Search details
1.
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
Am J Hum Genet
; 110(9): 1454-1469, 2023 09 07.
Article
in English
| MEDLINE | ID: mdl-37595579
2.
Establishing the Medical Actionability of Genomic Variants.
Annu Rev Genomics Hum Genet
; 23: 173-192, 2022 08 31.
Article
in English
| MEDLINE | ID: mdl-35363504
3.
Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.
Am J Hum Genet
; 107(4): 596-611, 2020 10 01.
Article
in English
| MEDLINE | ID: mdl-32853555
4.
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.
Am J Hum Genet
; 107(5): 932-941, 2020 11 05.
Article
in English
| MEDLINE | ID: mdl-33108757
5.
Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities.
Genet Med
; 25(10): 100915, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37326029
6.
The Burden of COVID-19 on Caregivers of Children with Suspected Genetic Conditions: A Therapeutic Odyssey.
Phys Occup Ther Pediatr
; 43(3): 257-271, 2023.
Article
in English
| MEDLINE | ID: mdl-36310386
7.
Testing and extending strategies for identifying genetic disease-related encounters in pediatric patients.
Genet Med
; 24(4): 831-838, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35034852
8.
ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents.
Genet Med
; 24(6): 1328-1335, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35341655
9.
Noninvasive prenatal exome sequencing diagnostic utility limited by sequencing depth and fetal fraction.
Prenat Diagn
; 42(5): 567-573, 2022 05.
Article
in English
| MEDLINE | ID: mdl-34265090
10.
Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing.
BMC Bioinformatics
; 22(1): 374, 2021 Jul 20.
Article
in English
| MEDLINE | ID: mdl-34284719
11.
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.
Am J Hum Genet
; 103(3): 319-327, 2018 09 06.
Article
in English
| MEDLINE | ID: mdl-30193136
12.
Rosai-Dorfman Disease and Exocrine Pancreatic Insufficiency in a Patient With a Germline SLC29A3 Mutation.
J Pediatr Hematol Oncol
; 43(5): e689-e691, 2021 07 01.
Article
in English
| MEDLINE | ID: mdl-32769566
13.
An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Genet Med
; 22(5): 954-961, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31974414
14.
Correction: An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Genet Med
; 22(8): 1426, 2020 Aug.
Article
in English
| MEDLINE | ID: mdl-32555414
15.
Referencing BRCA in hereditary cancer risk discussions: In search of an anchor in a sea of uncertainty.
J Genet Couns
; 29(6): 949-959, 2020 12.
Article
in English
| MEDLINE | ID: mdl-31967382
16.
Factors influencing NCGENES research participants' requests for non-medically actionable secondary findings.
Genet Med
; 21(5): 1092-1099, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30237575
17.
An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.
J Pediatr
; 209: 68-76, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30851990
18.
Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings.
Genet Med
; 20(10): 1186-1195, 2018 10.
Article
in English
| MEDLINE | ID: mdl-29388940
19.
The who, what, and why of research participants' intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study.
Genet Med
; 20(7): 760-769, 2018 07.
Article
in English
| MEDLINE | ID: mdl-29261173
20.
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.
Genet Med
; 20(8): 855-866, 2018 08.
Article
in English
| MEDLINE | ID: mdl-29144510