Anita E. Beck on Muck Rack

Anita E. Beck

As seen in: Frontiers, medRxiv
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Articles

Case Report: An atypical case of ARPKD highlights the utility and challenges of implementing genetic testing in cystic kidney disease

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By Jonathan Marquez, Jonathan Segura Márquez, Lauren Hawkins, Anita E. Beck, Katrina M. Dipple, Ian Glass, Alexandra C. Keefe, Elizabeth Nguyen
| Frontiers
CASE REPORT article Volume 13 - 2025 | https://doi.org/10.3389/fped.2025.1677417 Introduction Autosomal recessive polycystic kidney disease (ARPKD) is a rare condition that arises due to biallelic pathogenic variants in a small subset of genes, the most common of which is PKHD1. PKHD1 encodes the fibrocystin protein that participates in the development of kidney and liver tubular structures.
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Concordance of whole-genome long-read sequencing with standard clinical testing for Prader-Willi and Angelman syndromes

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By Miranda PG Zalusky, Anita E. Beck, Madelyn Gillentine, Jaya Narayanan
| medRxiv
DEM is on a scientific advisory board at ONT and is engaged in a research agreement with them. CRP, MPGZ, and DEM have received travel funds from ONT. DEM holds stock options in MyOme. This work was supported by Seattle Childrens Hospital through an academic enrichment grant to CRP and AEB. Sequencing was subsidized by the Brotman Baty Institute for Precision Medicine. DEM is supported by the National Institutes of Health through the NIH Directors Early Independence Award DP5OD033357.
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Institutional Protocol to Manage Consanguinity Detected by Genetic Testing in Pregnancy in a Minor

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By Laura Chen, Anita E. Beck, Karen D. Tsuchiya, Penny M. Chow, Ghayda M. Mirzaa, Rebecca T. Wiester
| Pediatrics Verified
Single-nucleotide polymorphism arrays and other types of genetic tests have the potential to detect first-degree consanguinity and uncover parental rape in cases of minor teenage pregnancy. We present 2 cases in which genetic testing identified parental rape of a minor teenager. In case 1, single-nucleotide polymorphism array in a patient with multiple developmental abnormalities demonstrated multiple long stretches of homozygosity, revealing parental rape of a teenage mother.
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