Search Results - "Scherer, Stephen W."

Genetic architecture in autism spectrum disorder by Devlin, Bernie, Scherer, Stephen W

“…Autism spectrum disorder (ASD) is characterized by impairments in reciprocal social interaction and communication, and by restricted and repetitive behaviors…”
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A copy number variation map of the human genome by Zarrei, Mehdi, MacDonald, Jeffrey R., Merico, Daniele, Scherer, Stephen W.

“…Key Points The copy number variation (CNV) map of the human genome documents the extent and characteristics of CNV among healthy populations. Depending on the…”
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Progress in the genetics of autism spectrum disorder by Woodbury‐Smith, Marc, Scherer, Stephen W

“…A genetic basis for autism spectrum disorder (ASD) is now well established, and with the availability of high‐throughput microarray and sequencing platforms,…”
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The Database of Genomic Variants: a curated collection of structural variation in the human genome by MacDonald, Jeffrey R, Ziman, Robert, Yuen, Ryan K C, Feuk, Lars, Scherer, Stephen W

“…Over the past decade, the Database of Genomic Variants (DGV; http://dgv.tcag.ca/) has provided a publicly accessible, comprehensive curated catalogue of…”
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Phase Separation as a Missing Mechanism for Interpretation of Disease Mutations by Tsang, Brian, Pritišanac, Iva, Scherer, Stephen W., Moses, Alan M., Forman-Kay, Julie D.

“…It is unclear how disease mutations impact intrinsically disordered protein regions (IDRs), which lack a stable folded structure. These mutations, while…”
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What a finding of gene copy number variation can add to the diagnosis of developmental neuropsychiatric disorders by Vorstman, Jacob, Scherer, Stephen W

“…Among medical disciplines, diagnosis in psychiatry depends highly upon descriptive signs and symptoms, rather than biomarkers. Clear descriptions of specific…”
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Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing by Jiang, Yong-hui, Yuen, Ryan K.C., Jin, Xin, Wang, Mingbang, Chen, Nong, Wu, Xueli, Ju, Jia, Mei, Junpu, Shi, Yujian, He, Mingze, Wang, Guangbiao, Liang, Jieqin, Wang, Zhe, Cao, Dandan, Carter, Melissa T., Chrysler, Christina, Drmic, Irene E., Howe, Jennifer L., Lau, Lynette, Marshall, Christian R., Merico, Daniele, Nalpathamkalam, Thomas, Thiruvahindrapuram, Bhooma, Thompson, Ann, Uddin, Mohammed, Walker, Susan, Luo, Jun, Anagnostou, Evdokia, Zwaigenbaum, Lonnie, Ring, Robert H., Wang, Jian, Lajonchere, Clara, Wang, Jun, Shih, Andy, Szatmari, Peter, Yang, Huanming, Dawson, Geraldine, Li, Yingrui, Scherer, Stephen W.

“…Autism Spectrum Disorder (ASD) demonstrates high heritability and familial clustering, yet the genetic causes remain only partially understood as a result of…”
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Single cell-derived clonal analysis of human glioblastoma links functional and genomic heterogeneity by Meyer, Mona, Reimand, Jüri, Lan, Xiaoyang, Head, Renee, Zhu, Xueming, Kushida, Michelle, Bayani, Jane, Pressey, Jessica C., Lionel, Anath C., Clarke, Ian D., Cusimano, Michael, Squire, Jeremy A., Scherer, Stephen W., Bernstein, Mark, Woodin, Melanie A., Bader, Gary D., Dirks, Peter B.

“…Glioblastoma (GBM) is a cancer comprised of morphologically, genetically, and phenotypically diverse cells. However, an understanding of the functional…”
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Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data by Bigham, Abigail, Bauchet, Marc, Pinto, Dalila, Mao, Xianyun, Akey, Joshua M, Mei, Rui, Scherer, Stephen W, Julian, Colleen G, Wilson, Megan J, López Herráez, David, Brutsaert, Tom, Parra, Esteban J, Moore, Lorna G, Shriver, Mark D

“…High-altitude hypoxia (reduced inspired oxygen tension due to decreased barometric pressure) exerts severe physiological stress on the human body. Two…”
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Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling by Richter, Melanie, Murtaza, Nadeem, Scharrenberg, Robin, White, Sean H., Johanns, Ole, Walker, Susan, Yuen, Ryan K. C., Schwanke, Birgit, Bedürftig, Bianca, Henis, Melad, Scharf, Sarah, Kraus, Vanessa, Dörk, Ronja, Hellmann, Jakob, Lindenmaier, Zsuzsa, Ellegood, Jacob, Hartung, Henrike, Kwan, Vickie, Sedlacik, Jan, Fiehler, Jens, Schweizer, Michaela, Lerch, Jason P., Hanganu-Opatz, Ileana L., Morellini, Fabio, Scherer, Stephen W., Singh, Karun K., Calderon de Anda, Froylan

“…Atypical brain connectivity is a major contributor to the pathophysiology of neurodevelopmental disorders (NDDs) including autism spectrum disorders (ASDs)…”
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Copy Number Variations in Schizophrenia: Critical Review and New Perspectives on Concepts of Genetics and Disease by Bassett, Anne S., Scherer, Stephen W., Brzustowicz, Linda M.

