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22 results for Wohler,+Elizabeth

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Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome
Author / Creator:Poll, Sarah R. ; Martin, Renan ; Wohler, Elizabeth ; Partan, Elizabeth S. ; Walek, Elizabeth ; Salman, Shaima ; Groepper, Daniel ; Kratz, Lisa ; Cernach, Mirlene ; Jesus-Garcia, Reynaldo ; Haldeman-Englert, Chad ; Choi, Yoon Jae ; Morris, Carol D. ; Cohen, Bernard ; Hoover-Fong, Julie ; Valle, David ; Semenza, Gregg L. ; Sobreira, Nara L. M.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2022-12, Vol.18 (12), p.e1010504
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Identification and analyses of exonic and copy number variants in spastic paraplegia
Author / Creator:Shafique, Anum ; Nadeem, Ayesha ; Aslam, Faiza ; Manzoor, Humera ; Noman, Muhammad ; Wohler, Elizabeth ; Witmer, P. Dane ; Sobreira, Nara ; Naz, Sadaf
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-06, Vol.14 (1), p.14331-9, Article 14331
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PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data
Author / Creator:Wohler, Elizabeth ; Martin, Renan ; Griffith, Sean ; Rodrigues, Eliete da S. ; Antonescu, Corina ; Posey, Jennifer E. ; Coban-Akdemir, Zeynep ; Jhangiani, Shalini N. ; Doheny, Kimberly F. ; Lupski, James R. ; Valle, David ; Hamosh, Ada ; Sobreira, Nara
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-08, Vol.16 (1), p.365-365, Article 365
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The impact of chromosomal microarray on clinical management: a retrospective analysis
Author / Creator:Henderson, Lindsay B. ; Applegate, Carolyn D. ; Wohler, Elizabeth ; Sheridan, Molly B. ; Hoover-Fong, Julie ; Batista, Denise A.S.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2014-09, Vol.16 (9), p.657-664
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Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene
Author / Creator:Sobreira, Nara L. M. ; Cirulli, Elizabeth T. ; Avramopoulos, Dimitrios ; Wohler, Elizabeth ; Oswald, Gretchen L. ; Stevens, Eric L. ; Ge, Dongliang ; Shianna, Kevin V. ; Smith, Jason P. ; Maia, Jessica M. ; Gumbs, Curtis E. ; Pevsner, Jonathan ; Thomas, George ; Valle, David ; Hoover-Fong, Julie E. ; Goldstein, David B.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2010-05, Vol.6 (6), p.e1000991-e1000991
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Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy
Author / Creator:Motta, Fabiana ; Martin, Renan ; Porto, Fernanda ; Wohler, Elizabeth ; Resende, Rosane ; Gomes, Caio ; Pesquero, João ; Sallum, Juliana
Publisher:Basel: MDPI AG
Journal title:Genes, 2020-01, Vol.11 (1), p.24
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Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis
Author / Creator:Sobreira, Nara ; Wohler, Elizabeth ; Laham, Ailee ; Hufnagel, Robert B. ; Sisk, Robert A. ; Ahmed, Zubair M.
Publisher:Cairo, Egypt: Hindawi Publishing Corporation
Journal title:Journal of ophthalmology, 2018-01, Vol.2018 (2018), p.1-13
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Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
Author / Creator:Pant, Devesh C. ; Dorboz, Imen ; Schluter, Agatha ; Fourcade, Stéphane ; Launay, Nathalie ; Joya, Javier ; Aguilera-Albesa, Sergio ; Yoldi, Maria Eugenia ; Casasnovas, Carlos ; Willis, Mary J. ; Ruiz, Montserrat ; Ville, Dorothée ; Lesca, Gaetan ; Siquier-Pernet, Karine ; Desguerre, Isabelle ; Yan, Huifang ; Wang, Jingmin ; Burmeister, Margit ; Brady, Lauren ; Tarnopolsky, Mark ; Cornet, Carles ; Rubbini, Davide ; Terriente, Javier ; James, Kiely N. ; Musaev, Damir ; Zaki, Maha S. ; Patterson, Marc C. ; Lanpher, Brendan C. ; Klee, Eric W. ; Pinto e Vairo, Filippo ; Wohler, Elizabeth ; Sobreira, Nara Lygia de M. ; Cohen, Julie S. ; Maroofian, Reza ; Galehdari, Hamid ; Mazaheri, Neda ; Shariati, Gholamreza ; Colleaux, Laurence ; Rodriguez, Diana ; Gleeson, Joseph G. ; Pujades, Cristina ; Fatemi, Ali ; Boespflug-Tanguy, Odile ; Pujol, Aurora
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2019-03, Vol.129 (3), p.1240-1256
