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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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12
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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13
Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era
Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era
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Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era

Xie, Zhiying ; Sun, Chengyue ; Liu, Yilin ; Yu, Meng ; Zheng, Yiming ; Meng, Lingchao ; Wang, Gao ; Cornejo-Sanchez, Diana M ; Bharadwaj, Thashi ; Yan, Jin ; Zhang, Lingxiang ; Pineda-Trujillo, Nicolas ; Zhang, Wei ; Leal, Suzanne M. ; Schrauwen, Isabelle ; Wang, Zhaoxia ; Yuan, Yun

Journal of medical genetics, 2021-11, Vol.58 (11), p.743-751 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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14
Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia
Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia
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Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia

Sebat, Jonathan ; Vacic, Vladimir ; McCarthy, Shane ; Malhotra, Dheeraj ; Murray, Fiona ; Chou, Hsun-Hua ; Peoples, Aine ; Makarov, Vladimir ; Yoon, Seungtai ; Bhandari, Abhishek ; Corominas, Roser ; Iakoucheva, Lilia M ; Krastoshevsky, Olga ; Krause, Verena ; Larach-Walters, Verónica ; Welsh, David K ; Craig, David ; Kelsoe, John R ; Gershon, Elliot S ; Leal, Suzanne M ; Aquila, Marie Dell ; Morris, Derek W ; Gill, Michael ; Corvin, Aiden ; Insel, Paul A ; McClellan, Jon ; King, Mary-Claire ; Karayiorgou, Maria ; Levy, Deborah L ; DeLisi, Lynn E

Nature (London), 2011-03, Vol.471 (7339), p.499-503 [Periódico revisado por pares]

London: Nature Publishing Group

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15
Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders
Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders
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Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders

Schrauwen, Isabelle ; Rajendran, Yasmin ; Acharya, Anushree ; Öhman, Susanna ; Arvio, Maria ; Paetau, Ritva ; Siren, Auli ; Avela, Kristiina ; Granvik, Johanna ; Leal, Suzanne M ; Määttä, Tuomo ; Kokkonen, Hannaleena ; Järvelä, Irma

Scientific reports, 2024-05, Vol.14 (1), p.11239-11239, Article 11239 [Periódico revisado por pares]

England: Nature Publishing Group

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16
Chronic Cadmium Exposure Accelerates the Development of Atherosclerosis and Induces Vascular Dysfunction in the Aorta of ApoE−/− Mice
Chronic Cadmium Exposure Accelerates the Development of Atherosclerosis and Induces Vascular Dysfunction in the Aorta of ApoE−/− Mice
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Chronic Cadmium Exposure Accelerates the Development of Atherosclerosis and Induces Vascular Dysfunction in the Aorta of ApoE−/− Mice

Oliveira, T. F. ; Batista, P. R. ; Leal, M. A. ; Campagnaro, B. P. ; Nogueira, B. V. ; Vassallo, D. V. ; Meyrelles, S. S. ; Padilha, Alessandra Simão

Biological trace element research, 2019-01, Vol.187 (1), p.163-171 [Periódico revisado por pares]

New York: Springer US

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17
Frequency and Complexity of De Novo Structural Mutation in Autism
Frequency and Complexity of De Novo Structural Mutation in Autism
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Frequency and Complexity of De Novo Structural Mutation in Autism

Brandler, William M. ; Antaki, Danny ; Gujral, Madhusudan ; Noor, Amina ; Rosanio, Gabriel ; Chapman, Timothy R. ; Barrera, Daniel J. ; Lin, Guan Ning ; Malhotra, Dheeraj ; Watts, Amanda C. ; Wong, Lawrence C. ; Estabillo, Jasper A. ; Gadomski, Therese E. ; Hong, Oanh ; Fajardo, Karin V. Fuentes ; Bhandari, Abhishek ; Owen, Renius ; Baughn, Michael ; Yuan, Jeffrey ; Solomon, Terry ; Moyzis, Alexandra G. ; Maile, Michelle S. ; Sanders, Stephan J. ; Reiner, Gail E. ; Vaux, Keith K. ; Strom, Charles M. ; Zhang, Kang ; Muotri, Alysson R. ; Akshoomoff, Natacha ; Leal, Suzanne M. ; Pierce, Karen ; Courchesne, Eric ; Iakoucheva, Lilia M. ; Corsello, Christina ; Sebat, Jonathan

American journal of human genetics, 2016-04, Vol.98 (4), p.667-679 [Periódico revisado por pares]

United States: Elsevier Inc

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18
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)
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Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)

Ferguson, P J ; Chen, S ; Tayeh, M K ; Ochoa, L ; Leal, S M ; Pelet, A ; Munnich, A ; Lyonnet, S ; Majeed, H A ; El-Shanti, H

Journal of medical genetics, 2005-07, Vol.42 (7), p.551-557 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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19
Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project
Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project
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Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project

Auer, Paul L. ; Reiner, Alex P. ; Wang, Gao ; Kang, Hyun Min ; Abecasis, Goncalo R. ; Altshuler, David ; Bamshad, Michael J. ; Nickerson, Deborah A. ; Tracy, Russell P. ; Rich, Stephen S. ; Leal, Suzanne M.

American journal of human genetics, 2016-10, Vol.99 (4), p.791-801 [Periódico revisado por pares]

United States: Elsevier Inc

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20
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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