“…ObjectiveStructural variations of DNA, such as copy number variations (CNVs), are recognized to contribute both to normal genomic variability and to risk for…”
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Contribution of SHANK3 Mutations to Autism Spectrum Disorder by Moessner, Rainald, Marshall, Christian R., Sutcliffe, James S., Skaug, Jennifer, Pinto, Dalila, Vincent, John, Zwaigenbaum, Lonnie, Fernandez, Bridget, Roberts, Wendy, Szatmari, Peter, Scherer, Stephen W.

“…Mutations in SHANK3, which encodes a synaptic scaffolding protein, have been described in subjects with an autism spectrum disorder (ASD). To assess the…”
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Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease by Wright, Galen E.B., Collins, Jennifer A., Kay, Chris, McDonald, Cassandra, Dolzhenko, Egor, Xia, Qingwen, Bečanović, Kristina, Drögemöller, Britt I., Semaka, Alicia, Nguyen, Charlotte M., Trost, Brett, Richards, Fiona, Bijlsma, Emilia K., Squitieri, Ferdinando, Ross, Colin J.D., Scherer, Stephen W., Eberle, Michael A., Yuen, Ryan K.C., Hayden, Michael R.

“…Huntington disease (HD) is caused by a CAG repeat expansion in the huntingtin (HTT) gene. Although the length of this repeat is inversely correlated with age…”
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ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data by Dolzhenko, Egor, Bennett, Mark F, Richmond, Phillip A, Trost, Brett, Chen, Sai, van Vugt, Joke J F A, Nguyen, Charlotte, Narzisi, Giuseppe, Gainullin, Vladimir G, Gross, Andrew M, Lajoie, Bryan R, Taft, Ryan J, Wasserman, Wyeth W, Scherer, Stephen W, Veldink, Jan H, Bentley, David R, Yuen, Ryan K C, Bahlo, Melanie, Eberle, Michael A

“…Repeat expansions are responsible for over 40 monogenic disorders, and undoubtedly more pathogenic repeat expansions remain to be discovered. Existing methods…”
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Origins and functional impact of copy number variation in the human genome by Scherer, Stephen W, Hurles, Matthew E, Conrad, Donald F, Pinto, Dalila, Redon, Richard, Feuk, Lars, Gokcumen, Omer, Zhang, Yujun, Aerts, Jan, Andrews, T. Daniel, Barnes, Chris, Campbell, Peter, Fitzgerald, Tomas, Hu, Min, Ihm, Chun Hwa, Kristiansson, Kati, MacArthur, Daniel G, MacDonald, Jeffrey R, Onyiah, Ifejinelo, Pang, Andy Wing Chun, Robson, Sam, Stirrups, Kathy, Valsesia, Armand, Walter, Klaudia, Wei, John, Tyler-Smith, Chris, Carter, Nigel P, Lee, Charles

“…Structural variations of DNA greater than 1 kilobase in size account for most bases that vary among human genomes, but are still relatively under-ascertained…”
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Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation by Rappold, Gudrun A, Berkel, Simone, Marshall, Christian R, Weiss, Birgit, Howe, Jennifer, Roeth, Ralph, Moog, Ute, Endris, Volker, Roberts, Wendy, Szatmari, Peter, Pinto, Dalila, Bonin, Michael, Riess, Angelika, Engels, Hartmut, Sprengel, Rolf, Scherer, Stephen W

“…Using microarrays, we identified de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated individuals with autism-spectrum…”
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The clinical context of copy number variation in the human genome by Lee, Charles, Scherer, Stephen W

“…During the past five years, copy number variation (CNV) has emerged as a highly prevalent form of genomic variation, bridging the interval between…”
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Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome by Dhanraj, Santhosh, Matveev, Anna, Li, Hongbing, Lauhasurayotin, Supanun, Jardine, Lawrence, Cada, Michaela, Zlateska, Bozana, Tailor, Chetankumar S., Zhou, Joseph, Mendoza-Londono, Roberto, Vincent, Ajoy, Durie, Peter R., Scherer, Stephen W., Rommens, Johanna M., Heon, Elise, Dror, Yigal

“…Abstract There is an Inside Blood Commentary on this article in this issue…”
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Identification of candidate intergenic risk loci in autism spectrum disorder by Walker, Susan, Scherer, Stephen W

“…Copy number variations (CNVs) and DNA sequence alterations affecting specific neuronal genes are established risk factors for Autism Spectrum Disorder (ASD)…”
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Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder by Vaags, Andrea K., Lionel, Anath C., Sato, Daisuke, Goodenberger, McKinsey, Stein, Quinn P., Curran, Sarah, Ogilvie, Caroline, Ahn, Joo Wook, Drmic, Irene, Senman, Lili, Chrysler, Christina, Thompson, Ann, Russell, Carolyn, Prasad, Aparna, Walker, Susan, Pinto, Dalila, Marshall, Christian R., Stavropoulos, Dimitri J., Zwaigenbaum, Lonnie, Fernandez, Bridget A., Fombonne, Eric, Bolton, Patrick F., Collier, David A., Hodge, Jennelle C., Roberts, Wendy, Szatmari, Peter, Scherer, Stephen W.

“…The three members of the human neurexin gene family, neurexin 1 (NRXN1), neurexin 2 (NRXN2), and neurexin 3 (NRXN3), encode neuronal adhesion proteins that…”
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