| Expanding the boundaries of RNA sequencing as a diagnostic tool for rare Mendelian disease HD Gonorazky, S Naumenko, AK Ramani, V Nelakuditi, P Mashouri, ... The American Journal of Human Genetics 104 (3), 466-483, 2019 | 256 | 2019 |
| Frequency of germline mutations in cancer susceptibility genes in malignant mesothelioma V Panou, M Gadiraju, A Wolin, CM Weipert, E Skarda, AN Husain, ... Journal of Clinical Oncology 36 (28), 2863-2871, 2018 | 201 | 2018 |
| Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach G Alkorta-Aranburu, D Carmody, YW Cheng, V Nelakuditi, L Ma, ... Molecular genetics and metabolism 113 (4), 315-320, 2014 | 115 | 2014 |
| A computational genomics pipeline for prokaryotic sequencing projects AO Kislyuk, LS Katz, S Agrawal, MS Hagen, AB Conley, P Jayaraman, ... Bioinformatics 26 (15), 1819-1826, 2010 | 79 | 2010 |
| Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes M Sun, AK Johnson, V Nelakuditi, L Guidugli, D Fischer, K Arndt, L Ma, ... Genetics in Medicine 21 (1), 195-206, 2019 | 77 | 2019 |
| Supercomputing for the parallelization of whole genome analysis MJ Puckelwartz, LL Pesce, V Nelakuditi, L Dellefave-Castillo, JR Golbus, ... Bioinformatics 30 (11), 1508-1513, 2014 | 72 | 2014 |
| Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes L Guidugli, AK Johnson, G Alkorta-Aranburu, V Nelakuditi, K Arndt, ... Leukemia 31 (5), 1226-1229, 2017 | 70 | 2017 |
| Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals KL Yap, AEK Johnson, D Fischer, P Kandikatla, J Deml, V Nelakuditi, ... Genetics in Medicine 21 (1), 233-242, 2019 | 63* | 2019 |
| Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy JR Golbus, MJ Puckelwartz, L Dellefave-Castillo, JP Fahrenbach, ... Circulation: Cardiovascular Genetics 7 (6), 751-759, 2014 | 63 | 2014 |
| Characterization of patients referred for non‐specific intellectual disability testing: the importance of autosomal genes for diagnosis CA Tan, S Topper, D Del Gaudio, V Nelakuditi, O Shchelochkov, ... Clinical genetics 89 (4), 478-483, 2016 | 22 | 2016 |
| Neisseria Base: a comparative genomics database for Neisseria meningitidis LS Katz, JC Humphrey, AB Conley, V Nelakuditi, AO Kislyuk, S Agrawal, ... Database 2011, bar035, 2011 | 14 | 2011 |
| OCHROdb: a comprehensive, quality checked database of open chromatin regions from sequencing data P Shooshtari, S Feng, V Nelakuditi, J Foong, M Brudno, C Cotsapas BioRxiv, 484840, 2018 | 5 | 2018 |
| Identification of genetic hereditary predisposition to hematologic malignancies by clinical next-generation sequencing AEK Johnson, L Guidugli, K Arndt, G Alkorta-Aranburu, V Nelakuditi, ... Blood 126 (23), 3854, 2015 | 2 | 2015 |
| FORCAST: a fully integrated and open source pipeline to design Cas-mediated mutagenesis experiments H Elrick, V Nelakuditi, G Clark, M Brudno, AK Ramani, LMJ Nutter bioRxiv, 2020.04. 21.053090, 2020 | 1 | 2020 |
| A computational genomics pipeline for microbial sequencing projects AO Kislyuk, LS Katz, S Agrawal, MS Hagen, AB Conley, P Jayaraman, ... | 1 | 2005 |
| Developing OCHROdb, a comprehensive quality checked database of open chromatin regions from sequencing data P Shooshtari, S Feng, V Nelakuditi, R Asakereh, N Hosseini Naghavi, ... Scientific Reports 13 (1), 8106, 2023 | | 2023 |
| Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals (vol 21, pg 262, 2019) KL Yap, AEK Johnson, D Fischer, P Kandikatla, J Deml, V Nelakuditi, ... GENETICS IN MEDICINE 21 (1), 262-265, 2019 | | 2019 |
| Improved Diagnosis for Familial Myelodysplastic Syndromes and Acute Leukemia Using Next-generation Sequencing and Splicing Analysis L Guidugli, AK Johnson, G Alkorta-Aranburu, V Nelakuditi, K Arndt, ... JOURNAL OF MOLECULAR DIAGNOSTICS 17 (6), 772-772, 2015 | | 2015 |
