Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Meghana Vemulapalli"'
Autor:
Sirintorn Stantripop, Sean Black, Ricardo D’Oliveira Albanus, S. L. Ho, John P. Didion, Beatrice B. Barnabas, Francis S. Collins, Brian P. Schmidt, Peter Orchard, Quino Maduro, Casandra Montemayor, Christina Sison, Karen L. Mohlke, Hannah J Perrin, K. Alaine Broadaway, Alice C. Young, Juyun Kim, Morgan Park, Laura J. Scott, Swarooparani Vadlamudi, Erin G. Schuetz, Karen Schandler, Narisu Narisu, James W. Thomas, Richelle Legaspi, Shelise Brooks, Gerard G. Bouffard, Joel Han, Federico Innocenti, Nancy Riebow, Vivek Rai, Lyudmila Dekhtyar, James C. Mullikin, Stephen C. J. Parker, Michael R. Erdos, Holly Coleman, Tingfen Yan, Catherine A. Masiello, Lori L. Bonnycastle, Jacqueline R. Idol, Amarjit S. Chaudhry, Jennifer C. McDowell, Kevin W Currin, Meghana Vemulapalli, Pamela J. Thomas, Amy S. Etheridge
Publikováno v:
Am J Hum Genet
Identifying the molecular mechanisms by which genome-wide association study (GWAS) loci influence traits remains challenging. Chromatin accessibility quantitative trait loci (caQTLs) help identify GWAS loci that may alter GWAS traits by modulating ch
Autor:
Ian A. Glass, John A. Sayer, Kailash Daryanani, Dan Doherty, May Christine V. Malicdan, Joy Bryant, Peter L. Choyke, Melissa A. Parisi, Thierry Vilboux, Meghana Vemulapalli, Roxanne Fischer, William A. Gahl, James C. Mullikin, Meral Gunay-Aygun, Baris Turkbey, Leah R. Fleming
Publikováno v:
Clinical Journal of the American Society of Nephrology. 12:1962-1973
Background and objectives Joubert syndrome is a genetically heterogeneous ciliopathy associated with >30 genes. The characteristics of kidney disease and genotype-phenotype correlations have not been evaluated in a large cohort at a single center. De
Autor:
Settara C. Chandrasekharappa, Adebowale Adeyemo, James W. Thomas, Frank X. Donovan, James C. Mullikin, Holly H. Reid, Steven B. Chinn, Erich M. Sturgis, Qingyi Wei, Naweed I. Chowdhury, Aparna Kamat, Meghana Vemulapalli, Caroline Hussey
Publikováno v:
Cancer. 123:3943-3954
BACKGROUND Patients with Fanconi anemia (FA) have an increased risk for head and neck squamous cell carcinoma (HNSCC). The authors sought to determine the prevalence of undiagnosed FA and FA carriers among patients with HNSCC as well as an age cutoff
Autor:
Yulong Li, Bin Guan, Electron Kebebew, William F. Simonds, Sunita K. Agarwal, Meghana Vemulapalli, James Welch, Stephen J. Marx, Hua Ling
Publikováno v:
Journal of the Endocrine Society
Context: Germline gain-of-function variants in the transcription factor GCM2 were found in 18% of kindreds with familial isolated hyperparathyroidism (FIHP). These variants [c.1136T>A (p.Leu379Gln) and c.1181A>C (p.Tyr394Ser)] were located in a 17-am
Autor:
Dawn M. Maynard, Thierry Vilboux, Meral Gunay-Aygun, Deniz Yildirimli, May Christine V. Malicdan, Roxanne Fischer, William A. Gahl, Joy Bryant, Meghana Vemulapalli, Luhe Mian, Chulaluck Kuptanon, Joshi Stephen, Marjan Huizing, James C. Mullikin, Courtney M. Sinclair
Publikováno v:
Human Genetics. 136:399-408
Joubert syndrome and related disorders (JSRD) are a heterogeneous group of ciliopathies defined based on the mid-hindbrain abnormalities that result in the characteristic “molar tooth sign” on brain imaging. The core clinical findings of JSRD are
Autor:
