Search Results - "Bean, Lora"

Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG) by Bean, Lora, Funke, Birgit, Carlston, Colleen M., Gannon, Jennifer L., Kantarci, Sibel, Krock, Bryan L., Zhang, Shulin, Bayrak-Toydemir, Pinar

“…Gene sequencing panels are a powerful diagnostic tool for many clinical presentations associated with genetic disorders. Advances in DNA sequencing technology…”
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Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG) by Rehder, Catherine, Bean, Lora J.H., Bick, David, Chao, Elizabeth, Chung, Wendy, Das, Soma, O’Daniel, Julianne, Rehm, Heidi, Shashi, Vandana, Vincent, Lisa M.

“…Next-generation sequencing (NGS) technologies are now established in clinical laboratories as a primary testing modality in genomic medicine. These…”
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A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield by Ankala, Arunkanth, da Silva, Cristina, Gualandi, Francesca, Ferlini, Alessandra, Bean, Lora J. H., Collins, Christin, Tanner, Alice K., Hegde, Madhuri R.

“…Objective Neuromuscular diseases (NMDs) are a group of >200 highly genetically as well as clinically heterogeneous inherited genetic disorders that affect the…”
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An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects by ACKERMAN, Christine, LOCKE, Adam E, REEVES, Roger H, SHERMAN, Stephanie L, MASLEN, Cheryl L, FEINGOLD, Eleanor, RESHEY, Benjamin, ESPANA, Karina, THUSBERG, Janita, MOONEY, Sean, BEAN, Lora J. H, DOOLEY, Kenneth J, CUA, Clifford L

“…About half of people with trisomy 21 have a congenital heart defect (CHD), whereas the remainder have a structurally normal heart, demonstrating that trisomy…”
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Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine by Garber, Kathryn B., Vincent, Lisa M., Alexander, John J., Bean, Lora J.H., Bale, Sherri, Hegde, Madhuri

“…Accurate interpretation of DNA sequence variation is a prerequisite for implementing personalized medicine. Discrepancies in interpretation between testing…”
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Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants by Brandt, Tracy, Sack, Laura M., Arjona, Dolores, Tan, Duanjun, Mei, Hui, Cui, Hong, Gao, Hua, Bean, Lora J. H., Ankala, Arunkanth, Del Gaudio, Daniela, Knight Johnson, Amy, Vincent, Lisa M., Reavey, Caitlin, Lai, Amy, Richard, Gabriele, Meck, Jeanne M.

“…Purpose The ability of a single technology, next-generation sequencing, to provide both sequence and copy number variant (CNV) results has driven the merger of…”
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Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine by Bean, Lora J.H., Hegde, Madhuri R.

“…ABSTRACT Revolutionary changes in sequencing technology and the desire to develop therapeutics for rare diseases have led to the generation of an enormous…”
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DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG) by Bean, Lora J.H., Scheuner, Maren T., Murray, Michael F., Biesecker, Leslie G., Green, Robert C., Monaghan, Kristin G., Palomaki, Glenn E., Sharp, Richard R., Trotter, Tracy L., Watson, Michael S., Powell, Cynthia M.

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Regulating whole exome sequencing as a diagnostic test by Lapin, Valentina, Mighion, Lindsey C., da Silva, Cristina P., Cuperus, Ymkje, Bean, Lora J. H., Hegde, Madhuri R.

“…In the last decade, there has been a flood of new technology in the sequencing arena. The onset of next-generation sequencing (NGS) technology has resulted in…”
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ACMG position statement on prenatal/preconception expanded carrier screening by Grody, Wayne W., Thompson, Barry H., Gregg, Anthony R., Bean, Lora H., Monaghan, Kristin G., Schneider, Adele, Lebo, Roger V.

