Lora J. H. Bean

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论文共 146 篇作者统计合作学者相似作者

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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

Jorune Balciuniene,Ruby Liu,Lora Bean,Babi Ramesh Reddy Nallamilli,Naga Guruju,Xiangwen Chen-Deutsch,Rizwan Yousaf,Kristina Fura,Eprem Chin,Abhinav Mathur,Zeqiang Ma, Jonathan Carmichael,Christin Collins,Cristina da Silva, Brian Kirmse, Steven Bleyl,Madhuri Hegde

Genetics in Medicine Open (2024): 101618

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Points to Consider in the Reevaluation and Reanalysis of Genomic Test Results: A Statement of the American College of Medical Genetics and Genomics (ACMG) (vol 21, Pg 1267, 2019)

Honey Reddi,Matthew R. Avenarius,Lora J. H. Bean,Hunter Best,Saurav Guha, Benjamin E. Kang,Curt Scharfe,Bryce A. Seifert,Erin Wakeling

GENETICS IN MEDICINEno. 5 (2024)

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P599: Beyond Single Nucleotide Variants and Copy Number Variations: Spinal Muscular Atrophy and Repeat Expansion Disorders Screening by Whole Genome Sequencing

Ruby Liu,Babi Ramesh Reddy Nallamilli,Christin Collins,Lora Bean,Madhuri Hegde

Genetics in Medicine Open (2024): 101505

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Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Sub-Continent

Arul J. Duraisamy,Ruby Liu,Shruti Sureshkumar,Rajiv Rose,Lakshmanan Jagannathan,Cristina da Silva,Adam Coovadia,Vinish Ramachander,Sathyapriya Chandrasekar, Indu Raja, Manisha Sajnani, Sreekanth M. Selvaraj, Bhuvandeep Narang, Katayoon Darvishi, Amar C. Bhayal, Lavanya Katikala,Fen Guo,Xiangwen Chen-Deutsch,Jorune Balciuniene,Zeqiang Ma,Babi R. R. Nallamilli,Lora Bean,Christin Collins,Madhuri Hegde

JOURNAL OF MOLECULAR DIAGNOSTICS（2024）

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P638: Genomic Breakpoint Analysis Facilitates Identification of Complex Rearrangements and Re-Classification of Non-Tandem Duplications in the DMD Gene

Naga Guruju,Vanessa Jump,Ruby Liu,Babi Ramesh Reddy Nallamilli, Jill Steigerwalt,Christin Collins,Lora Bean,Madhuri Hegde

Genetics in Medicine Open (2024): 101544

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Addendum: Points to Consider in the Reevaluation and Reanalysis of Genomic Test Results: A Statement of the American College of Medical Genetics and Genomics (ACMG)

Honey V. Reddi,Matthew R. Avenarius,Lora J.H. Bean,Hunter Best,Saurav Guha, Benjamin E. Kang,Curt Scharfe,Bryce A. Seifert,Erin Wakeling

Genetics in Medicinepp.101100, (2024)

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Evidence from 2100 Index Cases Supports Genome Sequencing As a First-Tier Genetic Test

Fen Guo,Ruby Liu,Yinghong Pan,Christin Collins,Lora Bean,Zeqiang Ma,Abhinav Mathur,Cristina Da Silva,Babi Nallamilli,Naga Guruju,Xiangwen Chen-Deutsch,Rizwan Yousaf,Ephrem Chin,Jorune Balciuniene,Madhuri Hegde

GENETICS IN MEDICINEno. 1 (2024)

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Myotonic Dystrophy Type 1 Testing, 2024 Revision: A Technical Standard of the American College of Medical Genetics and Genomics (ACMG)

Bryce A. Seifert,Honey Reddi, Benjamin E. Kang,Lora J. H. Bean,Amy Shealy,Nancy C. Rose

Genetics in Medicineno. 8 (2024): 101145-101145

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P679: Ultrarapid Whole Genome Sequencing Facilitates Early Definitive Diagnosis of Rare Genetic Disorders

Babi Ramesh Reddy Nallamilli,Jagannathan Lakshmanan,Vinish Ramachander, Supan Dhillon,Ruby Liu,Yinghong Pan,Naga Guruju,Christin Collins,Lora Bean,Madhuri Hegde

Genetics in Medicine Open (2024): 101583

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P389: Real-world Evidence Demonstrating Why Genome Sequencing Should Be Recommended As the First-Tier Genetic Test*

Fen Guo,Ruby Liu,Yinghong Pan,Christin D. Collins,Lora Bean,Babi Ramesh Reddy Nallamilli,Naga Guruju,Xiangwen Chen-Deutsch,Rizwan Yousaf,Ephrem Chin,Cristina da Silva,Abhinav Mathur,Zeqiang Ma,Jorune Balciuniene,Madhuri Hegde

Genetics in Medicine Openno. 1 (2023): 100425-100425

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论文共 146 篇作者统计合作学者相似作者