Results 171 to 180 of about 103,351 (258)

The utility of whole exome sequencing in diagnosing Wilson disease: A case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24‐h urine copper excretion, with Kayser–Fleischer (KF) rings being a supportive ...
Mihir J. Palan, Dana Simpson, Cheryl Miranda, Melanie Hakar, Henry C. Lin   +4 more
wiley   +1 more source

A single-center study: three years of experience with whole-exome sequencing in diagnosing pediatric hematological disorders. [PDF]

Ital J Pediatr
Salah S, Mobarak A, Alshanbari SN, Bukhari AA, Alsobhi F, Farahat SAA, Masmali HM.   +6 more
europepmc   +1 more source

A preterm neonate with infantile liver failure syndrome 1 due to leucyl‐tRNA synthetase 1 gene (LARS1) mutations with a histopathologic phenotype of neonatal hemochromatosis

JPGN Reports, EarlyView.
Abstract We report a case of a premature, growth‐restricted female infant with feeding intolerance and coagulopathy, treated initially for sepsis, who progressed to neonatal acute liver failure and end‐stage hepatic encephalopathy after a prolonged hospitalization with extensive diagnostic evaluation, and was found by autopsy to have histopathologic ...
Adrienne Bruder, Naomi Laventhal, Raja Rabah, Jacqueline Meadow   +3 more
wiley   +1 more source

Whole-exome sequencing increases variant detection compared to karyotyping and CMA in an unselected FGR cohort. [PDF]

Sci Rep
Liu J, Lin K, Mai Z, Zhang Y, Li X, Meng X, Chen H.   +6 more
europepmc   +1 more source

The genetic landscape of congenital diarrheas and very early onset inflammatory bowel disease in the Middle East

JPGN Reports, EarlyView.
Abstract Objectives Monogenic causes of congenital diarrheas and enteropathies (CoDE) and very early onset inflammatory bowel disease (VEOIBD) are mostly recessive and therefore more prevalent in populations with increased consanguinity rates. To assess the genetic basis of these disorders in a likely high‐prevalence population, we established a multi ...
Lily Gillette, Muna Al Safar, Ganeshwaran H. Mochida, Casey Johnson, Stephen Babcock, Klaus Schmitz‐Abe, Michael Field, Jessica Yang, Richelle Bearup, Ahmed Megahed, Mohammed Ezz El Regal Abbas, Tarek Baraket, Sherine Elziny, Ali Sobh, Gulin Eren, Fawaz AlRefaee, Rana Bitar, Mohamed Miqdady, Pankaj B. Agrawal, Scott B. Snapper, Jay R. Thiagarajah, Jodie Ouahed   +21 more
wiley   +1 more source

Pharmacogenomic Calling From Whole-Exome Sequencing in the Taiwanese Population-A Real-World Experience. [PDF]

Mol Genet Genomic Med
Lin HH, Tsai MM, Chen HA, Hsu RH, Lin YS, Lin YL, Hsu C, Chien YH, Hwu WL, Lee NC.   +9 more
europepmc   +1 more source

Current Evidence for Circulating Tumor DNA in Sarcoma: Challenges and Opportunities for Clinical Application

Journal of Surgical Oncology, EarlyView.
ABSTRACT Sarcomas represent a diverse group of mesenchymal tumors with high rates of recurrence after resection. While recent technical advances have enabled the detection of rare circulating tumor DNA (ctDNA) in other malignancies, the complexity and heterogeneity of sarcoma genomics have historically limited ctDNA in these cancers.
Kristin E. Goodsell, Jason A. Carter, Hannah R. Abrams, Harveshp Mogal, Elizabeth T. Loggers, Jeremy Sharib   +5 more
wiley   +1 more source

Exploration of candidate genes associated with rare SNVs in pulmonary stenosis using whole-exome sequencing and machine learning. [PDF]

Front Genet
Liu Y, Chen S, Liang Y, Huang S, Zhang B, Liu S, Yang L, Zhao L, Xu R, Wu Y.   +9 more
europepmc   +1 more source