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Retricted access

Research article

First published 2016-6

Whole Exome Sequencing in Pediatric Neurology Patients

Danielle Nolan, Martha Carlson

Journal of Child Neurology

Retricted access

Research article

First published 2016-12

Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients

Maya Kuperberg, Dorit Lev, Lubov Blumkin [...]

Journal of Child Neurology

Open access

Research article

First published 2022

MutaXome: A Novel Database for Identified Somatic Variations of In silico Analyzed Cancer Exome Datasets

P Padmavathi, K Chandrashekar, Anagha S Setlur [...]

Cancer Informatics

Retricted access

Case report

First published 2015-7

Whole-Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death

Hector U. Lopez, Eden Haverfield, Wendy K. Chung

Pediatric and Developmental Pathology

Free access

Research article

First published 2019

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

Dineke Westra, Meyke I. Schouten, Bas C. Stunnenberg [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2020

Centenarian Exomes as a Tool for Evaluating the Clinical Relevance of Germline Tumor Suppressor Mutations

Lubomir Balabanski, Dimitar Serbezov, Dragomira Nikolova [...]

Technology in Cancer Research & Treatment

Open access

Case report

First published 2015-2

Whole Exome Sequencing of a Patient with Metastatic Hidradenocarcinoma and Review of the Literature

Eva Gupta, Kimberly J. Guthrie, Murli Krishna [...]

Rare Tumors

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Research article

First published 2025

Exome Sequencing Studies in Syndromic Patients With Cleft Lip and/or Palate: Systematic Review

Diana Cárdenas-Nieto, Ignacio Briceño-Balcázar, Julio Martínez-Lozano [...]

The Cleft Palate Craniofacial Journal

Retricted access

Research article

First published 2020-6

Leukodystrophies and Genetic Leukoencephalopathies in Children Specified by Exome Sequencing in an Expanded Gene Panel

Bindu Parayil Sankaran, Madhu Nagappa, Shwetha Chiplunkar [...]

Journal of Child Neurology

Retricted access

Research article

First published 2026-2

Multi-ancestry exome-wide study identifies variants associated with Alzheimer's disease protection

Zainab Khurshid, John J Farrell, Tong Tong [...]

Journal of Alzheimer’s Disease

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