Search Results - "Vidal Folch, Noemi"

m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity by Klein Gunnewiek, Teun M., Van Hugte, Eline J.H., Frega, Monica, Guardia, Gemma Solé, Foreman, Katharina, Panneman, Daan, Mossink, Britt, Linda, Katrin, Keller, Jason M., Schubert, Dirk, Cassiman, David, Rodenburg, Richard, Vidal Folch, Noemi, Oglesbee, Devin, Perales-Clemente, Ester, Nelson, Timothy J., Morava, Eva, Nadif Kasri, Nael, Kozicz, Tamas

“…Epilepsy, intellectual and cortical sensory deficits, and psychiatric manifestations are the most frequent manifestations of mitochondrial diseases. How…”
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Aminoglycoside induced ototoxicity risk in the cystic fibrosis population: The utility of large‐scale screening by Lopes, Jaime, Vidal‐Folch, Noemi, Lundquist, Patrick, Schimmenti, Lisa A., Demirel, Nadir, Dean, Vicki, Olson, Janelle, Auth, Tom, Butz, Malinda, Reed, Katelyn, Wylam, Mark, Balcom, Jessica, Boczek, Nicole J., Hasadsri, Linda

“…Background MT‐RNR1 variants are a well‐known cause of aminoglycoside‐induced hearing loss (AIHL). Individuals with cystic fibrosis (CF) routinely receive…”
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Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature by Poskanzer, Sheri A., Schultz, Matthew J., Turgeon, Coleman T., Vidal‐Folch, Noemi, Liedtke, Kris, Oglesbee, Devin, Gavrilov, Dimitar K., Tortorelli, Silvia, Matern, Dietrich, Rinaldo, Piero, Bennett, James T., Thies, Jenny M., Chang, Irene J., Beck, Anita E., Raymond, Kimiyo, Allenspach, Eric J., Lam, Christina

“…Glycosylation is a critical post/peri‐translational modification required for the appropriate development and function of the immune system. As an example,…”
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Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy by Vidal-Folch, Noemi, Gavrilov, Dimitar, Raymond, Kimiyo, Rinaldo, Piero, Tortorelli, Silvia, Matern, Dietrich, Oglesbee, Devin

“…Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder with neuronal degeneration leading to muscular atrophy and respiratory failure. SMA is…”
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A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease by Oliver, Gavin R, Tang, Xiaojia, Schultz-Rogers, Laura E, Vidal-Folch, Noemi, Jenkinson, W Garrett, Schwab, Tanya L, Gaonkar, Krutika, Cousin, Margot A, Nair, Asha, Basu, Shubham, Chanana, Pritha, Oglesbee, Devin, Klee, Eric W

“…RNA sequencing has been proposed as a means of increasing diagnostic rates in studies of undiagnosed rare inherited disease. Recent studies have reported…”
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SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts by Cook, Sara L, Stout, Christian, Kirkeby, Lindsey, Vidal-Folch, Noemi, Oglesbee, Devin, Hasadsri, Linda, Selcen, Duygu, Milone, Margherita, Anderson, Daniel, Staff, Nathan P

“…Spinal muscular atrophy (SMA) is caused by homozygous loss of the gene with gene copy number correlating with disease severity. Rarely SMA is caused by a…”
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P444: SMA carrier screening utilizing SNP array technology and confirmatory ddPCR reveals an isolated SMN1 exon 8 deletion by Vidal-Folch, Noemi, Winters, Jennifer, Oglesbee, Devin, Hasadsri, Linda, Cook, Sara

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Rapid and Direct Detection of Congenital Cytomegalovirus Using a Commercial Real-Time PCR Assay by Fernholz, Emily C, Vidal-Folch, Noemi, Hasadsri, Linda

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Applying Standard Clinical Chemistry Assay Validation to Droplet Digital PCR Quantitative Liquid Biopsy Testing by Milosevic, Dragana, Mills, John R, Campion, Michael B, Vidal-Folch, Noemi, Voss, Jesse S, Halling, Kevin C, Highsmith, W Edward, Liu, Minetta C, Kipp, Benjamin R, Grebe, Stefan K G

“…Droplet digital PCR (ddPCR) is an emerging technology for quantitative cell-free DNA oncology applications. However, assay performance criteria must be…”
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Applications of Digital PCR in Clinical Diagnostics by Vidal-Folch, Noemi

