Amy E Roberts
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Explore the profile of Amy E Roberts including associated specialties, affiliations and a list of published articles.
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84
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5035
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Recent Articles
1.
Dong W, Jin S, Sierant M, Lu Z, Li B, Lu Q, et al.
Proc Natl Acad Sci U S A
. 2025 Mar;
122(10):e2419992122.
PMID: 40030011
Variants with large effect contribute to congenital heart disease (CHD). To date, recessive genotypes (RGs) have commonly been implicated through anecdotal ascertainment of consanguineous families and candidate gene-based analysis; the...
2.
Mondragon-Estrada E, Newburger J, DePalma S, Brueckner M, Cleveland J, Chung W, et al.
iScience
. 2025 Jan;
28(2):111707.
PMID: 39877905
Neurodevelopmental impairments associated with congenital heart disease (CHD) may arise from perturbations in brain developmental pathways, including the formation of sulcal patterns. While genetic factors contribute to sulcal features, the...
3.
French C, Andrews N, Beggs A, Boone P, Brownstein C, Chopra M, et al.
NPJ Genom Med
. 2024 Dec;
9(1):60.
PMID: 39622807
Boston Children's Hospital has established a genomic sequencing and analysis research initiative to improve clinical care for pediatric rare disease patients. Through the Children's Rare Disease Collaborative (CRDC), the hospital...
4.
Mullen M, Ivy D, Varghese N, Winant A, Cortes-Santiago N, Vargas S, et al.
J Pediatr
. 2024 Nov;
278:114422.
PMID: 39603521
Objective: To characterize clinical, hemodynamic, imaging, and pathologic findings in children with pulmonary arterial hypertension (PAH) and variants in SRY-box transcription factor 17 (SOX17), a novel risk gene linked to...
5.
Vandewouw M, Norris-Brilliant A, Rahman A, Assimopoulos S, Morton S, Kushki A, et al.
Neuroimage
. 2024 Jul;
297:120721.
PMID: 38968977
Individuals with congenital heart disease (CHD) have an increased risk of neurodevelopmental impairments. Given the hypothesized complexity linking genomics, atypical brain structure, cardiac diagnoses and their management, and neurodevelopmental outcomes,...
6.
Bucholz E, Morton S, Madriago E, Roberts A, Ronai C
J Cardiovasc Dev Dis
. 2024 Jun;
11(6).
PMID: 38921669
Congenital heart disease (CHD) is increasingly diagnosed prenatally and the ability to screen and diagnose the genetic factors involved in CHD have greatly improved. The presence of a genetic abnormality...
7.
Maleyeff L, Park H, Khazal Z, Wypij D, Rollins C, Yun H, et al.
Cereb Cortex
. 2024 Jun;
34(6.
PMID: 38836834
Congenital heart disease affects 1% of infants and is associated with impaired neurodevelopment. Right- or left-sided sulcal features correlate with executive function among people with Tetralogy of Fallot or single...
8.
Pan X, Tao A, Lu S, Ma M, Hannan S, Slaugh R, et al.
Am J Hum Genet
. 2024 Mar;
111(4):742-760.
PMID: 38479391
FRY-like transcription coactivator (FRYL) belongs to a Furry protein family that is evolutionarily conserved from yeast to humans. The functions of FRYL in mammals are largely unknown, and variants in...
9.
Liu D, Billington Jr C, Raja N, Wong Z, Levin M, Resch W, et al.
J Am Heart Assoc
. 2024 Jan;
13(3):e031377.
PMID: 38293922
Background: Supravalvar aortic stenosis (SVAS) is a characteristic feature of Williams-Beuren syndrome (WBS). Its severity varies: ~20% of people with Williams-Beuren syndrome have SVAS requiring surgical intervention, whereas ~35% have...
10.
Maleyeff L, Newburger J, Wypij D, Thomas N, Anagnoustou E, Brueckner M, et al.
Ann Clin Transl Neurol
. 2023 Nov;
11(2):278-290.
PMID: 38009418
Objective: Persons with congenital heart disease (CHD) are at increased risk of neurodevelopmental disabilities, including impairments to executive function. Sulcal pattern features correlate with executive function in adolescents with single-ventricle...