Concepedia
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Publications
8
Citations
1K
H-Index
Active since
2013
Affiliations
Ambry Genetics (United States)(Current)
University of California, Irvine
Columbia University Irving Medical Center
Layla Shahmirzadi is an author at Ambry Genetics (United States) specializing in fragile x spectrum, clinical diagnosis, and genetics.
Top concepts
GeneticsMedicineNeurologyNeurogeneticsNeurogenomicsClinical GeneticsClinical DiagnosisFragile X SpectrumGenetic CounselingMolecular Genetics
Publications per year
2013–2017
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions
Kelly D. Farwell, Layla Shahmirzadi, Dima El‐Khechen et al. · Genetics in Medicine · 2014 · 462 citations · Full text
Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing
Layla Shahmirzadi, Elizabeth Chao, Erika Palmaer et al. · Genetics in Medicine · 2013 · 116 citations · Full text
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels
Holly LaDuca, Kelly D. Farwell, Huy Gia Vuong et al. · PLoS ONE · 2017 · 111 citations · Full text
Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies
Christina L. Alamillo, Zöe Powis, Kelly D. Farwell et al. · Prenatal Diagnosis · 2015 · 102 citations · Full text
New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)
Lea Tuzović, Sha Tang, Russell S. Miller et al. · Fetal Diagnosis and Therapy · 2015 · 56 citations
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