P696: Case presentation: Co-segregation of a rare GLA variant of uncertain significance within 2 multiplex families facilitates variant reclassification to pathogenic

by Mary Colasanto, Yinghong Pan, Ruby Liu, Christin Collins, Madhuri Hegde
Published 2024-01-01

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

by Ruby Liu, Babi Ramesh Reddy Nallamilli, Christin Collins, Lora Bean, Madhuri Hegde
Published 2024-01-01

P476: Identification and accurate sizing of D4Z4 repeat units in patients suspected of facioscapulohumeral muscular dystrophy (FSHD) using optical genome mapping*

by Naga Guruju, Vanessa Jump, Babi Nallamilli, Ruby Liu, Zhiwen Luo, Madhuri Hegde
Published 2023-01-01

P519: Evidence of complex inheritance patterns in limb-girdle and other muscular dystrophies: Synergistic heterozygosity and multigenic inheritance

by Madhuri Hegde, Babi Nallamilli, Yinghong Pan, Jagannathan Lakshmanan, Vinish Ramachander, Ruby Liu
Published 2023-01-01

P729: Identification of multiple diagnoses in pediatric patients through genome sequencing

by Christin Collins, Fen Guo, Ruby Liu, Yinghong Pan, Mary Colasanto, Madhuri Hegde
Published 2024-01-01

P639: Prenatal diagnosis of Alkuraya-Kučinskas syndrome by exome sequencing

by Stephanie Rice, Dante Varotsis, Sascha Wodoslawsky, Elizabeth Critchlow, Ruby Liu, Seth Berger, Huda Al-Kouatly
Published 2023-01-01

P502: How does multiomics help variant reclassification?

by Ruby Liu, Fen Guo, Babi Ramesh Reddy Nallamilli, Christin Collins, Lora Bean, Naga Guruju, Madhuri Hegde
Published 2023-01-01

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

by Naga Guruju, Vanessa Jump, Ruby Liu, Babi Ramesh Reddy Nallamilli, Jill Steigerwalt, Christin Collins, Lora Bean, Madhuri Hegde
Published 2024-01-01

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

by Yinghong Pan, Fen Guo, Zeqiang Ma, Babi Ramesh Reddy Nallamilli, Ruby Liu, Kayla Quirin, Ann Martin, Madhuri Hegde
Published 2024-01-01

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

by Babi Ramesh Reddy Nallamilli, Jagannathan Lakshmanan, Vinish Ramachander, Supan Dhillon, Ruby Liu, Yinghong Pan, Naga Guruju, Christin Collins, Lora Bean, Madhuri Hegde
Published 2024-01-01

COVCOG 2: Cognitive and Memory Deficits in Long COVID: A Second Publication From the COVID and Cognition Study

by Panyuan Guo, Alvaro Benito Ballesteros, Sabine P. Yeung, Ruby Liu, Arka Saha, Lyn Curtis, Muzaffer Kaser, Muzaffer Kaser, Mark P. Haggard, Lucy G. Cheke
Published 2022-03-01

COVCOG 1: Factors Predicting Physical, Neurological and Cognitive Symptoms in Long COVID in a Community Sample. A First Publication From the COVID and Cognition Study

by Panyuan Guo, Alvaro Benito Ballesteros, Sabine P. Yeung, Ruby Liu, Arka Saha, Lyn Curtis, Muzaffer Kaser, Muzaffer Kaser, Mark P. Haggard, Lucy G. Cheke
Published 2022-03-01

P425: Unparalleled power of genome sequencing in screening ostensibly healthy newborns and children: Findings from the first real-world dataset

by Jorune Balciuniene, Ruby Liu, Christin Collins, Lora Bean, Fen Guo, Babi Ramesh Reddy Nallamilli, Naga Guruju, Xiangwen Chen-Deutsch, Rizwan Yousaf, Kristina Fura, Ephrem Chin, Cristina da Silva, Abhinav Mathur, Zeqiang Ma, Madhuri Hegde
Published 2023-01-01

P426: Recognizing the promise and potential pitfalls of genomic medicine through routine rapid whole genome sequencing

by Lora Bean, Christin Collins, Fen Guo, Jorune Balciuniene, Xiangwen Chen-Deutsch, Babi Ramesh Reddy Nallamilli, Naga Guruju, Rizwan Yousaf, Kristina Fura, Amber Woodman, Ruby Liu, Jenny Zhang, Kate Liebmann, Julia Gerow, Ephrem Chin, Madhuri Hegde
Published 2023-01-01

P389: Real-world evidence demonstrating why genome sequencing should be recommended as the first-tier genetic test*

by 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
Published 2023-01-01

P714: Genome screening of newborns: Sequencing is easy, assessing the clinical utility of genomic findings uncovered in asymptomatic children is challenging

by 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
Published 2024-01-01