Search Results - "Marshall, CR"

Whole-genome sequencing of quartet families with autism spectrum disorder by Yuen, Ryan K C, Thiruvahindrapuram, Bhooma, Merico, Daniele, Walker, Susan, Tammimies, Kristiina, Hoang, Ny, Chrysler, Christina, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Liu, Yi, Gazzellone, Matthew J, D'Abate, Lia, Deneault, Eric, Howe, Jennifer L, Liu, Richard S C, Thompson, Ann, Zarrei, Mehdi, Uddin, Mohammed, Marshall, Christian R, Ring, Robert H, Zwaigenbaum, Lonnie, Ray, Peter N, Weksberg, Rosanna, Carter, Melissa T, Fernandez, Bridget A, Roberts, Wendy, Szatmari, Peter, Scherer, Stephen W

“…Whole-genome sequencing of 85 families with two affected siblings reveals considerable genetic heterogeneity in autism spectrum disorder. Autism spectrum…”
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Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder by Tammimies, Kristiina, Marshall, Christian R, Walker, Susan, Kaur, Gaganjot, Thiruvahindrapuram, Bhooma, Lionel, Anath C, Yuen, Ryan K. C, Uddin, Mohammed, Roberts, Wendy, Weksberg, Rosanna, Woodbury-Smith, Marc, Zwaigenbaum, Lonnie, Anagnostou, Evdokia, Wang, Zhuozhi, Wei, John, Howe, Jennifer L, Gazzellone, Matthew J, Lau, Lynette, Sung, Wilson W. L, Whitten, Kathy, Vardy, Cathy, Crosbie, Victoria, Tsang, Brian, D’Abate, Lia, Tong, Winnie W. L, Luscombe, Sandra, Doyle, Tyna, Carter, Melissa T, Szatmari, Peter, Stuckless, Susan, Merico, Daniele, Stavropoulos, Dimitri J, Scherer, Stephen W, Fernandez, Bridget A

“…IMPORTANCE: The use of genome-wide tests to provide molecular diagnosis for individuals with autism spectrum disorder (ASD) requires more study. OBJECTIVE: To…”
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Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder by Uddin, Mohammed, Tammimies, Kristiina, Pellecchia, Giovanna, Alipanahi, Babak, Hu, Pingzhao, Wang, Zhuozhi, Pinto, Dalila, Lau, Lynette, Nalpathamkalam, Thomas, Marshall, Christian R, Blencowe, Benjamin J, Frey, Brendan J, Merico, Daniele, Yuen, Ryan K C, Scherer, Stephen W

“…Stephen Scherer and colleagues report an inverse relationship between exon transcription levels in the developing brain and the burden of rare missense…”
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Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy by Nimmo, Graeme A M, Venkatesh, Sundararajan, Pandey, Ashutosh K, Marshall, Christian R, Hazrati, Lili-Naz, Blaser, Susan, Ahmed, Sohnee, Cameron, Jessie, Singh, Kamalendra, Ray, Peter N, Suzuki, Carolyn K, Yoon, Grace

“…Abstract LonP1 is crucial for maintaining mitochondrial proteostasis and mitigating cell stress. We identified a novel homozygous missense LONP1 variant,…”
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Structural variants: changing the landscape of chromosomes and design of disease studies by Feuk, Lars, Marshall, Christian R., Wintle, Richard F., Scherer, Stephen W.

