| Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development CL Yates, KG Monaghan, D Copenheaver, K Retterer, J Scuffins, ... Genetics in Medicine 19 (10), 1171-1178, 2017 | 142 | 2017 |
| Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort K Retterer, J Scuffins, D Schmidt, R Lewis, D Pineda-Alvarez, A Stafford, ... Genetics in Medicine 17 (8), 623-629, 2015 | 138 | 2015 |
| Molecular diagnostic yield of exome sequencing in patients with cerebral palsy A Moreno-De-Luca, F Millan, DR Pesacreta, HZ Elloumi, MT Oetjens, ... Jama 325 (5), 467-475, 2021 | 83 | 2021 |
| Mobile element insertion detection in 89,874 clinical exomes RI Torene, K Galens, S Liu, K Arvai, C Borroto, J Scuffins, Z Zhang, ... Genetics in Medicine 22 (5), 974-978, 2020 | 53 | 2020 |
| Uniparental disomy in a population of 32,067 clinical exome trios J Scuffins, J Keller-Ramey, L Dyer, G Douglas, R Torene, V Gainullin, ... Genetics in Medicine 23 (6), 1101-1107, 2021 | 38 | 2021 |
| Genetic testing of> 1300 patients with cerebral palsy reveals an etiology in one-third of cases, underscoring the need for broad genetic testing and a significant recurrence … F Millan, H Elloumi, C Teigen, J Scuffins, R Torene, D McKnight Neurology 92 (15 Supplement), 2019 | 2 | 2019 |
| A comprehensive and dynamic approach for genetic testing for patient with leukodystrophy demonstrates a genetic etiology in 33% of cases (P4. 6-054) F Zou, T Zuck, CD Pickersgill, FM Zamora, K Retterer, J Scuffins, ... Neurology 92 (15 Supplement), 2019 | 1 | 2019 |
| P583: Four cases of mosaic triploidy identified by trio exome sequencing W Wang, L Henderson, J Scuffins, L Dyer, LH Dyer, G Douglas, ... Genetics in Medicine Open 1 (1), 2023 | | 2023 |
| Cerebral palsy is caused by genomic variants in 27% of patients undergoing exome sequencing F Millan, A Moreno-De-Luca, S Lewis, HZ Elloumi, DR Pesacreta, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 382-383, 2020 | | 2020 |
| Genetic Test Results for 896 Patients with ASD/ID: The Diagnostic Yield of Multigene Analysis (Autism/ID Xpanded Test) is Higher than Conventional First-tier Tests, Such as … A Shanmugham, T Brandt, J Scuffins, D McKnight ANNALS OF NEUROLOGY 86, S85-S85, 2019 | | 2019 |
| Exome Sequencing in Patients with Cerebral Palsy Identifies an Etiology in One-third of Cases, Underscoring the Need for Broad Genetic Testing and a Significant Recurrence Risk … F Millan, H Elloumi, C Teigen, J Scuffins, R Torene, D McKnight ANNALS OF NEUROLOGY 86, S83-S84, 2019 | | 2019 |
| Genetic Testing Has a High Diagnostic Yield for Individuals with ALS regardless of Family History (P1. 4-009) H Yang, A Decker, J Scuffins, R Brandon, A Lindy Neurology 92 (15 Supplement), 2019 | | 2019 |
| Phenotypic Complexity and the Likelihood of a Diagnostic Result in a Sequencing Test of 2,300+ Genes Associated with Autism Spectrum Disorders and/or Intellectual Disability … T Brandt, A Shanmugham, J Scuffins, J Juusola, D McKnight Neurology 92 (15 Supplement), 2019 | | 2019 |
| Outcome of Genetic Testing for Patients with Epilepsy is Associated with Age of Seizure Onset, Presence of Other Neurological Features and Concurrent Testing of Parents (P2. 5-009) D Mcknight, J Scuffins, E Butler Neurology 92 (15 Supplement), 2019 | | 2019 |
| Genetic test results for 523 patients with ASD/ID: The diagnostic yield of multigene analysis (Autism/ID Xpanded test) is higher than conventional first-tier tests, such as … A Shanmugham, T Brandt, J Scuffins, D McKnight Neurology 92 (15 Supplement), 2019 | | 2019 |
| Trio-based Exome Sequencing Provides a Comprehensive and Dynamic Approach to Genetic Testing for Leukodystrophy F Zou, T Zack, C Downtain, F Zamora, K Retterer, J Scuffins, D McKnight ANNALS OF NEUROLOGY 84, S309-S309, 2018 | | 2018 |
| Diagnostic Utility of Exome Sequencing for Disorders of the Immune System A Begtrup, R Chikarmane, A Blevins, J Scuffins, J Juusola JOURNAL OF CLINICAL IMMUNOLOGY 38 (3), 354-354, 2018 | | 2018 |
| Next-generation Sequencing Panel for Autism and/or Intellectual Disability: A Comparable Alternative to Whole Exome Sequencing (WES) D Bishay, HH Elloumi, D Stolar, A Shanmugham, F Zou, J Scuffins, ... ANNALS OF NEUROLOGY 82, S300-S301, 2017 | | 2017 |
| EXOME SEQUENCING OFFERS A COMPREHENSIVE GENETIC EVALUATION AND HIGH DIAGNOSTIC RATE FOR ATAXIA-RELATED DISORDERS F Milian, D McKnight, J Scuffins, J Juusola, G Richard, A Lindy NEUROLOGY 88, 2017 | | 2017 |
| EXOME SEQUENCING OFFERS A COMPREHENSIVE GENETIC EVALUATION AND HIGH DIAGNOSTIC RATE FOR ATAXIA-RELATED DISORDERS (S17. 004) F Millan, D McKnight, J Scuffins, J Juusola, G Richard, A Lindy Neurology 88 (16 Supplement), 2017 | | 2017 |
