Search Results - "Turner, Tychele N."

Acorn: an R package for de novo variant analysis by Turner, Tychele N

“…The study of de novo variation is important for assessing biological characteristics of new variation and for studies related to human phenotypes. Software…”
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The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders by Turner, Tychele N., Eichler, Evan E.

“…Advances in sequencing technology have significantly expanded our understanding of the genetics of autism and neurodevelopmental disorders (NDDs). Continued…”
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Excess of rare, inherited truncating mutations in autism by Krumm, Niklas, Turner, Tychele N, Baker, Carl, Vives, Laura, Mohajeri, Kiana, Witherspoon, Kali, Raja, Archana, Coe, Bradley P, Stessman, Holly A, He, Zong-Xiao, Leal, Suzanne M, Bernier, Raphael, Eichler, Evan E

“…Evan Eichler and colleagues analyze the relative impact of de novo and rare, inherited variants on autism risk. They show a statistically independent role for…”
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Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA by Turner, Tychele N., Hormozdiari, Fereydoun, Duyzend, Michael H., McClymont, Sarah A., Hook, Paul W., Iossifov, Ivan, Raja, Archana, Baker, Carl, Hoekzema, Kendra, Stessman, Holly A., Zody, Michael C., Nelson, Bradley J., Huddleston, John, Sandstrom, Richard, Smith, Joshua D., Hanna, David, Swanson, James M., Faustman, Elaine M., Bamshad, Michael J., Stamatoyannopoulos, John, Nickerson, Deborah A., McCallion, Andrew S., Darnell, Robert, Eichler, Evan E.

“…We performed whole-genome sequencing (WGS) of 208 genomes from 53 families affected by simplex autism. For the majority of these families, no copy-number…”
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Genomic Patterns of De Novo Mutation in Simplex Autism by Turner, Tychele N., Coe, Bradley P., Dickel, Diane E., Hoekzema, Kendra, Nelson, Bradley J., Zody, Michael C., Kronenberg, Zev N., Hormozdiari, Fereydoun, Raja, Archana, Pennacchio, Len A., Darnell, Robert B., Eichler, Evan E.

“…To further our understanding of the genetic etiology of autism, we generated and analyzed genome sequence data from 516 idiopathic autism families (2,064…”
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Molecular Genetic Anatomy and Risk Profile of Hirschsprung’s Disease by Tilghman, Joseph M, Ling, Albee Y, Turner, Tychele N, Sosa, Maria X, Krumm, Niklas, Chatterjee, Sumantra, Kapoor, Ashish, Coe, Bradley P, Nguyen, Khanh-Dung H, Gupta, Namrata, Gabriel, Stacey, Eichler, Evan E, Berrios, Courtney, Chakravarti, Aravinda

“…Understanding the nature of the genetic risk of complex diseases is becoming easier, thanks to advances in genomic analyses. This study implicates three types…”
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Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders by Turner, Tychele N., Wilfert, Amy B., Bakken, Trygve E., Bernier, Raphael A., Pepper, Micah R., Zhang, Zhancheng, Torene, Rebecca I., Retterer, Kyle, Eichler, Evan E.

“…While genes with an excess of de novo mutations (DNMs) have been identified in children with neurodevelopmental disorders (NDDs), few studies focus on DNM…”
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De novo genic mutations among a Chinese autism spectrum disorder cohort by Wang, Tianyun, Guo, Hui, Xiong, Bo, Stessman, Holly A.F., Wu, Huidan, Coe, Bradley P., Turner, Tychele N., Liu, Yanling, Zhao, Wenjing, Hoekzema, Kendra, Vives, Laura, Xia, Lu, Tang, Meina, Ou, Jianjun, Chen, Biyuan, Shen, Yidong, Xun, Guanglei, Long, Min, Lin, Janice, Kronenberg, Zev N., Peng, Yu, Bai, Ting, Li, Honghui, Ke, Xiaoyan, Hu, Zhengmao, Zhao, Jingping, Zou, Xiaobing, Xia, Kun, Eichler, Evan E.

“…Recurrent de novo (DN) and likely gene-disruptive (LGD) mutations contribute significantly to autism spectrum disorders (ASDs) but have been primarily…”
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Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications by Wilfert, Amy B, Sulovari, Arvis, Turner, Tychele N, Coe, Bradley P, Eichler, Evan E

“…Next-generation sequencing (NGS) is now more accessible to clinicians and researchers. As a result, our understanding of the genetics of neurodevelopmental…”
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Thousands of high-quality sequencing samples fail to show meaningful correlation between 5S and 45S ribosomal DNA arrays in humans by Hall, Ashley N., Turner, Tychele N., Queitsch, Christine

“…The ribosomal RNA genes (rDNA) are tandemly arrayed in most eukaryotes and exhibit vast copy number variation. There is growing interest in integrating this…”
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Can the “female protective effect” liability threshold model explain sex differences in autism spectrum disorder? by Dougherty, Joseph D., Marrus, Natasha, Maloney, Susan E., Yip, Benjamin, Sandin, Sven, Turner, Tychele N., Selmanovic, Din, Kroll, Kristen L., Gutmann, David H., Constantino, John N., Weiss, Lauren A.

