysis

Autor: Runjun D. Kumar, Linyan Meng, Pengfei Liu, Christina Y. Miyake, Kim C. Worley, Weimin Bi, Seema R. Lalani

BackgroundStroke causes significant disability and is a common cause of death worldwide. Previous studies have estimated that 1-5% of stroke is attributable to monogenic etiologies. We set out to assess the utility of clinical exome sequencing (ES) i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d06f85f3391a182afc72198c74374ba1
https://doi.org/10.1101/2022.06.10.22276114

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání