Literature DB >> 31911674

The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG).

Kristin G Monaghan1, Natalia T Leach2, Dawn Pekarek3, Priya Prasad4, Nancy C Rose5.   

Abstract

Entities:  

Keywords:  exome; fetal anomalies; prenatal diagnosis

Mesh：

Year:  2020        PMID： 31911674     DOI： 10.1038/s41436-019-0731-7

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


× No keyword cloud information.
  32 in total

1.  Intrafamilial Phenotypic Heterogeneity in a Chinese Family with a POLR1D p.Q31Rfs*10 Variant: A Challenge in Prenatal Diagnosis.

Authors:  Yan-Dong Yang; Li Zhen; Dong-Zhi Li
Journal:  Mol Syndromol       Date:  2022-02-08

2.  Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach.

Authors:  Shannon Rego; Hannah Hoban; Simon Outram; Astrid N Zamora; Flavia Chen; Nuriye Sahin-Hodoglugil; Beatriz Anguiano; Matthew Norstad; Tiffany Yip; Billie Lianoglou; Teresa N Sparks; Mary E Norton; Barbara A Koenig; Anne M Slavotinek; Sara L Ackerman
Journal:  Genet Med       Date:  2022-04-08       Impact factor: 8.864

3.  Postpartum women's attitudes to disclosure of adult-onset conditions in pregnancy.

Authors:  Vitalia Libman; Michal Macarov; Yechiel Friedlander; Sidra Goldman-Mellor; Salomon Israel; Drorith Hochner-Celnikier; Yishai Sompolinsky; Uri Pinchas Dior; Michael Osovsky; Lina Basel-Salmon; Arnon Wiznitzer; Yehuda Neumark; Vardiella Meiner; Ayala Frumkin; Shiri Shkedi-Rafid; Hagit Hochner
Journal:  Prenat Diagn       Date:  2022-05-04       Impact factor: 3.242

4.  Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service [version 2; peer review: 2 approved].

Authors:  Melissa Hill; Sian Ellard; Jane Fisher; Naomi Fulop; Marian Knight; Mark Kroese; Jean Ledger; Kerry Leeson-Beevers; Alec McEwan; Dominic McMullan; Rhiannon Mellis; Stephen Morris; Michael Parker; Dagmar Tapon; Emma Baple; Laura Blackburn; Asya Choudry; Caroline Lafarge; Hannah McInnes-Dean; Michelle Peter; Rema Ramakrishnan; Lauren Roberts; Beverly Searle; Emma Smith; Holly Walton; Sarah L Wynn; Wing Han Wu; Lyn S Chitty
Journal:  NIHR Open Res       Date:  2022-07-18

5.  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).

Authors:  David T Miller; Kristy Lee; Adam S Gordon; Laura M Amendola; Kathy Adelman; Sherri J Bale; Wendy K Chung; Michael H Gollob; Steven M Harrison; Gail E Herman; Ray E Hershberger; Teri E Klein; Kent McKelvey; C Sue Richards; Christopher N Vlangos; Douglas R Stewart; Michael S Watson; Christa Lese Martin
Journal:  Genet Med       Date:  2021-05-20       Impact factor: 8.822

6.  Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy.

Authors:  Mirjam Plantinga; Lauren Zwienenberg; Eva van Dijk; Hanna Breet; Janouk Diphoorn; Julia El Mecky; Katelijne Bouman; Joke Verheij; Erwin Birnie; Adelita V Ranchor; Nicole Corsten-Janssen; Irene M van Langen
Journal:  Prenat Diagn       Date:  2021-10-22       Impact factor: 3.242

7.  Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes.

Authors:  Leandra K Tolusso; Paige Hazelton; Beatrix Wong; Daniel T Swarr
Journal:  Genet Med       Date:  2021-01-13       Impact factor: 8.822

8.  Predictive Prenatal Diagnosis for Infantile-onset Inflammatory Bowel Disease Because of Interleukin-10 Signalling Defects.

Authors:  Ziqing Ye; Wenhui Hu; Bingbing Wu; Yueping Zhang; Caixia Lei; Isabelle Williams; Dror S Shouval; Hirokazu Kanegane; Kyung Mo Kim; Lissy de Ridder; Neil Shah; Galina Ling; Baruch Yerushalmi; Daniel Kotlarz; Scott Snapper; Ruth Horn; Christoph Klein; Aleixo M Muise; Ying Huang; Holm H Uhlig
Journal:  J Pediatr Gastroenterol Nutr       Date:  2021-02-01       Impact factor: 3.288

9.  Molecular diagnostic in fetuses with isolated congenital anomalies of the kidney and urinary tract by whole-exome sequencing.

Authors:  Xiaoyan Zhou; Yan Wang; Binbin Shao; Chen Wang; Ping Hu; Fengchang Qiao; Zhengfeng Xu
Journal:  J Clin Lab Anal       Date:  2020-08-11       Impact factor: 2.352

10.  Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A).

Authors:  Jing Zhang; Wen-Qi Chen; Si-Wen Wang; Shao-Xiong Wang; Mei Yu; Qing Guo; Ya-Dong Yu
Journal:  Mol Genet Genomic Med       Date:  2020-08-07       Impact factor: 2.183
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.