“…Male sex is a strong risk factor for autism spectrum disorder (ASD). The leading theory for a “female protective effect” (FPE) envisions males and females have…”
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Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns by Turner, Tychele N, Douville, Christopher, Kim, Dewey, Stenson, Peter D, Cooper, David N, Chakravarti, Aravinda, Karchin, Rachel

“…The role of rare missense variants in disease causation remains difficult to interpret. We explore whether the clustering pattern of rare missense variants…”
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Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7 by Meganathan, Kesavan, Prakasam, Ramachandran, Baldridge, Dustin, Gontarz, Paul, Zhang, Bo, Urano, Fumihiko, Bonni, Azad, Maloney, Susan E, Turner, Tychele N, Huettner, James E, Constantino, John N, Kroll, Kristen L

“…Copy number variants (CNVs) linked to genes involved in nervous system development or function are often associated with neuropsychiatric disease. While CNVs…”
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Clinical phenotype of ASD-associated DYRK1A haploinsufficiency by Earl, Rachel K, Turner, Tychele N, Mefford, Heather C, Hudac, Caitlin M, Gerdts, Jennifer, Eichler, Evan E, Bernier, Raphael A

“…is a gene recurrently disrupted in 0.1-0.5% of the ASD population. A growing number of case reports with haploinsufficiency exhibit common phenotypic features…”
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Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism by Padhi, Evin M, Hayeck, Tristan J, Cheng, Zhang, Chatterjee, Sumantra, Mannion, Brandon J, Byrska-Bishop, Marta, Willems, Marjolaine, Pinson, Lucile, Redon, Sylvia, Benech, Caroline, Uguen, Kevin, Audebert-Bellanger, Séverine, Le Marechal, Cédric, Férec, Claude, Efthymiou, Stephanie, Rahman, Fatima, Maqbool, Shazia, Maroofian, Reza, Houlden, Henry, Musunuri, Rajeeva, Narzisi, Giuseppe, Abhyankar, Avinash, Hunter, Riana D, Akiyama, Jennifer, Fries, Lauren E, Ng, Jeffrey K, Mehinovic, Elvisa, Stong, Nick, Allen, Andrew S, Dickel, Diane E, Bernier, Raphael A, Gorkin, David U, Pennacchio, Len A, Zody, Michael C, Turner, Tychele N

“…Previous research in autism and other neurodevelopmental disorders (NDDs) has indicated an important contribution of protein-coding (coding) de novo variants…”
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Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk by Marrus, Natasha, Turner, Tychele N, Forsen, Elizabeth, Bolster, Drew, Marvin, Alison, Whitehouse, Andrew, Klinger, Laura, Gurnett, Christina A, Constantino, J N

“…Although autism spectrum disorders (ASD) are among the most heritable of all neuropsychiatric syndromes, most affected children are born to unaffected parents…”
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Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome by Tayebi, Naeimeh, Leon‐Ricardo, Brian, McCall, Kevin, Mehinovic, Elvisa, Engelstad, Kristin, Huynh, Vincent, Turner, Tychele N., Weisenberg, Judy, Thio, Liu L., Hruz, Paul, Williams, Robin S. B., De Vivo, Darryl C., Petit, Vincent, Haller, Gabe, Gurnett, Christina A.

“…Objective The goal of this study is to demonstrate the utility of a growth assay to quantify the functional impact of single nucleotide variants (SNVs) in…”
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From karyotypes to precision genomics in 9p deletion and duplication syndromes by Sams, Eleanor I., Ng, Jeffrey K., Tate, Victoria, Claire Hou, Ying-Chen, Cao, Yang, Antonacci-Fulton, Lucinda, Belhassan, Khadija, Neidich, Julie, Mitra, Robi D., Cole, F. Sessions, Dickson, Patricia, Milbrandt, Jeffrey, Turner, Tychele N.

“…While 9p deletion and duplication syndromes have been studied for several years, small sample sizes and minimal high-resolution data have limited a…”
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Large-Scale Population-Based Assessment of Psychiatric Comorbidities in Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder by Turner, Tychele N.

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Revealing rate-limiting steps in complex disease biology: The crucial importance of studying rare, extreme-phenotype families by Chakravarti, Aravinda, Turner, Tychele N.

“…The major challenge in complex disease genetics is to understand the fundamental features of this complexity and why functional alterations at multiple…”
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