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UCSF School of Medicine | Department of Pediatrics UCSF Medical Center

Overcoming presynaptic effects of VAMP2 mutations with 4-aminopyridine treatment.

  • Read more about Overcoming presynaptic effects of VAMP2 mutations with 4-aminopyridine treatment.

ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.

  • Read more about ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.

Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.

  • Read more about Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.

Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification.

  • Read more about Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification.

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

  • Read more about De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.

  • Read more about Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.

Activating mutations cluster in the "molecular brake" regions of protein kinases and do not associate with conserved or catalytic residues.

  • Read more about Activating mutations cluster in the "molecular brake" regions of protein kinases and do not associate with conserved or catalytic residues.

VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.

  • Read more about VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.

Dendritic cells from humans with hypomorphic mutations in IKBKG/NEMO have impaired mitogen-activated protein kinase activity.

  • Read more about Dendritic cells from humans with hypomorphic mutations in IKBKG/NEMO have impaired mitogen-activated protein kinase activity.

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

  • Read more about Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

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