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Genetic linkage analysis in the age of whole-genome sequencing
Genetic linkage analysis in the age of whole-genome sequencing
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Genetic linkage analysis in the age of whole-genome sequencing

Ott, Jurg ; Wang, Jing ; Leal, Suzanne M

Nature reviews. Genetics, 2015-05, Vol.16 (5), p.275-284 [Periódico revisado por pares]

England: Nature Publishing Group

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2
PTEN, more than the AKT pathway
PTEN, more than the AKT pathway
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PTEN, more than the AKT pathway

Blanco-Aparicio, Carmen ; Renner, Oliver ; Leal, Juan F.M. ; Carnero, Amancio

Carcinogenesis (New York), 2007-07, Vol.28 (7), p.1379-1386 [Periódico revisado por pares]

Oxford: Oxford University Press

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3
Excess of rare, inherited truncating mutations in autism
Excess of rare, inherited truncating mutations in autism
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Excess of rare, inherited truncating mutations in autism

Krumm, Niklas ; Turner, Tychele N ; Baker, Carl ; Vives, Laura ; Mohajeri, Kiana ; Witherspoon, Kali ; Raja, Archana ; Coe, Bradley P ; Stessman, Holly A ; He, Zong-Xiao ; Leal, Suzanne M ; Bernier, Raphael ; Eichler, Evan E

Nature genetics, 2015-06, Vol.47 (6), p.582-588 [Periódico revisado por pares]

United States: Nature Publishing Group

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4
Extracellular TDP‐43 aggregates target MAPK/MAK/MRK overlapping kinase (MOK) and trigger caspase‐3/IL‐18 signaling in microglia
Extracellular TDP‐43 aggregates target MAPK/MAK/MRK overlapping kinase (MOK) and trigger caspase‐3/IL‐18 signaling in microglia
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Extracellular TDP‐43 aggregates target MAPK/MAK/MRK overlapping kinase (MOK) and trigger caspase‐3/IL‐18 signaling in microglia

Leal‐Lasarte, María M. ; Franco, Jaime M. ; Labrador‐Garrido, Adahir ; Pozo, David ; Roodveldt, Cintia

The FASEB journal, 2017-07, Vol.31 (7), p.2797-2816 [Periódico revisado por pares]

United States: Federation of American Societies for Experimental Biology (FASEB)

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5
Tau and Aβ42 in lavage fluid of pneumonia patients are associated with end-organ dysfunction: A prospective exploratory study
Tau and Aβ42 in lavage fluid of pneumonia patients are associated with end-organ dysfunction: A prospective exploratory study
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Tau and Aβ42 in lavage fluid of pneumonia patients are associated with end-organ dysfunction: A prospective exploratory study

Renema, Phoibe ; Pittet, Jean-Francois ; Brandon, Angela P ; Leal, Jr, Sixto M ; Gu, Steven ; Promer, Grace ; Hackney, Andrew ; Braswell, Phillip ; Pickering, Andrew ; Rafield, Grace ; Voth, Sarah ; Balczon, Ron ; Lin, Mike T ; Morrow, K Adam ; Bell, Jessica ; Audia, Jonathon P ; Alvarez, Diego ; Stevens, Troy ; Wagener, Brant M

PloS one, 2024, Vol.19 (2), p.e0298816-e0298816 [Periódico revisado por pares]

United States: Public Library of Science (PLoS)

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6
Host response and bacterial virulence factor expression in Pseudomonas aeruginosa and Streptococcus pneumoniae corneal ulcers
Host response and bacterial virulence factor expression in Pseudomonas aeruginosa and Streptococcus pneumoniae corneal ulcers
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Host response and bacterial virulence factor expression in Pseudomonas aeruginosa and Streptococcus pneumoniae corneal ulcers

