Search Results - "Chung, Wendy K."

Genetics and genomics of pulmonary arterial hypertension by Morrell, Nicholas W, Aldred, Micheala A, Chung, Wendy K, Elliott, C Gregory, Nichols, William C, Soubrier, Florent, Trembath, Richard C, Loyd, James E

“…Since 2000 there have been major advances in our understanding of the genetic and genomics of pulmonary arterial hypertension (PAH), although there remains…”
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Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association by Pierpont, Mary Ella, Brueckner, Martina, Chung, Wendy K., Garg, Vidu, Lacro, Ronald V., McGuire, Amy L., Mital, Seema, Priest, James R., Pu, William T., Roberts, Amy, Ware, Stephanie M., Gelb, Bruce D., Russell, Mark W.

“…This review provides an updated summary of the state of our knowledge of the genetic contributions to the pathogenesis of congenital heart disease. Since 2007,…”
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Genetic Basis of Human Congenital Heart Disease by Nees, Shannon N, Chung, Wendy K

“…Congenital heart disease (CHD) is the most common major congenital anomaly with an incidence of ∼1% of live births and is a significant cause of birth…”
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ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG) by Miller, David T., Lee, Kristy, Chung, Wendy K., Gordon, Adam S., Herman, Gail E., Klein, Teri E., Stewart, Douglas R., Amendola, Laura M., Adelman, Kathy, Bale, Sherri J., Gollob, Michael H., Harrison, Steven M., Hershberger, Ray E., McKelvey, Kent, Richards, C. Sue, Vlangos, Christopher N., Watson, Michael S., Martin, Christa Lese

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MVP predicts the pathogenicity of missense variants by deep learning by Qi, Hongjian, Zhang, Haicang, Zhao, Yige, Chen, Chen, Long, John J., Chung, Wendy K., Guan, Yongtao, Shen, Yufeng

“…Accurate pathogenicity prediction of missense variants is critically important in genetic studies and clinical diagnosis. Previously published prediction…”
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The role of genetics in pulmonary arterial hypertension by Ma, Lijiang, Chung, Wendy K

“…Group 1 pulmonary hypertension or pulmonary arterial hypertension (PAH) is a rare disease characterized by proliferation and occlusion of small pulmonary…”
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Clinical application of whole-exome sequencing across clinical indications by Retterer, Kyle, Juusola, Jane, Cho, Megan T., Vitazka, Patrik, Millan, Francisca, Gibellini, Federica, Vertino-Bell, Annette, Smaoui, Nizar, Neidich, Julie, Monaghan, Kristin G., McKnight, Dianalee, Bai, Renkui, Suchy, Sharon, Friedman, Bethany, Tahiliani, Jackie, Pineda-Alvarez, Daniel, Richard, Gabriele, Brandt, Tracy, Haverfield, Eden, Chung, Wendy K., Bale, Sherri

“…We report the diagnostic yield of whole-exome sequencing (WES) in 3,040 consecutive cases at a single clinical laboratory. WES was performed for many different…”
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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics by Kalia, Sarah S., Adelman, Kathy, Bale, Sherri J., Chung, Wendy K., Eng, Christine, Evans, James P., Herman, Gail E., Hufnagel, Sophia B., Klein, Teri E., Korf, Bruce R., McKelvey, Kent D., Ormond, Kelly E., Richards, C. Sue, Vlangos, Christopher N., Watson, Michael, Martin, Christa L., Miller, David T.

“…Disclaimer: These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide…”
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Artificial intelligence and the impact on medical genetics by Solomon, Benjamin D, Chung, Wendy K

“…Virtually all areas of biomedicine will be increasingly affected by applications of artificial intelligence (AI). We discuss how AI may affect fields of…”
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ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG) by Miller, David T., Lee, Kristy, Abul-Husn, Noura S., Amendola, Laura M., Brothers, Kyle, Chung, Wendy K., Gollob, Michael H., Gordon, Adam S., Harrison, Steven M., Hershberger, Ray E., Klein, Teri E., Richards, Carolyn Sue, Stewart, Douglas R., Martin, Christa Lese

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Precision Medicine in Diabetes: A Consensus Report From the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD) by Chung, Wendy K, Erion, Karel, Florez, Jose C, Hattersley, Andrew T, Hivert, Marie-France, Lee, Christine G, McCarthy, Mark I, Nolan, John J, Norris, Jill M, Pearson, Ewan R, Philipson, Louis, McElvaine, Allison T, Cefalu, William T, Rich, Stephen S, Franks, Paul W

“…The convergence of advances in medical science, human biology, data science, and technology has enabled the generation of new insights into the phenotype known…”
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Genetics and Other Omics in Pediatric Pulmonary Arterial Hypertension by Welch, Carrie L., Chung, Wendy K.

