Identification ofKLHL40mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence

Next Generation ◽

Identification of a novel de novo variant in OTX2 in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis

Ophthalmic Genetics ◽

10.1080/13816810.2021.2002915 ◽

2021 ◽

pp. 1-6

Author(s):

Maryam Rafati ◽

Faezeh Mohamadhashem ◽

Koosha Jalilian ◽

Fatemeh Hoseininasab ◽

Laya Fakhri ◽

...

Keyword(s):

Prenatal Diagnosis ◽

De Novo ◽

Next Generation ◽

De Novo Variant ◽

Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases

Diagnostic Pathology ◽

10.1186/s13000-019-0853-x ◽

2019 ◽

Vol 14 (1) ◽

Cited By ~ 9

Author(s):

Yan Liu ◽

Li Wang ◽

Yi-Ke Yang ◽

Ying Liang ◽

Tie-Juan Zhang ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Skeletal Dysplasia ◽

Next Generation ◽

TARGETED NEXT GENERATION SEQUENCING PID PANEL IDENTIFIES A NOVEL NONSENSE CARD11 MUTATION TREATED SUCCESSFULLY WITH PHENOIDENTICAL HEMATOPOIETIC STEM CELL TRANSPLANT WITHOUT CONDITIONING

10.26226/morressier.57bc1757d462b80290b4cfb3 ◽

2016 ◽

Author(s):

Bashayer Alrasheed

Keyword(s):

Stem Cell ◽

Hematopoietic Stem Cell ◽

Hematopoietic Stem Cell Transplant ◽

Stem Cell Transplant ◽

Cell Transplant ◽

Next Generation ◽

Hematopoietic Stem ◽

PATHOGENIC GENETIC VARIANTS IDENTIFIED BY TARGETED NEXT-GENERATION SEQUENCING IN SOME UNDEFINED PRIMARY IMMUNODEFICIENCY CASES (IZMIR EXPERIENCE)

10.26226/morressier.594a7d45d462b8028d89348d ◽

2017 ◽

Author(s):

Kutukculer Necil

Keyword(s):

Primary Immunodeficiency ◽

Genetic Variants ◽

Next Generation ◽

Faculty Opinions recommendation of Targeted next-generation sequencing of head and neck squamous cell carcinoma identifies novel genetic alterations in HPV+ and HPV- tumors.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718014371.793495250 ◽

2014 ◽

Author(s):

Jean-Pascal Machiels

Keyword(s):

Squamous Cell Carcinoma ◽

Cell Carcinoma ◽

Head And Neck ◽

Squamous Cell ◽

Genetic Alterations ◽

Neck Squamous Cell Carcinoma ◽

Next Generation ◽

Faculty Opinions recommendation of Targeted next-generation sequencing panel (ThyroSeq) for detection of mutations in thyroid cancer.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718087053.793516496 ◽

2016 ◽

Author(s):

Bernard Corvilain

Keyword(s):

Thyroid Cancer ◽

Next Generation ◽

Detection Of Mutations ◽

The mutation screening in candidate genes related to thyroid dysgenesis by targeted next‐generation sequencing panel in the Chinese congenital hypothyroidism

Clinical Endocrinology ◽

10.1111/cen.14577 ◽

2021 ◽

Author(s):

Rui‐Jia Zhang ◽

Guang‐lin Yang ◽

Feng Cheng ◽

Feng Sun ◽

Ya Fang ◽

...

Keyword(s):

Candidate Genes ◽

Congenital Hypothyroidism ◽

Mutation Screening ◽

Next Generation ◽

Thyroid Dysgenesis ◽

156 Identification of novel variants associated with feline hypertrophic cardiomyopathy (HCM) using targeted next-generation sequencing

Animal - science proceedings ◽

10.1016/j.anscip.2021.03.157 ◽

2021 ◽

Vol 12 (1) ◽

pp. 126

Author(s):

Jade Raffle ◽

Jose Novo Matos ◽

Perry Elliott ◽

David Connolly ◽

Virginia Luis Fuentes ◽

...

Keyword(s):

Hypertrophic Cardiomyopathy ◽

Next Generation ◽

Novel Variants ◽

Development and application of the Faba_bean_130K targeted next-generation sequencing SNP genotyping platform based on transcriptome sequencing

Theoretical and Applied Genetics ◽

10.1007/s00122-021-03885-0 ◽

2021 ◽

Author(s):

Chenyu Wang ◽

Rong Liu ◽

Yujiao Liu ◽

Wanwei Hou ◽

Xuejun Wang ◽

...

Keyword(s):

Transcriptome Sequencing ◽

Snp Genotyping ◽

Next Generation ◽

Genotyping Platform ◽

Real‐life targeted next‐generation sequencing for lymphoma diagnosis over 1 year from the French Lymphoma Network

British Journal of Haematology ◽

10.1111/bjh.17395 ◽

2021 ◽

Author(s):

Côme Bommier ◽

Claire Mauduit ◽

Juliette Fontaine ◽

Estelle Bourbon ◽

Pierre Sujobert ◽

...

Keyword(s):

Real Life ◽

Next Generation ◽