Výsledky vyhledávání - Meghana Vemulapalli
- Zobrazuji výsledky 1 - 13 z 13
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Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center Autor Brian P. Brooks, Wadih M. Zein, A. Thompson, Maryam Mokhtarzadeh, Dan Doherty, Melissa A. Parisi, Ian Glass, May Christine V. Malicdan, Thierry Vilboux, Meghana Vemulapalli, James C. Mullikin, William A. Gahl, Meral Gunay‐Aygun
Vydáno 2018Artigo -
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Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50 Autor Settara C. Chandrasekharappa, Steven B. Chinn, Frank X. Donovan, Naweed I. Chowdhury, Aparna A. Kamat, Adebowale Adeyemo, James W. Thomas, Meghana Vemulapalli, Caroline S. Hussey, Holly H. Reid, James C. Mullikin, Qingyi Wei, Erich M. Sturgis
Vydáno 2017Artigo -
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A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families Autor Danielle C. Kimble, Francis P. Lach, Siobhán Q. Gregg, Frank X. Donovan, Elizabeth K. Flynn, Aparna A. Kamat, Alice Young, Meghana Vemulapalli, James W. Thomas, James C. Mullikin, Arleen D. Auerbach, Agata Smogorzewska, Settara C. Chandrasekharappa
Vydáno 2017Artigo -
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Prospective Evaluation of Kidney Disease in Joubert Syndrome Autor Leah R. Fleming, Daniel Doherty, Melissa A. Parisi, Ian Glass, Joy Bryant, Roxanne Fischer, Barış Türkbey, Peter L. Choyke, Kailash Daryanani, Meghana Vemulapalli, James C. Mullikin, May Christine V. Malicdan, Thierry Vilboux, John A. Sayer, William A. Gahl, Meral Gunay‐Aygun
Vydáno 2017Artigo -
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Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center Autor Thierry Vilboux, Dan Doherty, Ian Glass, Melissa A. Parisi, Ian G. Phelps, Andrew R. Cullinane, Wadih M. Zein, Brian P. Brooks, Theo Heller, Ariane Soldatos, Neal L. Oden, Deniz Yildirimli, Meghana Vemulapalli, James C. Mullikin, May Christine V. Malicdan, William A. Gahl, Meral Gunay‐Aygun
Vydáno 2017Artigo -
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Mutations in human homologue of chicken<i>talpid3</i>gene (<i>KIAA0586</i>) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes Autor May Christine V. Malicdan, Thierry Vilboux, Joshi Stephen, Dino Maglic, Luhe Mian, Daniel Konzman, Jennifer Guo, Deniz Yildirimli, Joy Bryant, Roxanne Fischer, Wadih M. Zein, Joseph Snow, Meghana Vemulapalli, James C. Mullikin, Camilo Toro, Benjamin D. Solomon, John E. Niederhuber, William A. Gahl, Meral Gunay‐Aygun
Vydáno 2015Artigo -
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Integrated genomic and functional analyses of human skin–associated <i>Staphylococcus</i> reveal extensive inter- and intra-species diversity Autor Payal Joglekar, Sean Conlan, Shih-Queen Lee-Lin, Clay Deming, Sara Saheb Kashaf, Heidi H. Kong, Julia A. Segre, Beatrice B. Barnabas, Sean Black, Gerard G. Bouffard, Shelise Brooks, Juyun Crawford, Holly Marfani, Lyudmila Dekhtyar, Joel Han, Shi-ling Ho, Richelle Legaspi, Quino Maduro, Catherine A. Masiello, Jennifer C. McDowell, Casandra Montemayor, James C. Mullikin, Morgan Park, Nancy L. Riebow, Karen Schandler, Brian Schmidt, Christina Sison, Sirintorn Stantripop, James W. Thomas, Pamela J. Thomas, Meghana Vemulapalli, Alice Young
Vydáno 2023Artigo -
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Dosage compensation and DNA methylation landscape of the X chromosome in mouse liver Autor Christopher G. Duncan, Sara A. Grimm, Daniel L. Morgan, Pierre R. Bushel, Brian D. Bennett, Beatrice B. Barnabas, Gerard G. Bouffard, Shelise Brooks, Holly Coleman, Lyudmila Dekhtyar, Xiaobin Guan, Joel Han, Shi-ling Ho, Richelle Legaspi, Quino Maduro, Catherine A. Masiello, Jennifer C. McDowell, Casandra Montemayor, James C. Mullikin, Morgan Park, Nancy L. Riebow, Karen Schandler, Brian J. Schmidt, Christina Sison, Raymond Arthur Smith, Sirintorn Stantripop, James W. Thomas, Pamela J. Thomas, Meghana Vemulapalli, Alice Young, John D. Roberts, Frederick L. Tyson, B. Alex Merrick, Paul A. Wade
