Search Results - "ZION TRICIA" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations

Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations

by Cohen, Ana S.A., Berrios, Courtney D., Zion, Tricia N., Barrett, Cassandra M., Moore, Riley, Boillat, Emelia, Belden, Bradley, Farrow, Emily G., Thiffault, Isabelle, Zuccarelli, Britton D., Pastinen, Tomi
Published in American journal of human genetics (02.05.2024)

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Journal Article

Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

by Cheung, Warren A, Johnson, Adam F, Rowell, William J, Farrow, Emily, Hall, Richard, Cohen, Ana S A, Means, John C, Zion, Tricia N, Portik, Daniel M, Saunders, Christopher T, Koseva, Boryana, Bi, Chengpeng, Truong, Tina K, Schwendinger-Schreck, Carl, Yoo, Byunggil, Johnston, Jeffrey J, Gibson, Margaret, Evrony, Gilad, Rizzo, William B, Thiffault, Isabelle, Younger, Scott T, Curran, Tom, Wenger, Aaron M, Grundberg, Elin, Pastinen, Tomi
Published in Nature communications (29.05.2023)

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Journal Article

Insurance denials and diagnostic rates in a pediatric genomic research cohort

Insurance denials and diagnostic rates in a pediatric genomic research cohort

by Zion, Tricia N., Berrios, Courtney D., Cohen, Ana S.A., Bartik, Lauren, Cross, Laura A., Engleman, Kendra L., Fleming, Emily A., Gadea, Randi N., Hughes, Susan S., Jenkins, Janda L., Kussmann, Jennifer, Lawson, Caitlin, Schwager, Caitlin, Strenk, Meghan E., Welsh, Holly, Rush, Eric T., Amudhavalli, Shivarajan M., Sullivan, Bonnie R., Zhou, Dihong, Gannon, Jennifer L., Heese, Bryce A., Moore, Riley, Boillat, Emelia, Biswell, Rebecca L., Louiselle, Daniel A., Puckett, Laura M.B., Beyer, Shanna, Neal, Shelby H., Sierant, Victoria, McBeth, Macy, Belden, Bradley, Walter, Adam M., Gibson, Margaret, Cheung, Warren A., Johnston, Jeffrey J., Thiffault, Isabelle, Farrow, Emily G., Grundberg, Elin, Pastinen, Tomi
Published in Genetics in medicine (01.05.2023)

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Journal Article

P458: Evaluating the impact of long read genomes in rare disease: A systematic analysis of 1000 HiFi genomes

P458: Evaluating the impact of long read genomes in rare disease: A systematic analysis of 1000 HiFi genomes

by Farrow, Emily, Thiffault, Isabelle, Cohen, Ana, Zion, Tricia, Walter, Adam, Gibson, Margaret, Bi, Chengpeng, Cheung, Warren, Johnston, Jeffrey, Pastinen, Tomi
Published in Genetics in Medicine Open (2023)

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Journal Article

P868: How many lost diagnoses? Addressing inequitable access to genomic testing for rare diseases in rural populations

P868: How many lost diagnoses? Addressing inequitable access to genomic testing for rare diseases in rural populations

by Cohen, Ana S.A., Barrett, Cassandra, Zion, Tricia, Moore, Riley, Boillat, Emelia, Belden, Bradley, Farrow, Emily, Thiffault, Isabelle, Berrios, Courtney, Zuccarelli, Britton, Pastinen, Tomi
Published in Genetics in Medicine Open (2024)

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Journal Article

O24: Unveiling the power of HiFi genome sequencing: One test to rule them all?

O24: Unveiling the power of HiFi genome sequencing: One test to rule them all?

by Farrow, Emily, Saunders, Carol, Gibson, Margaret, Walter, Adam, Cohen, Ana S.A., Alaimo, Joseph, Zion, Tricia, Bi, Charlie, Zhou, YuXin, Bourque, Guil, Johnson, Adam, Yoo, Byunggil, Schwendinger-Schreck, Carl, Johnston, Jeff, Cheung, Warren, Pastinen, Tomi, Thiffault, Isabelle
Published in Genetics in Medicine Open (2024)

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Journal Article

P571: Expanding the genetic and phenotypic spectrum of cohesinopathies in a single center

