フォロー
Meghana Vemulapalli
Meghana Vemulapalli
Bioinformatics Scientist
確認したメール アドレス: nih.gov
タイトル
引用先
引用先
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
T Vilboux, DA Doherty, IA Glass, MA Parisi, IG Phelps, AR Cullinane, ...
Genetics in Medicine 19 (8), 875-882, 2017
1332017
A defined zebrafish line for high-throughput genetics and genomics: NHGRI-1
MC LaFave, GK Varshney, M Vemulapalli, JC Mullikin, SM Burgess
Genetics 198 (1), 167-170, 2014
1032014
Cell-type–specific eQTL of primary melanocytes facilitates identification of melanoma susceptibility genes
T Zhang, J Choi, MA Kovacs, J Shi, M Xu, AM Goldstein, AJ Trower, ...
Genome research 28 (11), 1621-1635, 2018
852018
Prospective evaluation of kidney disease in Joubert syndrome
LR Fleming, DA Doherty, MA Parisi, IA Glass, J Bryant, R Fischer, ...
Clinical journal of the American Society of Nephrology 12 (12), 1962-1973, 2017
822017
Dysbiosis in epizootic shell disease of the American lobster (Homarus americanus)
NJ Meres, CC Ajuzie, M Sikaroodi, M Vemulapalli, JD Shields, ...
Journal of Shellfish Research 31 (2), 463-472, 2012
822012
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause
A Poretti, J Snow, AC Summers, A Tekes, TAGM Huisman, N Aygun, ...
Journal of medical genetics 54 (8), 521-529, 2017
672017
Joubert syndrome: ophthalmological findings in correlation with genotype and hepatorenal disease in 99 patients prospectively evaluated at a single center
BP Brooks, WM Zein, AH Thompson, M Mokhtarzadeh, DA Doherty, ...
Ophthalmology 125 (12), 1937-1952, 2018
612018
Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50
SC Chandrasekharappa, SB Chinn, FX Donovan, NI Chowdhury, ...
Cancer 123 (20), 3943-3954, 2017
552017
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes
MCV Malicdan, T Vilboux, J Stephen, D Maglic, L Mian, D Konzman, ...
Journal of medical genetics 52 (12), 830-839, 2015
552015
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families
DC Kimble, FP Lach, SQ Gregg, FX Donovan, EK Flynn, A Kamat, ...
Human mutation 39 (2), 237-254, 2018
542018
Dosage compensation and DNA methylation landscape of the X chromosome in mouse liver
CG Duncan, SA Grimm, DL Morgan, PR Bushel, BD Bennett, JD Roberts, ...
Scientific reports 8 (1), 10138, 2018
502018
Evaluation of recipients of positive and negative secondary findings evaluations in a hybrid CLIA-research sequencing pilot
JC Sapp, JJ Johnston, K Driscoll, AR Heidlebaugh, AM Sagardia, ...
The American Journal of Human Genetics 103 (3), 358-366, 2018
452018
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency
J Stephen, T Vilboux, L Mian, C Kuptanon, CM Sinclair, D Yildirimli, ...
Human genetics 136, 399-408, 2017
452017
CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency
T Vilboux, MCV Malicdan, JC Roney, AR Cullinane, J Stephen, ...
American journal of medical genetics Part A 173 (3), 661-666, 2017
442017
Hypoxia‐induced HIF1α targets in melanocytes reveal a molecular profile associated with poor melanoma prognosis
SK Loftus, LL Baxter, JC Cronin, TD Fufa, ...
Pigment cell & melanoma research 30 (3), 339-352, 2017
432017
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center
AC Summers, J Snow, E Wiggs, AG Liu, C Toro, A Poretti, WM Zein, ...
American journal of medical genetics Part A 173 (7), 1796-1812, 2017
382017
Genetic effects on liver chromatin accessibility identify disease regulatory variants
KW Currin, MR Erdos, N Narisu, V Rai, S Vadlamudi, HJ Perrin, JR Idol, ...
The American Journal of Human Genetics 108 (7), 1169-1189, 2021
372021
Ethnicity of Patients With Germline GCM2-Activating Variants and Primary Hyperparathyroidism
B Guan, JM Welch, M Vemulapalli, Y Li, H Ling, E Kebebew, WF Simonds, ...
Journal of the Endocrine Society 1 (5), 488-499, 2017
322017
Characteristics of liver disease in 100 individuals with Joubert syndrome prospectively evaluated at a single center
A Strongin, T Heller, D Doherty, IA Glass, MA Parisi, J Bryant, P Choyke, ...
Journal of pediatric gastroenterology and nutrition 66 (3), 428-435, 2018
312018
Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects
T Vilboux, MCV Malicdan, YM Chang, J Guo, PM Zerfas, J Stephen, ...
Journal of medical genetics 53 (5), 318-329, 2016
302016
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