“…For years, clinicians have offered gene-by-gene carrier screening to patients and couples considering future pregnancy or those with an ongoing pregnancy early…”
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Next-Generation Sequencing Somatic and Germline Assay Troubleshooting Guide Derived From Proficiency Testing Data by Nardi, Valentina, Tsuchiya, Karen D, Kim, Annette S, Bean, Lora J H, Halley, Jaimie G, Long, Thomas A, Szelinger, Szabolcs, Vasalos, Patricia, Thorson, John A, Moyer, Ann M, Moncur, Joel T

“…Next-generation sequencing-based assays are increasingly used in clinical molecular laboratories to detect somatic variants in solid tumors and hematologic…”
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Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines by Bean, Lora J H, Hegde, Madhuri R

“…Clinical genetics laboratories have recently adopted guidelines for the interpretation of sequence variants set by the American College of Medical Genetics…”
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Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data by Bean, Lora J.H., Tinker, Stuart W., da Silva, Cristina, Hegde, Madhuri R.

“…ABSTRACT Current technology allows clinical laboratories to rapidly translate research discoveries from small patient cohorts into clinical genetic tests;…”
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Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21 by Oliver, Tiffany Renee, Tinker, Stuart W., Allen, Emily Graves, Hollis, Natasha, Locke, Adam E., Bean, Lora J. H., Chowdhury, Reshmi, Begum, Ferdouse, Marazita, Mary, Cheung, Vivian, Feingold, Eleanor, Sherman, Stephanie L.

“…We have previously examined characteristics of maternal chromosomes 21 that exhibited a single recombination on 21q and proposed that certain recombination…”
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Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine by Bean, Lora J.H., Hegde, Madhuri R.

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Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG) by Seifert, Bryce A., Reddi, Honey V., Kang, Benjamin E., Bean, Lora J.H., Shealy, Amy, Rose, Nancy C.

“…Myotonic dystrophy type 1 (DM1) is a form of muscular dystrophy causing progressive muscle loss and weakness. Although clinical features can manifest at any…”
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An examination of the relationship between hotspots and recombination associated with chromosome 21 nondisjunction by Oliver, Tiffany Renee, Middlebrooks, Candace D, Tinker, Stuart W, Allen, Emily Graves, Bean, Lora J H, Begum, Ferdouse, Feingold, Eleanor, Chowdhury, Reshmi, Cheung, Vivian, Sherman, Stephanie L

“…Trisomy 21, resulting in Down Syndrome (DS), is the most common autosomal trisomy among live-born infants and is caused mainly by nondisjunction of chromosome…”
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Genetic Screening for OPA1 and OPA3 Mutations in Patients with Suspected Inherited Optic Neuropathies by Yu-Wai-Man, Patrick, MRCOphth, Shankar, Suma P., MD, PhD, Biousse, Valérie, MD, Miller, Neil R., MD, Bean, Lora J.H., PhD, Coffee, Bradford, PhD, Hegde, Madhuri, PhD, Newman, Nancy J., MD

“…Purpose Autosomal-dominant optic atrophy (DOA) is one of the most common inherited optic neuropathies, and it is genetically heterogeneous, with mutations in…”
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Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants by Brandt, Tracy, Sack, Laura M., Arjona, Dolores, Tan, Duanjun, Mei, Hui, Cui, Hong, Gao, Hua, Bean, Lora J.H., Ankala, Arunkanth, Del Gaudio, Daniela, Johnson, Amy Knight, Vincent, Lisa M., Reavey, Caitlin, Lai, Amy, Richard, Gabriele, Meck, Jeanne M.

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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The association of low socioeconomic status and the risk of having a child with Down syndrome: a report from the National Down Syndrome Project by Hunter, Jessica Ezzell, Allen, Emily Graves, Shin, Mikyong, Bean, Lora J.H., Correa, Adolfo, Druschel, Charlotte, Hobbs, Charlotte A., O’Leary, Leslie A., Romitti, Paul A., Royle, Marjorie H., Torfs, Claudine P., Freeman, Sallie B., Sherman, Stephanie L.

“…Advanced maternal age and altered recombination are known risk factors for Down syndrome cases due to maternal nondisjunction of chromosome 21, whereas the…”
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