Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO
Scott, Daryl A, Hernandez-Garcia, Andres, Azamian, Mahshid S, Jordan, Valerie K, Kim, Bum Jun, Starkovich, Molly, Zhang, Jinglan, Wong, Lee-Jun, Darilek, Sandra A, Breman, Amy M, Yang, Yaping, Lupski, James R, Jiwani, Amyn K, Das, Bibhuti, Lalani, Seema R, Iglesias, Alejandro D, Rosenfeld, Jill A, Xia, Fan
Published in Journal of medical genetics (01.01.2017)
Published in Journal of medical genetics (01.01.2017)
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Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
Dungan, Jeffrey S., Klugman, Susan, Darilek, Sandra, Malinowski, Jennifer, Akkari, Yassmine M.N., Monaghan, Kristin G., Erwin, Angelika, Best, Robert G.
Published in Genetics in medicine (01.02.2023)
Published in Genetics in medicine (01.02.2023)
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INFLUENCING FACTORS AND PATIENT DECISIONS REGARDING MOSAIC AND ANEUPLOID EMBRYO TRANSFER
Neal, Shelby, Gregory, Erin Peckham, Moon, Andrea, Scollon, Sarah, Witz, Craig, Darilek, Sandra A.
Published in Fertility and sterility (01.10.2023)
Published in Fertility and sterility (01.10.2023)
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267: Pregnancy outcome following transfer of an aneuploid embryo
Darilek, Sandra, Nassef, Salma, Huguenard, Sarah
Published in American journal of obstetrics and gynecology (01.01.2018)
Published in American journal of obstetrics and gynecology (01.01.2018)
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Journal Article
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
Dungan, Jeffrey S., Klugman, Susan, Darilek, Sandra, Malinowski, Jennifer, Akkari, Yassmine M.N., Monaghan, Kristin G., Erwin, Angelika, Best, Robert G.
Published in Genetics in medicine (01.08.2023)
Published in Genetics in medicine (01.08.2023)
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Genetic counseling for men with recurrent pregnancy loss or recurrent implantation failure due to abnormal sperm chromosomal aneuploidy
Kohn, Taylor P., Kohn, Jaden R., Darilek, Sandra, Ramasamy, Ranjith, Lipshultz, Larry
Published in Journal of Assisted Reproduction and Genetics (01.05.2016)
Published in Journal of Assisted Reproduction and Genetics (01.05.2016)
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Book Review
Genesurance Counseling: Patient Perspectives
Wagner, Chelsea, Murphy, Lauren, Harkenrider, Jacqueline, Darilek, Sandra, Soto-Torres, Eleazar, Stein, Quinn, Hoskovec, Jennifer
Published in Journal of genetic counseling (01.08.2018)
Published in Journal of genetic counseling (01.08.2018)
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The ethics of conducting molecular autopsies in cases of sudden death in the young
McGuire, Amy L, Moore, Quianta, Majumder, Mary, Walkiewicz, Magdalena, Eng, Christine M, Belmont, John W, Nassef, Salma, Darilek, Sandra, Rutherford, Katie, Pereira, Stacey, Scherer, Steven E, Sutton, V Reid, Wolf, Dwayne, Gibbs, Richard A, Kahn, Roger, Sanchez, Luis A
Published in Genome research (01.09.2016)
Published in Genome research (01.09.2016)
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Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases
Van den Veyver, Ignatia B., Patel, Ankita, Shaw, Chad A., Pursley, Amber N., Kang, Sung-Hae L., Simovich, Marcia J., Ward, Patricia A., Darilek, Sandra, Johnson, Anthony, Neill, Sarah E., Bi, Weimin, White, Lisa D., Eng, Christine M., Lupski, James R., Cheung, Sau Wai, Beaudet, Arthur L.
Published in Prenatal diagnosis (01.01.2009)
Published in Prenatal diagnosis (01.01.2009)
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Conference Proceeding
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum
Alkhunaizi, Ebba, Shuster, Shirley, Shannon, Patrick, Siu, Victoria Mok, Darilek, Sandra, Mohila, Carrie A, Boissel, Sarah, Ellezam, Benjamin, Fallet‐Bianco, Catherine, Laberge, Anne‐Marie, Zandberg, Julianne, Injeyan, Marie, Hazrati, Lili‐Naz, Hamdan, Fadi, Chitayat, David
Published in American journal of medical genetics. Part A (01.03.2019)
Published in American journal of medical genetics. Part A (01.03.2019)
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Phenotypic expansion in DDX3X – a common cause of intellectual disability in females
Wang, Xia, Posey, Jennifer E., Rosenfeld, Jill A., Bacino, Carlos A., Scaglia, Fernando, Immken, LaDonna, Harris, Jill M., Hickey, Scott E., Mosher, Theresa M., Slavotinek, Anne, Zhang, Jing, Beuten, Joke, Leduc, Magalie S., He, Weimin, Vetrini, Francesco, Walkiewicz, Magdalena A., Bi, Weimin, Xiao, Rui, Liu, Pengfei, Shao, Yunru, Gezdirici, Alper, Gulec, Elif Y., Jiang, Yunyun, Darilek, Sandra A., Hansen, Adam W., Khayat, Michael M., Pehlivan, Davut, Piard, Juliette, Muzny, Donna M., Hanchard, Neil, Belmont, John W., Van Maldergem, Lionel, Gibbs, Richard A., Eldomery, Mohammad K., Akdemir, Zeynep C., Adesina, Adekunle M., Chen, Shan, Lee, Yi‐Chien, Lee, Brendan, Lupski, James R., Eng, Christine M., Xia, Fan, Yang, Yaping, Graham, Brett H., Moretti, Paolo
Published in Annals of clinical and translational neurology (01.10.2018)
Published in Annals of clinical and translational neurology (01.10.2018)
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Offering Prenatal Screening in the Age of Genomic Medicine: A Practical Guide
Allyse, Megan, Aypar, Umut, Bonhomme, Natasha, Darilek, Sandra, Dougherty, Michael, Farrell, Ruth, Grody, Wayne, Highsmith, W Edward, Michie, Marsha, Nunes, Mark, Otto, Laura, Pabst, Rebecca, Palomaki, Glenn, Runke, Cassandra, Sharp, Richard R, Skotko, Brian, Stoll, Katie, Wick, Myra
Published in Journal of women's health (Larchmont, N.Y. 2002) (01.07.2017)
Published in Journal of women's health (Larchmont, N.Y. 2002) (01.07.2017)
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