Search Results - "Vemulapalli, Meghana"

Out of Pocket Expenditure among Cancer Patients Availing Treatment at A Tertiary Care Centre in Hyderabad, India by Syed Ahmed Mohiuddin, Vemulapalli Meghana, Surson Varshit Reddy

“…Background: The expenses that the patient or the family pays directly to the health care provider, without a third-party (insurer or State) is known as 'Out of…”
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Prospective Evaluation of Kidney Disease in Joubert Syndrome by Fleming, Leah R, Doherty, Daniel A, Parisi, Melissa A, Glass, Ian A, Bryant, Joy, Fischer, Roxanne, Turkbey, Baris, Choyke, Peter, Daryanani, Kailash, Vemulapalli, Meghana, Mullikin, James C, Malicdan, May Christine, Vilboux, Thierry, Sayer, John A, Gahl, William A, Gunay-Aygun, Meral

“…Joubert syndrome is a genetically heterogeneous ciliopathy associated with >30 genes. The characteristics of kidney disease and genotype-phenotype correlations…”
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A subset of SMN complex members have a specific role in tissue regeneration via ERBB pathway-mediated proliferation by Pei, Wuhong, Xu, Lisha, Chen, Zelin, Slevin, Claire C., Pettie, Kade P., Wincovitch, Stephen, Burgess, Shawn M.

“…Spinal muscular atrophy (SMA) is the most common genetic disease in children. SMA is generally caused by mutations in the gene SMN1 . The survival of motor…”
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A defined zebrafish line for high-throughput genetics and genomics: NHGRI-1 by LaFave, Matthew C, Varshney, Gaurav K, Vemulapalli, Meghana, Mullikin, James C, Burgess, Shawn M

“…Substantial intrastrain variation at the nucleotide level complicates molecular and genetic studies in zebrafish, such as the use of CRISPRs or morpholinos to…”
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Genetic regulatory signatures underlying islet gene expression and type 2 diabetes by Varshney, Arushi, Scott, Laura J., Welch, Ryan P., Erdos, Michael R., Chines, Peter S., Narisu, Narisu, Albanus, Ricardo D’O., Orchard, Peter, Wolford, Brooke N., Kursawe, Romy, Vadlamudi, Swarooparani, Cannon, Maren E., Didion, John P., Hensley, John, Kirilusha, Anthony, Bonnycastle, Lori L., Taylor, D. Leland, Watanabe, Richard, Mohlke, Karen L., Boehnke, Michael, Collins, Francis S., Parker, Stephen C. J., Stitzel, Michael L.

“…Genome-wide association studies (GWAS) have identified >100 independent SNPs that modulate the risk of type 2 diabetes (T2D) and related traits. However, the…”
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Expanded skin virome in DOCK8-deficient patients by Tirosh, Osnat, Conlan, Sean, Deming, Clay, Lee-Lin, Shih-Queen, Huang, Xin, Su, Helen C., Freeman, Alexandra F., Segre, Julia A., Kong, Heidi H.

“…Human microbiome studies have revealed the intricate interplay of host immunity and bacterial communities to achieve homeostatic balance. Healthy skin…”
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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 by Vilboux, Thierry, Doherty, Daniel A., Glass, Ian A., Parisi, Melissa A., Phelps, Ian G., Cullinane, Andrew R., Zein, Wadih, Brooks, Brian P., Heller, Theo, Soldatos, Ariane, Oden, Neal L., Yildirimli, Deniz, Vemulapalli, Meghana, Mullikin, James C., NISC Comparative Sequencing Program, Malicdan, May Christine V., Gahl, William A., Gunay-Aygun, Meral

“…Purpose: Joubert syndrome (JS) is a genetically and clinically heterogeneous ciliopathy characterized by distinct cerebellar and brainstem malformations…”
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Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center by Brooks, Brian P., Zein, Wadih M., Thompson, Amy H., Mokhtarzadeh, Maryam, Doherty, Daniel A., Parisi, Melissa, Glass, Ian A., Malicdan, May C., Vilboux, Thierry, Vemulapalli, Meghana, Mullikin, James C., Gahl, William A., Gunay-Aygun, Meral

“…Joubert syndrome (JS) is caused by mutations in >34 genes that encode proteins involved with primary (nonmotile) cilia and the cilium basal body. This study…”
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Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50 by Chandrasekharappa, Settara C., Chinn, Steven B., Donovan, Frank X., Chowdhury, Naweed I., Kamat, Aparna, Adeyemo, Adebowale A., Thomas, James W., Vemulapalli, Meghana, Hussey, Caroline S., Reid, Holly H., Mullikin, James C., Wei, Qingyi, Sturgis, Erich M.