“…The near completeness of human chromosome sequences is facilitating accurate characterization and assessment of all classes of genomic variation. Particularly,…”
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Genome-wide characteristics of de novo mutations in autism by Yuen, Ryan KC, Merico, Daniele, Cao, Hongzhi, Pellecchia, Giovanna, Alipanahi, Babak, Thiruvahindrapuram, Bhooma, Tong, Xin, Sun, Yuhui, Cao, Dandan, Zhang, Tao, Wu, Xueli, Jin, Xin, Zhou, Ze, Liu, Xiaomin, Nalpathamkalam, Thomas, Walker, Susan, Howe, Jennifer L, Wang, Zhuozhi, MacDonald, Jeffrey R, Chan, Ada JS, D’Abate, Lia, Deneault, Eric, Siu, Michelle T, Tammimies, Kristiina, Uddin, Mohammed, Zarrei, Mehdi, Wang, Mingbang, Li, Yingrui, Wang, Jun, Wang, Jian, Yang, Huanming, Bookman, Matt, Bingham, Jonathan, Gross, Samuel S, Loy, Dion, Pletcher, Mathew, Marshall, Christian R, Anagnostou, Evdokia, Zwaigenbaum, Lonnie, Weksberg, Rosanna, Fernandez, Bridget A, Roberts, Wendy, Szatmari, Peter, Glazer, David, Frey, Brendan J, Ring, Robert H, Xu, Xun, Scherer, Stephen W

“…De novo mutations (DNMs) are important in autism spectrum disorder (ASD), but so far analyses have mainly been on the ~1.5% of the genome encoding genes. Here,…”
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Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay by Uddin, Mohammed, Pellecchia, Giovanna, Thiruvahindrapuram, Bhooma, D’Abate, Lia, Merico, Daniele, Chan, Ada, Zarrei, Mehdi, Tammimies, Kristiina, Walker, Susan, Gazzellone, Matthew J., Nalpathamkalam, Thomas, Yuen, Ryan K. C., Devriendt, Koenraad, Mathonnet, Géraldine, Lemyre, Emmanuelle, Nizard, Sonia, Shago, Mary, Joseph-George, Ann M., Noor, Abdul, Carter, Melissa T., Yoon, Grace, Kannu, Peter, Tihy, Frédérique, Thorland, Erik C., Marshall, Christian R., Buchanan, Janet A., Speevak, Marsha, Stavropoulos, Dimitri J., Scherer, Stephen W.

“…A challenge in clinical genomics is to predict whether copy number variation (CNV) affecting a gene or multiple genes will manifest as disease. Increasing…”
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Implication of LRRC4C and DPP6 in neurodevelopmental disorders by Maussion, Gilles, Cruceanu, Cristiana, Rosenfeld, Jill A., Bell, Scott C., Jollant, Fabrice, Szatkiewicz, Jin, Collins, Ryan L., Hanscom, Carrie, Kolobova, Ilaria, de Champfleur, Nicolas Menjot, Blumenthal, Ian, Chiang, Colby, Ota, Vanessa, Hultman, Christina, O'Dushlaine, Colm, McCarroll, Steve, Alda, Martin, Jacquemont, Sebastien, Ordulu, Zehra, Marshall, Christian R., Carter, Melissa T., Shaffer, Lisa G., Sklar, Pamela, Girirajan, Santhosh, Morton, Cynthia C., Gusella, James F., Turecki, Gustavo, Stavropoulos, Dimitri J., Sullivan, Patrick F., Scherer, Stephen W., Talkowski, Michael E., Ernst, Carl

“…We performed whole‐genome sequencing on an individual from a family with variable psychiatric phenotypes that had a sensory processing disorder, apraxia, and…”
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Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy by Peña‐Padilla, C., Marshall, C.R., Walker, S., Scherer, S.W., Tavares‐Macías, G., Razo‐Jiménez, G., Bobadilla‐Morales, L., Acosta‐Fernández, E., Corona‐Rivera, A., Mendoza‐Londono, R., Corona‐Rivera, J. R.

“…〈 We report on an infant with Opitz trigonocephaly C syndrome (OTCS), who also had manifestations of ciliopathy, including short ribs (non‐asphyxiating),…”
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Confidence intervals on stratigraphic ranges with nonrandom distributions of fossil horizons by Marshall, Charles R.

