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Dominov, Janice A. [Author]; Uyan, Özgün [Author]; McKenna‐Yasek, Diane [Author]; Nallamilli, Babi Ramesh Reddy [Author]; Kergourlay, Virginie [Author]; Bartoli, Marc [Author]; Levy, Nicolas [Author]; Hudson, Judith [Author]; Evangelista, Teresinha [Author]; Lochmüller, Hanns [Author]; Krahn, Martin [Author]; Rufibach, Laura [Author]; Hegde, Madhuri [Author]; Brown, Robert H. [Author]

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

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Chichester [u.a.]: Wiley, 2019

Published in: Annals of clinical and translational neurology ; 6, 4 (2019), 642-654
Nallamilli, Babi Ramesh Reddy; Hegde, Madhuri

Detecting APC Gene Mutations in Familial Adenomatous Polyposis (FAP)

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Wiley, 2017

Published in: Current Protocols in Human Genetics, 92 (2017) 1
Nallamilli, Babi Ramesh Reddy; Hegde, Madhuri

Genetic Testing for Hereditary Nonpolyposis Colorectal Cancer (HNPCC)

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Wiley, 2017

Published in: Current Protocols in Human Genetics, 94 (2017) 1
Nallamilli, Babi Ramesh Reddy; Ankala, Arunkanth; Hegde, Madhuri

Molecular Diagnosis of Duchenne Muscular Dystrophy

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Wiley, 2014

Published in: Current Protocols in Human Genetics, 83 (2014) 1
Li, Guosheng; Nallamilli, Babi Ramesh Reddy; Tan, Feng; Peng, Zhaohua

Removal of high‐abundance proteins for nuclear subproteome studies in rice (Oryza sativa) endosperm

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Wiley, 2008

Published in: ELECTROPHORESIS, 29 (2008) 3, Seite 604-617
Ruby Liu; Babi Ramesh Reddy Nallamilli; Christin Collins; Lora Bean; Madhuri Hegde

P599: Beyond single nucleotide variants and copy number variations: Spinal muscular atrophy and repeat expansion disorders screening by whole genome sequencing

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2024

Published in: Genetics in Medicine Open, 2 (2024)
Guruju, Naga; Nallamilli, Babi Ramesh Reddy; Jump, Vanessa; Collins, Christin; Hegde, Madhuri

eP356: Exome sequencing expands the sensitivity and specificity of identification of sequence variants and CNVs in phenotypic females with DSD

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Elsevier BV, 2022

Published in: Genetics in Medicine, 24 (2022) 3, Seite S223-S224
Nallamilli, Babi Ramesh Reddy; Guruju, Naga; Jump, Vanessa; Liu, Ruby; Hegde, Madhuri

Molecular Diagnosis of Duchenne Muscular Dystrophy Using Single NGS‐Based Assay

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Wiley, 2023

Published in: Current Protocols, 3 (2023) 2
Ruby Liu; Fen Guo; Babi Ramesh Reddy Nallamilli; Christin Collins; Lora Bean; Naga Guruju; Madhuri Hegde

P502: How does multiomics help variant reclassification?

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2023

Published in: Genetics in Medicine Open, 1 (2023) 1
Nallamilli, Babi Ramesh Reddy; Chakravorty, Samya; Kesari, Akanchha; Bean, Lora; Hegde, Madhuri

Reply: Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy

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Wiley, 2020

Published in: Annals of Clinical and Translational Neurology, 7 (2020) 12, Seite 2541-2541
Chakravorty, Samya; Ramesh, Babi Nallamilli Reddy; Cheng, Yinwei; Wicklund, Matthew; Harms, Matthew; Mozaffar, Tahseen; Hegde, Madhuri

Genetic landscape of Limb-Girdle Muscular Dystrophies from a Large Cohort of Neuromuscular Disease Patients (S42.002)

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Ovid Technologies (Wolters Kluwer Health), 2017