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MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity
Author / Creator:Shafique, Anum ; Arif, Beenish ; Chu, Mary Lynn ; Moran, Ellen ; Hussain, Tooba ; Zamora, Francisca Millan ; Wohler, Elizabeth ; Sobreira, Nara ; Klein, Christine ; Lohmann, Katja ; Naz, Sadaf
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2023-04, Vol.60 (4), p.352-358
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Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance
Author / Creator:Schnappauf, Oskar ; Zhou, Qing ; Moura, Natalia Sampaio ; Ombrello, Amanda K. ; Michael, Drew G. ; Deuitch, Natalie ; Barron, Karyl ; Stone, Deborah L. ; Hoffmann, Patrycja ; Hershfield, Michael ; Applegate, Carolyn ; Bjornsson, Hans T. ; Beck, David B. ; Witmer, P. Dane ; Sobreira, Nara ; Wohler, Elizabeth ; Chiorini, John A. ; Center, The American Genome ; Dalgard, Clifton L. ; Center, NIH Intramural Sequencing ; Kastner, Daniel L. ; Aksentijevich, Ivona
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2020-08, Vol.40 (6), p.917-926
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IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease
Author / Creator:Cananzi, Mara ; Wohler, Elizabeth ; Marzollo, Antonio ; Colavito, Davide ; You, Jing ; Jing, Huie ; Bresolin, Silvia ; Gaio, Paola ; Martin, Renan ; Mescoli, Claudia ; Bade, Sangeeta ; Posey, Jennifer E. ; Dalle Carbonare, Maurizio ; Tung, Wesley ; Jhangiani, Shalini N. ; Bosa, Luca ; Zhang, Yu ; Filho, Joselito Sobreira ; Gabelli, Maria ; Kellermayer, Richard ; Kader, Howard A. ; Oliva-Hemker, Maria ; Perilongo, Giorgio ; Lupski, James R. ; Biffi, Alessandra ; Valle, David ; Leon, Alberta ; de Macena Sobreira, Nara Lygia ; Su, Helen C. ; Guerrerio, Anthony L.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2021-09, Vol.140 (9), p.1299-1312
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Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma
Author / Creator:Yousaf, Khazeema ; Naz, Sadaf ; Mushtaq, Asma ; Wohler, Elizabeth ; Sobreira, Nara ; Ho, Bo-Man ; Chen, Li-Jia ; Chu, Wai-Kit ; Bashir, Rasheeda
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-01, Vol.14 (2), p.310
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Exome Sequencing Reveals ISLC4A11/I Variant Underlying Congenital Hereditary Endothelial Dystrophy Misdiagnosed as Congenital Glaucoma
Author / Creator:Yousaf, Khazeema ; Naz, Sadaf ; Mushtaq, Asma ; Wohler, Elizabeth ; Sobreira, Nara ; Ho, Bo-Man ; Chen, Li-Jia ; Chu, Wai-Kit ; Bashir, Rasheeda
Publisher:MDPI AG
Journal title:Genes, 2023-01, Vol.14 (2)
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De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features
Author / Creator:Malhotra, Alka ; Ziegler, Alban ; Shu, Li ; Perrier, Renee ; Amlie-Wolf, Louise ; Wohler, Elizabeth ; Lygia de Macena Sobreira, Nara ; Colin, Estelle ; Vanderver, Adeline ; Sherbini, Omar ; Stouffs, Katrien ; Scalais, Emmanuel ; Serretti, Alessandro ; Barth, Magalie ; Navet, Benjamin ; Rollier, Paul ; Xi, Hui ; Wang, Hua ; Zhang, Hainan ; Perry, Denise L ; Ferrarini, Alessandra ; Colombo, Roberto ; Pepler, Alexander ; Schneider, Adele ; Tomiwa, Kiyotaka ; Okamoto, Nobuhiko ; Matsumoto, Naomichi ; Miyake, Noriko ; Taft, Ryan ; Mao, Xiao ; Bonneau, Dominique
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2021-10, Vol.58 (10), p.712-716
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A Missense Variant in CASKIN1’s Proline-Rich Region Segregates with Psychosis in a Three-Generation Family
Author / Creator:Wahbeh, Marah H. ; Peng, Xi ; Bacharaki, Sofia ; Hatzimanolis, Alexandros ; Dimitrakopoulos, Stefanos ; Wohler, Elizabeth ; Yang, Xue ; Yovo, Christian ; Maher, Brady J. ; Sobreira, Nara ; Stefanis, Nikos C. ; Avramopoulos, Dimitrios
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-01, Vol.14 (1), p.177
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Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy
Author / Creator:Motta, Fabiana L ; Martin, Renan P ; Porto, Fernanda B O ; Wohler, Elizabeth S ; Resende, Rosane G ; Gomes, Caio P ; Pesquero, João B ; Sallum, Juliana M F
Publisher:Switzerland
Journal title:Genes, 2019-12, Vol.11 (1)
