Concepedia
Statistics
Publications
75
Citations
4.7K
H-Index
34
Active since
1992
Affiliations
University of Minnesota(Current)
Mayo Clinic
Mayo Clinic in Florida
University of California, Los Angeles
Mayo Clinic in Arizona
Lisa A. Schimmenti is an author at University of Minnesota specializing in genetics, life sciences, and molecular genetics.
Publications per year
1992–2024
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
Andrea M. Oza, Marina T. DiStefano, Sarah E. Hemphill et al. · Human Mutation · 2018 · 517 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Mutations in Cypher/ZASPin patients with dilated cardiomyopathy and left ventricular non-compaction
Matteo Vatta, Bhagyalaxmi Mohapatra, Shinawe Jimenez et al. · Journal of the American College of Cardiology · 2003 · 515 citations
Medicine, Cardiology, Genetics +12
<i>WNT5A</i> mutations in patients with autosomal dominant Robinow syndrome
Anthony Person, Soraya Beiraghi, Christine M. Sieben et al. · Developmental Dynamics · 2009 · 249 citations · Full text
A new mtDNA mutation in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy
Gabriella Silvestri, Filippo M. Santorelli, Sara Shanske et al. · Human Mutation · 1994 · 176 citations
Life Sciences, Genetics, Molecular Genetics +15
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Natalie D. Shaw, Harrison Brand, Zachary A Kupchinsky et al. · Nature Genetics · 2017 · 162 citations · Full text
Life Sciences, Genetics, Molecular Genetics +12
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