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Author/Creator Stover, Samantha R.

1. 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. Issue 2 (23rd February 2023)

Authors:
Sakyu, Takuya; Stover, Samantha R.; Wang, Yue; Ward, Patricia; Gandhi, Manisha; Braun, Michael C.; Van den Veyver, Ignatia B.; Bi, Weimin
Journal:
Clinical case reports
Issue:
Volume 11:Issue 2(2023)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice. (4th September 2015)

Authors:
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.; Chitty, Lyn S.; Bianchi, Diana W.
Journal:
Prenatal diagnosis
Issue:
Volume 35:Number 10(2015:Oct.)
Page Start:
1022
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