“…A generalized method for calculating confidence intervals on the position of the true end point of a stratigraphic range when the distributions of fossil…”
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Using the fossil record to estimate the age of the last common ancestor of extant primates by Tavaré, Simon, Marshall, Charles R, Will, Oliver, Soligo, Christophe, Martin, Robert D

“…Divergence times estimated from molecular data often considerably predate the earliest known fossil representatives of the groups studied. For the order…”
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Effects of Sampling Standardization on Estimates of Phanerozoic Marine Diversification by Alroy, J., Marshall, C. R., Bambach, R. K., Bezusko, K., Foote, M., Fürsich, F. T., Hansen, T. A., Holland, S. M., Ivany, L. C., Jablonski, D., Jacobs, D. K., Jones, D. C., Kosnik, M. A., Lidgard, S., Low, S., Miller, A. I., Novack-Gottshall, P. M., Olszewski, T. D., Patzkowsky, M. E., Raup, D. M., Roy, K., Sepkoski, J. J., Sommers, M. G., Wagner, P. J., Webber, A.

“…Global diversity curves reflect more than just the number of taxa that have existed through time: they also mirror variation in the nature of the fossil record…”
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Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder by Carter, MT, Nikkel, SM, Fernandez, BA, Marshall, CR, Noor, A, Lionel, AC, Prasad, A, Pinto, D, Joseph-George, AM, Noakes, C, Fairbrother-Davies, C, Roberts, W, Vincent, J, Weksberg, R, Scherer, SW

“…Carter MT, Nikkel SM, Fernandez BA, Marshall CR, Noor A, Lionel AC, Prasad A, Pinto D, Joseph‐George AM, Noakes C, Fairbrother‐Davies C, Roberts W, Vincent J,…”
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Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes by Woodbury-Smith, Marc, Paterson, Andrew D., Thiruvahindrapduram, Bhooma, Lionel, Anath C., Marshall, Christian R., Merico, Daniele, Fernandez, Bridget A., Duku, Eric, Sutcliffe, James S., O’Conner, Irene, Chrysler, Christina, Thompson, Ann, Kellam, Barbara, Tammimies, Kristiina, Walker, Susan, Yuen, Ryan K. C., Uddin, Mohammed, Howe, Jennifer L., Parlier, Morgan, Whitten, Kathy, Szatmari, Peter, Vieland, Veronica J., Piven, Joseph, Scherer, Stephen W.

“…Copy number variation has emerged as an important cause of phenotypic variation, particularly in relation to some complex disorders. Autism spectrum disorder…”
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In vivo cranial suture function and suture morphology in the extant fish Polypterus: implications for inferring skull function in living and fossil fish by Markey, Molly J, Main, Russell P, Marshall, Charles R

“…This study describes the mechanical role that cranial sutures play in fish during feeding. The long-term goal of our work is to establish relationships between…”
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Visualizing the fluid flow through the complex skeletonized respiratory structures of a blastoid echinoderm by Huynh, TL, Evangelista, D, Marshall, CR

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Phanerozoic Marine Biodiversity Dynamics in Light of the Incompleteness of the Fossil Record by Lu, Peter J., Yogo, Motohiro, Marshall, Charles R.

“…Long-term evolutionary dynamics have been approached through quantitative analysis of the fossil record, but without explicitly taking its incompleteness into…”
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Determinants of Incentive Intensity in Group-Based Rewards by Zenger, Todd R., Marshall, C. R.

“…The incentive intensity of rewards (the individual marginal gains in pay triggered by increased performance) has been linked to higher effort and the…”
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Removing bias from diversity curves: the effects of spatially organized biodiversity on sampling-standardization by Bush, Andrew M, Markey, Molly J, Marshall, Charles R

“…The study of ancient biodiversity trends is confounded by biases of the paleontologic record, but standardizing sampling intensity among time intervals can…”
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Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan by Rafiq, MA, Ansar, M, Marshall, CR, Noor, A, Shaheen, N, Mowjoodi, A, Khan, MA, Ali, G, Amin-ud-Din, M, Feuk, L, Vincent, JB, Scherer, SW

“…Rafiq MA, Ansar M, Marshall CR, Noor A, Shaheen N, Mowjoodi A, Khan MA, Ali G, Amin‐ud‐Din M, Feuk L, Vincent JB, Scherer SW. Mapping of three novel loci for…”
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