Search Results - "Richards, C. Sue" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

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)

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
Published in Genetics in medicine (01.08.2021)

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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)

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
Published in Genetics in medicine (01.08.2021)

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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)

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
Published in Genetics in medicine (01.08.2023)

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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

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.
Published in Genetics in medicine (01.02.2017)

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ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

by Richards, C. Sue, Bale, Sherri, Bellissimo, Daniel B., Das, Soma, Grody, Wayne W., Hegde, Madhuri R., Lyon, Elaine, Ward, Brian E.
Published in Genetics in medicine (01.04.2008)

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Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory

by Punj, Sumit, Akkari, Yassmine, Huang, Jennifer, Yang, Fei, Creason, Allison, Pak, Christine, Potter, Amiee, Dorschner, Michael O., Nickerson, Deborah A., Robertson, Peggy D., Jarvik, Gail P., Amendola, Laura M., Schleit, Jennifer, Simpson, Dana Kostiner, Rope, Alan F., Reiss, Jacob, Kauffman, Tia, Gilmore, Marian J., Himes, Patricia, Wilfond, Benjamin, Goddard, Katrina A.B., Richards, C. Sue
Published in American journal of human genetics (07.06.2018)

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Correction to: 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)

Correction to: 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
Published in Genetics in medicine (01.08.2021)

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Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

by Watson, Michael S., Cutting, Garry R., Desnick, Robert J., Driscoll, Deborah A., Klinger, Katherine, Mennuti, Michael, Palomaki, Glenn E., Popovich, Bradley W., Pratt, Victoria M., Rohlfs, Elizabeth M., Strom, Charles M., Richards, C. Sue, Witt, David R., Grody, Wayne W.
Published in Genetics in medicine (01.09.2004)

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Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing

Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing

by Kauffman, Tia L, Wilfond, Benjamin S, Jarvik, Gail P, Leo, Michael C, Lynch, Frances L, Reiss, Jacob A, Sue Richards, C, McMullen, Carmit, Nickerson, Deborah, Dorschner, Michael O, Goddard, Katrina A.B
Published in Contemporary clinical trials (01.02.2017)

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Novel recruitment approaches and operational results for a statewide population Cohort for cancer research: The Healthy Oregon Project

Novel recruitment approaches and operational results for a statewide population Cohort for cancer research: The Healthy Oregon Project

by Zhang, Zhenzhen, Shafer, Autumn, Johnson-Camacho, Katie, Adey, Andrew, Anur, Pavana, Brown, Kim A, Conrad, Casey, Crist, Rachel, Farris, Paige E, Harrington, Christina A, Marriott, Lisa K, Mitchell, Asia, O'Roak, Brian, Serrato, Vanessa, Richards, C Sue, Spellman, Paul T, Shannon, Jackilen
Published in Journal of clinical and translational science (2024)

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Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

by Hart, M Ragan, Biesecker, Barbara B, Blout, Carrie L, Christensen, Kurt D, Amendola, Laura M, Bergstrom, Katie L, Biswas, Sawona, Bowling, Kevin M, Brothers, Kyle B, Conlin, Laura K, Cooper, Greg M, Dulik, Matthew C, East, Kelly M, Everett, Jessica N, Finnila, Candice R, Ghazani, Arezou A, Gilmore, Marian J, Goddard, Katrina A B, Jarvik, Gail P, Johnston, Jennifer J, Kauffman, Tia L, Kelley, Whitley V, Krier, Joel B, Lewis, Katie L, McGuire, Amy L, McMullen, Carmit, Ou, Jeffrey, Plon, Sharon E, Rehm, Heidi L, Richards, C Sue, Romasko, Edward J, Sagardia, Ane Miren, Spinner, Nancy B, Thompson, Michelle L, Turbitt, Erin, Vassy, Jason L, Wilfond, Benjamin S, Veenstra, David L, Berg, Jonathan S, Green, Robert C, Biesecker, Leslie G, Hindorff, Lucia A
Published in Genetics in medicine (01.05.2019)

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Prevalence and Distribution of the c.1436C→T Sequence Variant of Carnitine Palmitoyltransferase 1A among Alaska Native Infants

Prevalence and Distribution of the c.1436C→T Sequence Variant of Carnitine Palmitoyltransferase 1A among Alaska Native Infants

by Gessner, Bradford D., MD, Gillingham, Melanie B., PhD, Johnson, Monique A., PhD, Richards, C. Sue, PhD, Lambert, William E., PhD, Sesser, David, BA, Rien, Leanne C., RN, Hermerath, Cheryl A., MBA, Skeels, Michael R., PhD, Birch, Stephanie, MPH, Harding, Cary O., MD, Wood, Thalia, MPH, Koeller, David M., MD
Published in The Journal of pediatrics (2011)

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Identification of the CFTR p.Phe508Del founder mutation in the absence of a polythymidine 9T allele in a Hispanic patient

