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UnknownA mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia.
Not available
S-EPMC4834928 | biostudies-literature
UnknownGenomic Information for Clinicians in the Electronic Health Record: Lessons Learned From the Clinical Genome Resource Project and the Electronic Medical Records and Genomics Network.
Not available
S-EPMC6830110 | biostudies-literature
UnknownReanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates.
Not available
S-EPMC10128874 | biostudies-literature
UnknownStem Cell-Specific Mechanisms Ensure Genomic Fidelity within HSCs and upon Aging of HSCs.
Not available
S-EPMC4691560 | biostudies-literature
UnknownMutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
Not available
S-EPMC4520737 | biostudies-literature
UnknownParticipant choices for return of genomic results in the eMERGE Network.
Not available
S-EPMC8477450 | biostudies-literature
UnknownMultiancestral polygenic risk score for pediatric asthma.
Not available
S-EPMC9643615 | biostudies-literature
UnknownNeuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
Not available
S-EPMC8108008 | biostudies-literature
UnknownSequencing and health data resource of children of African ancestry.
Not available
S-EPMC11974803 | biostudies-literature
UnknownProspective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.
Not available
S-EPMC10645563 | biostudies-literature
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