Associated Papers
Sustained HIV-1 remission after heterozygous CCR5Δ32 stem cell transplantation.
Gaebler C et al.
Nature, 2026
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome.
Romero VI et al.
Bmc Genomics, 2022
Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.
Kim SC et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2022
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Common variation of the NSD1 gene is associated with susceptibility to Hirschsprung's disease in Chinese Han population.
Yu XX et al.
Pediatric Research, 2021
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
García-Cárdenas JM et al.
Journal of Medical Case Reports, 2020
Characterizing rare and low-frequency height-associated variants in the Japanese population.
Akiyama M et al.
Nature Communications, 2019
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
Sher M et al.
The International Journal of Neuroscience, 2019
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
Tumorigenicity-associated characteristics of human iPS cell lines.
Yasuda S et al.
Plos One, 2018
NSD1- and NSD2-damaging mutations define a subset of laryngeal tumors with favorable prognosis.
Peri S et al.
Nature Communications, 2017
Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly.
Buxbaum JD et al.
Bmc Medical Genetics, 2007
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.
Cecconi M et al.
American Journal of Medical Genetics. Part A, 2005
Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.
Kurotaki N et al.
Human Mutation, 2003
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.
Türkmen S et al.
European Journal of Human Genetics : Ejhg, 2003
NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.
Douglas J et al.
American Journal of Human Genetics, 2003