“…BACKGROUND Patients with Fanconi anemia (FA) have an increased risk for head and neck squamous cell carcinoma (HNSCC). The authors sought to determine the…”
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Cell-type-specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes by Zhang, Tongwu, Choi, Jiyeon, Kovacs, Michael A, Shi, Jianxin, Xu, Mai, Goldstein, Alisa M, Trower, Adam J, Bishop, D Timothy, Iles, Mark M, Duffy, David L, MacGregor, Stuart, Amundadottir, Laufey T, Law, Matthew H, Loftus, Stacie K, Pavan, William J, Brown, Kevin M

“…Most expression quantitative trait locus (eQTL) studies to date have been performed in heterogeneous tissues as opposed to specific cell types. To better…”
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Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause by Poretti, Andrea, Snow, Joseph, Summers, Angela C, Tekes, Aylin, Huisman, Thierry A G M, Aygun, Nafi, Carson, Kathryn A, Doherty, Dan, Parisi, Melissa A, Toro, Camilo, Yildirimli, Deniz, Vemulapalli, Meghana, Mullikin, Jim C, Cullinane, Andrew R, Vilboux, Thierry, Gahl, William A, Gunay-Aygun, Meral

“…Joubert syndrome is a clinically and genetically heterogeneous ciliopathy. Neuroimaging findings have not been systematically evaluated in a large cohort of…”
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Integrated genomic and functional analyses of human skin-associated Staphylococcus reveal extensive inter- and intra-species diversity by Joglekar, Payal, Conlan, Sean, Lee-Lin, Shih-Queen, Deming, Clay, Kashaf, Sara Saheb, Kong, Heidi H, Segre, Julia A

“…Human skin is stably colonized by a distinct microbiota that functions together with epidermal cells to maintain a protective physical barrier. , a prominent…”
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A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families by Kimble, Danielle C., Lach, Francis P., Gregg, Siobhan Q., Donovan, Frank X., Flynn, Elizabeth K., Kamat, Aparna, Young, Alice, Vemulapalli, Meghana, Thomas, James W., Mullikin, James C., Auerbach, Arleen D., Smogorzewska, Agata, Chandrasekharappa, Settara C.

“…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…”
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Genetic effects on liver chromatin accessibility identify disease regulatory variants by Currin, Kevin W., Erdos, Michael R., Narisu, Narisu, Rai, Vivek, Vadlamudi, Swarooparani, Perrin, Hannah J., Idol, Jacqueline R., Yan, Tingfen, Albanus, Ricardo D’Oliveira, Broadaway, K. Alaine, Etheridge, Amy S., Bonnycastle, Lori L., Orchard, Peter, Didion, John P., Chaudhry, Amarjit S., Barnabas, Beatrice B., Black, Sean, Bouffard, Gerard G., Brooks, Shelise Y., Coleman, Holly, Dekhtyar, Lyudmila, Han, Joel, Ho, Shi-ling, Kim, Juyun, Legaspi, Richelle, Maduro, Quino L., Masiello, Catherine A., McDowell, Jennifer C., Montemayor, Casandra, Mullikin, James C., Park, Morgan, Riebow, Nancy L., Schandler, Karen, Schmidt, Brian, Sison, Christina, Stantripop, Sirintorn, Thomas, James W., Thomas, Pamela J., Vemulapalli, Meghana, Young, Alice C., Innocenti, Federico, Schuetz, Erin G., Scott, Laura J., Parker, Stephen C.J., Collins, Francis S., Mohlke, Karen L.

