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Paper Details

TOPORS as a novel causal gene for Joubert syndrome.
Am J Med Genet A
1
2023
JBTS, Joubert syndrome, Mendelian disorder of the primary, Pro10Gln, TOPORS, TOPORS p.(Pro10Gln), TOPORS p.(Pro10Gln) variant, TOPORS variants, arginine, c, cerebellar malformation, ciliopathy oral-facial-digital syndrome, ciliopathy-spectrum disease, developmental delay, hypotonia, molar tooth, p.(Pro10Gln) TOPORS missense, p.(Pro10Gln) TOPORS missense variant, serine, topoisomerase I-binding arginine/serine-rich protein
Author NameAffiliation
Elaine H ZackaiChildren's Hospital of Philadelphia
Elaine H ZackaiPerelman School of Medicine at the University of Pennsylvania
Joseph T GlessnerThe Center for Applied Genomics, Children's Hospital of Philadelphia
Joseph T GlessnerPerelman School of Medicine at the University of Pennsylvania
Eimear E KennyInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai
Eimear E KennyIcahn School of Medicine at Mount Sinai
Eimear E KennyIcahn School of Medicine at Mount Sinai
Eimear E KennyInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai
Eimear E KennyIcahn School of Medicine at Mount Sinai
Eimear E KennyIcahn School of Medicine at Mount Sinai
Hakon HakonarsonChildren's Hospital of Philadelphia
Hakon HakonarsonThe Center for Applied Genomics, Children's Hospital of Philadelphia
Hakon HakonarsonPerelman School of Medicine at the University of Pennsylvania
Hakon HakonarsonChildren's Hospital of Philadelphia
Hakon HakonarsonChildren's Hospital of Philadelphia
Hakon HakonarsonThe Center for Applied Genomics, Children's Hospital of Philadelphia
Hakon HakonarsonPerelman School of Medicine at the University of Pennsylvania
Hakon HakonarsonChildren's Hospital of Philadelphia
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