Karthikeyan, Rajapandian SivaGanesa ; Priya, Jeganathan Lakshmi ; Leal, Jr, Sixto M ; Toska, Jonida ; Rietsch, Arne ; Prajna, Venkatesh ; Pearlman, Eric ; Lalitha, Prajna Coers, Jörn

PloS one, 2013-06, Vol.8 (6), p.e64867-e64867 [Periódico revisado por pares]

United States: Public Library of Science

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7
Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections
Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections
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Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections

Guo, Dong-chuan ; Regalado, Ellen ; Casteel, Darren E. ; Santos-Cortez, Regie L. ; Gong, Limin ; Kim, Jeong Joo ; Dyack, Sarah ; Horne, S. Gabrielle ; Chang, Guijuan ; Jondeau, Guillaume ; Boileau, Catherine ; Coselli, Joseph S. ; Li, Zhenyu ; Leal, Suzanne M. ; Shendure, Jay ; Rieder, Mark J. ; Bamshad, Michael J. ; Nickerson, Deborah A. ; Kim, Choel ; Milewicz, Dianna M.

American journal of human genetics, 2013-08, Vol.93 (2), p.398-404 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
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Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

Tennessen, Jacob A. ; Bigham, Abigail W. ; O'Connor, Timothy D. ; Fu, Wenqing ; Kenny, Eimear E. ; Gravel, Simon ; McGee, Sean ; Do, Ron ; Liu, Xiaoming ; Jun, Goo ; Kang, Hyun Min ; Jordan, Daniel ; Leal, Suzanne M. ; Gabriel, Stacey ; Rieder, Mark J. ; Abecasis, Goncalo ; Altshuler, David ; Nickerson, Deborah A. ; Boerwinkle, Eric ; Sunyaev, Shamil ; Bustamante, Carlos D. ; Bamshad, Michael J. ; Akey, Joshua M.

Science (American Association for the Advancement of Science), 2012-07, Vol.337 (6090), p.64-69 [Periódico revisado por pares]

Washington, DC: American Association for the Advancement of Science

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9
Diagnosis of Clostridioides difficile infection by analysis of volatile organic compounds in breath, plasma, and stool: A cross-sectional proof-of-concept study
Diagnosis of Clostridioides difficile infection by analysis of volatile organic compounds in breath, plasma, and stool: A cross-sectional proof-of-concept study
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Diagnosis of Clostridioides difficile infection by analysis of volatile organic compounds in breath, plasma, and stool: A cross-sectional proof-of-concept study

John, Teny M ; Shrestha, Nabin K ; Procop, Gary W ; Grove, David ; Leal, Jr, Sixto M ; Jacob, Ceena N ; Butler, Robert ; Dweik, Raed Garrett, Timothy J.

PloS one, 2021-08, Vol.16 (8), p.e0256259-e0256259 [Periódico revisado por pares]

United States: Public Library of Science

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10
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency
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Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

Beck, David B. ; Petracovici, Ana ; He, Chongsheng ; Moore, Hannah W. ; Louie, Raymond J. ; Ansar, Muhammad ; Douzgou, Sofia ; Sithambaram, Sivagamy ; Cottrell, Trudie ; Santos-Cortez, Regie Lyn P. ; Prijoles, Eloise J. ; Bend, Renee ; Keren, Boris ; Mignot, Cyril ; Nougues, Marie-Christine ; Õunap, Katrin ; Reimand, Tiia ; Pajusalu, Sander ; Zahid, Muhammad ; Saqib, Muhammad Arif Nadeem ; Buratti, Julien ; Seaby, Eleanor G. ; McWalter, Kirsty ; Telegrafi, Aida ; Baldridge, Dustin ; Shinawi, Marwan ; Leal, Suzanne M. ; Schaefer, G. Bradley ; Stevenson, Roger E. ; Banka, Siddharth ; Bonasio, Roberto ; Fahrner, Jill A.

American journal of human genetics, 2020-02, Vol.106 (2), p.234-245 [Periódico revisado por pares]

United States: Elsevier Inc

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