Search results: Sage Journals

Restricted accessResearch articleFirst published 2026

Enhancing Genotype–Phenotype Correlation in Pediatric PKU: A Comparative Analysis of Hotspot Mutations and Prediction Models Across 12 Chinese Regions

Li Zhang, Jie Ren, Jilong Su [...]

Genetic Testing and Molecular Biomarkers

Restricted accessResearch articleFirst published January, 2023

New Noncoding Base Pair Mutation at the Identical Locus as the Original NCMD/MCDR1 in a Mexican Family,Suggesting a Mutational Hotspot

Kent W. Small, Stijn Van de Sompele, Jessica Avetisjan [...]

Journal of VitreoRetinal Diseases

Restricted accessResearch articleFirst published June, 2020

DICER1 Hotspot Mutations in Pleuropulmonary Blastoma: A Case Series From a Tertiary Center

O Hurdogan, I Yilmaz, SB Bay [...]

Pediatric and Developmental Pathology

Free accessResearch articleFirst published May, 2008

Identification of Genetic Mutations in Australian Malignant Hyperthermia Families Using Sequencing of Ryr1 Hotspots

R. L. Gillies, A. R. Bjorksten, M. Davis [...]

Anaesthesia and Intensive Care

Open accessResearch articleFirst published April, 2023

In Vitro CRISPR-Cas12a-Based Detection of Cancer-Associated TP53 Hotspot Mutations Beyond the crRNA Seed Region

Kavish A.V. Kohabir, Lars O. Nooi, Arjen Brink [...]

The CRISPR Journal

Restricted accessResearch articleFirst published January, 2016

Chromogenic Assay for Lung Cancer-Related EGFR Exon 19 Hotspot Deletion Mutations

Andy K. Zhang

Genetic Testing and Molecular Biomarkers

Restricted accessCase reportFirst published May, 2026

A Distinct Subtype of Uterine Sarcoma: Case Report of a High-Grade Uterine Sarcoma With Myogenic Differentiation Harboring a PDGFRB Hotspot Mutation

Glorimar Rivera, Laura Huang, Hao Chen

International Journal of Surgical Pathology

Restricted accessLetterFirst published August, 2009

Lack of GNAQ Hotspot Mutation in Papillary Thyroid Carcinomas

Michiko Matsuse, Norisato Mitsutake, Eijun Nishihara [...]

Thyroid®

Open accessResearch articleFirst published September, 2018

Targeted next-generation sequencing of 50 cancer-related genes in Japanese patients with oral squamous cell carcinoma

Takafumi Nakagaki, Miyuki Tamura, Kenta Kobashi [...]

Tumor Biology

Open accessResearch articleFirst published 2026

Low Frequency of Pathogenic Variants in BRCA1 Exons 11/20 and BRCA2 Exon 11 Suggests Divergent Mutational Hotspots in Sudanese Breast Cancer Patients: A Case-Control Study

Hadia Abass Eltaib Ahmed, Babbiker Mohammed Taher Gorish, Ghanem Mohammed Mahjaf [...]

Breast Cancer: Basic and Clinical Research

Restricted accessResearch articleFirst published 2026

Enhancing Genotype–Phenotype Correlation in Pediatric PKU: A Comparative Analysis of Hotspot Mutations and Prediction Models Across 12 Chinese Regions

Li Zhang, Jie Ren, Jilong Su [...]

Genetic Testing and Molecular Biomarkers

Restricted accessResearch articleFirst published January, 2023

New Noncoding Base Pair Mutation at the Identical Locus as the Original NCMD/MCDR1 in a Mexican Family,Suggesting a Mutational Hotspot

Kent W. Small, Stijn Van de Sompele, Jessica Avetisjan [...]

Journal of VitreoRetinal Diseases

Restricted accessResearch articleFirst published June, 2020

DICER1 Hotspot Mutations in Pleuropulmonary Blastoma: A Case Series From a Tertiary Center

O Hurdogan, I Yilmaz, SB Bay [...]

Pediatric and Developmental Pathology

Free accessResearch articleFirst published May, 2008

Identification of Genetic Mutations in Australian Malignant Hyperthermia Families Using Sequencing of Ryr1 Hotspots

R. L. Gillies, A. R. Bjorksten, M. Davis [...]

Anaesthesia and Intensive Care

Open accessResearch articleFirst published April, 2023

In Vitro CRISPR-Cas12a-Based Detection of Cancer-Associated TP53 Hotspot Mutations Beyond the crRNA Seed Region

Kavish A.V. Kohabir, Lars O. Nooi, Arjen Brink [...]

The CRISPR Journal

Restricted accessResearch articleFirst published January, 2016

Chromogenic Assay for Lung Cancer-Related EGFR Exon 19 Hotspot Deletion Mutations

Andy K. Zhang

Genetic Testing and Molecular Biomarkers

Restricted accessCase reportFirst published May, 2026

A Distinct Subtype of Uterine Sarcoma: Case Report of a High-Grade Uterine Sarcoma With Myogenic Differentiation Harboring a PDGFRB Hotspot Mutation

Glorimar Rivera, Laura Huang, Hao Chen

International Journal of Surgical Pathology

Restricted accessLetterFirst published August, 2009

Lack of GNAQ Hotspot Mutation in Papillary Thyroid Carcinomas

Michiko Matsuse, Norisato Mitsutake, Eijun Nishihara [...]

Thyroid®

Open accessResearch articleFirst published September, 2018

Targeted next-generation sequencing of 50 cancer-related genes in Japanese patients with oral squamous cell carcinoma

Takafumi Nakagaki, Miyuki Tamura, Kenta Kobashi [...]

Tumor Biology

Open accessResearch articleFirst published 2026

Low Frequency of Pathogenic Variants in BRCA1 Exons 11/20 and BRCA2 Exon 11 Suggests Divergent Mutational Hotspots in Sudanese Breast Cancer Patients: A Case-Control Study

Hadia Abass Eltaib Ahmed, Babbiker Mohammed Taher Gorish, Ghanem Mohammed Mahjaf [...]

Breast Cancer: Basic and Clinical Research