Identification of the CFTR p.Phe508Del founder mutation in the absence of a polythymidine 9T allele in a Hispanic patient

by Dharajiya, N, Chisholm, KM, Dietz, L, Sue Richards, C, Kharrazi, M, Schrijver, I
Published in Clinical genetics (01.06.2013)

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A Homozygous Mutation in MSH6 Causes Turcot Syndrome

A Homozygous Mutation in MSH6 Causes Turcot Syndrome

by HEGDE, Madhuri R, CHONG, Belinda, BLAZO, Maria E, CHIN, Lip Hon E, WARD, Patricia A, CHINTAGUMPALA, Murali M, KIM, John Y, PLAN, Sharon E, RICHARDS, C. Sue
Published in Clinical cancer research (01.07.2005)

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Artificial intelligence (AI)-assisted exome reanalysis greatly aids in the identification of new positive cases and reduces analysis time in a clinical diagnostic laboratory

Artificial intelligence (AI)-assisted exome reanalysis greatly aids in the identification of new positive cases and reduces analysis time in a clinical diagnostic laboratory

by O’Brien, Timothy D., Campbell, N. Eleanor, Potter, Amiee B., Letaw, John H., Kulkarni, Arpita, Richards, C. Sue
Published in Genetics in medicine (01.01.2022)

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Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

by Hart, M Ragan, Biesecker, Barbara B, Blout, Carrie L, Christensen, Kurt D, Amendola, Laura M, Bergstrom, Katie L, Biswas, Sawona, Bowling, Kevin M, Brothers, Kyle B, Conlin, Laura K, Cooper, Greg M, Dulik, Matthew C, East, Kelly M, Everett, Jessica N, Finnila, Candice R, Ghazani, Arezou A, Gilmore, Marian J, Goddard, Katrina A B, Jarvik, Gail P, Johnston, Jennifer J, Kauffman, Tia L, Kelley, Whitley V, Krier, Joel B, Lewis, Katie L, McGuire, Amy L, McMullen, Carmit, Ou, Jeffrey, Plon, Sharon E, Rehm, Heidi L, Richards, C Sue, Romasko, Edward J, Miren Sagardia, Ane, Spinner, Nancy B, Thompson, Michelle L, Turbitt, Erin, Vassy, Jason L, Wilfond, Benjamin S, Veenstra, David L, Berg, Jonathan S, Green, Robert C, Biesecker, Leslie G, Hindorff, Lucia A
Published in Genetics in medicine (01.05.2019)

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Missense variant in RBM10 associated with mild and non‐lethal form of TARP syndrome

Missense variant in RBM10 associated with mild and non‐lethal form of TARP syndrome

by Potter, Amiee B., O'Brien, Timothy D., Kulkarni, Arpita, McCabe, Sarah, Matthews, Kathryn, Kovak, Karen, Rogers, Caleb, Richards, C. Sue, Moore, Stephen
Published in Clinical genetics (01.08.2023)

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Venous thromboembolism laboratory testing (factor V Leiden andfactor II c.97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Venous thromboembolism laboratory testing (factor V Leiden andfactor II c.97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

by Zhang, Shulin, Taylor, Annette K., Huang, Xuan, Luo, Biao, Spector, Elaine B., Fang, Ping, Richards, C. Sue
Published in Genetics in medicine (01.12.2018)

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Consensus Characterization of 16 FMR1 Reference Materials: A Consortium Study

Consensus Characterization of 16 FMR1 Reference Materials: A Consortium Study

by Amos Wilson, Jean, Pratt, Victoria M, Phansalkar, Amit, Muralidharan, Kasinathan, Highsmith, W. Edward, Beck, Jeanne C, Bridgeman, Scott, Courtney, Ebony M, Epp, Lidia, Ferreira-Gonzalez, Andrea, Hjelm, Nick L, Holtegaard, Leonard M, Jama, Mohamed A, Jakupciak, John P, Johnson, Monique A, Labrousse, Paul, Lyon, Elaine, Prior, Thomas W, Richards, C. Sue, Richie, Kristy L, Roa, Benjamin B, Rohlfs, Elizabeth M, Sellers, Tina, Sherman, Stephanie L, Siegrist, Karen A, Silverman, Lawrence M, Wiszniewska, Joanna, Kalman, Lisa V
Published in The Journal of molecular diagnostics : JMD (2008)

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An Educational Assessment of Evidence Used for Variant Classification: A Report of the Association for Molecular Pathology

An Educational Assessment of Evidence Used for Variant Classification: A Report of the Association for Molecular Pathology

by Lyon, Elaine, Temple-Smolkin, Robyn L, Hegde, Madhuri, Gastier-Foster, Julie M, Palomaki, Glenn E, Richards, C Sue
Published in The Journal of molecular diagnostics : JMD (01.06.2022)

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