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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
The impact of read length on quantification of differentially expressed genes and splice junction detection
The impact of read length on quantification of differentially expressed genes and splice junction detection
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The impact of read length on quantification of differentially expressed genes and splice junction detection

Chhangawala, Sagar ; Rudy, Gabe ; Mason, Christopher E ; Rosenfeld, Jeffrey A

Genome Biology, 2015-06, Vol.16 (1), p.131-131, Article 131 [Periódico revisado por pares]

England: BioMed Central

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5
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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6
Combinatorial patterns of histone acetylations and methylations in the human genome
Combinatorial patterns of histone acetylations and methylations in the human genome
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Combinatorial patterns of histone acetylations and methylations in the human genome

Zhao, Keji ; Wang, Zhibin ; Zang, Chongzhi ; Rosenfeld, Jeffrey A ; Schones, Dustin E ; Barski, Artem ; Cuddapah, Suresh ; Cui, Kairong ; Roh, Tae-Young ; Peng, Weiqun ; Zhang, Michael Q

Nature genetics, 2008-07, Vol.40 (7), p.897-903 [Periódico revisado por pares]

London: Nature Publishing Group

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7
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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8
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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9
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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10
A copy number variation morbidity map of developmental delay
A copy number variation morbidity map of developmental delay
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A copy number variation morbidity map of developmental delay

Hamid, Rizwan ; Baker, Carl ; McCracken, Elizabeth ; Stalker, Heather ; Eichler, Evan E ; Hummel, Marybeth ; Ballif, Blake C ; Coe, Bradley P ; Bader, Patricia ; Girirajan, Santhosh ; Kussmann, Jennifer ; Rosenfeld, Jill A ; Cooper, Gregory M ; Shashi, Vandana ; Abdel-Hamid, Hoda ; Williams, Charles ; Leppig, Kathleen ; Alexander, Nora ; Gorski, Jerome ; Niyazov, Dmitriy ; Hannig, Vickie ; Rehder, Catherine ; Shaffer, Lisa G ; Johnson, Krys ; Thiese, Heidi ; Vu, Tiffany H

Nature genetics, 2011-09, Vol.43 (9), p.838-846 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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