“…Identifying the molecular mechanisms by which genome-wide association study (GWAS) loci influence traits remains challenging. Chromatin accessibility…”
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Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes by Malicdan, May Christine V, Vilboux, Thierry, Stephen, Joshi, Maglic, Dino, Mian, Luhe, Konzman, Daniel, Guo, Jennifer, Yildirimli, Deniz, Bryant, Joy, Fischer, Roxanne, Zein, Wadih M, Snow, Joseph, Vemulapalli, Meghana, Mullikin, James C, Toro, Camilo, Solomon, Benjamin D, Niederhuber, John E, Gahl, William A, Gunay-Aygun, Meral

“…In chicken, loss of TALPID3 results in non-functional cilia and short-rib polydactyly syndrome. This phenotype is caused by a frameshift mutation in the…”
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A genome catalog of the early-life human skin microbiome by Shen, Zeyang, Robert, Lukian, Stolpman, Milan, Che, You, Allen, Katrina J, Saffery, Richard, Walsh, Audrey, Young, Angela, Eckert, Jana, Deming, Clay, Chen, Qiong, Conlan, Sean, Laky, Karen, Li, Jenny Min, Chatman, Lindsay, Kashaf, Sara Saheb, Kong, Heidi H, Frischmeyer-Guerrerio, Pamela A, Perrett, Kirsten P, Segre, Julia A

“…Metagenome-assembled genomes have greatly expanded the reference genomes for skin microbiome. However, the current reference genomes are largely based on…”
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Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency by Stephen, Joshi, Vilboux, Thierry, Mian, Luhe, Kuptanon, Chulaluck, Sinclair, Courtney M., Yildirimli, Deniz, Maynard, Dawn M., Bryant, Joy, Fischer, Roxanne, Vemulapalli, Meghana, Mullikin, James C., Huizing, Marjan, Gahl, William A., Malicdan, May Christine V., Gunay-Aygun, Meral

“…Joubert syndrome and related disorders (JSRD) are a heterogeneous group of ciliopathies defined based on the mid-hindbrain abnormalities that result in the…”
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Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot by Sapp, Julie C., Johnston, Jennifer J., Driscoll, Kate, Heidlebaugh, Alexis R., Miren Sagardia, Ane, Dogbe, D. Nadine, Umstead, Kendall L., Turbitt, Erin, Alevizos, Ilias, Baron, Jeffrey, Bönnemann, Carsten, Brooks, Brian, Donkervoort, Sandra, Jee, Youn Hee, Linehan, W. Marston, McMahon, Francis J., Moss, Joel, Mullikin, James C., Nielsen, Deborah, Pelayo, Eileen, Remaley, Alan T., Siegel, Richard, Su, Helen, Zarate, Carlos, Barnabas, Beatrice B., Bouffard, Gerard G., Brooks, Shelise Y., Coleman, Holly, Dekhtyar, Lyudmila, Guan, Xiaobin, Han, Joel, Ho, Shi-ling, Legaspi, Richelle, Maduro, Quino L., Masiello, Catherine A., McDowell, Jennifer C., Montemayor, Casandra, Park, Morgan, Riebow, Nancy L., Schandler, Karen, Scharer, Chanthra, Schmidt, Brian, Sison, Christina, Stantripop, Sirintorn, Thomas, James W., Thomas, Pamela J., Vemulapalli, Meghana, Young, Alice C., Manolio, Teri A., Biesecker, Barbara B., Biesecker, Leslie G.

“…While consensus regarding the return of secondary genomic findings in the clinical setting has been reached, debate about such findings in the research setting…”
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DNA methylation in mice is influenced by genetics as well as sex and life experience by Grimm, Sara A., Shimbo, Takashi, Takaku, Motoki, Thomas, James W., Auerbach, Scott, Bennett, Brian D., Bucher, John R., Burkholder, Adam B., Day, Frank, Du, Ying, Duncan, Christopher G., French, John E., Foley, Julie F., Li, Jianying, Merrick, B. Alex, Tice, Raymond R., Wang, Tianyuan, Xu, Xiaojiang, Bushel, Pierre R., Fargo, David C., Mullikin, James C., Wade, Paul A.

“…DNA methylation is an essential epigenetic process in mammals, intimately involved in gene regulation. Here we address the extent to which genetics, sex, and…”
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Roving methyltransferases generate a mosaic epigenetic landscape and influence evolution in Bacteroides fragilis group by Tisza, Michael J., Smith, Derek D. N., Clark, Andrew E., Youn, Jung-Ho, Khil, Pavel P., Dekker, John P.

“…Three types of DNA methyl modifications have been detected in bacterial genomes, and mechanistic studies have demonstrated roles for DNA methylation in…”
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