Associated Papers
Isolated Congenital Anosmia: Case Report and Literature Review.
Alotaibi NH et al.
Ear, Nose, & Throat Journal, 2025
The PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer models.
Herencia-Ropero A et al.
Genome Medicine, 2024
39187844 (PubMed )
Supplement: 13073_2024_1370_MOESM3_ESM.xlsx › SNV
Exome Sequencing to Identify Novel Variants Associated with Secondary Amenorrhea and Premature Ovarian Insufficiency (POI) in Saudi Women.
Almatrafi AM et al.
Biomedicines, 2024
Unravelling morphoea aetiopathogenesis by next-generation sequencing of paired skin biopsies.
Saracino AM et al.
Archives of Dermatological Research, 2023
Innovative Family-Based Genetically Informed Series of Analyses of Whole-Exome Data Supports Likely Inheritance for Grammar in Children with Specific Language Impairment.
Andres EM et al.
Children (basel, Switzerland), 2023
37508616 (PubMed )
Supplement: children-10-01119-s001.zip › children-2428542-supplementary.pdf
Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.
Chen M et al.
Signal Transduction and Targeted Therapy, 2022
34980881 (PubMed )
Supplement: 41392_2021_710_MOESM2_ESM.xlsx › P8944-S3
Genomic characterization of co-existing neoplasia and carcinoma lesions reveals distinct evolutionary paths of gallbladder cancer.
Lin J et al.
Nature Communications, 2021
34362903 (PubMed )
Supplement: 41467_2021_25012_MOESM3_ESM.xlsx › TableS2.SomaticMutations
Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes.
Arias-Pérez RD et al.
Bmc Medical Genomics, 2021
34039366 (PubMed )
Supplement: 12920_2021_987_MOESM1_ESM.docx
Genomic and Transcriptomic Characterization of Relapsed SCLC Through Rapid Research Autopsy.
Chen HZ et al.
Jto Clinical and Research Reports, 2021
34590014 (PubMed )
Supplement: mmc5.xlsx › Bx
Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.
Mkaouar R et al.
Frontiers in Genetics, 2021
34539727 (PubMed )
Supplement: Table_8.XLSX › Feuil1
Tumor Sequencing and Patient-Derived Xenografts in the Neoadjuvant Treatment of Breast Cancer.
Goetz MP et al.
Journal of the National Cancer Institute, 2017
28376176 (PubMed )
Supplement: djw306_Supp.zip › 16-0785R2_Goetz_Supplementary_Tables_3-6_111716.xlsx › Suppl_Table_5m
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