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164 results on '"Cooper G.M."'

2. Guidelines for investigating causality of sequence variants in human disease

Author

MacArthur, D.G., Manolio, T.A., Dimmock, D.P., Rehm, H.L., Shendure, J., Abecasis, G.R., Adams, D.R., Altman, R.B., Antonarakis, S.E., Ashley, E.A., Barrett, J.C., Biesecker, L.G., Conrad, D.F., Cooper, G.M., Cox, N.J., Daly, M.J., Gerstein, M.B., Goldstein, D.B., Hirschhorn, J.N., Leal, S.M., Pennacchio, L.A., Stamatoyannopoulos, J.A., Sunyaev, S.R., Valle, D., Voight, B.F., Winckler, W., and Gunter, C.

Subjects
Research, Genetic aspects, Disease transmission -- Research -- Genetic aspects, Translation (Genetics) -- Research, Genomics -- Investigations -- Research, Genetic translation -- Research
Abstract

High-throughput sequencing approaches can generate detailed catalogues of genetic variation in both disease patients and the general population. However, for these technologies to have the greatest medical impact we must [...], The discovery of rare genetic variants is accelerating, and clear guidelines for distinguishing disease-causing sequence variants from the many potentially functional variants present in any human genome are urgently needed. Without rigorous standards we risk an acceleration of false-positive reports of causality, which would impede the translation of genomic research findings into the clinical diagnostic setting and hinder biological understanding of disease. Here we discuss the key challenges of assessing sequence variants in human disease, integrating both gene-level and variantlevel support for causality. We propose guidelines for summarizing confidence in variant pathogenicity and highlight several areas that require further resource development.

Published
2014
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9. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Author

Hannes, F.D., Sharp, A.J., Mefford, H.C., de Ravel, T., Ruivenkamp, C.A., Breuning, M.H., Fryns, J.-P., Devriendt, K., Van Buggenhout, G., Vogels, A., Stewart, H., Hennekam, R.C., Cooper, G.M., Regan, R., Knight, S.J.L., Eichler, E.E., and Vermeesch, J.R.

Subjects
Mental retardation -- Genetic aspects, Mental retardation -- Risk factors, Mental retardation -- Research, Birth defects -- Genetic aspects, Birth defects -- Risk factors, Birth defects -- Research, Chromosome deletion -- Research, Health
Published
2009

10. BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

Author

Scott, T.M., Guo, H, Eichler, E.E., Rosenfeld, J.A., Pang, K., Liu, Z, Lalani, S., Bi, W., Yang, Y., Bacino, C.A., Streff, H., Lewis, A.M., Koenig, M.K., Thiffault, I., Bellomo, A., Everman, D.B., Jones, J.R., Stevenson, R.E., Bernier, R., Gilissen, C.F., Pfundt, R.P., Hiatt, S.M., Cooper, G.M., Holder, J.L., Scott, D.A., Scott, T.M., Guo, H, Eichler, E.E., Rosenfeld, J.A., Pang, K., Liu, Z, Lalani, S., Bi, W., Yang, Y., Bacino, C.A., Streff, H., Lewis, A.M., Koenig, M.K., Thiffault, I., Bellomo, A., Everman, D.B., Jones, J.R., Stevenson, R.E., Bernier, R., Gilissen, C.F., Pfundt, R.P., Hiatt, S.M., Cooper, G.M., Holder, J.L., and Scott, D.A.

Abstract

Contains fulltext : 220420.pdf (Publisher’s version ) (Closed access), The bromodomain adjacent to zinc finger 2B gene (BAZ2B) encodes a protein involved in chromatin remodeling. Loss of BAZ2B function has been postulated to cause neurodevelopmental disorders. To determine whether BAZ2B deficiency is likely to contribute to the pathogenesis of these disorders, we performed bioinformatics analyses that demonstrated a high level of functional convergence during fetal cortical development between BAZ2B and genes known to cause autism spectrum disorder (ASD) and neurodevelopmental disorder. We also found an excess of de novo BAZ2B loss-of-function variants in exome sequencing data from previously published cohorts of individuals with neurodevelopmental disorders. We subsequently identified seven additional individuals with heterozygous deletions, stop-gain, or de novo missense variants affecting BAZ2B. All of these individuals have developmental delay (DD), intellectual disability (ID), and/or ASD. Taken together, our findings suggest that haploinsufficiency of BAZ2B causes a neurodevelopmental disorder, whose cardinal features include DD, ID, and ASD.

