Associated Papers
Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma.
Johansson PA et al.
Pigment Cell & Melanoma Research, 2025
39315505 (PubMed )
Supplement: PCMR-38-0-s002.xlsx › Table_S2
Contributions of Germline and Somatic Mosaic Genetics to Thoracic Aortic Aneurysms in Nonsyndromic Individuals.
Chen MH et al.
Journal of the American Heart Association, 2024
38958128 (PubMed )
Supplement: JAH3-13-e033232-s001.pdf
Variety of genetic defects in GnRH and hypothalamic-pituitary signaling and development in normosmic patients with IHH.
Kałużna M et al.
Frontiers in Endocrinology, 2024
39010903 (PubMed )
Supplement: Table_1.xlsx › GNRHR
Exome-based mutation screening in South African children with primary congenital glaucoma.
Carstens N et al.
Eye (london, England), 2023
Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.
Marini NJ et al.
American Journal of Medical Genetics. Part A, 2019
31063268 (PubMed )
Supplement: AJMG-179-1260-s006.xlsx › Table_S3
Exome sequencing in families with chronic central serous chorioretinopathy.
Schellevis RL et al.
Molecular Genetics & Genomic Medicine, 2019
30724488 (PubMed )
Supplement: MGG3-7-na-s005.xlsx › Family_17
Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.
Le Gallo M et al.
Nature Genetics, 2012
23104009 (PubMed )
Supplement: NIHMS412622-supplement-3.xls › Supplementary_Table_4
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