Associated Papers
Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.
Pasternak Y et al.
The Journal of Allergy and Clinical Immunology. Global, 2024
38800615 (PubMed )
Supplement: mmc2.xlsx › P3-dominant
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf
Distinct Genetically Determined Origins of Myd88/BCL2-Driven Aggressive Lymphoma Rationalize Targeted Therapeutic Intervention Strategies.
Flümann R et al.
Blood Cancer Discovery, 2023
36346827 (PubMed )
Supplement: bcd-22-0007_table_s6_suppst6.xlsx › E_Mut_Pat.__4
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, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Cukier HN et al.
Npj Parkinson's Disease, 2022
35768426 (PubMed )
Supplement: 41531_2022_346_MOESM4_ESM.xlsx › Sheet1
Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.
Bhattacharya S et al.
Genome Research, 2018
29567674 (PubMed )
Supplement: supp_gr.223693.117_Supplemental_Table_S8.xls › Indels_Exonic
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › Feuil3
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
Human mutations in integrator complex subunits link transcriptome integrity to brain development.
Oegema R et al.
Plos Genetics, 2017
28542170 (PubMed )
Supplement: pgen.1006809.s013.xlsx › WGS_-_list_of_variants
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