P571: Expanding the genetic and phenotypic spectrum of cohesinopathies in a single center

by Thiffault, Isabelle, Alaimo, Joseph, Paolillo, Vitoria, Del Viso, Florencia, Cohen, Ana, Farrow, Emily, Starling, Susan, Humphrey, Maggie, Schwager, Caitlin, Bartik, Lauren, Engleman, Kendra, Cross, Laura, Welsh, Holly, Rush, Eric, Amudhavalli, Shivarajan, Sullivan, Bonnie, Zhou, Dihong, Shaffer, Elizabeth, Baig, Waseem, Zellmer, Lee, Rindler, Mary, Zion, Tricia, Boillat, Emelia, Pastinen, Tomi, Saunders, Carol
Published in Genetics in Medicine Open (2023)

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Journal Article

Clinical validity assessment of genes for inclusion in multi‐gene panel testing: A systematic approach

Clinical validity assessment of genes for inclusion in multi‐gene panel testing: A systematic approach

by Zion, Tricia N., Wayburn, Bess, Darabi, Sourat, Lamb Thrush, Devon, Smith, Erica D., Johnston, Tami, Martin, Brissa, Hagman, Kelly D. F., Parra, Melissa, Antolik, Christian
Published in Molecular genetics & genomic medicine (01.05.2019)

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Journal Article

Comparing Attitudes About Genomic Privacy and Data Sharing in Adolescents and Parents of Children Enrolled in a Genomic Research Repository

Comparing Attitudes About Genomic Privacy and Data Sharing in Adolescents and Parents of Children Enrolled in a Genomic Research Repository

by Berrios, Courtney, Neal, Shelby, Zion, Tricia, Pastinen, Tomi
Published in AJOB empirical bioethics (2024)

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Journal Article

Retrospective analysis of NGS data in pediatric genetic cohort: detection of rare variants that may impact influenza and COVID-19 infection

Retrospective analysis of NGS data in pediatric genetic cohort: detection of rare variants that may impact influenza and COVID-19 infection

by Thiffault, Isabelle, Farrow, Emily, Cohen, Ana, Zion, Tricia, Neal, Shelby, Cheung, Warren, Johnston, Jeffrey, Miller, Neil, Gibson, Margaret, Walter, Adam, Puckett, Laura, Posey, Nyshele, Nair, Annapoorna, McDonald, Brittany, Elfrink, Mary, Herd, Suzanne, Pastinen, Tomi
Published in Molecular genetics and metabolism (01.04.2021)

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Journal Article

Next-generation sequencing identifies unexpected high frequency of patients with KIF1A Associated Neurological Disorder (KAND) in a single center

Next-generation sequencing identifies unexpected high frequency of patients with KIF1A Associated Neurological Disorder (KAND) in a single center

by Thiffault, Isabelle, Farrow, Emily, Cadieux-Dion, Maxime, Quezada, Julio, Khalid, Roha, Lessard, Dominique, Atchley, Kathryn, Zion, Tricia, Miller, Neil, Gibson, Margaret, Walter, Adam, Puckett, Laura, Saunders, Carol, Coffman, Keith, Pastinen, Tomi
Published in Molecular genetics and metabolism (01.04.2021)

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Journal Article

Experience using a combination of variant prioritization tools in a large rare disease cohort

Experience using a combination of variant prioritization tools in a large rare disease cohort

by Cohen, Ana S.A., Thiffault, Isabelle, Farrow, Emily, Cheung, Warren, Johnston, Jeffrey, Zion, Tricia, Bartik, Lauren, Gibson, Margaret, Walter, Adam, Puckett, Laura, Posey, Nyshele, McDonald, Brittany, Elfrink, Mary, Herd, Suzanne, Miller, Neil, Pastinen, Tomi
Published in Molecular genetics and metabolism (01.04.2021)

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Journal Article

OP337 - Retrospective analysis of NGS data in pediatric genetic cohort: detection of rare variants that may impact influenza and COVID-19 infection

OP337 - Retrospective analysis of NGS data in pediatric genetic cohort: detection of rare variants that may impact influenza and COVID-19 infection

by Thiffault, Isabelle, Farrow, Emily, Cohen, Ana, Zion, Tricia, Neal, Shelby, Cheung, Warren, Johnston, Jeffrey, Miller, Neil, Gibson, Margaret, Walter, Adam, Puckett, Laura, Posey, Nyshele, Nair, Annapoorna, McDonald, Brittany, Elfrink, Mary, Herd, Suzanne, Pastinen, Tomi
Published in Molecular genetics and metabolism (01.04.2021)

