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1.
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
Am J Hum Genet
; 106(2): 246-255, 2020 02 06.
Article
in English
| MEDLINE | ID: mdl-32004447
2.
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
3.
Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States.
Genet Med
; 25(2): 100330, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36445366
4.
Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.
JAMA
; 330(2): 161-169, 2023 07 11.
Article
in English
| MEDLINE | ID: mdl-37432431
5.
Training the next generation of genomic medicine providers: trends in medical education and national assessment.
Genet Med
; 22(10): 1718-1722, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32555416
6.
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
7.
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
8.
Parental Views on Newborn Next Generation Sequencing: Implications for Decision Support.
Matern Child Health J
; 24(7): 856-864, 2020 Jul.
Article
in English
| MEDLINE | ID: mdl-32424581
9.
The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening.
J Pediatr
; 211: 193-200.e2, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31133280
10.
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
11.
Early Check: translational science at the intersection of public health and newborn screening.
BMC Pediatr
; 19(1): 238, 2019 07 17.
Article
in English
| MEDLINE | ID: mdl-31315600
12.
What is Newborn Screening?
N C Med J
; 80(1): 32-36, 2019.
Article
in English
| MEDLINE | ID: mdl-30622202
13.
Parental preferences toward genomic sequencing for non-medically actionable conditions in children: a discrete-choice experiment.
Genet Med
; 20(2): 181-189, 2018 02.
Article
in English
| MEDLINE | ID: mdl-28771249
14.
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Am J Med Genet A
; 176(4): 925-935, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29436146
15.
Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics.
Genet Med
; 19(3): 294-296, 2017 03.
Article
in English
| MEDLINE | ID: mdl-27854359
16.
Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges.
Genet Med
; 19(11): 1207-1216, 2017 11.
Article
in English
| MEDLINE | ID: mdl-28518170
17.
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
Am J Med Genet A
; 173(4): 1097-1101, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-28181399
18.
Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.
Am J Med Genet A
; 173(10): 2720-2724, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28749033
19.
DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(6): 979-988, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33790423
20.
A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.
Genet Med
; 18(5): 467-75, 2016 05.
Article
in English
| MEDLINE | ID: mdl-26270767