“…Pulmonary arterial hypertension (PAH) is a rare disease with high mortality despite therapeutic advances. Clinical management of children with PAH is…”
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The genetic basis of pulmonary arterial hypertension by Ma, Lijiang, Chung, Wendy K.

“…Pulmonary arterial hypertension (PAH) is a rare disease characterized by distinctive changes in pulmonary arterioles that lead to progressive elevation of…”
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Genetics and Genomics of Pulmonary Arterial Hypertension by Soubrier, Florent, MD, PhD, Chung, Wendy K., MD, PhD, Machado, Rajiv, PhD, Grünig, Ekkehard, MD, Aldred, Micheala, PhD, Geraci, Mark, MD, Loyd, James E., MD, Elliott, C. Gregory, MD, Trembath, Richard C., MD, Newman, John H., MD, Humbert, Marc, MD, PhD

“…Major discoveries have been obtained within the last decade in the field of hereditary predisposition to pulmonary arterial hypertension (PAH). Among them, the…”
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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG) by Miller, David T., Lee, Kristy, Gordon, Adam S., Amendola, Laura M., Adelman, Kathy, Bale, Sherri J., Chung, Wendy K., Gollob, Michael H., Harrison, Steven M., Herman, Gail E., Hershberger, Ray E., Klein, Teri E., McKelvey, Kent, Richards, C. Sue, Vlangos, Christopher N., Stewart, Douglas R., Watson, Michael S., Martin, Christa Lese

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The genetics of isolated congenital heart disease by Nees, Shannon N., Chung, Wendy K.

“…The genetic mechanisms underlying congenital heart disease (CHD) are complex and remain incompletely understood. The majority of patients with CHD have an…”
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Pediatric Cardiomyopathies by Lee, Teresa M, Hsu, Daphne T, Kantor, Paul, Towbin, Jeffrey A, Ware, Stephanie M, Colan, Steven D, Chung, Wendy K, Jefferies, John L, Rossano, Joseph W, Castleberry, Chesney D, Addonizio, Linda J, Lal, Ashwin K, Lamour, Jacqueline M, Miller, Erin M, Thrush, Philip T, Czachor, Jason D, Razoky, Hiedy, Hill, Ashley, Lipshultz, Steven E

“…Pediatric cardiomyopathies are rare diseases with an annual incidence of 1.1 to 1.5 per 100 000. Dilated and hypertrophic cardiomyopathies are the most common;…”
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Rare variant phasing and haplotypic expression from RNA sequencing with phASER by Castel, Stephane E., Mohammadi, Pejman, Chung, Wendy K., Shen, Yufeng, Lappalainen, Tuuli

“…Haplotype phasing of genetic variants is important for clinical interpretation of the genome, population genetic analysis and functional genomic analysis of…”
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ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG) by Miller, David T., Lee, Kristy, Abul-Husn, Noura S., Amendola, Laura M., Brothers, Kyle, Chung, Wendy K., Gollob, Michael H., Gordon, Adam S., Harrison, Steven M., Hershberger, Ray E., Klein, Teri E., Richards, C. Sue, Stewart, Douglas R., Martin, Christa Lese

“…Clinicians are encouraged to document the reasons for the use of a particular procedure or test, whether or not it is in conformance with this statement…”
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Observational study of spinal muscular atrophy type I and implications for clinical trials by Finkel, Richard S, McDermott, Michael P, Kaufmann, Petra, Darras, Basil T, Chung, Wendy K, Sproule, Douglas M, Kang, Peter B, Foley, A Reghan, Yang, Michelle L, Martens, William B, Oskoui, Maryam, Glanzman, Allan M, Flickinger, Jean, Montes, Jacqueline, Dunaway, Sally, OʼHagen, Jessica, Quigley, Janet, Riley, Susan, Benton, Maryjane, Ryan, Patricia A, Montgomery, Megan, Marra, Jonathan, Gooch, Clifton, De Vivo, Darryl C

“…OBJECTIVES:Prospective cohort study to characterize the clinical features and course of spinal muscular atrophy type I (SMA-I). METHODS:Patients were enrolled…”
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