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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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2
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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3
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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4
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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5
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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6
MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms
MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms
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MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms

Guo, Dong-chuan ; Gong, Limin ; Regalado, Ellen S. ; Santos-Cortez, Regie L. ; Zhao, Ren ; Cai, Bo ; Veeraraghavan, Sudha ; Prakash, Siddharth K. ; Johnson, Ralph J. ; Muilenburg, Ann ; Willing, Marcia ; Jondeau, Guillaume ; Boileau, Catherine ; Pannu, Hariyadarshi ; Moran, Rocio ; Debacker, Julie ; Bamshad, Michael J. ; Shendure, Jay ; Nickerson, Deborah A. ; Leal, Suzanne M. ; Raman, C.S. ; Swindell, Eric C. ; Milewicz, Dianna M.

American journal of human genetics, 2015-01, Vol.96 (1), p.170-177 [Periódico revisado por pares]

United States: Elsevier Inc

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7
LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections
LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections
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LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections

Guo, Dong-chuan ; Regalado, Ellen S. ; Pinard, Amelie ; Chen, Jiyuan ; Lee, Kwanghyuk ; Rigelsky, Christina ; Zilberberg, Lior ; Hostetler, Ellen M. ; Aldred, Micheala ; Wallace, Stephanie E. ; Prakash, Siddharth K. ; Leal, Suzanne M. ; Bamshad, Michael J. ; Nickerson, Deborah A. ; Natowicz, Marvin ; Rifkin, Daniel B. ; Milewicz, Dianna M.

American journal of human genetics, 2018-04, Vol.102 (4), p.706-712 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Effect of Catechol-o-methyltransferase-gene (COMT) Variants on Experimental and Acute Postoperative Pain in 1,000 Women undergoing Surgery for Breast Cancer
Effect of Catechol-o-methyltransferase-gene (COMT) Variants on Experimental and Acute Postoperative Pain in 1,000 Women undergoing Surgery for Breast Cancer
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Effect of Catechol-o-methyltransferase-gene (COMT) Variants on Experimental and Acute Postoperative Pain in 1,000 Women undergoing Surgery for Breast Cancer

KAMBUR, Oleg ; KAUNISTO, Mari A ; TIKKANEN, Emmi ; LEAL, Suzanne M ; RIPATTI, Samuli ; KALSO, Eija A

Anesthesiology (Philadelphia), 2013-12, Vol.119 (6), p.1422-1433 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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9
FOXE3 mutations predispose to thoracic aortic aneurysms and dissections
FOXE3 mutations predispose to thoracic aortic aneurysms and dissections
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FOXE3 mutations predispose to thoracic aortic aneurysms and dissections

Kuang, Shao-Qing ; Medina-Martinez, Olga ; Guo, Dong-Chuan ; Gong, Limin ; Regalado, Ellen S ; Reynolds, Corey L ; Boileau, Catherine ; Jondeau, Guillaume ; Prakash, Siddharth K ; Kwartler, Callie S ; Zhu, Lawrence Yang ; Peters, Andrew M ; Duan, Xue-Yan ; Bamshad, Michael J ; Shendure, Jay ; Nickerson, Debbie A ; Santos-Cortez, Regie L ; Dong, Xiurong ; Leal, Suzanne M ; Majesky, Mark W ; Swindell, Eric C ; Jamrich, Milan ; Milewicz, Dianna M

The Journal of clinical investigation, 2016-03, Vol.126 (3), p.948-961 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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10
Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease
Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease
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Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

Jenkinson, Emma M. ; Rehman, Atteeq U. ; Walsh, Tom ; Clayton-Smith, Jill ; Lee, Kwanghyuk ; Morell, Robert J. ; Drummond, Meghan C. ; Khan, Shaheen N. ; Naeem, Muhammad Asif ; Rauf, Bushra ; Billington, Neil ; Schultz, Julie M. ; Urquhart, Jill E. ; Lee, Ming K. ; Berry, Andrew ; Hanley, Neil A. ; Mehta, Sarju ; Cilliers, Deirdre ; Clayton, Peter E. ; Kingston, Helen ; Smith, Miriam J. ; Warner, Thomas T. ; Black, Graeme C. ; Trump, Dorothy ; Davis, Julian R.E. ; Ahmad, Wasim ; Leal, Suzanne M. ; Riazuddin, Sheikh ; King, Mary-Claire ; Friedman, Thomas B. ; Newman, William G.

American journal of human genetics, 2013-04, Vol.92 (4), p.605-613 [Periódico revisado por pares]

United States: Elsevier Inc

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