Associated Papers
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs
A rare rearrangement of 5q31.2 in a child with a neurodevelopmental syndrome.
Goldenstein H et al.
Clinical Dysmorphology, 2021
The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.
Magistri M et al.
Cancer Research Communications, 2021
35528192 (PubMed )
Supplement: crc-21-0022-s03.xlsx › HCandMUTECT_variants_mutrate10g
Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic.
Bick D et al.
Journal of Pediatric Genetics, 2017
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