“…Genetic testing has become increasingly relevant to advanced precision medicine for carrier screening, genetic susceptibility, and molecular diagnosis of human…”
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Confirmation of Insertion, Deletion, and Deletion-Insertion Variants Detected by Next-Generation Sequencing by Choate, Lauren A, Koleilat, Alaa, Harris, Kimberley, Vidal-Folch, Noemi, Guenzel, Adam, Newman, Jessica, Peterson, Brenda J, Peterson, Sandra E, Rice, Christopher S, Train, Laura J, Hasadsri, Linda, Marcou, Cherisse A, Moyer, Ann M, Baudhuin, Linnea M

“…Abstract Background Despite clinically demonstrated accuracy in next generation sequencing (NGS) data, many clinical laboratories continue to confirm variants…”
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eP386 - Unbiased machine learning methods to predict the limitations of variant calling in homologous genomic regions using next-generation sequencing by Li, Feng, Gnanaolivu, Rohan, Vidal-Folch, Noemi, Saha, Neiladri, Mistry, Nipun, Blake, Emily, Niu, Zhiyv (Neal), McClelland, Shawn, Oglesbee, Devin, Wang, Chen

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Unbiased machine learning methods to predict the limitations of variant calling in homologous genomic regions using next-generation sequencing by Li, Feng, Gnanaolivu, Rohan, Vidal-Folch, Noemi, Saha, Neiladri, Mistry, Nipun, Blake, Emily, Niu, Zhiyv (Neal), McClelland, Shawn, Oglesbee, Devin, Wang, Chen

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A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening by Vidal-Folch, Noemi, Milosevic, Dragana, Majumdar, Ramanath, Gavrilov, Dimitar, Matern, Dietrich, Raymond, Kimiyo, Rinaldo, Piero, Tortorelli, Silvia, Abraham, Roshini S., Oglesbee, Devin

“…Severe combined immunodeficiency (SCID) benefits from early intervention via hematopoietic cell transplantation to reverse T-cell lymphopenia (TCL). Newborn…”
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Predicting Prognosis in CPEO With mtDNA Deletions: A Case Demonstrating the Advantages of Measuring Heteroplasmy With Novel Droplet Digital Polymerase Chain Reaction Testing by Lambert-Cheatham, Nathan A., Tessema, Sophia T., Subei, Obada, Sakuru, Ragha C., Fullmer, Matthew D., Selner, Elizabeth M., Vidal-Folch, Noemi, Chang, Howard T., Hasadsri, Linda, Kaufman, David I.

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Individualized correction of neuron-specific enolase (NSE) measurement in hemolyzed serum samples by Tolan, Nicole V., Vidal-Folch, Noemi, Algeciras-Schimnich, Alicia, Singh, Ravinder J., Grebe, Stefan K.G.

“…Accuracy of serum neuron-specific enolase (NSE) measurement is paramount, particularly in the context of neurological outcome prognostication. However, NSE…”
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30. A cost-effective bioinformatics triage strategy for testing PMS2 using short-read next generation sequencing by Shen, Wei, Koganti, Tejaswi, Balan, Jagadheshwar, Tandale, Pratyush, Basu, Shubham, Manninen, Matthew, Blake, Emily, Gnanaolivu, Rohan, Mistry, Nipun, Li, Feng, Roellinger, Samantha, Vidal-Folch, Noemi, Fritcher, Emily Barr, Voss, Jesse, Wang, Chen, Halling, Kevin, Kipp, Benjamin, Gupta, Sounak

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Development and validation of a comprehensive mutation and deletion detection assay for SDHB, SDHC, and SDHD by Milosevic, Dragana, Lundquist, Patrick, Cradic, Kendall, Vidal-Folch, Noemi, Huynh, ThanhTruc, Pacak, Karel, Grebe, Stefan K.G.

“…Lack of sequencing validation and complexity of deletion testing hinder genetic diagnosis of SDH-associated paraganglioma/pheochromocytoma. We developed…”
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Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature by Poskanzer, Sheri A, Schultz, Matthew J, Turgeon, Coleman T, Vidal-Folch, Noemi, Liedtke, Kris, Oglesbee, Devin, Gavrilov, Dimitar K, Tortorelli, Silvia, Matern, Dietrich, Rinaldo, Piero, Bennett, James T, Thies, Jenny M, Chang, Irene J, Beck, Anita E, Raymond, Kimiyo, Allenspach, Eric J, Lam, Christina

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