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
Sakyu, Takuya, Stover, Samantha R., Wang, Yue, Ward, Patricia, Gandhi, Manisha, Braun, Michael C., Van den Veyver, Ignatia B., Bi, Weimin
Published in Clinical case reports (01.02.2023)
Published in Clinical case reports (01.02.2023)
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Journal Article
Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice
Westerfield, Lauren E., Stover, Samantha R., Mathur, Veena S., Nassef, Salma A., Carter, Tiffiney G., Yang, Yaping, Eng, Christine M., Van den Veyver, Ignatia B.
Published in Prenatal diagnosis (01.10.2015)
Published in Prenatal diagnosis (01.10.2015)
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Journal Article
Fetal Nephrology: A Quaternary Care Center Experience
Plaud Gonzalez, Auda M, Joseph, Catherine, Stover, Samantha R, Nassr, Ahmed, Koh, Chester J, Angelo, Joseph R, Braun, Michael C
Published in Kidney360 (01.03.2023)
Published in Kidney360 (01.03.2023)
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Journal Article
Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm
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.
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.12.2018)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.12.2018)
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