Associated Papers
Genetic Heterogeneity in Four Probands Reveals HGSNAT, KDM6B, LMNA and WFS1 Related Neurodevelopmental Disorders.
Mudassir BU et al.
Biomedicines, 2024
Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.
Magallón-Lorenz M et al.
Iscience, 2023
36818284 (PubMed )
Supplement: mmc2.xlsx › HS-PSS
Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.
Lin D et al.
Bmc Medical Genomics, 2023
36703207 (PubMed )
Supplement: 12920_2023_1442_MOESM3_ESM.xlsx › Sheet1
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table1.XLS › Sheet
ATR represents a therapeutic vulnerability in clear cell renal cell carcinoma.
Seidel P et al.
Jci Insight, 2022
36413415 (PubMed )
Supplement: jciinsight-7-156087-s060.xlsx › 786O
RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas
Zhao L et al.
Genes, 2022
35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S1.The_information_of_annotated_gene_mutations1.xlsx › ___
NPM1 gene mutations can be confidently identified in blood DNA months before de novo AML onset.
Quiros PM et al.
Blood Advances, 2022
34920452 (PubMed )
Supplement: advancesADV2021005927-suppl1.pdf
Clonal evidence for the development of neuroblastoma with extensive copy-neutral loss of heterozygosity arising in a mature teratoma.
Ono R et al.
Cancer Science, 2021
33934450 (PubMed )
Supplement: CAS-112-2921-s001.xlsx › Dataset_S1
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Provenzano A et al.
Human Genetics, 2021
A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.
Zlotina A et al.
Bmc Medical Genomics, 2020
33218365 (PubMed )
Supplement: 12920_2020_821_MOESM1_ESM.xlsx › Sheet_1
Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report.
López-Cortés A et al.
Bmc Medical Genomics, 2020
32807182 (PubMed )
Supplement: 12920_2020_764_MOESM4_ESM.xlsx › Table_S4
Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.
Zhou Z et al.
Bmc Medical Genetics, 2018
30097038 (PubMed )
Supplement: 12881_2018_595_MOESM1_ESM.xlsx › Sheet2
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.
Patel RM et al.
Cold Spring Harbor Molecular Case Studies, 2017
Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.
Raaijmakers MI et al.
Oncotarget, 2016
27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_1_early_met_1
Type II enteropathy-associated T-cell lymphoma features a unique genomic profile with highly recurrent SETD2 alterations.
Roberti A et al.
Nature Communications, 2016
27600764 (PubMed )
Supplement: ncomms12602-s2.xlsx › Supplementary_Data_2
Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome.
Ackerman JP et al.
Congenital Heart Disease, 2016
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