Published
2020

15. Systematic reanalysis of genomic data improves quality of variant interpretation

Author

Hiatt, S.M., primary, Amaral, M.D., additional, Bowling, K.M., additional, Finnila, C.R., additional, Thompson, M.L., additional, Gray, D.E., additional, Lawlor, J.M.J., additional, Cochran, J.N., additional, Bebin, E.M., additional, Brothers, K.B., additional, East, K.M., additional, Kelley, W.V., additional, Lamb, N.E., additional, Levy, S.E., additional, Lose, E.J., additional, Neu, M.B., additional, Rich, C.A., additional, Simmons, S., additional, Myers, R.M., additional, Barsh, G.S., additional, and Cooper, G.M., additional

Published
2018
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16. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

Author

Cheng, H., Dharmadhikari, A.V., Varland, S., Ma, N., Domingo, D., Kleyner, R., Rope, A.F., Yoon, M., Stray-Pedersen, A., Posey, J.E., Crews, S.R., Eldomery, M.K., Akdemir, Z.C., Lewis, A.M., Sutton, V.R., Rosenfeld, J.A., Conboy, E., Agre, K., Xia, F., Walkiewicz, M., Longoni, M., High, F.A., Slegtenhorst, M.A. van, Mancini, G.M.S., Finnila, C.R., Haeringen, A. van, Hollander, N. den, Ruivenkamp, C., Naidu, S., Mahida, S., Palmer, E.E., Murray, L., Lim, D., Jayakar, P., Parker, M.J., Giusto, S., Stracuzzi, E., Romano, C, Beighley, J.S., Bernier, R.A., Kury, S., Nizon, M., Corbett, M.A., Shaw, M., Gardner, A., Barnett, C., Armstrong, R., Kassahn, K.S., Dijck, A. Van, Vandeweyer, G., Kleefstra, T., Schieving, J.H., Jongmans, M.C., Vries, B.B.A. de, Pfundt, R.P., Kerr, B., Rojas, S.K., Boycott, K.M., Person, R., Willaert, R., Eichler, E.E., Kooy, R.F., Yang, Y., Wu, J.C., Lupski, J.R., Arnesen, T., Cooper, G.M., Chung, W.K., Gecz, J., Stessman, H.A.F., Meng, L., Lyon, G.J., Cheng, H., Dharmadhikari, A.V., Varland, S., Ma, N., Domingo, D., Kleyner, R., Rope, A.F., Yoon, M., Stray-Pedersen, A., Posey, J.E., Crews, S.R., Eldomery, M.K., Akdemir, Z.C., Lewis, A.M., Sutton, V.R., Rosenfeld, J.A., Conboy, E., Agre, K., Xia, F., Walkiewicz, M., Longoni, M., High, F.A., Slegtenhorst, M.A. van, Mancini, G.M.S., Finnila, C.R., Haeringen, A. van, Hollander, N. den, Ruivenkamp, C., Naidu, S., Mahida, S., Palmer, E.E., Murray, L., Lim, D., Jayakar, P., Parker, M.J., Giusto, S., Stracuzzi, E., Romano, C, Beighley, J.S., Bernier, R.A., Kury, S., Nizon, M., Corbett, M.A., Shaw, M., Gardner, A., Barnett, C., Armstrong, R., Kassahn, K.S., Dijck, A. Van, Vandeweyer, G., Kleefstra, T., Schieving, J.H., Jongmans, M.C., Vries, B.B.A. de, Pfundt, R.P., Kerr, B., Rojas, S.K., Boycott, K.M., Person, R., Willaert, R., Eichler, E.E., Kooy, R.F., Yang, Y., Wu, J.C., Lupski, J.R., Arnesen, T., Cooper, G.M., Chung, W.K., Gecz, J., Stessman, H.A.F., Meng, L., and Lyon, G.J.

