Julie Scuffins
机构: Associate Director of Clinical Applications, GeneDx
每年引用次数
引用次数
引用: 463
H-指数: 5
I10-指数 : 5
出版物: 21
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 risk for families. (P4.6-028)
Dianalee McKnight , Claire Teigen , Francisca Millan , Julie Scuffins
Neurology 92
2019
Uniparental disomy in a population of 32,067 clinical exome trios.
Jane Juusola , Kyle Retterer , Ganka Douglas , Julie Scuffins
Genetics in Medicine 1 -7
1
2021
Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.
Andrés Moreno-De-Luca , Francisca Millan , Denis R Pesacreta , Houda Z Elloumi
JAMA 325 ( 5) 467 -475
50
2021
EXOME SEQUENCING OFFERS A COMPREHENSIVE GENETIC EVALUATION AND HIGH DIAGNOSTIC RATE FOR ATAXIA-RELATED DISORDERS (S17.004)
Amanda Lindy , Jane Juusola , Dianalee McKnight , Francisca Millan
Neurology 88
2017
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 FMR1 repeat analysis and chromosomal microarray (P5.6-040)
Anita Shanmugham , Dianalee McKnight , Julie Scuffins , Tracy Brandt
Neurology 92
2019
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development
Carin L Yates , Kristin G Monaghan , Deborah Copenheaver , Kyle Retterer
Genetics in Medicine 19 ( 10) 1171 -1178
61
2017
Mobile element insertion detection in 89,874 clinical exomes
Rebecca I. Torene , Kevin Galens , Shuxi Liu , Kevin Arvai
Genetics in Medicine 22 ( 5) 974 -978
10
2020
Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort.
Kyle Retterer , Julie Scuffins , Daniel Schmidt , Rachel Lewis
Genetics in Medicine 17 ( 8) 623 -629
68
2015
A comprehensive and dynamic approach for genetic testing for patient with leukodystrophy demonstrates a genetic etiology in 33% of cases (P4. 6-054)
Fanggeng Zou , Taylor Zuck , Courtney Downtain Pickersgill , Francisca Millan Zamora
Neurology 92 ( 15 Supplement)
1
2019
P583: Four cases of mosaic triploidy identified by trio exome sequencing
Wei Wang , Lindsay Henderson , Julie Scuffins , Lisa Dyer
Genetics in Medicine Open 1 ( 1)
2023
Genetic Testing Has a High Diagnostic Yield for Individuals with ALS regardless of Family History (P1. 4-009)
Hui Yang , Amy Decker , Julie Scuffins , Rhonda Brandon
Neurology 92 ( 15 Supplement)
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 (P2. 1-006)
Tracy Brandt , Anita Shanmugham , Julie Scuffins , Jane Juusola
Neurology 92 ( 15 Supplement)
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)
Dianalee Mcknight , Julie Scuffins , Elizabeth Butler
Neurology 92 ( 15 Supplement)
2019
Diagnostic Utility of Exome Sequencing for Disorders of the Immune System
Amber Begtrup , Rashmi Chikarmane , Amy Blevins , Julie Scuffins
JOURNAL OF CLINICAL IMMUNOLOGY 38 ( 3) 354 -354
2018
EXOME SEQUENCING OFFERS A COMPREHENSIVE GENETIC EVALUATION AND HIGH DIAGNOSTIC RATE FOR ATAXIA-RELATED DISORDERS
Francisca Milian , Dianalee McKnight , Julie Scuffins , Jane Juusola
NEUROLOGY 88
2017
Cerebral palsy is caused by genomic variants in 27% of patients undergoing exome sequencing
F Millan , A Moreno-De-Luca , S Lewis , HZ Elloumi
EUROPEAN JOURNAL OF HUMAN GENETICS 28 ( SUPPL 1) 382 -383
2020
Trio-based Exome Sequencing Provides a Comprehensive and Dynamic Approach to Genetic Testing for Leukodystrophy
F Zou , T Zack , C Downtain , F Zamora
ANNALS OF NEUROLOGY 84 S309 -S309
2018
Phenotypic Filtering Strategies and Importance of Clinical Information for Successful WES Analysis
P Vitazka , J Scuffins , D Copenheaver , J Neidich
JOURNAL OF MOLECULAR DIAGNOSTICS 16 ( 6) 713 -713
2014
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 for Families
F Millan , H Elloumi , C Teigen , J Scuffins
ANNALS OF NEUROLOGY 86 S83 -S84
2019
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 FMR1 Repeat Analysis and Chromosomal Microarray
A Shanmugham , T Brandt , J Scuffins , D McKnight
ANNALS OF NEUROLOGY 86 S85 -S85
2019