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Journal Article

eP403 - Experience using a combination of variant prioritization tools in a large rare disease cohort

eP403 - Experience using a combination of variant prioritization tools in a large rare disease cohort

by Cohen, Ana S.A., Thiffault, Isabelle, Farrow, Emily, Cheung, Warren, Johnston, Jeffrey, Zion, Tricia, Bartik, Lauren, Gibson, Margaret, Walter, Adam, Puckett, Laura, Posey, Nyshele, McDonald, Brittany, Elfrink, Mary, Herd, Suzanne, Miller, Neil, Pastinen, Tomi
Published in Molecular genetics and metabolism (01.04.2021)

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Journal Article

eP411 - Next-generation sequencing identifies unexpected high frequency of patients with KIF1A Associated Neurological Disorder (KAND) in a single center

eP411 - Next-generation sequencing identifies unexpected high frequency of patients with KIF1A Associated Neurological Disorder (KAND) in a single center

by Thiffault, Isabelle, Farrow, Emily, Cadieux-Dion, Maxime, Quezada, Julio, Khalid, Roha, Lessard, Dominique, Atchley, Kathryn, Zion, Tricia, Miller, Neil, Gibson, Margaret, Walter, Adam, Puckett, Laura, Saunders, Carol, Coffman, Keith, Pastinen, Tomi
Published in Molecular genetics and metabolism (01.04.2021)

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Journal Article

eP422: Diagnostic rate of genetic testing in a pediatric research cohort with clinical insurance denials

eP422: Diagnostic rate of genetic testing in a pediatric research cohort with clinical insurance denials

by Zion, Tricia, Berrios, Courtney, Bartik, Lauren, Louiselle, Daniel, Biswell, Rebecca, Puckett, Laura, Belden, Bradley, Moore, Riley, Boillat, Emelia, Sierant, Victoria, McBeth, Macy, Kirchhoff, Amy, Walter, Adam, Gibson, Margaret, Cheung, Warren, Johnston, Jeffrey, Cohen, Ana, Thiffault, Isabelle, Farrow, Emily, Grundberg, Elin, Pastinen, Tomi
Published in Genetics in medicine (01.03.2022)

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Journal Article

eP446 - Exploration of genetic variation beyond leukocyte-derived germline DNA in a pediatric rare disease cohort

eP446 - Exploration of genetic variation beyond leukocyte-derived germline DNA in a pediatric rare disease cohort

by Zion, Tricia, Louiselle, Daniel, Biswell, Rebecca, Puckett, Laura, Posey, Nyshele, Neal, Shelby, Elfrink, Mary, McDonald, Brittany, Greathous, Alexandra, Belden, Bradley, Herd, Suzanne, Walter, Adam, Gibson, Margaret, Cheung, Warren, Johnston, Jeffrey, Cohen, Ana, Thiffault, Isabelle, Farrow, Emily, Miller, Neil, Pastinen, Tomi, Grundberg, Elin
Published in Molecular genetics and metabolism (01.04.2021)

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Journal Article

Exploration of genetic variation beyond leukocyte-derived germline DNA in a pediatric rare disease cohort

Exploration of genetic variation beyond leukocyte-derived germline DNA in a pediatric rare disease cohort

by Zion, Tricia, Louiselle, Daniel, Biswell, Rebecca, Puckett, Laura, Posey, Nyshele, Neal, Shelby, Elfrink, Mary, McDonald, Brittany, Greathous, Alexandra, Belden, Bradley, Herd, Suzanne, Walter, Adam, Gibson, Margaret, Cheung, Warren, Johnston, Jeffrey, Cohen, Ana, Thiffault, Isabelle, Farrow, Emily, Miller, Neil, Pastinen, Tomi, Grundberg, Elin
Published in Molecular genetics and metabolism (01.04.2021)

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Journal Article

COMPOSITIONS AND METHODS FOR THE ATTRACTION AND REPULSION OF INSECTS

COMPOSITIONS AND METHODS FOR THE ATTRACTION AND REPULSION OF INSECTS

by ELKASHEF SAMER, FRUTOS ULISES, BROWN MICHELLE ARDELLA, LOMELI MARTIN ANTONIO JR, ZION TRICIA
Year of Publication 26.05.2015

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Patent

COMPOSITIONS AND METHODS FOR THE ATTRACTION AND REPULSION OF INSECTS

COMPOSITIONS AND METHODS FOR THE ATTRACTION AND REPULSION OF INSECTS

by BROWN, MICHELLE, ARDELLA, ZION, TRICIA, FRUTOS, ULISES, LOMELI, MARTIN, ANTONIO, JR, ELKASHEF, SAMER
Year of Publication 07.09.2016

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Patent