Published in: Neurology, 88 (2017) 16_supplement
Mujahid, Hana; Tan, Feng; Zhang, Jian; Nallamilli, Babi Ramesh Reddy; Pendarvis, Ken; Peng, Zhaohua

Nuclear proteome response to cell wall removal in rice (Oryza sativa)

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Springer Science and Business Media LLC, 2013

Published in: Proteome Science, 11 (2013) 1
Nallamilli, Babi Ramesh Reddy; Zhang, Jian; Mujahid, Hana; Malone, Brandon M.; Bridges, Susan M.; Peng, Zhaohua

Polycomb Group Gene OsFIE2 Regulates Rice (Oryza sativa) Seed Development and Grain Filling via a Mechanism Distinct from Arabidopsis

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Public Library of Science (PLoS), 2013

Published in: PLoS Genetics, 9 (2013) 3, Seite e1003322
Naga Guruju; Vanessa Jump; Ruby Liu; Babi Ramesh Reddy Nallamilli; Jill Steigerwalt; Christin Collins; Lora Bean; Madhuri Hegde

P638: Genomic breakpoint analysis facilitates identification of complex rearrangements and re-classification of non-tandem duplications in the DMD gene

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2024

Published in: Genetics in Medicine Open, 2 (2024)
Yinghong Pan; Fen Guo; Zeqiang Ma; Babi Ramesh Reddy Nallamilli; Ruby Liu; Kayla Quirin; Ann Martin; Madhuri Hegde

P643: Unveiling noncoding DMD variants: Synergizing RNA sequencing and DNA sequencing for enhanced molecular diagnosis

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2024

Published in: Genetics in Medicine Open, 2 (2024)
Liu, Ruby; Guo, Fen; Reddy Nallamilli, Babi Ramesh; Collins, Christin; Bean, Lora; Wang, Yang; Guruju, Naga; Hedge, Madhuri

eP371: A diverse set of case presentation highlight the power of genome sequencing – What next?

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Elsevier BV, 2022

Published in: Genetics in Medicine, 24 (2022) 3, Seite S234
Nallamilli, Babi Ramesh Reddy; Edelmann, Mariola J.; Zhong, Xiaoxian; Tan, Feng; Mujahid, Hana; Zhang, Jian; Nanduri, Bindu; Peng, Zhaohua

Global Analysis of Lysine Acetylation Suggests the Involvement of Protein Acetylation in Diverse Biological Processes in Rice (Oryza sativa)

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Public Library of Science (PLoS), 2014

Published in: PLoS ONE, 9 (2014) 2, Seite e89283
Babi Ramesh Reddy Nallamilli; Jagannathan Lakshmanan; Vinish Ramachander; Supan Dhillon; Ruby Liu; Yinghong Pan; Naga Guruju; Christin Collins; Lora Bean; Madhuri Hegde

P679: Ultrarapid whole genome sequencing facilitates early definitive diagnosis of rare genetic disorders

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2024

Published in: Genetics in Medicine Open, 2 (2024)
Guruju, Naga; Jump, Vanessa; Reddy Nallamilli, Babi Ramesh; Chin, Ephrem; Donti, Taraka; Shenoy, Suresh; Nara, Ryan; Luo, Zhiwen; Collins, Christin; Hegde, Madhuri

eP357: Molecular diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD) using optical genome mapping

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Elsevier BV, 2022

Published in: Genetics in Medicine, 24 (2022) 3, Seite S224
Chakravorty, Samya; Nallamilli, Babi Ramesh Reddy; Khadilkar, Satish Vasant; Singla, Madhu Bala; Bhutada, Ashish; Dastur, Rashna; Gaitonde, Pradnya Satish; Rufibach, Laura E; Gloster, Logan; Hegde, Madhuri

Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent

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Frontiers Media SA, 2020

Published in: Frontiers in Neurology, 11 (2020)

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