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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

Posey, Jennifer E ; Harel, Tamar ; Liu, Pengfei ; Rosenfeld, Jill A ; James, Regis A ; Coban Akdemir, Zeynep H ; Walkiewicz, Magdalena ; Bi, Weimin ; Xiao, Rui ; Ding, Yan ; Xia, Fan ; Beaudet, Arthur L ; Muzny, Donna M ; Gibbs, Richard A ; Boerwinkle, Eric ; Eng, Christine M ; Sutton, V. Reid ; Shaw, Chad A ; Plon, Sharon E ; Yang, Yaping ; Lupski, James R

The New England journal of medicine, 2017-01, Vol.376 (1), p.21-31 [Periódico revisado por pares]

United States: Massachusetts Medical Society

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2
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing
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Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing

Murdock, David R ; Dai, Hongzheng ; Burrage, Lindsay C ; Rosenfeld, Jill A ; Ketkar, Shamika ; Müller, Michaela F ; Yépez, Vicente A ; Gagneur, Julien ; Liu, Pengfei ; Chen, Shan ; Jain, Mahim ; Zapata, Gladys ; Bacino, Carlos A ; Chao, Hsiao-Tuan ; Moretti, Paolo ; Craigen, William J ; Hanchard, Neil A ; Lee, Brendan

The Journal of clinical investigation, 2021-01, Vol.131 (1), p.1-13 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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3
Total variation superiorization schemes in proton computed tomography image reconstruction
Total variation superiorization schemes in proton computed tomography image reconstruction
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Total variation superiorization schemes in proton computed tomography image reconstruction

Penfold, S. N. ; Schulte, R. W. ; Censor, Y. ; Rosenfeld, A. B.

Medical physics (Lancaster), 2010-11, Vol.37 (11), p.5887-5895 [Periódico revisado por pares]

United States: American Association of Physicists in Medicine

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4
Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample
Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample
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Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

Talkowski, Michael E ; Ordulu, Zehra ; Pillalamarri, Vamsee ; Benson, Carol B ; Blumenthal, Ian ; Connolly, Susan ; Hanscom, Carrie ; Hussain, Naveed ; Pereira, Shahrin ; Picker, Jonathan ; Rosenfeld, Jill A ; Shaffer, Lisa G ; Wilkins-Haug, Louise E ; Gusella, James F ; Morton, Cynthia C

The New England journal of medicine, 2012-12, Vol.367 (23), p.2226-2232 [Periódico revisado por pares]

Waltham, MA: Massachusetts Medical Society

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5
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders
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Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders

Nguyen, Lam S ; Kim, Hyung-Goo ; Rosenfeld, Jill A ; Shen, Yiping ; Gusella, James F ; Lacassie, Yves ; Layman, Lawrence C ; Shaffer, Lisa G ; Gécz, Jozef

Human molecular genetics, 2013-05, Vol.22 (9), p.1816-1825 [Periódico revisado por pares]

England

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6
Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound
Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound
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Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound

Shaffer, Lisa G. ; Rosenfeld, Jill A. ; Dabell, Mindy P. ; Coppinger, Justine ; Bandholz, Anne M. ; Ellison, Jay W. ; Ravnan, J. Britt ; Torchia, Beth S. ; Ballif, Blake C. ; Fisher, Allan J.

Prenatal diagnosis, 2012-10, Vol.32 (10), p.986-995 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

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7
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development
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A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

Bashamboo, Anu ; Donohoue, Patricia A ; Vilain, Eric ; Rojo, Sandra ; Calvel, Pierre ; Seneviratne, Sumudu N ; Buonocore, Federica ; Barseghyan, Hayk ; Bingham, Nathan ; Rosenfeld, Jill A ; Mulukutla, Surya Narayan ; Jain, Mahim ; Burrage, Lindsay ; Dhar, Shweta ; Balasubramanyam, Ashok ; Lee, Brendan ; Dumargne, Marie-Charlotte ; Eozenou, Caroline ; Suntharalingham, Jenifer P ; de Silva, Ksh ; Lin, Lin ; Bignon-Topalovic, Joelle ; Poulat, Francis ; Lagos, Carlos F ; McElreavey, Ken ; Achermann, John C

Human molecular genetics, 2016-08, Vol.25 (16), p.3446-3453 [Periódico revisado por pares]

England: Oxford University Press

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8
Small beams, fast predictions: a comparison of machine learning dose prediction models for proton minibeam therapy
Small beams, fast predictions: a comparison of machine learning dose prediction models for proton minibeam therapy
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Small beams, fast predictions: a comparison of machine learning dose prediction models for proton minibeam therapy

Mentzel, F. ; Kröninger, K. ; Lerch, M. ; Nackenhorst, O. ; Rosenfeld, A. ; Tsoi, A. C. ; Weingarten, J. ; Hagenbuchner, M. ; Guatelli, S.

Medical physics (Lancaster), 2022-12, Vol.49 (12), p.7791-7801 [Periódico revisado por pares]

United States

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9
Genomic and immunologic correlates of LAG-3 expression in cancer
Genomic and immunologic correlates of LAG-3 expression in cancer
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Genomic and immunologic correlates of LAG-3 expression in cancer

Panda, Anshuman ; Rosenfeld, Jeffrey A ; Singer, Eric A ; Bhanot, Gyan ; Ganesan, Shridar

Oncoimmunology, 2020-01, Vol.9 (1), p.1756116-1756116 [Periódico revisado por pares]

United States: Taylor & Francis

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10
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications
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The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications

Gillentine, M. A. ; Berry, L. N. ; Goin-Kochel, R. P. ; Ali, M. A. ; Ge, J. ; Guffey, D. ; Rosenfeld, J. A. ; Hannig, V. ; Bader, P. ; Proud, M. ; Shinawi, M. ; Graham, B. H. ; Lin, A. ; Lalani, S. R. ; Reynolds, J. ; Chen, M. ; Grebe, T. ; Minard, C. G. ; Stankiewicz, P. ; Beaudet, A. L. ; Schaaf, C. P.

Journal of autism and developmental disorders, 2017-03, Vol.47 (3), p.549-562 [Periódico revisado por pares]

New York: Springer US

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