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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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2
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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3
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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4
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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5
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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6
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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7
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially
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Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

Luo, Xi ; Rosenfeld, Jill A ; Yamamoto, Shinya ; Harel, Tamar ; Zuo, Zhongyuan ; Hall, Melissa ; Wierenga, Klaas J ; Pastore, Matthew T ; Bartholomew, Dennis ; Delgado, Mauricio R ; Rotenberg, Joshua ; Lewis, Richard Alan ; Emrick, Lisa ; Bacino, Carlos A ; Eldomery, Mohammad K ; Coban Akdemir, Zeynep ; Xia, Fan ; Yang, Yaping ; Lalani, Seema R ; Lotze, Timothy ; Lupski, James R ; Lee, Brendan ; Bellen, Hugo J ; Wangler, Michael F Lu, Bingwei

PLoS genetics, 2017-07, Vol.13 (7), p.e1006905 [Periódico revisado por pares]

United States: Public Library of Science

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8
Prevalence of disorders recorded in dogs attending primary-care veterinary practices in England
Prevalence of disorders recorded in dogs attending primary-care veterinary practices in England
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Prevalence of disorders recorded in dogs attending primary-care veterinary practices in England

O Neill, Dan G ; Church, David B ; McGreevy, Paul D ; Thomson, Peter C ; Brodbelt, Dave C Rosenfeld, Cheryl S.

PloS one, 2014-03, Vol.9 (3), p.e90501-e90501 [Periódico revisado por pares]

United States: Public Library of Science

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9
Physical Activity, Sedentary Behavior, Cardiorespiratory Fitness and Metabolic Syndrome in Adolescents: Systematic Review and Meta-Analysis of Observational Evidence
Physical Activity, Sedentary Behavior, Cardiorespiratory Fitness and Metabolic Syndrome in Adolescents: Systematic Review and Meta-Analysis of Observational Evidence
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Physical Activity, Sedentary Behavior, Cardiorespiratory Fitness and Metabolic Syndrome in Adolescents: Systematic Review and Meta-Analysis of Observational Evidence

Oliveira, Raphael Gonçalves de ; Guedes, Dartagnan Pinto Rosenfeld, Cheryl S.

PloS one, 2016-12, Vol.11 (12), p.e0168503-e0168503 [Periódico revisado por pares]

United States: Public Library of Science

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10
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome
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Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

Poli, M. Cecilia ; Ebstein, Frédéric ; Nicholas, Sarah K. ; de Guzman, Marietta M. ; Forbes, Lisa R. ; Chinn, Ivan K. ; Mace, Emily M. ; Vogel, Tiphanie P. ; Carisey, Alexandre F. ; Benavides, Felipe ; Coban-Akdemir, Zeynep H. ; Gibbs, Richard A. ; Jhangiani, Shalini N. ; Muzny, Donna M. ; Carvalho, Claudia M.B. ; Schady, Deborah A. ; Jain, Mahim ; Rosenfeld, Jill A. ; Emrick, Lisa ; Lewis, Richard A. ; Lee, Brendan ; Zieba, Barbara A. ; Küry, Sébastien ; Krüger, Elke ; Lupski, James R. ; Bostwick, Bret L. ; Orange, Jordan S.

American journal of human genetics, 2018-06, Vol.102 (6), p.1126-1142 [Periódico revisado por pares]

United States: Elsevier Inc

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