Associated Papers
A novel pathogenic DICER1 gene variant is associated with hereditary multinodular goiter in an Argentine family as evidenced by clinical, biochemical and molecular genetic analysis.
Targovnik HM et al.
Endocrine, 2025
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1
Identification of potential pathogenic mutations in Chinese children with first branchial cleft anomalies detected by whole-exome sequencing.
Yang Y et al.
Pediatric Investigation, 2021
34589676 (PubMed )
Supplement: PED4-5-211-s001.pdf
Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.
Nagasawa S et al.
Communications Biology, 2021
33795819 (PubMed )
Supplement: 42003_2021_1959_MOESM5_ESM.xlsx › CaseB
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Zhou Y et al.
Bmc Medical Genetics, 2020
32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL1
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
Vaz FM et al.
Brain : a Journal of Neurology, 2019
31637422 (PubMed )
Supplement: awz291_supplementary_data.zip › awz291-Suppl_data › Supplementary_Data2.pdf
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 2._minor_allele_frequency_1
Molecular characterization and integrative genomic analysis of a panel of newly established penile cancer cell lines.
Zhou QH et al.
Cell Death & Disease, 2018
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › b__Freq_TP096
WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion.
Huynh MT et al.
American Journal of Medical Genetics. Part A, 2017
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00017-Table_S23.xlsx › Pindel
Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency.
Seidel MG et al.
The Journal of Allergy and Clinical Immunology, 2015
Somatic mutations in DROSHA and DICER1 impair microRNA biogenesis through distinct mechanisms in Wilms tumours.
Rakheja D et al.
Nature Communications, 2014
25190313 (PubMed )
Supplement: ncomms5802-s3.xlsx › Sheet1
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