Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping
Guruju, Naga M., Jump, Vanessa, Lemmers, Richard, Van Der Maarel, Silvere, Liu, Ruby, Nallamilli, Babi R., Shenoy, Suresh, Chaubey, Alka, Koppikar, Pratik, Rose, Rajiv, Khadilkar, Satish, Hegde, Madhuri
Published in Neurology. Genetics (01.12.2023)
Published in Neurology. Genetics (01.12.2023)
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P476: Identification and accurate sizing of D4Z4 repeat units in patients suspected of facioscapulohumeral muscular dystrophy (FSHD) using optical genome mapping
Guruju, Naga, Jump, Vanessa, Nallamilli, Babi, Liu, Ruby, Luo, Zhiwen, Hegde, Madhuri
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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P638: Genomic breakpoint analysis facilitates identification of complex rearrangements and re-classification of non-tandem duplications in the DMD gene
Guruju, Naga, Jump, Vanessa, Liu, Ruby, Reddy Nallamilli, Babi Ramesh, Steigerwalt, Jill, Collins, Christin, Bean, Lora, Hegde, Madhuri
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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P502: How does multiomics help variant reclassification?
Liu, Ruby, Guo, Fen, Reddy Nallamilli, Babi Ramesh, Collins, Christin, Bean, Lora, Guruju, Naga, Hegde, Madhuri
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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P679: Ultrarapid whole genome sequencing facilitates early definitive diagnosis of rare genetic disorders
Nallamilli, Babi Ramesh Reddy, Lakshmanan, Jagannathan, Ramachander, Vinish, Dhillon, Supan, Liu, Ruby, Pan, Yinghong, Guruju, Naga, Collins, Christin, Bean, Lora, Hegde, Madhuri
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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P714: Genome screening of newborns: Sequencing is easy, assessing the clinical utility of genomic findings uncovered in asymptomatic children is challenging
Balciuniene, Jorune, Liu, Ruby, Bean, Lora, Reddy Nallamilli, Babi Ramesh, Guruju, Naga, Chen-Deutsch, Xiangwen, Yousaf, Rizwan, Fura, Kristina, Chin, Eprem, Mathur, Abhinav, Ma, Zeqiang, Carmichael, Jonathan, Collins, Christin, da Silva, Cristina, Kirmse, Brian, Bleyl, Steven, Hegde, Madhuri
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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P389: Real-world evidence demonstrating why genome sequencing should be recommended as the first-tier genetic test
Guo, Fen, Liu, Ruby, Pan, Yinghong, Collins, Christin D., Bean, Lora, Reddy Nallamilli, Babi Ramesh, Guruju, Naga, Chen-Deutsch, Xiangwen, Yousaf, Rizwan, Chin, Ephrem, da Silva, Cristina, Mathur, Abhinav, Ma, Zeqiang, Balciuniene, Jorune, Hegde, Madhuri
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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P425: Unparalleled power of genome sequencing in screening ostensibly healthy newborns and children: Findings from the first real-world dataset
Balciuniene, Jorune, Liu, Ruby, Collins, Christin, Bean, Lora, Guo, Fen, Reddy Nallamilli, Babi Ramesh, Guruju, Naga, Chen-Deutsch, Xiangwen, Yousaf, Rizwan, Fura, Kristina, Chin, Ephrem, da Silva, Cristina, Mathur, Abhinav, Ma, Zeqiang, Hegde, Madhuri
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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P426: Recognizing the promise and potential pitfalls of genomic medicine through routine rapid whole genome sequencing
Bean, Lora, Collins, Christin, Guo, Fen, Balciuniene, Jorune, Chen-Deutsch, Xiangwen, Reddy Nallamilli, Babi Ramesh, Guruju, Naga, Yousaf, Rizwan, Fura, Kristina, Woodman, Amber, Liu, Ruby, Zhang, Jenny, Liebmann, Kate, Gerow, Julia, Chin, Ephrem, Hegde, Madhuri
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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eP356: Exome sequencing expands the sensitivity and specificity of identification of sequence variants and CNVs in phenotypic females with DSD
Guruju, Naga, Nallamilli, Babi Ramesh Reddy, Jump, Vanessa, Collins, Christin, Hegde, Madhuri
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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eP380: Sequencing of entire 2.2 MB DMD gene facilitates diagnostic testing and aids selection of patients for therapeutic intervention
Nallamilli, Babi, Guruju, Naga, Jagannathan, Lakshmanan, Ramachander, Vinish, Bean, Lora, Hegde, Madhuri
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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Testing for Facioscapulohumeral Muscular Dystrophy with Optical Genome Mapping
Koppikar, Pratik, Shenoy, Suresh, Guruju, Naga, Hegde, Madhuri
Published in Current protocols (01.01.2023)
Published in Current protocols (01.01.2023)
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eP469: Improved Vanadis NIPT platform for detection of T13 T18 and T21 and sex chromosome abnormalities
Shenoy, Suresh, Donti, Taraka, Chin, Ephrem, Borandi, P.J., Nara, Ryan, Luo, Zhi Wen, Guruju, Naga, Prenski, Lawrence, Hegde, Madhuri
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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Evidence from 2100 index cases supports genome sequencing as a first-tier genetic test
Guo, Fen, Liu, Ruby, Pan, Yinghong, Collins, Christin, Bean, Lora, Ma, Zeqiang, Mathur, Abhinav, Da Silva, Cristina, Nallamilli, Babi, Guruju, Naga, Chen-Deutsch, Xiangwen, Yousaf, Rizwan, Chin, Ephrem, Balciuniene, Jorune, Hegde, Madhuri
Published in Genetics in medicine (01.01.2024)
Published in Genetics in medicine (01.01.2024)
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eP357: Molecular diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD) using optical genome mapping
Guruju, Naga, Jump, Vanessa, Reddy Nallamilli, Babi Ramesh, Chin, Ephrem, Donti, Taraka, Shenoy, Suresh, Nara, Ryan, Luo, Zhiwen, Collins, Christin, Hegde, Madhuri
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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Parental age and the origin of extra chromosome 21 in Down syndrome
Jyothy, A, Kumar, K S, Mallikarjuna, G N, Babu Rao, V, Uma Devi, B, Sujatha, M, Reddy, P P
Published in Journal of human genetics (01.01.2001)
Published in Journal of human genetics (01.01.2001)
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Molecular Diagnosis of Duchenne Muscular Dystrophy Using Single NGS-Based Assay
Nallamilli, Babi Ramesh Reddy, Guruju, Naga, Jump, Vanessa, Liu, Ruby, Hegde, Madhuri
Published in Current protocols (01.02.2023)
Published in Current protocols (01.02.2023)
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At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children
Balciuniene, Jorune, Liu, Ruby, Bean, Lora, Guo, Fen, Nallamilli, Babi Ramesh Reddy, Guruju, Naga, Chen-Deutsch, Xiangwen, Yousaf, Rizwan, Fura, Kristina, Chin, Ephrem, Mathur, Abhinav, Ma, Zeqiang, Carmichael, Jonathan, da Silva, Cristina, Collins, Christin, Hegde, Madhuri
Published in JAMA network open (03.07.2023)
Published in JAMA network open (03.07.2023)
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