Lora Bean

P651: Genomic breakpoint analysis facilitates the identification of X-chromosomal inversion among molecularly unsolved cases of Duchenne muscular dystrophy

Naga Guruju, Vanessa Jump, Babi Ramesh Reddy Nallamilli, Ruby Liu et autres

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

Ruby Liu, Fen Guo, Babi Ramesh Reddy Nallamilli, Christin Collins et autres

ie, us (code pays fourni par la source)

eP321: Extending and adapting the functions of genetic laboratories in the continuing COVID pandemic–challenges and successes

Lora Bean, Adam Rosendorff, Stephanie Dallaire, Eprem Chin et autres

ie, us (code pays fourni par la source)

eP380: Sequencing of entire 2.2 MB DMD gene facilitates diagnostic testing and aids selection of patients for therapeutic intervention

Babi Ramesh Reddy Nallamilli, Naga Guruju, Lakshmanan Jagannathan, Vinish Ramachander et autres

ie, us (code pays fourni par la source)

Recommendations by the ClinGen Rett/Angelman-like Expert Panel for Gene-specific Variant Interpretation Methods

Dianalee McKnight, Lora Bean, Izabela Karbassi, Katelynn Beattie et autres

The genes MECP2, CDKL5, FOXG1, UBE3A, SLC9A6, and TCF4 present unique challenges for current ACMG/AMP variant interpretation guidelines. To address those challenges, the Rett and Angelman-like Disorders Variant Curation Expert Panel (Rett/AS VCEP) drafted gene-specific modifications. A pilot study was conducted to …

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