8 Result(s)
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Open AccessCorrection: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
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Open AccessBi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies
CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlap** phe...
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Open AccessImplementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
In the United States, rare disease (RD) is defined as a condition that affects fewer than 200,000 individuals. Collectively, RD affects an estimated 30 million Americans. A significant portion of RD has an und...
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Open AccessClinical and molecular correlates from a predominantly adult cohort of patients with short telomere lengths
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Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin have defects in cortical organizat...
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Open AccessFunctional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes
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Open AccessBest practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease
Whole-genome sequencing (WGS) has shown promise in becoming a first-tier diagnostic test for patients with rare genetic disorders; however, standards addressing the definition and deployment practice of a best...
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Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans
Huda Zoghbi and colleagues report that loss of the ATXN1–CIC protein complex in the develo** mouse forebrain results in hyperactivity and defects in learning and memory. Loss of Cic in specific brain regions ca...
