Associated Papers
Pathogenic germline variants in cancer predisposition genes in patients with multiple primary cancers in an Asian population and the role of extended panel genetic testing.
Cheo SW et al.
Esmo Open, 2025
40068381 (PubMed )
Supplement: mmc1.xlsx › All_positive
Impact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia.
Meng X et al.
Blood Advances, 2024
Coexistence of Bloom Syndrome and Kostmann Disease and a Novel Mutation.
Pekpak Sahinoglu E et al.
Journal of Pediatric Hematology/oncology, 2024
HAX1-related congenital neutropenia: Long-term observation in paediatric and adult patients enrolled in the European branch of the Severe Chronic Neutropenia International Registry (SCNIR).
Pogozhykh D et al.
British Journal of Haematology, 2023
Single-cell sequencing reveals CD133+CD44--originating evolution and novel stemness related variants in human colorectal cancer.
Zhang X et al.
Ebiomedicine, 2022
35785618 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_2b
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.
Dai D et al.
Archives of Disease in Childhood, 2022
34134972 (PubMed )
Supplement: archdischild-2021-322058supp001.pdf
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
Kostmann Syndrome With Neurological Abnormalities: A Case Report and Literature Review.
Lyu B et al.
Frontiers in Pediatrics, 2020
Novel HAX1 Gene Mutation in a Vietnamese Boy with Severe Congenital Neutropenia.
Tran TT et al.
Case Reports in Pediatrics, 2018
Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.
Roques G et al.
Pediatric Blood & Cancer, 2014
Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.
Lanciotti M et al.
Haematologica, 2010
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.
Germeshausen M et al.
Blood, 2008
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