Vydáno 2018Artigo -
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DNA methylation in mice is influenced by genetics as well as sex and life experience Autor Sara A. Grimm, Takashi Shimbo, Motoki Takaku, James W. Thomas, Scott S. Auerbach, Brian D. Bennett, John R. Bucher, Adam Burkholder, Frank Day, Ying Du, Christopher G. Duncan, John E. French, Julie F. Foley, Jianying Li, B. Alex Merrick, Raymond R. Tice, Tianyuan Wang, Xiaojiang Xu, Beatrice B. Barnabas, Gerard G. Bouffard, Shelise Brooks, Holly Coleman, Lyudmila Dekhtyar, Xiaobin Guan, Joel Han, Shi-ling Ho, Richelle Legaspi, Quino Maduro, Catherine A. Masiello, Jennifer C. McDowell, Cassandra Montemayor, Morgan Park, Nancy L. Riebow, Karen Schandler, Chanthra Scharer, Brian L. Schmidt, Christina Sison, Sirintorn Stantripop, Pamela J. Thomas, Meghana Vemulapalli, Alice Young, Pierre R. Bushel, David C. Fargo, James C. Mullikin, Paul A. Wade
Vydáno 2019Artigo -
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Genetic effects on liver chromatin accessibility identify disease regulatory variants Autor Kevin W. Currin, Michael R. Erdos, Narisu Narisu, Vivek Rai, Swarooparani Vadlamudi, Hannah J. Perrin, Jacqueline R. Idol, Tingfen Yan, Ricardo D’Oliveira Albanus, K. Alaine Broadaway, Amy S. Etheridge, Lori L. Bonnycastle, Peter Orchard, John P. Didion, Amarjit S. Chaudhry, Federico Innocenti, Erin G. Schuetz, Laura J. Scott, Stephen C. J. Parker, Francis S. Collins, Karen L. Mohlke, Beatrice B. Barnabas, Sean Black, Gerard G. Bouffard, Shelise Brooks, Holly Coleman, Lyudmila Dekhtyar, Joel Han, Shi-ling Ho, Juyun Kim, Richelle Legaspi, Quino Maduro, Catherine A. Masiello, Jennifer C. McDowell, Casandra Montemayor, James C. Mullikin, Morgan Park, Nancy L. Riebow, Karen Schandler, Brian L. Schmidt, Christina Sison, Sirintorn Stantripop, James W. Thomas, Pamela J. Thomas, Meghana Vemulapalli, Alice C. Young
Vydáno 2021Artigo -
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Genetic regulatory signatures underlying islet gene expression and type 2 diabetes Autor Arushi Varshney, Laura J. Scott, Ryan Welch, Michael R. Erdos, Peter S. Chines, Narisu Narisu, Ricardo D’Oliveira Albanus, Peter Orchard, Brooke N. Wolford, Romy Kursawe, Swarooparani Vadlamudi, Maren E. Cannon, John P. Didion, John Hensley, Anthony Kirilusha, Lori L. Bonnycastle, D. Leland Taylor, Richard M. Watanabe, Karen L. Mohlke, Michael Boehnke, Francis S. Collins, Stephen C. J. Parker, Michael L. Stitzel, Beatrice B. Barnabas, Gerard G. Bouffard, Shelise Brooks, Holly Coleman, Lyudmila Dekhtyar, Xiaobin Guan, Joel Han, Shi-ling Ho, Richelle Legaspi, Quino Maduro, Catherine A. Masiello, Jennifer C. McDowell, Casandra Montemayor, James C. Mullikin, Morgan Park, Nancy L. Riebow, Jessica D. Rosarda, Karen Schandler, Brian J. Schmidt, Christina Sison, Raymond Arthur Smith, Sirintorn Stantripop, James W. Thomas, Pamela J. Thomas, Meghana Vemulapalli, Alice Young
Vydáno 2017Artigo
Vyhledávací nástroje:
Související témata
Biology
Genetics
Gene
Computational biology
Medicine
DNA methylation
Epigenomics
Gene expression
Ciliopathy
Genome
Internal medicine
Joubert syndrome
Pathology
Phenotype
Bioinformatics
Chromatin
Cilium
CpG site
DNA repair
Disease
Ecology
Epigenetics
Evolutionary biology
Exome sequencing
Expression quantitative trait loci
Fanconi anemia
Genome-wide association study
Genotype
Methylation
Mutation