Exome sequencing in prenatal diagnosis: results from 88 cases

被引:0
|
作者
Ranza, Emmanuelle [1 ]
Blanc, Xavier [1 ]
Santoni, Federico [1 ]
Guerry, Frederic [1 ]
Conrad, Bernard [2 ]
Eperon, Isabelle [3 ]
Tissot, Cecile [4 ]
Deluen, Cecile [2 ]
Araud, Tanguy [2 ]
Baerlocher, Loic [2 ]
Martin, Yasmine Sayegh [5 ]
Muller-Brochut, Anne-Claude [6 ]
Bisch, Christian [3 ]
Fluss, Joel [7 ]
Pellegrinelli, Jean-Marie [7 ]
Carrasco, Marta [8 ]
Quibel, Thibaud [9 ]
Lacroix, Sylvie [9 ]
Extermann, Philippe [3 ]
Pescia, Graziano [10 ]
Susini, Romaine Robyr [9 ]
Antonarakis, Stylianos E. [1 ]
机构
[1] Swiss Inst Genom Med, Medigenome, Geneva, Switzerland
[2] Genesupport, Geneva, Switzerland
[3] Dianecho, Geneva, Switzerland
[4] Clin Grangettes, Geneva, Switzerland
[5] Ctr Imagerie Jean Violette, Geneva, Switzerland
[6] Ctr GynEcho, Fribourg, Switzerland
[7] HUG, Geneva, Switzerland
[8] GHOL, Nyon, Switzerland
[9] EchoFemme, Geneva, Switzerland
[10] Genesupport, Lausanne, Switzerland
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
P01.077.A
引用
收藏
页码:110 / 110
页数:1
相关论文
共 50 条
  • [1] Exome sequencing in prenatal diagnosis: results from 156 cases
    Ranza, Emmanuelle
    Blanc, Xavier
    Santoni, Federico
    Afshar, Katayoun
    Frederic, Guerry
    Conrad, Bernard
    Eperon, Isabelle
    Tissot, Cecile
    Deluen, Cecile
    Araud, Tanguy
    Baerlocher, Loic
    Sayegh-Martin, Yasmine
    Muller-Brochut, Anne-Claude
    Bisch, Christian
    Rieder, Wawrzyniec
    Fluss, Joel
    Pellegrinelli, Jean-Marie
    Carrasco, Marta
    Quibel, Thibaud
    Lacroix, Sylvie
    Extermann, Philippe
    Pescia, Graziano
    Susini, Romaine Robyr
    Antonarakis, Stylianos
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 358 - 358
  • [2] Prenatal Exome sequencing: results from 411 cases in Switzerland
    Ranza, Emmanuelle
    Blanc, Xavier
    Santoni, Federico
    Redin, Claire
    Patxot, Marion
    Carminho, Maria Teresa
    Frederic, Guerry
    Conrad, Bernard
    Tissot, Cecile
    Deluen, Cecile
    Araud, Tanguy
    Baerlocher, Loic
    Meleu, Audrey
    Sayegh-Martin, Yasmine
    Muller-Brochut, Anne-Claude
    Bisch, Christian
    Afshar, Katayoun
    Cotado, Marta
    Berkane, Nadia
    Belfiore, Marco
    Marcelli, Fabienne
    Fodstad, Heidi
    Krueger, Marion
    Bena, Frederique
    Quteineh, Lina
    Capanna, Federica
    Pellegrinelli, Jean-Marie
    Carrasco, Marta
    Beurret, Nathalie
    Barraud, Chloe
    Quibel, Thibaud
    Lacroix, Sylvie
    Meyer, Nicole Jastrow
    Rieder, Wawrzyniec
    Eperon, Isabelle
    Susini, Romaine Robyr
    Antonarakis, Stylianos
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1316 - 1317
  • [3] Whole exome sequencing (WES) in prenatal diagnosis for carefully selected cases
    Yadava, Stacy M.
    Ashkinadze, Elena
    AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2017, 216 (01) : S87 - S88
  • [4] Exome sequencing and the impact on prenatal diagnosis
    Castle, B.
    Kivuva, E.
    Turnpenny, P.
    Parker, M.
    Ellard, S.
    BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2015, 122 : 46 - 46
  • [5] Prenatal diagnosis of Costello Syndrome by exome sequencing
    Christopoulou, G.
    Oikonomaki, A.
    Samara, S.
    Velissariou, V.
    Stavrou, A.
    Constantoulakis, P.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1874 - 1875
  • [6] Exome Sequencing and the Potential for Improved Prenatal Diagnosis and Counselling
    Chitty, L.
    AUSTRALIAN & NEW ZEALAND JOURNAL OF OBSTETRICS & GYNAECOLOGY, 2016, 56 : 13 - 13
  • [7] Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis
    Sparks, Teresa N.
    Lianoglou, Billie R.
    Adami, Rebecca R.
    Pluym, Ilina D.
    Holliman, Kerry
    Duffy, Jennifer
    Downum, Sarah L.
    Patel, Sachi
    Faubel, Amanda
    Boe, Nina M.
    Field, Nancy T.
    Murphy, Aisling
    Laurent, Louise C.
    Jolley, Jennifer
    Uy, Cherry
    Slavotinek, Anne M.
    Devine, Patrick
    Hodoglugil, Ugur
    Van Ziffle, Jessica
    Sanders, Stephan J.
    MacKenzie, Tippi C.
    Norton, Mary E.
    NEW ENGLAND JOURNAL OF MEDICINE, 2020, 383 (18): : 1746 - 1756
  • [8] Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities
    Drury, Suzanne
    Williams, Hywel
    Trump, Natalie
    Boustred, Christopher
    Lench, Nicholas
    Scott, Richard H.
    Chitty, Lyn S.
    PRENATAL DIAGNOSIS, 2015, 35 (10) : 1010 - 1017
  • [9] The role of chromosomal microarray and exome sequencing in prenatal diagnosis
    Chau, Matthew Hoi Kin
    Choy, Kwong Wai
    CURRENT OPINION IN OBSTETRICS & GYNECOLOGY, 2021, 33 (02) : 148 - 155
  • [10] Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis
    Sparks, Teresa N.
    Lianoglou, Billie R.
    Adami, Rebecca R.
    Pluym, Ilina D.
    Holliman, Kerry
    Duffy, Jennifer
    Downum, Sarah L.
    Patel, Sachi
    Faubel, Amanda
    Boe, Nina M.
    Field, Nancy T.
    Murphy, Aisling
    Laurent, Louise C.
    Jolley, Jennifer
    Uy, Cherry
    Slavotinek, Anne M.
    Devine, Patrick
    Hodoglugil, Ugur
    Van Ziffle, Jessica
    Sanders, Stephan J.
    MacKenzie, Tippi C.
    Norton, Mary E.
    OBSTETRICAL & GYNECOLOGICAL SURVEY, 2021, 76 (03) : 139 - 141