Search Results - "Fedick, Anastasia"

Development and validation of concurrent preimplantation genetic diagnosis for single gene disorders and comprehensive chromosomal aneuploidy screening without whole genome amplification by Zimmerman, Rebekah S., Ph.D., F.A.C.M.G, Jalas, Chaim, Tao, Xin, M.S, Fedick, Anastasia M., Ph.D, Kim, Julia G., M.D, Pepe, Russell J., B.S, Northrop, Lesley E., Ph.D, Scott, Richard T., M.D., H.C.L.D, Treff, Nathan R., Ph.D

“…Objective To develop a novel and robust protocol for multifactorial preimplantation genetic testing of trophectoderm biopsies using quantitative polymerase…”
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Evaluation of targeted next-generation sequencing–based preimplantation genetic diagnosis of monogenic disease by Treff, Nathan R., Ph.D, Fedick, Anastasia, B.S, Tao, Xin, M.S, Devkota, Batsal, Ph.D, Taylor, Deanne, Ph.D, Scott, Richard T., M.D

“…Objective To investigate the applicability of next-generation sequencing (NGS) to preimplantation genetic diagnosis (PGD); to evaluate semiconductor-based NGS…”
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Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy by Edvardson, Simon, Yi, Jae Kyo, Jalas, Chaim, Xu, Ruijuan, Webb, Bryn D, Snider, Justin, Fedick, Anastasia, Kleinman, Elisheva, Treff, Nathan R, Mao, Cungui, Elpeleg, Orly

“…Leukodystrophies due to abnormal production of myelin cause extensive morbidity in early life; their genetic background is still largely unknown. We aimed at…”
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A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects by Zhang, Jinglan, Lachance, Véronik, Schaffner, Adam, Li, Xianting, Fedick, Anastasia, Kaye, Lauren E, Liao, Jun, Rosenfeld, Jill, Yachelevich, Naomi, Chu, Mary-Lynn, Mitchell, Wendy G, Boles, Richard G, Moran, Ellen, Tokita, Mari, Gorman, Elizabeth, Bagley, Kaytee, Zhang, Wei, Xia, Fan, Leduc, Magalie, Yang, Yaping, Eng, Christine, Wong, Lee-Jun, Schiffmann, Raphael, Diaz, George A, Kornreich, Ruth, Thummel, Ryan, Wasserstein, Melissa, Yue, Zhenyu, Edelmann, Lisa

“…Genetic leukoencephalopathies (gLEs) are a group of heterogeneous disorders with white matter abnormalities affecting the central nervous system (CNS). The…”
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Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis by Edvardson, Simon, Ashikov, Angel, Jalas, Chaim, Sturiale, Luisa, Shaag, Avraham, Fedick, Anastasia, Treff, Nathan R, Garozzo, Domenico, Gerardy-Schahn, Rita, Elpeleg, Orly

“…The heritability of autism spectrum disorder is currently estimated at 55%. Identification of the molecular basis of patients with syndromic autism extends our…”
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Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene by Edvardson, Simon, Kose, Shingo, Jalas, Chaim, Fattal-Valevski, Aviva, Watanabe, Ai, Ogawa, Yutaka, Mamada, Hiroshi, Fedick, Anastasia M, Ben-Shachar, Shay, Treff, Nathan R, Shaag, Avraham, Bale, Sherri, Gärtner, Jutta, Imamoto, Naoko, Elpeleg, Orly

“…Leukodystrophies are genetic white matter disorders affecting the formation or maintenance of myelin. Among the recently discovered genetic defects associated…”
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High-throughput carrier screening using TaqMan allelic discrimination by Fedick, Anastasia, Su, Jing, Jalas, Chaim, Northrop, Lesley, Devkota, Batsal, Ekstein, Josef, Treff, Nathan R

“…Members of the Ashkenazi Jewish community are at an increased risk for inheritance of numerous genetic diseases such that carrier screening is medically…”
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Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population by Fedick, Anastasia M, Jalas, Chaim, Swaroop, Ananya, Smouha, Eric E, Webb, Bryn D

“…Mutations in the OTOF gene have previously been shown to cause nonsyndromic prelingual deafness (DFNB9, OMIM 601071) as well as auditory…”
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Lack of association of KATNAL1 gene sequence variants and azoospermia in humans by Fedick, Anastasia M., Eckert, Kyle, Thompson, Katharine, Forman, Eric J., Devkota, Batsal, Treff, Nathan R., Taylor, Deanne, Scott, Richard T.

“…Purpose A recent experiment indicated that a loss of function mutation in the murine Katnal1 gene resulted in male factor infertility due to premature…”
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Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population by Fedick, Anastasia M., Jalas, Chaim, Treff, Nathan R., Knowles, Michael R., Zariwala, Maimoona A.

“…Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal recessive disorder that results from functional and ultrastructural abnormalities of…”
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High-throughput real-time PCR-based genotyping without DNA purification by Fedick, Anastasia, Su, Jing, Jalas, Chaim, Treff, Nathan R

“…While improvements in genotyping technology have allowed for increased throughput and reduced time and expense, protocols remain hindered by the slow upstream…”
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Identification and characterization of Aurora kinase B and C variants associated with maternal aneuploidy by Nguyen, Alexandra L, Marin, Diego, Zhou, Anbo, Gentilello, Amanda S, Smoak, Evan M, Cao, Zubing, Fedick, Anastasia, Wang, Yujue, Taylor, Deanne, Scott, Jr, Richard T, Xing, Jinchuan, Treff, Nathan, Schindler, Karen

“…Are single nucleotide variants (SNVs) in Aurora kinases B and C (AURKB, AURKC) associated with risk of aneuploid conception? Two SNVs were found in patients…”
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Analytical Validation of a Personalized Medicine APOL1 Genotyping Assay for Nondiabetic Chronic Kidney Disease Risk Assessment by Zhang, Jinglan, Fedick, Anastasia, Wasserman, Stephanie, Zhao, Geping, Edelmann, Lisa, Bottinger, Erwin P, Kornreich, Ruth, Scott, Stuart A

“…The incidence of chronic kidney disease (CKD) varies by ancestry, with African Americans (AA) having a threefold to fourfold higher rate than whites. Notably,…”
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Development of TaqMan allelic discrimination based genotyping of large DNA deletions by Fedick, Anastasia, Su, Jing, Treff, Nathan R.

“…The high prevalence of genetic diseases resulting from gross deletions has highlighted a need for a quick, simple, and reliable method of genotyping these…”
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Higher Than Expected Carrier Frequency Of The Dyskeratosis Congenita RTEL1 p.Arg1264His recessive Founder In Individuals Of Ashkenazi Jewish Ancestry by Jalas, Chaim, Fedick, Anastasia, Ballew, Bari J, Alter, Blanche P, Giri, Neelam, Boulton, Simon, Offit, Kenneth, Petrini, John, Treff, Nathan, Savage, Sharon A

“…Dyskeratosis congenita (DC) is a heterogeneous inherited bone marrow failure syndrome (IBMFS) in which germline mutations in telomere biology genes account for…”
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High-Throughput Carrier Screening Using TaqMan Allelic Discrimination. e59722 by Fedick, Anastasia, Su, Jing, Jalas, Chaim, Northrop, Lesley, Devkota, Batsal, Ekstein, Josef, Treff, Nathan R

“…Members of the Ashkenazi Jewish community are at an increased risk for inheritance of numerous genetic diseases such that carrier screening is medically…”
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