Sage Journals: Discover world-class research

Open access

Review article

First published 2014

Review of Current Methods,Applications,and Data Management for the Bioinformatics Analysis of Whole Exome Sequencing

Riyue Bao, Lei Huang, Jorge Andrade [...]

Cancer Informatics

Open access

Case report

First published 2023

Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome

Joana Pereira-Nunes, Ana Vilan, Ana Grangeia [...]

Journal of Investigative Medicine High Impact Case Reports

Open access

Review article

First published 2020

Practical guide to genetic screening for inherited eye diseases

Cécile Méjécase, Samantha Malka, Zeyu Guan [...]

Therapeutic Advances in Ophthalmology

Retricted access

Case report

First published 2023-12

Dominant Optic Atrophy With Varied Phenotype in a Family of Eastern India: A Case Report of a Rare Mutation

Camelia Porey, Binaya Kumar Jaiswal

Indian Journal of Clinical Medicine

Retricted access

Research article

First published 2015-4

Genetic Association of ARHGAP21 Gene Variant with Mandibular Prognathism

L. Perillo, A. Monsurrò, E. Bonci [...]

Journal of Dental Research

Free access

Other

First published 2014

A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome)

Yasser Al-Sarraj, Tawfeg Ben-Omran, Mohammed Tolefat [...]

Journal of Inborn Errors of Metabolism and Screening

Free access

Research article

First published 2017

Early-Onset Myopathies: Clinical Findings,Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany

K. Vill, A. Blaschek, D. Gläser [...]

Journal of Neuromuscular Diseases

Open access

Review article

First published 2014

The Challenge of Next Generation Sequencing in the Context of Neuromuscular Diseases

Monkol Lek, Daniel MacArthur

Journal of Neuromuscular Diseases

Open access

Other

First published 2016

RefCNV: Identification of Gene-Based Copy Number Variants Using Whole Exome Sequencing

Lun-Ching Chang, Biswajit Das, Chih-Jian Lih [...]

Cancer Informatics

Open access

Research article

First published 2022

Different Strategies for Counting the Depth of Coverage in Copy Number Variation Calling Tools

Wiktor Kuśmirek

Bioinformatics and Biology Insights

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