Search Results - "Jason Chibuk"

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    A new era in aneuploidy screening: cfDNA testing in >30,000 multifetal gestations: Experience at one clinical laboratory by Dyr, Brittany, Boomer, Theresa, Almasri, Eyad A, Wardrop, Jenna L, Rafalko, Jill, Chibuk, Jason, McCullough, Ron M

    Published in PloS one (08-08-2019)
    “…Since introducing cell-free DNA screening, Sequenom Laboratories has analyzed over 1 million clinical samples. More than 30,000 of these samples were from…”
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    Journal Article
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    Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients by Best, D Hunter, Vaughn, Cecily, McDonald, Jamie, Damjanovich, Kristy, Runo, James R, Chibuk, Jason M, Bayrak-Toydemir, Pinar

    Published in Journal of medical genetics (01-05-2011)
    “…Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder caused by mutations in the ACVRL1, ENG, and SMAD4 genes. HHT is commonly…”
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    Journal Article
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    Three years of clinical experience with a genome-wide cfDNA screening test for aneuploidies and copy-number variants by Soster, Erica, Boomer, Theresa, Hicks, Susan, Caldwell, Samantha, Dyr, Brittany, Chibuk, Jason, Almasri, Eyad

    Published in Genetics in medicine (01-07-2021)
    “…Pregnant women have unprecedented choices for prenatal screening and testing. Cell-free DNA (cfDNA) offers the option to screen for aneuploidy of all…”
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    Journal Article
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    Genome-wide cfDNA screening: clinical laboratory experience with the first 10,000 cases by Ehrich, Mathias, Tynan, John, Mazloom, Amin, Almasri, Eyad, McCullough, Ron, Boomer, Theresa, Grosu, Daniel, Chibuk, Jason

    Published in Genetics in medicine (01-12-2017)
    “…Purpose Invasive diagnostic prenatal testing can provide the most comprehensive information about the genetic status of a fetus. Noninvasive prenatal screening…”
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    Journal Article
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    Cell‐free DNA screening in twin pregnancies: A more accurate and reliable screening tool by Chibuk, Jason, Rafalko, Jill, Boomer, Theresa, McCullough, Ron, McLennan, Graham, Wyatt, Philip, Almasri, Eyad

    Published in Prenatal diagnosis (01-09-2020)
    “…Objective Outcome data from cell‐free DNA (cfDNA) screening in twin gestations are limited. This study adds an appreciable number of confirmed outcomes to the…”
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    Journal Article
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    Clinical validation of a next-generation sequencing-based multi-cancer early detection "liquid biopsy" blood test in over 1,000 dogs using an independent testing set: The CANcer Detection in Dogs (CANDiD) study by Flory, Andi, Kruglyak, Kristina M, Tynan, John A, McLennan, Lisa M, Rafalko, Jill M, Fiaux, Patrick Christian, Hernandez, Gilberto E, Marass, Francesco, Nakashe, Prachi, Ruiz-Perez, Carlos A, Fath, Donna M, Jennings, Thuy, Motalli-Pepio, Rita, Wotrang, Kate, McCleary-Wheeler, Angela L, Lana, Susan, Phillips, Brenda, Flesner, Brian K, Leibman, Nicole F, LaDue, Tracy, Tripp, Chelsea D, Coomber, Brenda L, Woods, J Paul, Miller, Mairin, Aiken, Sean W, Wolf-Ringwall, Amber, Borgatti, Antonella, Kraska, Kathleen, Thomson, Christopher B, Kosanovich Cahalane, Alane, Murray, Rebecca L, Kisseberth, William C, Camps-Palau, Maria A, Floch, Franck, Beaudu-Lange, Claire, Klajer-Peres, Aurélia, Keravel, Olivier, Fribourg-Blanc, Luc-André, Mazetier, Pascale Chicha, Marco, Angelo, McLeod, Molly B, Portillo, Erin, Clark, Terry S, Judd, Scott, Feinberg, C Kirk, Benitez, Marie, Runyan, Candace, Hackett, Lindsey, Lafey, Scott, Richardson, Danielle, Vineyard, Sarah, Tefend Campbell, Mary, Dharajiya, Nilesh, Jensen, Taylor J, van den Boom, Dirk, Diaz, Jr, Luis A, Grosu, Daniel S, Polk, Arthur, Marsal, Kalle, Hicks, Susan Cho, Lytle, Katherine M, Holtvoigt, Lauren, Chibuk, Jason, Chorny, Ilya, Tsui, Dana W Y

    Published in PloS one (26-04-2022)
    “…Cancer is the leading cause of death in dogs, yet there are no established screening paradigms for early detection. Liquid biopsy methods that interrogate…”
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    Journal Article
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    Clinical validation of a next-generation sequencing-based multi-cancer early detection "liquid biopsy" blood test in over 1,000 dogs using an independent testing set: The CANcer Detection in Dogs by Flory, Andi, Kruglyak, Kristina M, Tynan, John A, McLennan, Lisa M, Rafalko, Jill M, Fiaux, Patrick Christian, Hernandez, Gilberto E, Marass, Francesco, Nakashe, Prachi, Ruiz-Perez, Carlos A, Fath, Donna M, Jennings, Thuy, Motalli-Pepio, Rita, Wotrang, Kate, McCleary-Wheeler, Angela L, Lana, Susan, Phillips, Brenda, Flesner, Brian K, Leibman, Nicole F, LaDue, Tracy, Tripp, Chelsea D, Coomber, Brenda L, Woods, J. Paul, Miller, Mairin, Aiken, Sean W, Wolf-Ringwall, Amber, Borgatti, Antonella, Kraska, Kathleen, Thomson, Christopher B, Kosanovich Cahalane, Alane, Murray, Rebecca L, Kisseberth, William C, Camps-Palau, Maria A, Floch, Franck, Beaudu-Lange, Claire, Klajer-Peres, Aurélia, Keravel, Olivier, Fribourg-Blanc, Luc-André, Mazetier, Pascale Chicha, Marco, Angelo, McLeod, Molly B, Portillo, Erin, Clark, Terry S, Judd, Scott, Feinberg, C. Kirk, Benitez, Marie, Runyan, Candace, Hackett, Lindsey, Lafey, Scott, Richardson, Danielle, Vineyard, Sarah, Tefend Campbell, Mary, Dharajiya, Nilesh, Jensen, Taylor J, van den Boom, Dirk, Diaz, Luis A, Grosu, Daniel S, Polk, Arthur, Marsal, Kalle, Hicks, Susan Cho, Lytle, Katherine M, Holtvoigt, Lauren, Chibuk, Jason, Chorny, Ilya, Tsui, Dana W. Y

    Published in PloS one (26-04-2022)
    “…Cancer is the leading cause of death in dogs, yet there are no established screening paradigms for early detection. Liquid biopsy methods that interrogate…”
    Get full text
    Journal Article
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    Abstract 3377: Liquid biopsy analysis reveals orthologs of actionable human cancer variants in dogs by Grosu, Daniel S., Chorny, Ilya, Kruglyak, Kristina M., Tynan, John A., Hicks, Susan C., Cohen, Todd A., O'Kell, Allison L., Rafalko, Jill M., Chibuk, Jason, McCleary-Wheeler, Angela L., Flory, Andi, Tsui, Dana W.

    Published in Cancer research (Chicago, Ill.) (04-04-2023)
    “…Abstract Genotype-matched therapeutics have become widely adopted in the management of human cancers and can be guided by testing tumor tissue or cell-free DNA…”
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