Sage Journals: Discover world-class research

Retricted access

Research article

First published 2020-2

Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability

Jelena Ruml Stojanovic, Aleksandra Miletic, Borut Peterlin [...]

Journal of Child Neurology

Open access

Research article

First published 2009-06

Semi-Automated Unidirectional Sequence Analysis for Mutation Detection in a Clinical Diagnostic Setting

Sian Ellard, Beverley Shields, Carolyn Tysoe [...]

Genetic Testing and Molecular Biomarkers

Open access

Research article

First published 2022-5

NUT Carcinoma: A Clinical,Morphological and Immunohistochemical Mimicker—The Role of RNA Sequencing in the Diagnostic Procedure

Gorana Gasljevic, Matthias S. Matter, Olga Blatnik [...]

International Journal of Surgical Pathology

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Research article

First published 2025-07

Clinical Characteristics of Five Cases of Chlamydia psittaci Pneumonia Diagnosed Using Metagenomics Next-Generation Sequencing

Wei Wang, Chun-Liang Yan, Qi-Shan Xue

Vector-Borne and Zoonotic Diseases

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Research article

First published 2025-05

Whole Exome Sequencing Helps Diagnose Familial Anophthalmia in Zimbabwe: A Call from the Field to Fund Clinical Genomics for Planetary Health

Nosipho Mabizela, Nyarai D. Soko, Louisa R.C. Mudawarima [...]

OMICS: A Journal of Integrative Biology

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Research article

First published 2022-05

Diagnostic Yield and Cost-Benefit When Utilizing Clinical Whole Genome Sequencing

Vani Rajan, Sharon F. Terry, Jessica Green [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2021-8

Prenatal Diagnosis of Robin Sequence: Sensitivity,Specificity,and Clinical Relevance of an Index for Micrognathia

Teresa Kruse, Julia Neuschulz, Lucas Wilhelm [...]

The Cleft Palate Craniofacial Journal

Open access

Research article

First published 2025-10

Clinical characteristics and outcomes of Chlamydia psittaci pneumonia: Insights from targeted next-generation sequencing diagnosis

Zhixiong He, Xuelian Chen, Ruixiang Chu [...]

Science Progress

Free access

Review article

First published 2016-4

The implications of whole-genome sequencing in the control of tuberculosis

Robyn S. Lee, Marcel A. Behr

Therapeutic Advances in Infectious Disease

Retricted access

Research article

First published 2016-6

Whole Exome Sequencing in Pediatric Neurology Patients

Danielle Nolan, Martha Carlson

Journal of Child Neurology

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