Publications by authors named "Arunkanth Ankala"

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Evolving genetic heterogeneity of facioscapulohumeral muscular dystrophy.
Nicholas E Johnson, Arunkanth Ankala

Neurology· June 2020

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Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants.
Tracy Brandt, Laura M Sack, Dolores Arjona, Duanjun Tan, Hui Mei, Arunkanth Ankala

Genet Med· March 2020

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Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
Tracy Brandt, Laura M Sack, Dolores Arjona, Duanjun Tan, Hui Mei, Arunkanth Ankala

Genet Med· February 2020

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Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
Babi Ramesh Reddy Nallamilli, Samya Chakravorty, Akanchha Kesari, Alice Tanner, Arunkanth Ankala

Ann Clin Transl Neurol· December 2018

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A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 Deficiency.
Andrea Medrano Behlmann, Namita A Goyal, Xiaoyu Yang, Ping H Chen, Arunkanth Ankala

JIMD Rep· December 2018

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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.
Arunkanth Ankala, Nieraj Jain, Baker Hubbard, John J Alexander, Suma P Shankar

Am J Med Genet A· August 2018

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GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A.
Patricia L Hall, Regina Laine, John J Alexander, Arunkanth Ankala, Lisa A Teot

JIMD Rep· May 2017

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Detection of 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.
Rashna Sam Dastur, Pradnya Satish Gaitonde, Munira Kachwala, Babi R R Nallamilli, Arunkanth Ankala

Ann Indian Acad Neurol· January 2017

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Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.
Diana Mandelker, Ryan J Schmidt, Arunkanth Ankala, Kristin McDonald Gibson, Mark Bowser

Genet Med· December 2016

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Response to Saul.
Yuan Xue, Arunkanth Ankala, William R Wilcox, Madhuri R Hegde

Genet Med· September 2015

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Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.
Yuan Xue, Arunkanth Ankala, William R Wilcox, Madhuri R Hegde

Genet Med· June 2015

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Gamut of genetic testing for neonatal care.
Arunkanth Ankala, Madhuri R Hegde

Clin Perinatol· June 2015

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Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish.
Jonathan D Marra, Kristin E Engelstad, Arunkanth Ankala, Kurenai Tanji, Jahannaz Dastgir

Muscle Nerve· May 2015

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A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.
Arunkanth Ankala, Cristina da Silva, Francesca Gualandi, Alessandra Ferlini, Lora J H Bean

Ann Neurol· February 2015

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Genetic variation in dihydropyrimidine dehydrogenase (DPYD) gene in a healthy adult Indian population.
Sandhya N Iyer, Rekha S Singhal, Madhuri R Hegde, Arunkanth Ankala

Ann Hum Biol· January 2015

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Clinical applications and implications of common and founder mutations in Indian subpopulations.
Arunkanth Ankala, Parag M Tamhankar, C Alexander Valencia, Krishna K Rayam, Manisha M Kumar

Hum Mutat· January 2015

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Molecular diagnosis of Duchenne muscular dystrophy.
Babi Ramesh Reddy Nallamilli, Arunkanth Ankala, Madhuri Hegde

Curr Protoc Hum Genet· October 2014

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Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies.
Arunkanth Ankala, Babi R Nallamilli, Laura E Rufibach, Esther Hwang, Madhuri R Hegde

Muscle Nerve· September 2014

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Genetic and epigenetic determinants of low dysferlin expression in monocytes.
Eduard Gallardo, Arunkanth Ankala, Yaiza Núñez-Álvarez, Madhuri Hegde, Jordi Diaz-Manera

Hum Mutat· August 2014

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Genomic technologies and the new era of genomic medicine.
Arunkanth Ankala, Madhuri Hegde

J Mol Diagn· January 2014

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Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.
C Alexander Valencia, Arunkanth Ankala, Devin Rhodenizer, Shruti Bhide, Martin Robert Littlejohn

PLoS One· July 2013

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Determination of common genetic variants in cytidine deaminase (CDA) gene in Indian ethnic population.
Sandhya N Iyer, Arunkanth Ankala, Rekha S Singhal, Madhuri R Hegde

Gene· July 2013

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Ancestral founder mutations in calpain-3 in the Indian Agarwal community: historical, clinical, and molecular perspective.
Arunkanth Ankala, Jordan N Kohn, Rashna Dastur, Pradnya Gaitonde, Satish V Khadilkar

Muscle Nerve· June 2013

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Foliar herbivory triggers local and long distance defense responses in maize.
Arunkanth Ankala, Rowena Y Kelley, Dennis E Rowe, William P Williams, Dawn S Luthe

Plant Sci· February 2013

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Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
Ulrike Schwarze, Tim Cundy, Shawna M Pyott, Helena E Christiansen, Madhuri R Hegde, Arunkanth Ankala

Hum Mol Genet· January 2013

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