Genomics-first Evaluation of Phenotypes Associated With Pathogenic or Likely Pathogenic Transthyretin Variants

被引:0
|
作者
Carry, Brendan
Young, Katelyn
Kelly, Melissa
Sturm, Amy C.
Avila, Jose D.
Fornwalt, Brandon
Haggerty, Christopher M.
机构
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
A13585
引用
收藏
页数:2
相关论文
共 50 条
  • [1] Genome-first approach to characterize the prevalence and associated cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants
    De Andrade, Kelvin Cesar
    Strande, Natasha T.
    Kim, Jung
    Haley, Jeremy S.
    Hatton, Jessica N.
    Frone, Megan N.
    Khincha, Payal P.
    Thone, Gretchen M.
    Mirshahi, Uyenlinh L.
    Schneider, Cynthia
    Desai, Heena
    Dove, James T.
    Smelser, Diane T.
    Levine, Arnold J.
    Maxwell, Kara N.
    Stewart, Douglas
    Carey, David J.
    Savage, Sharon A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 576 - 577
  • [2] Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis
    Patel, Jignesh K.
    Rosen, Andrew M.
    Chamberlin, Adam
    Feldmann, Benjamin
    Antolik, Christian
    Zimmermann, Heather
    Johnston, Tami
    Narayana, Arvind
    NEUROLOGY AND THERAPY, 2022, 11 (04) : 1595 - 1607
  • [3] Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis
    Jignesh K. Patel
    Andrew M. Rosen
    Adam Chamberlin
    Benjamin Feldmann
    Christian Antolik
    Heather Zimmermann
    Tami Johnston
    Arvind Narayana
    Neurology and Therapy, 2022, 11 : 1595 - 1607
  • [4] Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants
    Haggerty, Christopher M.
    Damrauer, Scott M.
    Levin, Michael G.
    Birtwell, David
    Carey, David J.
    Golden, Alicia M.
    Hartzel, Dustin N.
    Hu, Yirui
    Judy, Renae
    Kelly, Melissa A.
    Kember, Rachel L.
    Kirchner, H. Lester
    Leader, Joseph B.
    Liang, Lusha
    McDermott-Roe, Chris
    Babu, Apoorva
    Morley, Michael
    Nealy, Zachariah
    Person, Thomas N.
    Pulenthiran, Arichanah
    Small, Aeron
    Smelser, Diane T.
    Stahl, Richard C.
    Sturm, Amy C.
    Williams, Heather
    Baras, Aris
    Margulies, Kenneth B.
    Cappola, Thomas P.
    Dewey, Frederick E.
    Verma, Anurag
    Zhang, Xinyuang
    Correa, Adolfo
    Hall, Michael E.
    Wilson, James G.
    Ritchie, Marylyn D.
    Rader, Daniel J.
    Murray, Michael F.
    Fornwalt, Brandon K.
    Arany, Zoltan
    CIRCULATION, 2019, 140 (01) : 42 - 54
  • [5] Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants
    de Andrade, Kelvin C.
    Strande, Natasha T.
    Kim, Jung
    Haley, Jeremy S.
    Hatton, Jessica N.
    Frone, Megan N.
    Khincha, Payal P.
    Thone, Gretchen M.
    Mirshahi, Uyenlinh L.
    Schneider, Cynthia
    Desai, Heena
    Dove, James T.
    Smelser, Diane T.
    Penn Med Biobank, Penn Medicine
    Regeneron Genetics, Arnold J.
    Levine, Arnold J.
    Maxwell, Kara N.
    Stewart, Douglas R.
    Carey, David J.
    Savage, Sharon A.
    HUMAN GENETICS AND GENOMICS ADVANCES, 2024, 5 (01):
  • [6] Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population
    Bourfiss, Mimount
    van Vugt, Marion
    Alasiri, Abdulrahman, I
    Ruijsink, Bram
    van Setten, Jessica
    Schmidt, A. Floriaan
    Dooijes, Dennis
    Puyol-Anton, Esther
    Velthuis, Birgitta K.
    van Tintelen, J. Peter
    te Riele, Anneline S. J. M.
    Baas, Annette F.
    Asselbergs, Folkert W.
    CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2022, 15 (06): : 530 - 541
  • [7] Germline variants in urothelial carcinoma: Analysis of pathogenic and likely pathogenic variants in 645 subjects
    Abou Alaiwi, Sarah
    Nassar, Amin
    Mouw, Kent William
    Kwiatkowski, David J.
    Choueiri, Toni K.
    Curran, Catherine
    Van Allen, Eliezer Mendel
    Esplin, Edward D.
    Yang, Shan
    Garber, Judy Ellen
    Rana, Huma Q.
    Sonpavde, Guru
    JOURNAL OF CLINICAL ONCOLOGY, 2019, 37 (15)
  • [8] Incidence of pathogenic, likely pathogenic, and uncertain ALS variants in a clinic cohort
    Roggenbuck, Jennifer
    Palettas, Marilly
    Vicini, Leah
    Patel, Radha
    Quick, Adam
    Kolb, Stephen J.
    NEUROLOGY-GENETICS, 2020, 6 (01)
  • [9] Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies
    Kheir, Valeria
    Cortes-Gonzalez, Vianney
    Zenteno, Juan C.
    Schorderet, Daniel F.
    HUMAN MUTATION, 2019, 40 (06) : 675 - 693
  • [10] Three Newly Recognized Likely Pathogenic Variants of the TTR Gene Causing Hereditary Transthyretin Amyloidosis
    Patel, J.
    Rosen, A.
    Chamberlin, A.
    Feldmann, B.
    Antolik, C.
    Zimmermann, H.
    Johnston, T.
    Narayana, A.
    EUROPEAN JOURNAL OF NEUROLOGY, 2021, 28 : 71 - 71