Abstract

Item does not contain fulltext, N-alpha-acetylation is a common co-translational protein modification that is essential for normal cell function in humans. We previously identified the genetic basis of an X-linked infantile lethal Mendelian disorder involving a c.109T>C (p.Ser37Pro) missense variant in NAA10, which encodes the catalytic subunit of the N-terminal acetyltransferase A (NatA) complex. The auxiliary subunit of the NatA complex, NAA15, is the dimeric binding partner for NAA10. Through a genotype-first approach with whole-exome or genome sequencing (WES/WGS) and targeted sequencing analysis, we identified and phenotypically characterized 38 individuals from 33 unrelated families with 25 different de novo or inherited, dominantly acting likely gene disrupting (LGD) variants in NAA15. Clinical features of affected individuals with LGD variants in NAA15 include variable levels of intellectual disability, delayed speech and motor milestones, and autism spectrum disorder. Additionally, mild craniofacial dysmorphology, congenital cardiac anomalies, and seizures are present in some subjects. RNA analysis in cell lines from two individuals showed degradation of the transcripts with LGD variants, probably as a result of nonsense-mediated decay. Functional assays in yeast confirmed a deleterious effect for two of the LGD variants in NAA15. Further supporting a mechanism of haploinsufficiency, individuals with copy-number variant (CNV) deletions involving NAA15 and surrounding genes can present with mild intellectual disability, mild dysmorphic features, motor delays, and decreased growth. We propose that defects in NatA-mediated N-terminal acetylation (NTA) lead to variable levels of neurodevelopmental disorders in humans, supporting the importance of the NatA complex in normal human development.

Published
2018

18. PLOS Genetics Data Sharing Policy: In Pursuit of Functional Utility

Author

Barsh, G.S., Williams, S.M., Copenhaver, G.P., Gibson, G., McCarthy, M.I., Tang, H., and Cooper, G.M.

Abstract

About a year ago, PLOS implemented a new process intended to further the overarching principle that data used in the work we publish should be accessible and reusable. The motivation goes hand-in-hand with both our open access ethos and the scientific method itself: the validity of a conclusion depends on the ability to reproduce the underlying results.

Published
2015
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20. Somatic activation of ras K gene in a human ovarian carcinoma

Author

Feig, L.A. and Cooper, G.M.

Subjects
Oncology, Experimental -- Physiological aspects, Ovarian cancer -- Physiological aspects -- Research, Monoclonal antibodies -- Research, Cancer -- Research, Science and technology, Physiological aspects, Research
Abstract

Somatic Activation of ras(K) Gene in a Human Ovarian Carcinoma Transfection experiments with DNA have led to the identification of activated cellular transforming gnes in a wide variety of human [...]

Published
1984

21. Recurrent reciprocal genomic Rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

Author

Mefford, H.C., Clauin, S., Sharp, A.J., Møller, R.S., Ullmann, R., Kapur, R., Pinkel, D., Cooper, G.M., Ventura, M., Ropers, H.H., Tommerup, Niels, Eichler, E.E., Bellanne-Chantelot, C., Mefford, H.C., Clauin, S., Sharp, A.J., Møller, R.S., Ullmann, R., Kapur, R., Pinkel, D., Cooper, G.M., Ventura, M., Ropers, H.H., Tommerup, Niels, Eichler, E.E., and Bellanne-Chantelot, C.

Abstract

Udgivelsesdato: 2007/11

Published
2007

23. Epidural Analgesia and Breastfeeding

Author

Wilson, M.J., primary, MacArthur, C., additional, Cooper, G.M., additional, Bick, D., additional, Moore, P.A., additional, Shennan, A., additional, Cooper, G., additional, Lewis, M., additional, May, A., additional, Whyte, J., additional, Wilson, M., additional, Hickman, N., additional, Bharmal, S., additional, Garston, H., additional, Moore, P., additional, Crewe, L., additional, Patterson, M., additional, Squire, P., additional, Gold, L., additional, Elton, C., additional, Lancashire, R., additional, and Hussain, W., additional

Published
2011
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35. Multimegavolt multiaxis high-resolution flash X-ray source development for a new hydrodynamics research facility at AWE Aldermaston

Author

Goldsack, T.J., primary, Bryant, T.F., additional, Beech, P.F., additional, Clough, S.G., additional, Cooper, G.M., additional, Davitt, R., additional, Edwards, R.D., additional, Kenna, N., additional, McLean, J., additional, Pearce, A.G., additional, Phillips, M.J., additional, Pullinger, K.P., additional, Short, D.J., additional, Sinclair, M.A., additional, Thomas, K.J., additional, Threadgold, J.R., additional, Williamson, M.C., additional, and Krushelnick, K., additional

Published
2002
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38. The LANSCE data acquisition system and SMARTS

Author

Nelson, R.O., primary, Bourke, M.A.M., additional, Bowling, P.S., additional, Cooper, G.M., additional, Kozlowski, T., additional, Lara, P.D., additional, Rose, C.R., additional, Ross, J.J., additional, Seal, J.R., additional, and Williams, B.C., additional

Published
2000
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