L. Shahmirzadi

发表

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

Xiang Li, Aaron Elliott, Xiang Li, 2014, Genetics in Medicine.

Diagnostic Exome Sequencing Identifies Two Novel IQSEC2 Mutations Associated with X-Linked Intellectual Disability with Seizures: Implications for Genetic Counseling and Clinical Diagnosis

S. Gandomi, Sha Tang, P. Pichurin, 2014, Journal of Genetic Counseling.

Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies

Donald G Basel, E. Chao, Sha Tang, 2015, Prenatal diagnosis.

Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing

E. Palmaer, E. Chao, Sha Tang, 2013, Genetics in Medicine.

New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome)

Xiang Li, W. Chung, A. Sepulveda, 2015, Fetal Diagnosis and Therapy.

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels

Jefferey Chen, H. LaDuca, E. Chao, 2017, PloS one.

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Sitao Wu, S. Sajan, C. Mroske, 2016, Genetics in Medicine.

BRAT1 mutations present with a spectrum of clinical severity

Sharyn A. Lincoln, David T. Miller, J. Soul, 2016, American journal of medical genetics. Part A.

Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Sitao Wu, S. Sajan, C. Mroske, 2018, Genetics in Medicine.

Characterization of a caveolin‐1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy

A. Kenworthy, Bing Han, Wendy K. Chung, 2016, Traffic.