Recent advances in prenatal genetic screening and testing

por Van den Veyver, Ignatia B.
Publicado 2016

Counseling Challenges with Variants of Uncertain Significance and Incidental Findings in Prenatal Genetic Screening and Diagnosis

por Westerfield, Lauren, Darilek, Sandra, van den Veyver, Ignatia B.
Publicado 2014

Take your mother’s ferry: preimplantation embryo development requires maternal karyopherins for nuclear transport

por Sharif, Momal, Detti, Laura, Van den Veyver, Ignatia B.
Publicado 2023

Maternally expressed NLRP2 links the subcortical maternal complex (SCMC) to fertility, embryogenesis and epigenetic reprogramming

por Mahadevan, Sangeetha, Sathappan, Varsha, Utama, Budi, Lorenzo, Isabel, Kaskar, Khalied, Van den Veyver, Ignatia B.
Publicado 2017

Independent variant analysis of TEAD1 and OCEL1 in 38 Aicardi syndrome patients

por Wong, Bibiana K. Y., Sutton, Vernon R., Lewis, Richard A., Van den Veyver, Ignatia B.
Publicado 2017

Erratum: Maternally expressed NLRP2 links the subcortical maternal complex (SCMC) to fertility, embryogenesis and epigenetic reprogramming

por Mahadevan, Sangeetha, Sathappan, Varsha, Utama, Budi, Lorenzo, Isabel, Kaskar, Khalied, Van den Veyver, Ignatia B.
Publicado 2017

DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting

por Anvar, Zahra, Chakchouk, Imen, Demond, Hannah, Sharif, Momal, Kelsey, Gavin, Van den Veyver, Ignatia B.
Publicado 2021

Expression profiling of clonal lymphocyte cell cultures from Rett syndrome patients

por Delgado, Ivan J, Kim, Dong Sun, Thatcher, Karen N, LaSalle, Janine M, Van den Veyver, Ignatia B
Publicado 2006

Chronic Maternal Low-Protein Diet in Mice Affects Anxiety, Night-Time Energy Expenditure and Sleep Patterns, but Not Circadian Rhythm in Male Offspring

por Crossland, Randy F., Balasa, Alfred, Ramakrishnan, Rajesh, Mahadevan, Sangeetha K., Fiorotto, Marta L., Van den Veyver, Ignatia B.
Publicado 2017

Correction: Chronic Maternal Low-Protein Diet in Mice Affects Anxiety, Night-Time Energy Expenditure and Sleep Patterns, but Not Circadian Rhythm in Male Offspring

por Crossland, Randy F., Balasa, Alfred, Ramakrishnan, Rajesh, Mahadevan, Sangeetha K., Fiorotto, Marta L., Van den Veyver, Ignatia B.
Publicado 2018

Deletion of Porcn in Mice Leads to Multiple Developmental Defects and Models Human Focal Dermal Hypoplasia (Goltz Syndrome)

por Liu, Wei, Shaver, Timothy M., Balasa, Alfred, Ljungberg, M. Cecilia, Wang, Xiaoling, Wen, Shu, Nguyen, Hoang, Van den Veyver, Ignatia B.
Publicado 2012

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 k...

por Sakyu, Takuya, Stover, Samantha R., Wang, Yue, Ward, Patricia, Gandhi, Manisha, Braun, Michael C., Van den Veyver, Ignatia B., Bi, Weimin
Publicado 2023

Maternal stress in Shank3(ex4-9) mice increases pup-directed care and alters brain white matter in male offspring

por Wong, Bibiana K. Y., Murry, Jaclyn B., Ramakrishnan, Rajesh, He, Fang, Balasa, Alfred, Stinnett, Gary R., Pedersen, Steen E., Pautler, Robia G., Van den Veyver, Ignatia B.
Publicado 2019

A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia

por Madan, Simran, Liu, Wei, Lu, James T., Sutton, V. Reid, Toth, Bryant, Joe, Priscilla, Waterson, John R., Gibbs, Richard A., Van den Veyver, Ignatia B., Lammer, Edward J., Campeau, Philippe M., Lee, Brendan H.
Publicado 2017

Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis

por Vossaert, Liesbeth, Wang, Qun, Salman, Roseen, McCombs, Anne K., Patel, Vipulkumar, Qu, Chunjing, Mancini, Michael A., Edwards, Dean P., Malovannaya, Anna, Liu, Pengfei, Shaw, Chad A., Levy, Brynn, Wapner, Ronald J., Bi, Weimin, Breman, Amy M., Van den Veyver, Ignatia B., Beaudet, Arthur L.
Publicado 2019

Evidence for feasibility of fetal trophoblastic cell‐based noninvasive prenatal testing

por Breman, Amy M., Chow, Jennifer C., U'Ren, Lance, Normand, Elizabeth A., Qdaisat, Sadeem, Zhao, Li, Henke, David M., Chen, Rui, Shaw, Chad A., Jackson, Laird, Yang, Yaping, Vossaert, Liesbeth, Needham, Rachel H. V., Chang, Elizabeth J., Campton, Daniel, Werbin, Jeffrey L., Seubert, Ron C., Van den Veyver, Ignatia B., Stilwell, Jackie L., Kaldjian, Eric P., Beaudet, Arthur L.
Publicado 2016

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

por 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, Walkiewicz, Magdalena, Van den Veyver, Ignatia B., Eng, Christine M., Yang, Yaping
Publicado 2018

Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome

por Jolly, Angad, Du, Haowei, Borel, Christelle, Chen, Na, Zhao, Sen, Grochowski, Christopher M., Duan, Ruizhi, Fatih, Jawid M., Dawood, Moez, Salvi, Sejal, Jhangiani, Shalini N., Muzny, Donna M., Koch, André, Rouskas, Konstantinos, Glentis, Stavros, Deligeoroglou, Efthymios, Bacopoulou, Flora, Wise, Carol A., Dietrich, Jennifer E., Van den Veyver, Ignatia B., Dimas, Antigone S., Brucker, Sara, Sutton, V. Reid, Gibbs, Richard A., Antonarakis, Stylianos E., Wu, Nan, Coban-Akdemir, Zeynep H., Zhu, Lan, Posey, Jennifer E., Lupski, James R.
Publicado 2023

Mendelian gene identification through mouse embryo viability screening

por Cacheiro, Pilar, Westerberg, Carl Henrik, Mager, Jesse, Dickinson, Mary E., Nutter, Lauryl M. J., Muñoz-Fuentes, Violeta, Hsu, Chih-Wei, Van den Veyver, Ignatia B., Flenniken, Ann M., McKerlie, Colin, Murray, Stephen A., Teboul, Lydia, Heaney, Jason D., Lloyd, K. C. Kent, Lanoue, Louise, Braun, Robert E., White, Jacqueline K., Creighton, Amie K., Laurin, Valerie, Guo, Ruolin, Qu, Dawei, Wells, Sara, Cleak, James, Bunton-Stasyshyn, Rosie, Stewart, Michelle, Harrisson, Jackie, Mason, Jeremy, Haseli Mashhadi, Hamed, Parkinson, Helen, Mallon, Ann-Marie, Smedley, Damian
Publicado 2022