Arunkanth Ankala PhD
- Department of Human Genetics
Adjunct Assistant Professor
- (404) 778-7335
- arun.ankala@emory.edu
-
EGL Genetics
2460 Mountain Industrial Boulevard
Tucker, GA 30084
Research
Publications
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TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Am J Med Genet A Volume: 185 Page(s): 2417 - 2433
08/01/2021 Authors: Bowles B; Ferrer A; Nishimura CJ; Pinto E Vairo F; Rey T; Leheup B; Sullivan J; Schoch K; Stong N; Agolini E -
Evolving genetic heterogeneity of facioscapulohumeral muscular dystrophy.
Neurology Volume: 94 Page(s): 1011 - 1012
06/09/2020 Authors: Johnson NE; Ankala A -
Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants.
Genet Med Volume: 22 Page(s): 670 - 671
03/01/2020 Authors: Brandt T; Sack LM; Arjona D; Tan D; Mei H; Cui H; Gao H; Bean LJH; Ankala A; Del Gaudio D -
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
Genet Med Volume: 22 Page(s): 336 - 344
02/01/2020 Authors: Brandt T; Sack LM; Arjona D; Tan D; Mei H; Cui H; Gao H; Bean LJH; Ankala A; Del Gaudio D -
A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 Deficiency.
JIMD Rep Volume: 45 Page(s): 105 - 110
01/01/2019 Authors: Behlmann AM; Goyal NA; Yang X; Chen PH; Ankala A -
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
Ann Clin Transl Neurol Volume: 5 Page(s): 1574 - 1587
12/01/2018 Authors: Nallamilli BRR; Chakravorty S; Kesari A; Tanner A; Ankala A; Schneider T; da Silva C; Beadling R; Alexander JJ; Askree SH -
Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome.
Am J Med Genet A Volume: 176 Page(s): 1778 - 1783
08/01/2018 Authors: Ankala A; Jain N; Hubbard B; Alexander JJ; Shankar SP -
GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A.
JIMD Rep Volume: 38 Page(s): 61 - 65
01/01/2018 Authors: Hall PL; Laine R; Alexander JJ; Ankala A; Teot LA; Lidov HGW; Anselm I -
Detection of Dysferlin Gene Pathogenic Variants in the Indian Population in Patients Predicted to have a Dysferlinopathy Using a Blood-based Monocyte Assay and Clinical Algorithm: A Model for Accurate and Cost-effective Diagnosis.
Ann Indian Acad Neurol Volume: 20 Page(s): 302 - 308
01/01/2017 Authors: Dastur RS; Gaitonde PS; Kachwala M; Nallamilli BRR; Ankala A; Khadilkar SV; Atchayaram N; Gayathri N; Meena AK; Rufibach L -
Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.
Genet Med Volume: 18 Page(s): 1282 - 1289
12/01/2016 Authors: Mandelker D; Schmidt RJ; Ankala A; McDonald Gibson K; Bowser M; Sharma H; Duffy E; Hegde M; Santani A; Lebo M