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Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication
Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication
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Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication

Dennis, Megan Y. ; Nuttle, Xander ; Sudmant, Peter H. ; Antonacci, Francesca ; Graves, Tina A. ; Nefedov, Mikhail ; Rosenfeld, Jill A. ; Sajjadian, Saba ; Malig, Maika ; Kotkiewicz, Holland ; Curry, Cynthia J. ; Shafer, Susan ; Shaffer, Lisa G. ; de Jong, Pieter J. ; Wilson, Richard K. ; Eichler, Evan E.

Cell, 2012-05, Vol.149 (4), p.912-922 [Periódico revisado por pares]

United States: Elsevier Inc

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2
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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3
A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders
A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders
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A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

Jacquemont, Sébastien ; Coe, Bradley P. ; Hersch, Micha ; Duyzend, Michael H. ; Krumm, Niklas ; Bergmann, Sven ; Beckmann, Jacques S. ; Rosenfeld, Jill A. ; Eichler, Evan E.

American journal of human genetics, 2014-03, Vol.94 (3), p.415-425 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Body Mass Index and Decline of Cognitive Function
Body Mass Index and Decline of Cognitive Function
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Body Mass Index and Decline of Cognitive Function

Kim, Sujin ; Kim, Yongjoo ; Park, Sang Min Rosenfeld, Cheryl S.

PloS one, 2016-02, Vol.11 (2), p.e0148908-e0148908 [Periódico revisado por pares]

United States: Public Library of Science

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5
Detecting Weak Spectral Lines in Interferometric Data through Matched Filtering
Detecting Weak Spectral Lines in Interferometric Data through Matched Filtering
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Detecting Weak Spectral Lines in Interferometric Data through Matched Filtering

Loomis, Ryan A. ; Öberg, Karin I. ; Andrews, Sean M. ; Walsh, Catherine ; Czekala, Ian ; Huang, Jane ; Rosenfeld, Katherine A.

The Astronomical journal, 2018-04, Vol.155 (4), p.182 [Periódico revisado por pares]

Madison: The American Astronomical Society

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6
Males Under-Estimate Academic Performance of Their Female Peers in Undergraduate Biology Classrooms
Males Under-Estimate Academic Performance of Their Female Peers in Undergraduate Biology Classrooms
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Males Under-Estimate Academic Performance of Their Female Peers in Undergraduate Biology Classrooms

Grunspan, Daniel Z ; Eddy, Sarah L ; Brownell, Sara E ; Wiggins, Benjamin L ; Crowe, Alison J ; Goodreau, Steven M Rosenfeld, Cheryl S.

PloS one, 2016-02, Vol.11 (2), p.e0148405-e0148405 [Periódico revisado por pares]

United States: Public Library of Science

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7
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder
USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder
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USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder

Hao, Yi-Heng ; Fountain, Michael D. ; Fon Tacer, Klementina ; Xia, Fan ; Bi, Weimin ; Kang, Sung-Hae L. ; Patel, Ankita ; Rosenfeld, Jill A. ; Le Caignec, Cédric ; Isidor, Bertrand ; Krantz, Ian D. ; Noon, Sarah E. ; Pfotenhauer, Jean P. ; Morgan, Thomas M. ; Moran, Rocio ; Pedersen, Robert C. ; Saenz, Margarita S. ; Schaaf, Christian P. ; Potts, Patrick Ryan

Molecular cell, 2015-09, Vol.59 (6), p.956-969 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Maternal 25(OH)D concentrations ≥40 ng/mL associated with 60% lower preterm birth risk among general obstetrical patients at an urban medical center
Maternal 25(OH)D concentrations ≥40 ng/mL associated with 60% lower preterm birth risk among general obstetrical patients at an urban medical center
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Maternal 25(OH)D concentrations ≥40 ng/mL associated with 60% lower preterm birth risk among general obstetrical patients at an urban medical center

McDonnell, Sharon L ; Baggerly, Keith A ; Baggerly, Carole A ; Aliano, Jennifer L ; French, Christine B ; Baggerly, Leo L ; Ebeling, Myla D ; Rittenberg, Charles S ; Goodier, Christopher G ; Mateus Niño, Julio F ; Wineland, Rebecca J ; Newman, Roger B ; Hollis, Bruce W ; Wagner, Carol L Rosenfeld, Cheryl S.

PloS one, 2017-07, Vol.12 (7), p.e0180483-e0180483 [Periódico revisado por pares]

United States: Public Library of Science

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9
Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
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Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Bernier, Raphael ; Golzio, Christelle ; Xiong, Bo ; Stessman, Holly A. ; Coe, Bradley P. ; Penn, Osnat ; Witherspoon, Kali ; Gerdts, Jennifer ; Baker, Carl ; Vulto-van Silfhout, Anneke T. ; Schuurs-Hoeijmakers, Janneke H. ; Fichera, Marco ; Bosco, Paolo ; Buono, Serafino ; Alberti, Antonino ; Failla, Pinella ; Peeters, Hilde ; Steyaert, Jean ; Vissers, Lisenka E.L.M. ; Francescatto, Ludmila ; Mefford, Heather C. ; Rosenfeld, Jill A. ; Bakken, Trygve ; O’Roak, Brian J. ; Pawlus, Matthew ; Moon, Randall ; Shendure, Jay ; Amaral, David G. ; Lein, Ed ; Rankin, Julia ; Romano, Corrado ; de Vries, Bert B.A. ; Katsanis, Nicholas ; Eichler, Evan E.

Cell, 2014-07, Vol.158 (2), p.263-276 [Periódico revisado por pares]

United States: Elsevier Inc

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10
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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