| Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions KD Farwell, L Shahmirzadi, D El-Khechen, Z Powis, EC Chao, BT Davis, ... Genetics in Medicine 17 (7), 578-586, 2015 | 526 | 2015 |
| Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing L Shahmirzadi, EC Chao, E Palmaer, MC Parra, S Tang, KDF Gonzalez Genetics in Medicine 16 (5), 395-399, 2014 | 129 | 2014 |
| Exome sequencing covers> 98% of mutations identified on targeted next generation sequencing panels H LaDuca, KD Farwell, H Vuong, HM Lu, W Mu, L Shahmirzadi, S Tang, ... Plos one 12 (2), e0170843, 2017 | 120 | 2017 |
| Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies CL Alamillo, Z Powis, K Farwell, L Shahmirzadi, EC Weltmer, J Turocy, ... Prenatal diagnosis 35 (11), 1073-1078, 2015 | 104 | 2015 |
| Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases KD Farwell Hagman, DN Shinde, C Mroske, E Smith, K Radtke, ... Genetics in Medicine 19 (2), 224-235, 2017 | 59 | 2017 |
| New insights into the genetics of fetal megacystis: ACTG2 mutations, encoding γ-2 smooth muscle actin in megacystis microcolon intestinal hypoperistalsis syndrome (Berdon syndrome) L Tuzovic, S Tang, RS Miller, L Rohena, L Shahmirzadi, K Gonzalez, X Li, ... Fetal diagnosis and therapy 38 (4), 296-306, 2015 | 59 | 2015 |
| Clinical whole‐exome sequencing results impact medical management N Niguidula, C Alamillo, L Shahmirzadi Mowlavi, Z Powis, JS Cohen, ... Molecular genetics & genomic medicine 6 (6), 1068-1078, 2018 | 49 | 2018 |
| Characterization of a caveolin‐1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy B Han, CA Copeland, Y Kawano, EB Rosenzweig, ED Austin, ... Traffic 17 (12), 1297-1312, 2016 | 49 | 2016 |
| Diagnostic Exome Sequencing Identifies Two Novel IQSEC2 Mutations Associated with X‐Linked Intellectual Disability with Seizures: Implications for Genetic … SK Gandomi, KD Farwell Gonzalez, M Parra, L Shahmirzadi, J Mancuso, ... Journal of genetic counseling 23 (3), 289-298, 2014 | 49 | 2014 |
| BRAT1 mutations present with a spectrum of clinical severity S Srivastava, HE Olson, JS Cohen, CS Gubbels, S Lincoln, BT Davis, ... American Journal of Medical Genetics Part A 170 (9), 2265-2273, 2016 | 45 | 2016 |
| Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis Z Powis, KDF Hagman, V Speare, T Cain, K Blanco, LS Mowlavi, ... Genetics in Medicine 20 (11), 1468-1471, 2018 | 36 | 2018 |
| Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases KD Farwell Hagman, DN Shinde, C Mroske, E Smith, K Radtke, ... Genetics in Medicine 20 (9), 1099-1102, 2018 | 3 | 2018 |
| Characterization of a caveolin-1 mutation associated with both PAH and congenital generalized lipodystrophy B Han, CA Copeland, Y Kawano, EB Rosenzweig, ED Austin, ... Traffic, 2016 | 1 | 2016 |
| Family-based exome sequencing reveals that de novo alterations make up a significant portion of previously undiagnosed patients KD Gonzalez, L Shahmirzadi, E Palmaer, S Tang, X Li, EC Chao, ... ACMG Meeting, Phoenix, AZ, Mar, 19-23, 2013 | 1 | 2013 |
| Exome Sequencing Identifies Five Mutations in the DYNC1H1 Gene Associated with Severe Neurological Phenotypes J Cohen, L Shahmirzadi, I Lu, S Tang, BT Davis, W Zeng, E Chao | 1 | 2013 |
| Expanding the Phenotype of BRAT1 Mutations: Ataxia and Beyond S Srivastava, JS Cohen, S Gupta, BT Davis, L Shahmirzadi, S Naidu ANNALS OF NEUROLOGY 78, S195-S195, 2015 | | 2015 |
| Contents Vol. 38, 2015 L Tuzovic, A Mills, WK Chung, K Anyane-Yeboa, S Tang, RS Miller, ... Fetal Diagnosis and Therapy 38 (4), I-IV, 2015 | | 2015 |
| Front & Back Matter L Tuzovic, A Mills, WK Chung, K Anyane-Yeboa, S Tang, RS Miller, ... Fetal Diagnosis and Therapy 38 (4), 2015 | | 2015 |
| Diagnostic Exome Sequencing Provides a Diagnosis for Half of Neonatal Patients: A retrospective analysis of detection rates and phenotypes among neonates. L Shahmirzadi, K Farwell, T Ness, S Gandomi, D El-Khechen, Z Powis, ... 2014 AAP National Conference and Exhibition, 2014 | | 2014 |
| Utilization of clinical diagnostic exome sequencing for the molecular diagnosis of mitochondrial disorders and therapeutic implications S Tang, KDF Gonzalez, W Zeng, L Shahmirzadi, JJ Wei, X Li, EC Chao Mitochondrion 6 (13), 919-920, 2013 | | 2013 |
