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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.
Published in:
2023
By:
- Sakyu, Takuya;
- Stover, Samantha R.;
- Wang, Yue;
- Ward, Patricia;
- Gandhi, Manisha;
- Braun, Michael C.;
- Van den Veyver, Ignatia B.;
- Bi, Weimin
Publication type:
Case Study
Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.
Published in:
Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1686, doi. 10.1002/pd.6269
By:
- Brar, Bobby K.;
- Thompson, Marisa Gilstrop;
- Vora, Neeta L.;
- Gilmore, Kelly;
- Blakemore, Karin;
- Miller, Kristen A.;
- Giordano, Jessica;
- Dufke, Andreas;
- Wong, Beatrix;
- Stover, Samantha;
- Lianoglou, Billie;
- Van den Veyver, Ignatia;
- Dempsey, Esther;
- Rosner, Mara;
- Chong, Karen;
- Chitayat, David;
- Sparks, Teresa N.;
- Norton, Mary E.;
- Wapner, Ronald;
- Baranano, Kristin
Publication type:
Article
Information is power: The experiences, attitudes and needs of individuals who chose to have prenatal genomic sequencing for fetal anomalies.
Published in:
Prenatal Diagnosis, 2022, v. 42, n. 7, p. 947, doi. 10.1002/pd.6153
By:
- Kernie, Catherine G.;
- Wynn, Julia;
- Rosenbaum, Allison;
- de Voest, Jessica;
- Galloway, Stephanie;
- Giordano, Jessica;
- Stover, Samantha;
- Westerfield, Lauren;
- Gilmore, Kelly;
- Wapner, Ronald J.;
- Van den Veyver, Ignatia B.;
- Vora, Neeta L.;
- Clifton, Rebecca G.;
- Caughey, Aaron B.;
- Chung, Wendy K.
Publication type:
Article
Omphalocele—What should we tell the prospective parents?
Published in:
Prenatal Diagnosis, 2021, v. 41, n. 4, p. 486, doi. 10.1002/pd.5886
By:
- Adams, April D.;
- Stover, Samantha;
- Rac, Martha W.
Publication type:
Article
Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice.
Published in:
2015
By:
- 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.
Publication type:
journal article
Using MRI-derived observed-to-expected total fetal lung volume to predict lethality in fetal skeletal dysplasia.
Published in:
Pediatric Radiology, 2024, v. 54, n. 1, p. 43, doi. 10.1007/s00247-023-05825-0
By:
- Mehollin-Ray, Amy R.;
- Stover, Samantha;
- Cassady, Christopher I.;
- Zhang, Bin;
- Calvo-Garcia, Maria;
- Kline-Fath, Beth
Publication type:
Article
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
Published in:
Genome Medicine, 2018, v. 10, n. 1, p. 1, doi. 10.1186/s13073-018-0582-x
By:
- Normand, Elizabeth A.;
- Braxton, Alicia;
- Nassef, Salma;
- Ward, Patricia A.;
- Vetrini, Francesco;
- He, Weimin;
- Patel, Vipulkumar;
- Qu, Chunjing;
- Westerfield, Lauren E.;
- Stover, Samantha;
- Dharmadhikari, Avinash V.;
- Muzny, Donna M.;
- Gibbs, Richard A.;
- Dai, Hongzheng;
- Meng, Linyan;
- Wang, Xia;
- Xiao, Rui;
- Liu, Pengfei;
- Bi, Weimin;
- Xia, Fan
Publication type:
Article

Found: 7

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.

Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.

Information is power: The experiences, attitudes and needs of individuals who chose to have prenatal genomic sequencing for fetal anomalies.

Omphalocele—What should we tell the prospective parents?

Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice.

Using MRI-derived observed-to-expected total fetal lung volume to predict lethality in fetal skeletal dysplasia.

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.