Fetal Nephrology: A Quaternary Care Center Experience

Authors: Plaud Gonzalez, Auda M., Joseph, Catherine, Stover, Samantha R., Nassr, Ahmed, Koh, Chester J., Angelo, Joseph R., Braun, Michael C.

Source: Kidney360. 4(3):333-340

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100193171460.0x000001&indx=1&recIds=ETOCvdc_100193171460.0x000001

Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios

Authors: Sakyu, Takuya, Stover, Samantha R., Wang, Yue, Ward, Patricia, Gandhi, Manisha, Braun, Michael C., Van den Veyver, Ignatia B., Bi, Weimin

Source: Clinical case reports. 11(2)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100194197184.0x000001&indx=1&recIds=ETOCvdc_100194197184.0x000001

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Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm

Authors: Callaway, Danielle A., Campbell, Ian M., Stover, Samantha R., Hernandez-Garcia, Andres, Jhangiani, Shalini N., Punetha, Jaya, Paine, Ingrid S., Posey, Jennifer E., Muzny, Donna, Lally, Kevin P., Lupski, James R., Shaw, Chad A., Fernandes, Caraciolo J., Scott, Daryl A.

Source: Journal of Pediatric Genetics; December 2018, Vol. 7 Issue: 4 p164-173, 10p