Header Logo

Connection

Robert Hufnagel to Homozygote

This is a "connection" page, showing publications Robert Hufnagel has written about Homozygote.
Connection Strength

0.201
  1. Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort. Am J Med Genet A. 2020 03; 182(3):493-497.
    View in: PubMed
    Score: 0.045
  2. Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy. Invest Ophthalmol Vis Sci. 2019 11 01; 60(14):4811-4819.
    View in: PubMed
    Score: 0.044
  3. Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features. Mol Genet Genomic Med. 2019 11; 7(11):e969.
    View in: PubMed
    Score: 0.043
  4. Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. Am J Hum Genet. 2016 Dec 01; 99(6):1388-1394.
    View in: PubMed
    Score: 0.036
  5. A mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure. Dis Model Mech. 2016 05 01; 9(5):585-96.
    View in: PubMed
    Score: 0.034

© 2025 Kaiser Permanente