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Germline ERBB2/HER2 Coding Variants Are Associated with Increased Risk of Myeloproliferative Neoplasms
Author / Creator:Braunstein, Evan M. ; Chen, Hang ; Juarez, Felicia ; Yang, Fanghan ; Tao, Lindsay ; Makhlin, Igor ; Williams, Donna M. ; Chaturvedi, Shruti ; Pallavajjala, Aparna ; Karantanos, Theodoros ; Martin, Renan ; Wohler, Elizabeth ; Sobreira, Nara ; Gocke, Christopher D. ; Moliterno, Alison R.
Publisher:Switzerland: MDPI AG
Journal title:Cancers, 2021-06, Vol.13 (13), p.3246
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Genomic analysis of partial 21q monosomies with variable phenotypes
Author / Creator:Roberson, Elisha D O ; Wohler, Elizabeth Squibb ; Hoover-Fong, Julie E ; Lisi, Emily ; Stevens, Eric L ; Thomas, George H ; Leonard, Jay ; Hamosh, Ada ; Pevsner, Jonathan
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2011-02, Vol.19 (2), p.235-238
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Mosaic trisomy 13: understanding origin using SNP array
Author / Creator:Jinawath, Natini ; Zambrano, Regina ; Wohler, Elizabeth ; Palmquist, Maria K ; Hoover-Fong, Julie ; Hamosh, Ada ; Batista, Denise A S
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2011-05, Vol.48 (5), p.323-326
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Mosaic trisomy 13: understanding origin using SNP array : Copy-number variation
Author / Creator:JINAWATH, Natini ; ZAMBRANO, Regina ; WOHLER, Elizabeth ; PALMQUIST, Maria K ; HOOVER-FONG, Julie ; HAMOSH, Ada ; BATISTA, Denise A. S
Publisher:London: BMJ Publishing Group
Journal title:Journal of medical genetics, 2011, Vol.48 (5), p.323-326
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Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome

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Identification and analyses of exonic and copy number variants in spastic paraplegia

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PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

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The impact of chromosomal microarray on clinical management: a retrospective analysis

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Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene

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Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy

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Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis

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Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

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MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity

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Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

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IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease

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Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma

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Exome Sequencing Reveals ISLC4A11/I Variant Underlying Congenital Hereditary Endothelial Dystrophy Misdiagnosed as Congenital Glaucoma

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De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features

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A Missense Variant in CASKIN1’s Proline-Rich Region Segregates with Psychosis in a Three-Generation Family

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Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy

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Germline ERBB2/HER2 Coding Variants Are Associated with Increased Risk of Myeloproliferative Neoplasms

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Genomic analysis of partial 21q monosomies with variable phenotypes

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Mosaic trisomy 13: understanding origin using SNP array

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Mosaic trisomy 13: understanding origin using SNP array : Copy-number variation

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