A Defined Zebrafish Line for High-Throughput Genetics and Genomics: NHGRI-1

Por LaFave, Matthew C., Varshney, Gaurav K., Vemulapalli, Meghana, Mullikin, James C., Burgess, Shawn M.
Publicado em 2014

The Transcription Factors Ets1 and Sox10 Interact During Murine Melanocyte Development

Por Saldana-Caboverde, Amy, Perera, Erasmo M., Watkins-Chow, Dawn, Hansen, Nancy F., Vemulapalli, Meghana, Mullikin, James C, Pavan, William J., Kos, Lidia
Publicado no Dev Biol (2015)

Ethnicity of Patients With Germline GCM2-Activating Variants and Primary Hyperparathyroidism

Por Guan, Bin, Welch, James M., Vemulapalli, Meghana, Li, Yulong, Ling, Hua, Kebebew, Electron, Simonds, William F., Marx, Stephen J., Agarwal, Sunita K.
Publicado no J Endocr Soc (2017)

A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families

Por 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.
Publicado no Hum Mutat (2017)

Assessing the Spectrum of Germline Variation in Fanconi Anemia Genes among Patients with Head and Neck Carcinoma before Age 50

Por 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.
Publicado no Cancer (2017)

Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency

Por 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
Publicado no Hum Genet (2017)

Characteristics of liver disease in 100 Individuals with Joubert syndrome prospectively evaluated at a single center

Por Strongin, Anna, Heller, Theo, Doherty, Dan, Glass, Ian A., Parisi, Melissa A., Bryant, Joy, Choyke, Peter, Turkbey, Baris, Daryanani, Kailash, Yildirimli, Deniz, Vemulapalli, Meghana, Mullikin, Jim C., Malicdan, May C., Vilboux, Thierry, Gahl, William A., Gunay-Aygun, Meral
Publicado no J Pediatr Gastroenterol Nutr (2018)

Neuropsychological Phenotypes of 76 Individuals with Joubert Syndrome evaluated at a Single Center

Por Summers, Angela C., Snow, Joseph, Wiggs, Edythe, Liu, Alexander G., Toro, Camilo, Poretti, Andrea, Zein, Wadih M., Brooks, Brian P., Parisi, Melissa A., Inati, Sara, Doherty, Dan, Vemulapalli, Meghana, Mullikin, Jim C., Vilboux, Thierry, Gahl, William A., Gunay-Aygun, Meral
Publicado no Am J Med Genet A (2017)

Prospective Evaluation of Kidney Disease in Joubert Syndrome

Por 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
Publicado no Clin J Am Soc Nephrol (2017)

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes

Por 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
Publicado no J Med Genet (2015)