Resultados de búsqueda - Ruby Liu

P696: Case presentation: Co-segregation of a rare GLA variant of uncertain significance within 2 multiplex families facilitates variant reclassification to pathogenic por Mary Colasanto, Yinghong Pan, Ruby Liu, Christin Collins, Madhuri Hegde

Enlace del recurso

P729: Identification of multiple diagnoses in pediatric patients through genome sequencing por Christin Collins, Fen Guo, Ruby Liu, Yinghong Pan, Mary Colasanto, Madhuri Hegde

Enlace del recurso

P476: Identification and accurate sizing of D4Z4 repeat units in patients suspected of facioscapulohumeral muscular dystrophy (FSHD) using optical genome mapping* por Naga Guruju, Vanessa Jump, Babi Nallamilli, Ruby Liu, Zhiwen Luo, Madhuri Hegde

Enlace del recurso

P631: Genome screening of newborns: What can we find and what’s next?* por Jorune Balciuniene, Ruby Liu, Jonathan Carmichael, Mauro Longoni, Sucheta Bhatt, Madhuri Hegde

Enlace del recurso

P519: Evidence of complex inheritance patterns in limb-girdle and other muscular dystrophies: Synergistic heterozygosity and multigenic inheritance por Madhuri Hegde, Babi Nallamilli, Yinghong Pan, Jagannathan Lakshmanan, Vinish Ramachander, Ruby Liu

Enlace del recurso

P599: Beyond single nucleotide variants and copy number variations: Spinal muscular atrophy and repeat expansion disorders screening by whole genome sequencing por Ruby Liu, Babi Ramesh Reddy Nallamilli, Christin Collins, Lora Bean, Madhuri Hegde

Enlace del recurso

P639: Prenatal diagnosis of Alkuraya-Kučinskas syndrome by exome sequencing por Stephanie Rice, Dante Varotsis, Sascha Wodoslawsky, Elizabeth Critchlow, Ruby Liu, Seth Berger, Huda Al-Kouatly

Enlace del recurso

P502: How does multiomics help variant reclassification? por Ruby Liu, Fen Guo, Babi Ramesh Reddy Nallamilli, Christin Collins, Lora Bean, Naga Guruju, Madhuri Hegde

Enlace del recurso

P651: Genomic breakpoint analysis facilitates the identification of X-chromosomal inversion among molecularly unsolved cases of Duchenne muscular dystrophy por Naga Guruju, Vanessa Jump, Babi Ramesh Reddy Nallamilli, Ruby Liu, Sritha Moram, Christin Collins, Lora Bean, Madhuri Hegde

Enlace del recurso

P638: Genomic breakpoint analysis facilitates identification of complex rearrangements and re-classification of non-tandem duplications in the DMD gene por Naga Guruju, Vanessa Jump, Ruby Liu, Babi Ramesh Reddy Nallamilli, Jill Steigerwalt, Christin Collins, Lora Bean, Madhuri Hegde

Enlace del recurso

P643: Unveiling noncoding DMD variants: Synergizing RNA sequencing and DNA sequencing for enhanced molecular diagnosis por Yinghong Pan, Fen Guo, Zeqiang Ma, Babi Ramesh Reddy Nallamilli, Ruby Liu, Kayla Quirin, Ann Martin, Madhuri Hegde

Enlace del recurso

P730: Genetic basis of dysferlinopathy: A comprehensive analysis of sequence and copy number variants from a large cohort of 686 patients por Babi Ramesh Reddy Nallamilli, Mary Colasanto, Sreyanth Chandra Parupalli, Ruby Liu, Lakshmanan Jagannathan, Arul Joseph Duraisamy, Vinish Ramachander, Supan Dhillon, Madhuri Hegde

Enlace del recurso

P679: Ultrarapid whole genome sequencing facilitates early definitive diagnosis of rare genetic disorders por Babi Ramesh Reddy Nallamilli, Jagannathan Lakshmanan, Vinish Ramachander, Supan Dhillon, Ruby Liu, Yinghong Pan, Naga Guruju, Christin Collins, Lora Bean, Madhuri Hegde

Enlace del recurso

P678: Role of de novo variants in genetic disorders with new insights and clinical implications por Babi Ramesh Reddy Nallamilli, Mary Colasanto, Ruby Liu, Naga Guruju, Lakshmanan Jagannathan, Arul Joseph Duraisamy, Jorune Balciuniene, Xiangwen Chen-Deutsch, Rizwan Yousaf, Christin Collins, Lora Bean, Supan Dhillon, Cristina da Silva, Madhuri Hegde

Enlace del recurso

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

Enlace del recurso

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

Enlace del recurso

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

Enlace del recurso

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

Enlace del recurso