Carsten G. Bönnemann, Francis J. McMahon, Quino Maduro, Alan T. Remaley, Brian P. Brooks, Sirintorn Stantripop, Jennifer C. McDowell, Kendall L. Umstead, Gerard G. Bouffard, Erin Turbitt, Catherine A. Masiello, Karen Schandler, Jeffrey Baron, Jennifer J. Johnston, Beatrice B. Barnabas, Richelle Legaspi, James W. Thomas, Holly Coleman, Eileen Pelayo, Barbara B. Biesecker, D. Nadine Dogbe, Ilias Alevizos, Joel Moss, W. Marston Linehan, Helen C. Su, Casandra Montemayor, Brian Schmidt, Alice C. Young, Morgan Park, Meghana Vemulapalli, Richard M. Siegel, Pamela J. Thomas, Chanthra Scharer, Youn Hee Jee, Deborah Nielsen, Carlos A. Zarate, Christina Sison, Leslie G. Biesecker, Alexis R Heidlebaugh, Sandra Donkervoort, Nancy Riebow, Shelise Brooks, James C. Mullikin, Teri A. Manolio, Julie C. Sapp, Xiaobin Guan, Ane Miren Sagardia, S. L. Ho, Kate Driscoll, Joel Han, Lyudmila Dekhtyar
© 2018 While consensus regarding the return of secondary genomic findings in the clinical setting has been reached, debate about such findings in the research setting remains. We developed a hybrid, research-clinical translational genomics process f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f8f30234ebb7d1b8ff21c42057bf2c8
https://europepmc.org/articles/PMC6128311/
https://europepmc.org/articles/PMC6128311/
Autor:
Amy H. Thompson, May Christine V. Malicdan, Brian P. Brooks, Dan Doherty, Meghana Vemulapalli, Ian A. Glass, Thierry Vilboux, Maryam Mokhtarzadeh, Meral Gunay-Aygun, Melissa A. Parisi, Wadih M. Zein, William A. Gahl, James C. Mullikin
Publikováno v:
Ophthalmology
PURPOSE: Joubert syndrome (JS) is a ciliopathy caused by mutations in more than 34 genes that encode proteins involved with primary (nonmotile) cilia and the cilium basal body. In addition to neurodevelopmental, kidney, and liver manifestations, JS i
Autor:
Melissa A. Parisi, Jim C. Mullikin, Ian A. Glass, Meral Gunay-Aygun, William A. Gahl, Baris Turkbey, Joy Bryant, May Christine V. Malicdan, Dan Doherty, Anna Strongin, Deniz Yildirimli, Theo Heller, Thierry Vilboux, Meghana Vemulapalli, Kailash Daryanani, Peter L. Choyke
Publikováno v:
Journal of pediatric gastroenterology and nutrition. 66(3)
Joubert Syndrome (JS) is a rare, inherited, ciliopathy defined by cerebellar and brainstem malformations and is variably associated with liver, kidney, and ocular dysfunction. This study characterizes the hepatic findings in JS and identifies factors
Autor:
James W. Thomas, Agata Smogorzewska, Alice Young, Danielle C. Kimble, Meghana Vemulapalli, Aparna Kamat, Frank X. Donovan, James C. Mullikin, Francis P. Lach, Elizabeth K. Flynn, Settara C. Chandrasekharappa, Siobhan Q. Gregg, Arleen D. Auerbach
Publikováno v:
Human mutation. 39(2)
Fanconi anemia (FA) is a rare recessive DNA repair deficiency resulting from mutations in one of at least 22 genes. Two-thirds of FA families harbor mutations in FANCA. To genotype patients in the International Fanconi Anemia Registry (IFAR) we emplo
Autor:
Shawn M. Burgess, Gaurav K. Varshney, Meghana Vemulapalli, Matthew C. LaFave, James C. Mullikin
Publikováno v:
Genetics
Substantial intrastrain variation at the nucleotide level complicates molecular and genetic studies in zebrafish, such as the use of CRISPRs or morpholinos to inactivate genes. In the absence of robust inbred zebrafish lines, we generated NHGRI-1, a