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Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.
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Ebiomedicine, 2024
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Supplement: mmc1.xlsx › Supp_Table_2
A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins.
Lin X et al.
Frontiers in Pediatrics, 2024
38832002 (PubMed )
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Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.
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Plos One, 2024
39423205 (PubMed )
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Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid.
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Genes, 2023
38002998 (PubMed )
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Whole-exome sequencing of calcitonin-producing pancreatic neuroendocrine neoplasms indicates a unique molecular signature.
Döring C et al.
Frontiers in Oncology, 2023
STOX1 deficiency is associated with renin-mediated gestational hypertension and placental defects.
Parchem JG et al.
Jci Insight, 2021
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
33116287 (PubMed )
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The Impact of Whole Genome Data on Therapeutic Decision-Making in Metastatic Prostate Cancer: A Retrospective Analysis.
Crumbaker M et al.
Cancers, 2020
32392735 (PubMed )
Supplement: cancers-12-01178-s001.zip › cancers-762392-suppl-final › cancers-762392.xlsx › TableS1._Selected_germline_SNVs
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.
Zhang C et al.
Genome Biology, 2019
31640808 (PubMed )
Supplement: 13059_2019_1838_MOESM4_ESM.xlsx › Sheet1
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
30026549 (PubMed )
Supplement: 41598_2018_29279_MOESM1_ESM.pdf
When dysphoria is not a primary mental state: A case report of the role of the aromatic L-aminoacid decarboxylase.
Portaro S et al.
Medicine, 2018
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
Kürschner G et al.
Oncotarget, 2017
29285300 (PubMed )
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Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
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Human Mutation, 2015
26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00010-Table_S13.xlsx › Sheet1
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.
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Bmc Genomics, 2015
25887915 (PubMed )
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Evaluation of STOX1 as a preeclampsia candidate gene in a population-wide sample.
Kivinen K et al.
European Journal of Human Genetics : Ejhg, 2007
Maternal segregation of the Dutch preeclampsia locus at 10q22 with a new member of the winged helix gene family.
van Dijk M et al.
Nature Genetics, 2005
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